SAMD7
entrez
344658
canonical
uniprot
Q7Z3H4
canonical
ensembl
ENSG00000187033
resolver
ensp
ENSP00000334668
resolver
ensp
ENSP00000391299
resolver
enst
ENST00000335556
resolver
enst
ENST00000428432
resolver
genesymbol
SAMD7
resolver
hgnc
HGNC:25394
resolver
uniprot_entry
SAMD7_HUMAN
resolver
amino_acid_sequence
MAVNPLLTPTGQQTIPLIPSPFGPPTVDRDVLPSTVAPTDPRQFCVPSQFGSSVLPNTNMANVLSSRIYPGWGILPPESIKAVARRNEMIQRHHTARTEMEMYAIYQQRRMEKINPKGLAGLGIPFLYGSSVPAAPAAYHGRSMLPAGDLHFHRSTLRNLQGNPMLAATAPHFEESWGQRCRRLRKNTGNQKALDSDAESSKSQAEEKILGQTHAVPYEEDHYAKDPDIEAPSNQKSSETNEKPTTALANTCGELEPTHRKPWGSHTTTLKAKAWDDGKEEASEQIFATCDEKNGVCPPVPRPSLPGTHALVTIGGNLSLDEDIQKWTVDDVHSFIRSLPGCSDYAQVFKDHAIDGETLPLLTEEHLRGTMGLKLGPALKIQSQVSQHVGSMFYKKTLSFPIRQAFDQPADTSPLLDPNSWSDTMNIFCPQDTIIPKGIERGSMRN
uniprot
proteins
disease_involvement
DISEASE: Macular dystrophy with or without cone dysfunction (MDCD) [MIM:620762]: A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. MDCD is a progressive, autosomal recessive form characterized by reduced visual acuity and macular atrophy involving the fovea. Some patients also exhibit mild generalized cone dysfunction. {ECO:0000269|PubMed:38272031}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, essential for establishing rod photoreceptor cell identity and function by silencing nonrod gene expression in developing rod photoreceptor cells. Via its association with the PRC1-like complex, promotes epigenetic repressive marks H3K27me3 and H2AK119ub marks in nonrod genes, silencing their transcription. Represses Crx-controlled photoreceptor-specific gene expression. {ECO:0000250|UniProtKB:Q8C8Y5}.
uniprot
proteins
mass_dalton
49112
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
26887858
uniprot
proteins
pubmed
38272031
uniprot
proteins
sequence_length
446
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:38272031}. Cytoplasm {ECO:0000250|UniProtKB:Q8C8Y5}. Note=Co-localizes with PHC2 and RNF2 in nuclear polycomb bodies. {ECO:0000250|UniProtKB:Q8C8Y5}.
uniprot
proteins