SOX5
entrez
6660
canonical
uniprot
P35711
canonical
ensembl
ENSG00000134532
resolver
ensp
ENSP00000379328
resolver
ensp
ENSP00000398273
resolver
ensp
ENSP00000439832
resolver
ensp
ENSP00000443520
resolver
ensp
ENSP00000493866
resolver
ensp
ENSP00000515822
resolver
ensp
ENSP00000515823
resolver
enst
ENST00000537393
resolver
genesymbol
SOX5
resolver
hgnc
HGNC:11201
resolver
uniprot
B7Z8V0
resolver
uniprot
F5H0I3
resolver
uniprot
F5H5B0
resolver
uniprot
Q86UK8
resolver
uniprot
Q8J017
resolver
uniprot
Q8J018
resolver
uniprot
Q8J019
resolver
uniprot
Q8J020
resolver
uniprot
Q8N1D9
resolver
uniprot
Q8N7E0
resolver
uniprot
Q8TEA4
resolver
uniprot
T2CYZ2
resolver
uniprot_entry
F5H0I3_HUMAN
resolver
uniprot_entry
SOX5_HUMAN
resolver
uniprot_entry
T2CYZ2_HUMAN
resolver
uniprot_sec
B7Z8V0
resolver
uniprot_sec
F5H5B0
resolver
uniprot_sec
Q86UK8
resolver
uniprot_sec
Q8J017
resolver
uniprot_sec
Q8J018
resolver
uniprot_sec
Q8J019
resolver
uniprot_sec
Q8J020
resolver
uniprot_sec
Q8N1D9
resolver
uniprot_sec
Q8N7E0
resolver
uniprot_sec
Q8TEA4
resolver
amino_acid_sequence
MLTDPDLPQEFERMSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPNKPHSEEFQPVSLLTQETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQSGESLSSTALGTPERRKGSLADVVDTLKQRKMEELIKNEPEETPSIEKLLSKDWKDKLLAMGSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKKLAASQIEKQRQQMELAKQQQEQIARQQQQLLQQQHKINLLQQQIQVQGQLPPLMIPVFPPDQRTLAAAAQQGFLLPPGFSYKAGCSDPYPVQLIPTTMAAAAAATPGLGPLQLQQLYAAQLAAMQVSPGGKLPGIPQGNLGAAVSPTSIHTDKSTNSPPPKSKDEVAQPLNLSAKPKTSDGKSPTSPTSPHMPALRINSGAGPLKASVPAALASPSARVSTIGYLNDHDAVTKAIQEARQMKEQLRREQQVLDGKVAVVNSLGLNNCRTEKEKTTLESLTQQLAVKQNEEGKFSHAMMDFNLSGDSDGSAGVSESRIYRESRGRGSNEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKAMTNLEKQPYYEEQARLSKQHLEKYPDYKYKPRPKRTCLVDGKKLRIGEYKAIMRNRRQEMRQYFNVGQQAQIPIATAGVVYPGAIAMAGMPSPHLPSEHSSVSSSPEPGMPVIQSTYGVKGEEPHIKEEIQAEDINGEIYDEYDEEEDDPDVDYGSDSENHIAGQAN
uniprot
proteins
disease_involvement
DISEASE: Lamb-Shaffer syndrome (LAMSHF) [MIM:616803]: An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present. {ECO:0000269|PubMed:22290657, ECO:0000269|PubMed:23220431, ECO:0000269|PubMed:23498568, ECO:0000269|PubMed:26111154}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes, such as COL2A1 and AGC1. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX6, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene. {ECO:0000250|UniProtKB:P35710}.
uniprot
proteins
mass_dalton
84026
uniprot
proteins
pubmed
12406576
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1614875
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21220648
uniprot
proteins
pubmed
22290657
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23220431
uniprot
proteins
pubmed
23498568
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26111154
uniprot
proteins
pubmed
8812465
uniprot
proteins
sequence_length
763
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P35710}.
uniprot
proteins