{ "uniprot_canonical_ac": "A2AD83-1", "sequence": { "header": "sp|A2AD83-1|FRMD7_MOUSE Isoform 1 of FERM domain-containing protein 7 OS=Mus musculus OX=10090 GN=Frmd7 PE=1 SV=1 CANONICAL=A2AD83-1", "length": 703, "sequence": "MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCGHLNLAEKEYFGLEFCSHSGNNVWLELLKPITKQVKNPKEVVFKFMVKFFPVDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTALMVSHILQSELGDFHEETVRKHLVQTQYLPSQASLESKIMQFHQQHIGRSPAESDILLLDIARKLDMYGIRPQPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNWAKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFRYSGRTQRQLLEYGKKGRLKSLPFERKQYPSQYHERQCRSSPDILSDVSKQVEDLRLTYGSSYYRNVNGVHASESMLDSRRRNSAVEVTFAAELEHSKPEAEATSLHPSQSSSSFTFIYADPVFNTDPEPIEFFEERSPLSSFQTTSKFADSHTSKASPARQLTYTDVPYIPCTSQKVDIMPPQVFFYVDKPPQVPRRSLIMAEENMRPDSYVDHSAIKPAKRSPRNMRIKSLQQDLQELQEAMARTSGRSNINVEPEEEDPHLDDAFAYNLQEQTPKRSQSQSDMKTIRFPFGSEFRPLGPCPALTRKTDLFACTFAEQEFPTVLIDQSSAERYVASESSDSESEIIKPDYYFLYGKGTKSPRARIRLSSGSLQLEEEDETISFATPGAEDRTLLKPCNYFLA" }, "uniprot_id": "FRMD7_MOUSE", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "FERM domain-containing protein 7" ], "uniprotkb": [ "FERM domain-containing protein 7" ] }, "gene": { "refseq": [ "Frmd7", "EG665849", "Gm1533" ], "uniprotkb": [ "Frmd7", "EG665849", "Gm1533" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "id": "A2AD83", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "recommendedname": { "full": "FERM domain-containing protein 7." }, "publication": [ { "title": "Causal evidence for retina-dependent and -independent visual motion computations in mouse cortex.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/28530661", "journal": "Nature neuroscience", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "id": "NP_001177261.1", "database": "RefSeq" } ], "authors": "Hillier D, Fiscella M, Drinnenberg A, Trenholm S, Rompani SB, Raics Z, Katona G, Juettner J, Hierlemann A, Rozsa B, Roska B", "date": "2017", "pmid": "28530661" }, { "title": "Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26711119", "journal": "Neuron", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "id": "NP_001177261.1", "database": "RefSeq" } ], "authors": "Yonehara K, Fiscella M, Drinnenberg A, Esposti F, Trenholm S, Krol J, Franke F, Scherf BG, Kusnyerik A, Muller J, Szabo A, Juttner J, Cordoba F, Reddy AP, Nemeth J, Nagy ZZ, Munier F, Hierlemann A, Roska B", "date": "2016", "pmid": "26711119" }, { "title": "Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22128244", "journal": "Molecular vision", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "id": "NP_001177261.1", "database": "RefSeq" } ], "authors": "Li Y, Pu J, Liu Z, Xu S, Jin F, Zhu L, Tian J, Luo J, Zhang B", "date": "2011", "pmid": "22128244" }, { "title": "Frmd7 expression in developing mouse brain.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19265863", "journal": "Eye (London, England)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "id": "NP_001177261.1", "database": "RefSeq" } ], "authors": "Self J, Haitchi HM, Griffiths H, Holgate ST, Davies DE, Lotery A", "date": "2010", "pmid": "19265863" }, { "title": "The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19892780", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "id": "NP_001177261.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AD83/publications", "id": "A2AD83", "database": "UniProtKB" } ], "authors": "Betts-Henderson J, Bartesaghi S, Crosier M, Lindsay S, Chen HL, Salomoni P, Gottlob I, Nicotera P", "date": "2010", "pmid": "19892780" } ], "glycosylation": [], "mutation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AD83#A2AD83-1", "isoform_ac": "A2AD83-1", "locus": { "end_pos": 50895183, "start_pos": 50942710, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000060650", "id": "ENSMUST00000060650", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000057103", "id": "ENSMUSP00000057103", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AD83-1|FRMD7_MOUSE Isoform 1 of FERM domain-containing protein 7 OS=Mus musculus OX=10090 GN=Frmd7 PE=1 SV=1 CANONICAL=A2AD83-1", "length": 703, "sequence": "MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCGHLNLAEKEYFGLEFCSHSGNNVWLELLKPITKQVKNPKEVVFKFMVKFFPVDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTALMVSHILQSELGDFHEETVRKHLVQTQYLPSQASLESKIMQFHQQHIGRSPAESDILLLDIARKLDMYGIRPQPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNWAKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFRYSGRTQRQLLEYGKKGRLKSLPFERKQYPSQYHERQCRSSPDILSDVSKQVEDLRLTYGSSYYRNVNGVHASESMLDSRRRNSAVEVTFAAELEHSKPEAEATSLHPSQSSSSFTFIYADPVFNTDPEPIEFFEERSPLSSFQTTSKFADSHTSKASPARQLTYTDVPYIPCTSQKVDIMPPQVFFYVDKPPQVPRRSLIMAEENMRPDSYVDHSAIKPAKRSPRNMRIKSLQQDLQELQEAMARTSGRSNINVEPEEEDPHLDDAFAYNLQEQTPKRSQSQSDMKTIRFPFGSEFRPLGPCPALTRKTDLFACTFAEQEFPTVLIDQSSAERYVASESSDSESEIIKPDYYFLYGKGTKSPRARIRLSSGSLQLEEEDETISFATPGAEDRTLLKPCNYFLA" } }, { "url": "https://www.uniprot.org/uniprot/A2AD83#E9PXK8-1", "isoform_ac": "E9PXK8-1", "locus": { "end_pos": 50909829, "start_pos": 50942710, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000164311", "id": "ENSMUST00000164311", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000126628", "id": "ENSMUSP00000126628", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PXK8-1|FRMD7_MOUSE Computationally mapped isoform of FERM domain-containing protein 7 OS=Mus musculus OX=10090 GN=Frmd7 PE=1 SV=1 CANONICAL=A2AD83-1", "length": 85, "sequence": "MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCGHLNLAEKEYFGLEFCSHSGNNVWLELLKPITKQVKSKYGRSLKGWGIFLLFK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:385354", "resource": "KEGG Pathway", "id": "mmu:385354", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2AD83#function", "annotation": "Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83#function", "id": "A2AD83", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "annotation": "FRMD7 as a key regulator in establishing a neuronal circuit asymmetry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "id": "NP_001177261.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "annotation": "A novel splice variant of FRMD7 (FRMD7-S) with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL) was identified from the cDNA of the human NT2 cell line and mouse fetal brain.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "id": "NP_001177261.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "annotation": "FRMD7 expression is spatially and temporally regulated in human and mouse brain during embryonic and fetal development.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "id": "NP_001177261.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "F1M1Y3-1", "protein_name": "FERM domain-containing 7.", "sequence": { "length": 703, "sequence": "MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCSHLNLAEKEYFGLEFCSHSGHNVWLELLKPITKQVKNPKEVVFKFIVKFFPVDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTALMVSHILQSELGDFHEEMVRKHLVQTQYLPSQACLESKIMQFHQQHIGRSPAESDILLLDIARKLDMYGIRPQPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNWAKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFRYSGRTQRQLLEYGKKGRLKSLPFERKQYPSQYHERQCRSSPDILSDVSKQVEDLRLTYGSSYYRNVNGVHASEPMLDGRRRNSAVEVTFAAELEHSKPEAEAASLHPSQSSSSFTFIYADPVFNTDPEPIDFFEERSPLSSFQTNSKFVDGHTSKVSPARQLTYTDVPYIPCTSQKVDIMPPQVFFYVDKPPQVPRRSLMMAEESMRPDSYVDPSAIKPAKRSPRNMRIKSLQQDLQELQEAMARTSGRSNINVEPEEEDPHLDDAFAYNLQEQTPKRSQSQSDMKTIRFPFGSEFRPLGPCPALTRKTDLFTCTFAEQEFPTVLMDQSSAERYVASESSDSESEILKTDYYSLYGKGTKSPRARIRLSSGSLQLEEEDEAISFGTPGAEDRTLLKPCNYFLA" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2AD83/", "id": "A2AD83", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18855", "id": "18855", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q6ZUT3-1", "protein_name": "FERM domain-containing protein 7.", "sequence": { "length": 714, "sequence": "MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCSHLNLAEKEYFGLEFCSHSGNNVWLELLKPITKQVKNPKEIVFKFMVKFFPVDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTALMVSHILQSELGDFHEETDRKHLAQTRYLPNQDCLEGKIMHFHQKHIGRSPAESDILLLDIARKLDMYGIRPHPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNWAKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFRYSGRTQRQLLEYGRKGRLKSLPFERKHYPSQYHERQCRSSPDLLSDVSKQVEDLRLAYGGGYYQNVNGVHASEPVLESRRRNSALEVTFATELEHSKPEADPTLLHQSQSSSSFPFIYMDPVFNTEPNPNPDPRDIFSERSSLSSFQTSCKFSGNHMSIYSGLTSKVRPAKQLTYTDVPYIPCTGQQVGIMPPQVFFYVDKPPQVPRWSPIRAEERTSPHSYVEPTAMKPAERSPRNIRMKSFQQDLQVLQEAIARTSGRSNINVGLEEEDPNLEDAFVCNIQEQTPKRSQSQSDMKTIRFPFGSEFRPLGPCPALSHKADLFTDMFAEQELPAVLMDQSTAERYVASESSDSESEILKPDYYALYGKEIRSPMARIRLSSGSLQLDEEDEDAYFNTPTAEDRTSLKPCNYFLA" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2AD83/", "id": "A2AD83", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18855", "id": "18855", "database": "MGI" } ], "organism": "Homo sapiens", "tax_id": 9606 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "ac": "NP_001177261.1", "name": "FERM domain-containing protein 7.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "id": "A2AD83", "database": "UniProtKB" } ], "name": "growth cone", "id": "GO:0030426" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "id": "A2AD83", "database": "UniProtKB" } ], "name": "neuronal cell body", "id": "GO:0043025" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "id": "A2AD83", "database": "UniProtKB" } ], "name": "neuron projection", "id": "GO:0043005" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "id": "A2AD83", "database": "UniProtKB" } ], "name": "cytoskeleton", "id": "GO:0005856" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051057", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "id": "A2AD83", "database": "UniProtKB" } ], "name": "positive regulation of small GTPase mediated signal transduction", "id": "GO:0051057" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032091", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "id": "A2AD83", "database": "UniProtKB" } ], "name": "negative regulation of protein binding", "id": "GO:0032091" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "id": "A2AD83", "database": "UniProtKB" } ], "name": "regulation of neuron projection development", "id": "GO:0010975" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "id": "A2AD83", "database": "UniProtKB" } ], "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051497", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "id": "A2AD83", "database": "UniProtKB" } ], "name": "negative regulation of stress fiber assembly", "id": "GO:0051497" } ], "total": 5, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 31, "annotation": "n_glycosylation_sequon", "start_pos": 29 }, { "end_pos": 118, "annotation": "n_glycosylation_sequon", "start_pos": 116 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177261.1", "id": "NP_001177261.1", "database": "RefSeq" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:385354", "id": "mmu:385354", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000036131", "id": "ENSMUSG00000036131", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/DIMPPQV/", "id": "DIMPPQV", "database": "OMA" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14473", "id": "cd14473", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd13193", "id": "cd13193", "database": "CDD" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "id": "IPR011993", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029071", "id": "IPR029071", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014352", "id": "IPR014352", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000299", "id": "IPR000299", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014847", "id": "IPR014847", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018979", "id": "IPR018979", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018980", "id": "IPR018980", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019747", "id": "IPR019747", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019748", "id": "IPR019748", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019749", "id": "IPR019749", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035963", "id": "IPR035963", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR041788", "id": "IPR041788", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF00373", "id": "PF00373", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF08736", "id": "PF08736", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF09379", "id": "PF09379", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF09380", "id": "PF09380", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2AD83", "id": "PR_A2AD83", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/385354", "id": "385354", "database": "GeneID" }, { "url": "http://www.informatics.jax.org/marker/MGI:2686379", "id": "2686379", "database": "MGI" } ], "expression_disease": [], "uniprot_ac": "A2AD83", "disease": [], "mass": { "monoisotopic_mass": 80330.0, "chemical_mass": 80330.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AD83", "name": "Frmd7; EG665849; Gm1533.", "locus": { "end_pos": 50895180, "start_pos": 50942710, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000036131", "id": "ENSMUSG00000036131", "database": "Ensembl Gene" } ] } } ] }