SALL1
entrez
6299
canonical
uniprot
Q9NSC2
canonical
ensembl
ENSG00000103449
resolver
ensp
ENSP00000251020
resolver
ensp
ENSP00000407914
resolver
ensp
ENSP00000456777
resolver
ensp
ENSP00000509873
resolver
genesymbol
SALL1
resolver
genesymbol_syn
SAL1
resolver
genesymbol_syn
ZNF794
resolver
hgnc
HGNC:10524
resolver
uniprot
Q99881
resolver
uniprot
Q9NSC3
resolver
uniprot
Q9P1R0
resolver
uniprot_entry
SALL1_HUMAN
resolver
uniprot_sec
Q99881
resolver
uniprot_sec
Q9NSC3
resolver
uniprot_sec
Q9P1R0
resolver
amino_acid_sequence
MSRRKQAKPQHFQSDPEVASLPRRDGDTEKGQPSRPTKSKDAHVCGRCCAEFFELSDLLLHKKNCTKNQLVLIVNENPASPPETFSPSPPPDNPDEQMNDTVNKTDQVDCSDLSEHNGLDREESMEVEAPVANKSGSGTSSGSHSSTAPSSSSSSSSSSGGGGSSSTGTSAITTSLPQLGDLTTLGNFSVINSNVIIENLQSTKVAVAQFSQEARCGGASGGKLAVPALMEQLLALQQQQIHQLQLIEQIRHQILLLASQNADLPTSSSPSQGTLRTSANPLSTLSSHLSQQLAAAAGLAQSLASQSASISGVKQLPPIQLPQSSSGNTIIPSNSGSSPNMNILAAAVTTPSSEKVASSAGASHVSNPAVSSSSSPAFAISSLLSPASNPLLPQQASANSVFPSPLPNIGTTAEDLNSLSALAQQRKSKPPNVTAFEAKSTSDEAFFKHKCRFCAKVFGSDSALQIHLRSHTGERPFKCNICGNRFSTKGNLKVHFQRHKEKYPHIQMNPYPVPEHLDNIPTSTGIPYGMSIPPEKPVTSWLDTKPVLPTLTTSVGLPLPPTLPSLIPFIKTEEPAPIPISHSATSPPGSVKSDSGGPESATRNLGGLPEEAEGSTLPPSGGKSEESGMVTNSVPTASSSVLSSPAADCGPAGSATTFTNPLLPLMSEQFKAKFPFGGLLDSAQASETSKLQQLVENIDKKATDPNECIICHRVLSCQSALKMHYRTHTGERPFKCKICGRAFTTKGNLKTHYSVHRAMPPLRVQHSCPICQKKFTNAVVLQQHIRMHMGGQIPNTPVPDSYSESMESDTGSFDEKNFDDLDNFSDENMEDCPEGSIPDTPKSADASQDSLSSSPLPLEMSSIAALENQMKMINAGLAEQLQASLKSVENGSIEGDVLTNDSSSVGGDMESQSAGSPAISESTSSMQALSPSNSTQEFHKSPSIEEKPQRAVPSEFANGLSPTPVNGGALDLTSSHAEKIIKEDSLGILFPFRDRGKFKNTACDICGKTFACQSALDIHYRSHTKERPFICTVCNRGFSTKGNLKQHMLTHQMRDLPSQLFEPSSNLGPNQNSAVIPANSLSSLIKTEVNGFVHVSPQDSKDTPTSHVPSGPLSSSATSPVLLPALPRRTPKQHYCNTCGKTFSSSSALQIHERTHTGEKPFACTICGRAFTTKGNLKVHMGTHMWNSTPARRGRRLSVDGPMTFLGGNPVKFPEMFQKDLAARSGSGDPSSFWNQYAAALSNGLAMKANEISVIQNGGIPPIPGSLGSGNSSPVSGLTGNLERLQNSEPNAPLAGLEKMASSENGTNFRFTRFVEDSKEIVTS
uniprot
proteins
disease_involvement
DISEASE: Townes-Brocks syndrome 1 (TBS1) [MIM:107480]: A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. {ECO:0000269|PubMed:10533063, ECO:0000269|PubMed:9425907, ECO:0000269|PubMed:9973281}. Note=The disease is caused by variants affecting the gene represented in this entry. The pathogenic mechanism includes abnormal interactions of mutant SALL1 protein with proteins that control cilium formation and function, resulting in ciliary defects (PubMed:32553112). Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS1 and bronchio-oto-renal syndrome (PubMed:10928856). Clinical features include dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, hypospadias, and mild developmental delay (PubMed:10928856). Affected individuals lack the characteristic anal or hand malformations of TBS1 (PubMed:10928856). {ECO:0000269|PubMed:10928856, ECO:0000269|PubMed:32553112}.
uniprot
proteins
function
FUNCTION: Transcriptional repressor involved in organogenesis. Plays an essential role in ureteric bud invasion during kidney development. {ECO:0000250|UniProtKB:Q9ER74}.
uniprot
proteins
mass_dalton
140405
uniprot
proteins
protein_family
Sal C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
10533063
uniprot
proteins
pubmed
10928856
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16545361
uniprot
proteins
pubmed
18297069
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
32553112
uniprot
proteins
pubmed
8975705
uniprot
proteins
pubmed
9425907
uniprot
proteins
pubmed
9973281
uniprot
proteins
sequence_length
1324
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9ER74}.
uniprot
proteins