SALL4
entrez
57167
canonical
uniprot
Q9UJQ4
canonical
ensembl
ENSG00000101115
resolver
ensp
ENSP00000217086
resolver
ensp
ENSP00000379319
resolver
genesymbol
SALL4
resolver
genesymbol_syn
ZNF797
resolver
hgnc
HGNC:15924
resolver
uniprot
A2A2D8
resolver
uniprot
Q540H3
resolver
uniprot
Q6Y8G6
resolver
uniprot_entry
SALL4_HUMAN
resolver
uniprot_sec
A2A2D8
resolver
uniprot_sec
Q540H3
resolver
uniprot_sec
Q6Y8G6
resolver
amino_acid_sequence
MSRRKQAKPQHINSEEDQGEQQPQQQTPEFADAAPAAPAAGELGAPVNHPGNDEVASEDEATVKRLRREETHVCEKCCAEFFSISEFLEHKKNCTKNPPVLIMNDSEGPVPSEDFSGAVLSHQPTSPGSKDCHRENGGSSEDMKEKPDAESVVYLKTETALPPTPQDISYLAKGKVANTNVTLQALRGTKVAVNQRSADALPAPVPGANSIPWVLEQILCLQQQQLQQIQLTEQIRIQVNMWASHALHSSGAGADTLKTLGSHMSQQVSAAVALLSQKAGSQGLSLDALKQAKLPHANIPSATSSLSPGLAPFTLKPDGTRVLPNVMSRLPSALLPQAPGSVLFQSPFSTVALDTSKKGKGKPPNISAVDVKPKDEAALYKHKCKYCSKVFGTDSSLQIHLRSHTGERPFVCSVCGHRFTTKGNLKVHFHRHPQVKANPQLFAEFQDKVAAGNGIPYALSVPDPIDEPSLSLDSKPVLVTTSVGLPQNLSSGTNPKDLTGGSLPGDLQPGPSPESEGGPTLPGVGPNYNSPRAGGFQGSGTPEPGSETLKLQQLVENIDKATTDPNECLICHRVLSCQSSLKMHYRTHTGERPFQCKICGRAFSTKGNLKTHLGVHRTNTSIKTQHSCPICQKKFTNAVMLQQHIRMHMGGQIPNTPLPENPCDFTGSEPMTVGENGSTGAICHDDVIESIDVEEVSSQEAPSSSSKVPTPLPSIHSASPTLGFAMMASLDAPGKVGPAPFNLQRQGSRENGSVESDGLTNDSSSLMGDQEYQSRSPDILETTSFQALSPANSQAESIKSKSPDAGSKAESSENSRTEMEGRSSLPSTFIRAPPTYVKVEVPGTFVGPSTLSPGMTPLLAAQPRRQAKQHGCTRCGKNFSSASALQIHERTHTGEKPFVCNICGRAFTTKGNLKVHYMTHGANNNSARRGRKLAIENTMALLGTDGKRVSEIFPKEILAPSVNVDPVVWNQYTSMLNGGLAVKTNEISVIQSGGVPTLPVSLGATSVVNNATVSKMDGSQSGISADVEKPSATDGVPKHQFPHFLEENKIAVS
uniprot
proteins
disease_involvement
DISEASE: Duane-radial ray syndrome (DRRS) [MIM:607323]: Disorder characterized by the association of forearm malformations with Duane retraction syndrome. {ECO:0000269|PubMed:12393809, ECO:0000269|PubMed:12395297, ECO:0000269|PubMed:16402211}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: IVIC syndrome (IVIC) [MIM:147750]: An autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome with a similar phenotype. {ECO:0000269|PubMed:17256792}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells. {ECO:0000269|PubMed:23012367}.
uniprot
proteins
mass_dalton
112231
uniprot
proteins
post_translational_modification
PTM: Isoform SALL4B exists primarily as a ubiquitinated form. {ECO:0000269|PubMed:23012367}.; PTM: Sumoylation with both SUMO1 and SUMO2 regulates the stability, subcellular localization, transcriptional activity, and may reduce interaction with POU5F1/OCT4. {ECO:0000269|PubMed:23012367}.
uniprot
proteins
protein_family
Sal C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12393809
uniprot
proteins
pubmed
12395297
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16402211
uniprot
proteins
pubmed
16545361
uniprot
proteins
pubmed
16763212
uniprot
proteins
pubmed
17256792
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21914818
uniprot
proteins
pubmed
22510880
uniprot
proteins
pubmed
23012367
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
1053
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
uniprot
proteins