SAMD11
entrez
148398
canonical
uniprot
Q96NU1
canonical
ensembl
ENSG00000187634
resolver
ensp
ENSP00000342313
resolver
ensp
ENSP00000478421
resolver
ensp
ENSP00000480678
resolver
enst
ENST00000616016
resolver
enst
ENST00000618323
resolver
genesymbol
SAMD11
resolver
hgnc
HGNC:28706
resolver
uniprot
A0A087WU74
resolver
uniprot
A0A087WX24
resolver
uniprot
A2AA76
resolver
uniprot
I7FV78
resolver
uniprot
I7FV81
resolver
uniprot
I7G0Z6
resolver
uniprot
Q5SV96
resolver
uniprot
Q5SV99
resolver
uniprot
Q5SVA0
resolver
uniprot
Q8N195
resolver
uniprot
Q8TB59
resolver
uniprot_entry
A0A087WU74_HUMAN
resolver
uniprot_entry
A0A087WX24_HUMAN
resolver
uniprot_entry
SAM11_HUMAN
resolver
uniprot_sec
A2AA76
resolver
uniprot_sec
I7FV78
resolver
uniprot_sec
I7FV81
resolver
uniprot_sec
I7G0Z6
resolver
uniprot_sec
Q5SV96
resolver
uniprot_sec
Q5SV99
resolver
uniprot_sec
Q5SVA0
resolver
uniprot_sec
Q8N195
resolver
uniprot_sec
Q8TB59
resolver
amino_acid_sequence
MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDGSGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHLVMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPRELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRVRQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLSPQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPADLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGPPTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVGCRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDVTKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQVARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSPKQENGTLALLPGAPDPSQPLC
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa (RP) [MIM:268000]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Retinitis pigmentosa can be inherited as an autosomal dominant, autosomal recessive or X-linked condition. {ECO:0000269|PubMed:27734943}. Note=Disease susceptibility may be associated with 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. {ECO:0000250|UniProtKB:Q1RNF8}.
uniprot
proteins
mass_dalton
72708
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23978614
uniprot
proteins
pubmed
27734943
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
681
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q1RNF8}.
uniprot
proteins