{ "uniprot_canonical_ac": "O14645-1", "uniprot_ac": "O14645", "uniprot_id": "IDLC_HUMAN", "mass": { "chemical_mass": 29662.0, "monoisotopic_mass": 29662.0 }, "refseq": { "ac": "NP_003453", "name": "axonemal dynein light intermediate polypeptide 1", "summary": "This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453" }, "gene_names": [ { "name": "DNALI1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14645", "id": "O14645" }, { "name": "DNALI1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453", "id": "NP_003453" }, { "name": "dJ423B22.5; hp28; P28; SPGF83", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453", "id": "NP_003453" } ], "protein_names": [ { "name": "Axonemal dynein light intermediate polypeptide 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14645" }, { "name": "Inner dynein arm light chain, axonemal", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14645" }, { "name": "axonemal dynein light intermediate polypeptide 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453", "id": "NP_003453" }, { "name": "dynein, axonemal, light intermediate polypeptide 1; inner dynein arm, homolog of clamydomonas; dJ423B22.5 (axonemal dynein light chain (hp28)); inner dynein arm light chain, axonemal; inner dynein arm, homolog of chlamydomonas", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453", "id": "NP_003453" }, { "name": "hp28", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14645" } ], "function": [ { "annotation": "ADAP coprecipitates with dynein from activated Jurkat cells, and loss of ADAP prevents microtubule-organizing center (MTOC) translocation and the specific recruitment of dynein to the synapse.", "evidence": [ { "database": "RefSeq", "id": "NP_003453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453" }, { "database": "PubMed", "id": "16990435", "url": "https://glygen.org/publication/PubMed/16990435" } ] }, { "annotation": "DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453" }, { "database": "PubMed", "id": "36792588", "url": "https://glygen.org/publication/PubMed/36792588" } ] }, { "annotation": "DNALI1 is a prognosis-related biomarker and correlates with immune infiltrates in low grade glioma.", "evidence": [ { "database": "RefSeq", "id": "NP_003453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453" }, { "database": "PubMed", "id": "37955080", "url": "https://glygen.org/publication/PubMed/37955080" } ] }, { "annotation": "Involved in sperm flagellum assembly.", "evidence": [ { "database": "UniProtKB", "id": "O14645", "url": "https://www.uniprot.org/uniprot/O14645#function" }, { "database": "PubMed", "id": "36792588", "url": "https://glygen.org/publication/PubMed/36792588" } ] }, { "annotation": "May play a dynamic role in flagellar motility.", "evidence": [ { "database": "UniProtKB", "id": "A0A499FIY3", "url": "https://www.uniprot.org/uniprot/A0A499FIY3#function" }, { "database": "UniProtKB", "id": "ARBA00037647", "url": "https://www.uniprot.org/uniprot/ARBA00037647#function" } ] }, { "annotation": "This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453" } ] } ], "disease": [ { "disease_id": "MONDO:0957250", "recommended_name": { "id": "MONDO:0957250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0957250", "name": "spermatogenic failure 83", "description": "" }, "synonyms": [ { "id": "MIM:620354", "resource": "MIM", "url": "https://www.omim.org/entry/620354", "name": "Spermatogenic failure 83", "description": "Spermatogenic failure 83" } ], "evidence": [ { "id": "620354", "database": "MIM", "url": "https://www.omim.org/entry/620354" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163879", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163879" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "45.04", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000163879", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163879" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "72.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163879", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163879" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163879", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163879" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "76.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163879", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163879" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "74.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163879", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163879" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163879", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163879" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163879", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163879" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163879", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163879" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163879", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163879" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14645", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14645" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": 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"MIPPADSLLKYDTPVLVSRNTEKRSPKARLLKVSPQQPGPSGSAPQPPKTKLPSTPCVPDPTKQAEEILNAILPPREWVEDTQLWIQQVSSTPSTRMDVVHLQEQLDLKLQQRQARETGICPVRRELYSQCFDELIREVTINCAERGLLLLRVRDEIRMTIAAYQTLYESSVAFGMRKALQAEQGKSDMERKIAELETEKRDLERQVNEQKAKCEATEKRESERRQVEEKKHNEEIQFLKRTNQQLKAQLEGIIAPKK", "length": 258, "header": "sp|O14645-1|IDLC_HUMAN Isoform 1 of Axonemal dynein light intermediate polypeptide 1 OS=Homo sapiens OX=9606 GN=DNALI1 PE=1 SV=2 CANONICAL=O14645-1" }, "isoforms": [ { "isoform_ac": "A0A499FIY3-1", "url": "", "sequence": { "sequence": "MVTANKAHTGQGSCWVATLASAMIPPADSLLKYDTPVLVSRNTEKRSPKARLLKVSPQQPGPSGSAPQPPKTKLPSTPCVPDPTKQAEEILNAILPPREWVEDTQLWIQQVSSTPSTRMDVVHLQEQLDLKLQQRQARETGICPVRRELYSQCFDELIREVTINCAERGLLLLRVRDEIRMTIAAYQTLYESSVAFGMRKALQAEQGKSDMERKIAELETEKRDLERQVNEQKAKCEATEKRESERRQVEEKKHNEEIQFLKRTNQQLKAQLEGIIAPKK", "length": 280, "header": "tr|A0A499FIY3-1|IDLC_HUMAN Computationally mapped isoform of Axonemal dynein light intermediate polypeptide 1 OS=Homo sapiens OX=9606 GN=DNALI1 PE=1 SV=1 CANONICAL=O14645-1" }, "locus": { "chromosome": "1", "start_pos": 37565058, "end_pos": 37556929, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000296218.8", "url": "https://www.ensembl.org/id/ENST00000296218.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000296218.7", "url": "https://www.ensembl.org/id/ENSP00000296218.7" } ] } }, { "isoform_ac": "O14645-1", "url": "", "sequence": { "sequence": "MIPPADSLLKYDTPVLVSRNTEKRSPKARLLKVSPQQPGPSGSAPQPPKTKLPSTPCVPDPTKQAEEILNAILPPREWVEDTQLWIQQVSSTPSTRMDVVHLQEQLDLKLQQRQARETGICPVRRELYSQCFDELIREVTINCAERGLLLLRVRDEIRMTIAAYQTLYESSVAFGMRKALQAEQGKSDMERKIAELETEKRDLERQVNEQKAKCEATEKRESERRQVEEKKHNEEIQFLKRTNQQLKAQLEGIIAPKK", "length": 258, "header": "sp|O14645-1|IDLC_HUMAN Isoform 1 of Axonemal dynein light intermediate polypeptide 1 OS=Homo sapiens OX=9606 GN=DNALI1 PE=1 SV=2 CANONICAL=O14645-1" }, "locus": { "chromosome": "1", "start_pos": 37565058, "end_pos": 37556995, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652629.1", "url": "https://www.ensembl.org/id/ENST00000652629.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498620.1", "url": "https://www.ensembl.org/id/ENSP00000498620.1" } ] } }, { "isoform_ac": "O14645-2", "url": "", "sequence": { "sequence": "MPYYPQDELIREVTINCAERGLLLLRVRDEIRMTIAAYQTLYESSVAFGMRKALQAEQGKSDMERKIAELETEKRDLERQVNEQKAKCEATEKRESERRQVEEKKHNEEIQFLKRTNQQLKAQLEGIIAPKK", "length": 132, "header": "sp|O14645-2|IDLC_HUMAN Isoform 2 of Axonemal dynein light intermediate polypeptide 1 OS=Homo sapiens OX=9606 GN=DNALI1 PE=1 SV=2 CANONICAL=O14645-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O14645", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14645" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O14645", "url": "https://www.uniprot.org/uniprot/O14645" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Recruitment of dynein to the Jurkat immunological synapse.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Combs J, Kim SJ, Tan S, Ligon LA, Holzbaur EL, Kuhn J, Poenie M", "evidence": [ { "database": "RefSeq", "id": "NP_003453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453" } ], "reference": [ { "type": "PubMed", "id": "16990435", "url": "https://glygen.org/publication/PubMed/16990435" } ] }, { "title": "Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex subunit, cause primary ciliary dyskinesia with axonemal disorganization.", "journal": "Hum. Mutat.", "date": "2016", "authors": "Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Dastot-Le Moal F, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, Legendre M", "evidence": [ { "database": "UniProtKB", "id": "O14645", "url": "https://www.uniprot.org/uniprot/O14645" } ], "reference": [ { "type": "PubMed", "id": "27120127", "url": "https://glygen.org/publication/PubMed/27120127" } ] }, { "title": "Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.", "journal": "Am. J. Hum. Genet.", "date": "2019", "authors": "Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Toure A, Legendre M", "evidence": [ { "database": "UniProtKB", "id": "O14645", "url": "https://www.uniprot.org/uniprot/O14645" } ], "reference": [ { "type": "PubMed", "id": "31178125", "url": "https://glygen.org/publication/PubMed/31178125" } ] }, { "title": "CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.", "journal": "Nat. Commun.", "date": "2020", "authors": "Dougherty GW, Mizuno K, Nothe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strunker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Grosse-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Hoben IM, Junger K, Gutzlaff J, Cindric S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H", "evidence": [ { "database": "UniProtKB", "id": "O14645", "url": "https://www.uniprot.org/uniprot/O14645" } ], "reference": [ { "type": "PubMed", "id": "33139725", "url": "https://glygen.org/publication/PubMed/33139725" } ] }, { "title": "DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath.", "journal": "Cell death & disease", "date": "2023-02-15", "authors": "Wu Huan, Liu Yiyuan, Li Yuqian, Li Kuokuo, Xu Chuan, Gao Yang, Lv Mingrong, Guo Rui, Xu Yuping, Zhou Ping, Wei Zhaolian, Hua Rong, He Xiaojin, Cao Yunxia", "evidence": [ { "database": "UniProtKB", "id": "O14645", "url": "https://www.uniprot.org/uniprot/O14645" }, { "database": "RefSeq", "id": "NP_003453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453" } ], "reference": [ { "type": "PubMed", "id": "36792588", "url": "https://glygen.org/publication/PubMed/36792588" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14645", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14645" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "DNALI1 is a prognosis-related biomarker and correlates with immune infiltrates in low grade glioma.", "journal": "Cancer biomarkers : section A of Disease markers", "date": "2023", "authors": "Lu Yapeng, Chang Panpan, Bian Jiangpei, Zhu Li", "evidence": [ { "database": "RefSeq", "id": "NP_003453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003453" } ], "reference": [ { "type": "PubMed", "id": "37955080", "url": "https://glygen.org/publication/PubMed/37955080" } ] }, { "title": "Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene.", "journal": "J. Clin. Endocrinol. 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