{ "uniprot_canonical_ac": "P0DJD3-1", "uniprot_ac": "P0DJD3", "uniprot_id": "RBY1A_HUMAN", "mass": { "chemical_mass": 55784.0, "monoisotopic_mass": 55784.0 }, "refseq": { "ac": "NP_001307873", "name": "RNA-binding motif protein, Y chromosome, family 1 member A1 isoform 2", "summary": "This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873" }, "gene_names": [ { "name": "RBMY1A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DJD3", "id": "P0DJD3" }, { "name": "RBM1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DJD3", "id": "P0DJD3" }, { "name": "RBM2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DJD3", "id": "P0DJD3" }, { "name": "RBM; RBM1; RBM2; RBMY; RBMY1C; YRRM1; YRRM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873", "id": "NP_001307873" }, { "name": "RBMY1A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873", "id": "NP_001307873" }, { "name": "YRRM1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DJD3", "id": "P0DJD3" }, { "name": "YRRM2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DJD3", "id": "P0DJD3" } ], "protein_names": [ { "name": "RNA-binding motif protein, Y chromosome, family 1 member A1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DJD3" }, { "name": "RNA-binding motif protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DJD3" }, { "name": "RNA-binding motif protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DJD3" }, { "name": "RNA-binding motif protein, Y chromosome, family 1 member A1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873", "id": "NP_001307873" }, { "name": "RNA-binding motif protein, Y chromosome, family 1 member A1/C; RNA-binding motif protein 2; Y chromosome RNA recognition motif 1; Y chromosome RNA recognition motif 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873", "id": "NP_001307873" }, { "name": "Y chromosome RNA recognition motif 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DJD3" }, { "name": "hRBMY", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DJD3" } ], "function": [ { "annotation": "Genetic association study in population in southwest China: Data suggest that copy number variation in RBMY1 is associated with sperm motility and asthenozoospermia; RBMY1 functional copy dosage is positively correlated with sperm motility; dosage insufficiency is independent genetic risk factor for asthenozoospermia; RBMY1 is an important candidate for male infertility in azoospermia factor (AZF) region of Y-chromosome.", "evidence": [ { "database": "RefSeq", "id": "NP_001307873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873" }, { "database": "PubMed", "id": "28498920", "url": "https://glygen.org/publication/PubMed/28498920" } ] }, { "annotation": "PIM1-Induced Cytoplasmic Expression of RBMY Mediates Hepatocellular Carcinoma Metastasis.", "evidence": [ { "database": "RefSeq", "id": "NP_001307873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873" }, { "database": "PubMed", "id": "36191855", "url": "https://glygen.org/publication/PubMed/36191855" } ] }, { "annotation": "Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001307873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873" }, { "database": "PubMed", "id": "32473614", "url": "https://glygen.org/publication/PubMed/32473614" } ] }, { "annotation": "RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs.", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3#function" }, { "database": "PubMed", "id": "12165565", "url": "https://glygen.org/publication/PubMed/12165565" }, { "database": "PubMed", "id": "8269511", "url": "https://glygen.org/publication/PubMed/8269511" } ] }, { "annotation": "This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001307873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "28.19", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000234414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000234414" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000234414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000234414" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000234414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000234414" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000234414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000234414" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "31.72", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000234414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000234414" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "16.48", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000234414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000234414" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000234414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000234414" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "18.3", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000234414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000234414" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "14.63", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000234414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000234414" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P0DJD3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DJD3" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "common_name": "Human" } ], "gene": [ { "name": "RBMY1A1", "url": "https://www.uniprot.org/uniprot/P0DJD3", "locus": { "chromosome": "Y", "start_pos": 21549326, "end_pos": 21534879, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000234414", "url": "https://www.ensembl.org/id/ENSG00000234414" } ] } } ], "crossref": [ { "id": "ENSG00000234414", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000234414", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd12382", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12382", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "RBMY1A1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBMY1A1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5940", "url": "https://www.ncbi.nlm.nih.gov/gene/5940", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "9912", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9912", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P0DJD3", "url": "https://www.ebi.ac.uk/intact/interactors/id:P0DJD3*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000504", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000504", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012604", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012604", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012677", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012677", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035979", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035979", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5940", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5940", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "400006", "url": "http://www.omim.org/entry/400006", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P0DJD3", "url": "https://www.nextprot.org/entry/NX_P0DJD3", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DEIFIMR", "url": "https://omabrowser.org/oma/group/DEIFIMR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4701164at2759", "url": "http://www.orthodb.org/?query=4701164at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR48034", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48034", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48034:SF17", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48034:SF17", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2FY1", "url": "https://www.rcsb.org/structure/2FY1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00076", "url": "http://pfam.xfam.org/family/PF00076", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08081", "url": "http://pfam.xfam.org/family/PF08081", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P0DJD3", "url": "https://pharos.nih.gov/targets/P0DJD3", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P0DJD3", "url": "http://purl.obolibrary.org/obo/PR_P0DJD3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001307873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DJD3-1", "url": "https://www.uniprot.org/uniprot/P0DJD3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DJD3-2", "url": "https://www.uniprot.org/uniprot/P0DJD3-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DJD3-3", "url": "https://www.uniprot.org/uniprot/P0DJD3-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVEADHPGKLFIGGLNRETNEKMLKAVFGKHGPISEVLLIKDRTSKSRGFAFITFENPADAKNAAKDMNGKSLHGKAIKVEQAKKPSFQSGGRRRPPASSRNRSPSGSLRSARGSRGGTRGWLPSHEGHLDDGGYTPDLKMSYSRGLIPVKRGPSSRSGGPPPKKSAPSAVARSNSWMGSQGPMSQRRENYGVPPRRATISSWRNDRMSTRHDGYATNDGNHPSCQETRDYAPPSRGYAYRDNGHSNRDEHSSRGYRNHRSSRETRDYAPPSRGHAYRDYGHSRRDESYSRGYRNRRSSRETREYAPPSRGHGYRDYGHSRRHESYSRGYRNHPSSRETRDYAPPHRDYAYRDYGHSSWDEHSSRGYSYHDGYGEALGRDHSEHLSGSSYRDALQRYGTSHGAPPARGPRMSYGGSTCHAYSNTRDRYGRSWESYSSCGDFHYCDREHVCRKDQRNPPSLGRVLPDPREACGSSSYVASIVDGGESRSEKGDSSRY", "length": 496, "header": "sp|P0DJD3-1|RBY1A_HUMAN Isoform 1 of RNA-binding motif protein, Y chromosome, family 1 member A1 OS=Homo sapiens OX=9606 GN=RBMY1A1 PE=1 SV=1 CANONICAL=P0DJD3-1" }, "isoforms": [ { "isoform_ac": "P0DJD3-1", "url": "", "sequence": { "sequence": "MVEADHPGKLFIGGLNRETNEKMLKAVFGKHGPISEVLLIKDRTSKSRGFAFITFENPADAKNAAKDMNGKSLHGKAIKVEQAKKPSFQSGGRRRPPASSRNRSPSGSLRSARGSRGGTRGWLPSHEGHLDDGGYTPDLKMSYSRGLIPVKRGPSSRSGGPPPKKSAPSAVARSNSWMGSQGPMSQRRENYGVPPRRATISSWRNDRMSTRHDGYATNDGNHPSCQETRDYAPPSRGYAYRDNGHSNRDEHSSRGYRNHRSSRETRDYAPPSRGHAYRDYGHSRRDESYSRGYRNRRSSRETREYAPPSRGHGYRDYGHSRRHESYSRGYRNHPSSRETRDYAPPHRDYAYRDYGHSSWDEHSSRGYSYHDGYGEALGRDHSEHLSGSSYRDALQRYGTSHGAPPARGPRMSYGGSTCHAYSNTRDRYGRSWESYSSCGDFHYCDREHVCRKDQRNPPSLGRVLPDPREACGSSSYVASIVDGGESRSEKGDSSRY", "length": 496, "header": "sp|P0DJD3-1|RBY1A_HUMAN Isoform 1 of RNA-binding motif protein, Y chromosome, family 1 member A1 OS=Homo sapiens OX=9606 GN=RBMY1A1 PE=1 SV=1 CANONICAL=P0DJD3-1" }, "locus": { "chromosome": "Y", "start_pos": 21549045, "end_pos": 21536892, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000382707.6", "url": "https://www.ensembl.org/id/ENST00000382707.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000372154.2", "url": "https://www.ensembl.org/id/ENSP00000372154.2" } ] } }, { "isoform_ac": "P0DJD3-2", "url": "", "sequence": { "sequence": "MVEADHPGKLFIGGLNRETNEKMLKAVFGKHGPISEVLLIKDRTSKSRGFAFITFENPADAKNAAKDMNGKSLHGKAIKVEQAKKPSFQSGGRRRPPASSRNRSPSGSLRSARGSRGGTRGWLPSHEGHLDDGGYTPDLKMSYSRGLIPVKRGPSSRSGGPPPKKSAPSAVARSNSWMGSQGPMSQRRENYGVPPRRATISSWRNDRMSTRHDGYATNDGNHPSCQETRDYAPPSRGYAYRDNGHSNRDEHSSRGYRNHRSSRETRDYAPPSRGHAYRDYGHSRRDESYSRGYRNRRSSRETREYAPPSRGHGYRDYGHSRRHESYSRGYSYHDGYGEALGRDHSEHLSGSSYRDALQRYGTSHGAPPARGPRMSYGGSTCHAYSNTRDRYGRSWESYSSCGDFHYCDREHVCRKDQRNPPSLGRVLPDPREACGSSSYVASIVDGGESRSEKGDSSRY", "length": 459, "header": "sp|P0DJD3-2|RBY1A_HUMAN Isoform 2 of RNA-binding motif protein, Y chromosome, family 1 member A1 OS=Homo sapiens OX=9606 GN=RBMY1A1 PE=1 SV=1 CANONICAL=P0DJD3-1" }, "locus": {} }, { "isoform_ac": "P0DJD3-3", "url": "", "sequence": { "sequence": "MSYSRGLIPVKRGPSSRSGGPPPKKSAPSAVARSNSWMGSQGPMSQRRENYGVPPRRATISSWRNDRMSTRHDGYATNDGNHPSCQETRDYAPPSRGYAYRDNGHSNRDEHSSRGYRNHRSSRETRDYAPPSRGHAYRDYGHSRRDESYSRGYRNRRSSRETREYAPPSRGHGYRDYGHSRRHESYSRGYRNHPSSRETRDYAPPHRDYAYRDYGHSSWDEHSSRGYSYHDGYGEALGRDHSEHLSGSSYRDALQRYGTSHGAPPARGPRMSYGGSTCHAYSNTRDRYGRSWESYSSCGDFHYCDREHVCRKDQRNPPSLGRVLPDPREACGSSSYVASIVDGGESRSEKGDSSRY", "length": 356, "header": "sp|P0DJD3-3|RBY1A_HUMAN Isoform 3 of RNA-binding motif protein, Y chromosome, family 1 member A1 OS=Homo sapiens OX=9606 GN=RBMY1A1 PE=1 SV=1 CANONICAL=P0DJD3-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "T-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA-binding protein implicated in spermatogenesis.", "journal": "Hum. Mol. Genet.", "date": "1999", "authors": "Venables JP, Vernet C, Chew SL, Elliott DJ, Cowmeadow RB, Wu J, Cooke HJ, Artzt K, Eperon IC", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "reference": [ { "type": "PubMed", "id": "10332027", "url": "https://glygen.org/publication/PubMed/10332027" } ] }, { "title": "RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing.", "journal": "Hum. Mol. Genet.", "date": "2000", "authors": "Venables JP, Elliott DJ, Makarova OV, Makarov EM, Cooke HJ, Eperon IC", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "reference": [ { "type": "PubMed", "id": "10749975", "url": "https://glygen.org/publication/PubMed/10749975" } ] }, { "title": "hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1.", "journal": "Human molecular genetics", "date": "2002-08-15", "authors": "Hofmann Yvonne, Wirth Brunhilde", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "reference": [ { "type": "PubMed", "id": "12165565", "url": "https://glygen.org/publication/PubMed/12165565" } ] }, { "title": "The role of potential splicing factors including RBMY, RBMX, hnRNPG-T and STAR proteins in spermatogenesis.", "journal": "Int. J. Androl.", "date": "2004", "authors": "Elliott David J", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "reference": [ { "type": "PubMed", "id": "15595951", "url": "https://glygen.org/publication/PubMed/15595951" } ] }, { "title": "The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction.", "journal": "EMBO Rep.", "date": "2007", "authors": "Skrisovska Lenka, Bourgeois Cyril F, Stefl Richard, Grellscheid Sushma-Nagaraja, Kister Liliane, Wenter Philipp, Elliott David J, Stevenin James, Allain Fr\u00e9d\u00e9ric H-T", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "reference": [ { "type": "PubMed", "id": "17318228", "url": "https://glygen.org/publication/PubMed/17318228" } ] }, { "title": "Copy number variation of functional RBMY1 is associated with sperm motility: an azoospermia factor-linked candidate for asthenozoospermia.", "journal": "Human reproduction (Oxford, England)", "date": "2017", "authors": "Yan Y, Yang X, Liu Y, Shen Y, Tu W, Dong Q, Yang D, Ma Y, Yang Y", "evidence": [ { "database": "RefSeq", "id": "NP_001307873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873" } ], "reference": [ { "type": "PubMed", "id": "28498920", "url": "https://glygen.org/publication/PubMed/28498920" } ] }, { "title": "Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis.", "journal": "Cancer science", "date": "2020", "authors": "Kido T, Tabatabai ZL, Chen X, Lau YC", "evidence": [ { "database": "RefSeq", "id": "NP_001307873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873" } ], "reference": [ { "type": "PubMed", "id": "32473614", "url": "https://glygen.org/publication/PubMed/32473614" } ] }, { "title": "PIM1-Induced Cytoplasmic Expression of RBMY Mediates Hepatocellular Carcinoma Metastasis.", "journal": "Cellular and molecular gastroenterology and hepatology", "date": "2023", "authors": "Chua Huey-Huey, Chang Mei-Hwei, Chen Ya-Hui, Tsuei Daw-Jen, Jeng Yung-Ming, Lee Po-Huang, Ni Yen-Hsuan", "evidence": [ { "database": "RefSeq", "id": "NP_001307873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307873" } ], "reference": [ { "type": "PubMed", "id": "36191855", "url": "https://glygen.org/publication/PubMed/36191855" } ] }, { "title": "A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis.", "journal": "Cell", "date": "1993", "authors": "Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed RM, Thomson EJ, Jobling M, Taylor K, et al.", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "reference": [ { "type": "PubMed", "id": "8269511", "url": "https://glygen.org/publication/PubMed/8269511" } ] }, { "title": "Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1997", "authors": "Elliott DJ, Millar MR, Oghene K, Ross A, Kiesewetter F, Pryor J, McIntyre M, Hargreave TB, Saunders PT, Vogt PH, Chandley AC, Cooke H", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "reference": [ { "type": "PubMed", "id": "9108067", "url": "https://glygen.org/publication/PubMed/9108067" } ] }, { "title": "Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene.", "journal": "Genomics", "date": "1998", "authors": "Chai N N, Zhou H, Hernandez J, Najmabadi H, Bhasin S, Yen P H", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "reference": [ { "type": "PubMed", "id": "9598316", "url": "https://glygen.org/publication/PubMed/9598316" } ] } ], "pathway": [ { "id": "hsa:5940", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5940", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "positive regulation of mRNA splicing, via spliceosome", "id": "GO:0048026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048026", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "P0DJD3", "url": "https://www.uniprot.org/uniprot/P0DJD3" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 102, "end_pos": 104, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 102, "end_pos": 104 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 11 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }