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Protein

Sal-like protein 1

Gene

SALL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcriptional repressor involved in organogenesis.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri449 – 471C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri477 – 499C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri706 – 728C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri734 – 756C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri766 – 788C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1001 – 1023C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1029 – 1051C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1134 – 1156C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1162 – 1184C2H2-type 9PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

  • adrenal gland development Source: UniProtKB
  • branching involved in ureteric bud morphogenesis Source: UniProtKB
  • embryonic digestive tract development Source: UniProtKB
  • embryonic digit morphogenesis Source: UniProtKB
  • gonad development Source: UniProtKB
  • heart development Source: UniProtKB
  • histone deacetylation Source: GOC
  • inductive cell-cell signaling Source: UniProtKB
  • kidney development Source: UniProtKB
  • kidney epithelium development Source: UniProtKB
  • limb development Source: UniProtKB
  • mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • neurogenesis Source: GO_Central
  • olfactory bulb interneuron differentiation Source: UniProtKB
  • olfactory bulb mitral cell layer development Source: UniProtKB
  • olfactory nerve development Source: UniProtKB
  • outer ear morphogenesis Source: UniProtKB
  • pituitary gland development Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • positive regulation of Wnt signaling pathway Source: UniProtKB
  • somatic stem cell population maintenance Source: Reactome
  • transcription, DNA-templated Source: UniProtKB-KW
  • ureteric bud development Source: UniProtKB
  • ureteric bud invasion Source: UniProtKB
  • ventricular septum development Source: UniProtKB

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-2892247. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.

Names & Taxonomyi

Protein namesi
Recommended name:
Sal-like protein 1
Alternative name(s):
Spalt-like transcription factor 1
Zinc finger protein 794
Zinc finger protein SALL1
Zinc finger protein Spalt-1
Short name:
HSal1
Short name:
Sal-1
Gene namesi
Name:SALL1
Synonyms:SAL1, ZNF794
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103449.11.
HGNCiHGNC:10524. SALL1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Townes-Brocks syndrome 1 (TBS1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS1 and bronchio-oto-renal syndrome. Clinical features include dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, hypospadias, and mild developmental delay. Affected individuals lack the characteristic anal or hand malformations of TBS1.1 Publication
Disease descriptionA 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.
See also OMIM:107480

Keywords - Diseasei

Deafness

Organism-specific databases

DisGeNETi6299.
GeneReviewsiSALL1.
MalaCardsiSALL1.
MIMi107480. phenotype.
OpenTargetsiENSG00000103449.
Orphaneti857. Townes-Brocks syndrome.
PharmGKBiPA34932.

Polymorphism and mutation databases

BioMutaiSALL1.
DMDMi296452895.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000470201 – 1324Sal-like protein 1Add BLAST1324

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki439Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei590PhosphoserineBy similarity1
Modified residuei593PhosphoserineCombined sources1
Modified residuei595PhosphoserineCombined sources1
Cross-linki673Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki690Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki701Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei941PhosphoserineCombined sources1
Modified residuei943PhosphoserineCombined sources1
Cross-linki947Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki982Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1086Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1219Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1299Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1319Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9NSC2.
MaxQBiQ9NSC2.
PaxDbiQ9NSC2.
PeptideAtlasiQ9NSC2.
PRIDEiQ9NSC2.

PTM databases

iPTMnetiQ9NSC2.
PhosphoSitePlusiQ9NSC2.

Expressioni

Tissue specificityi

Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.

Developmental stagei

In fetal brain exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle.

Gene expression databases

BgeeiENSG00000103449.
CleanExiHS_SALL1.
ExpressionAtlasiQ9NSC2. baseline and differential.
GenevisibleiQ9NSC2. HS.

Organism-specific databases

HPAiHPA049829.

Interactioni

Subunit structurei

Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 (By similarity). Interacts with FAM58A. Probably associates with NuRD histone deacetylase complex (HDAC).By similarity1 Publication

GO - Molecular functioni

  • beta-catenin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi112206. 20 interactors.
ELMiQ9NSC2.
IntActiQ9NSC2. 9 interactors.
STRINGi9606.ENSP00000251020.

Structurei

3D structure databases

ProteinModelPortaliQ9NSC2.
SMRiQ9NSC2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi150 – 159Poly-Ser10
Compositional biasi160 – 163Poly-Gly4
Compositional biasi237 – 240Poly-Gln4
Compositional biasi294 – 297Poly-Ala4
Compositional biasi371 – 375Poly-Ser5
Compositional biasi1144 – 1147Poly-Ser4

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri449 – 471C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri477 – 499C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri706 – 728C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri734 – 756C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri766 – 788C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1001 – 1023C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1029 – 1051C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1134 – 1156C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1162 – 1184C2H2-type 9PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1074. Eukaryota.
ENOG410ZE3Z. LUCA.
GeneTreeiENSGT00550000074555.
HOGENOMiHOG000231986.
HOVERGENiHBG058921.
InParanoidiQ9NSC2.
KOiK19871.
OMAiCTKNQLV.
OrthoDBiEOG091G00R1.
PhylomeDBiQ9NSC2.
TreeFamiTF317003.

Family and domain databases

Gene3Di3.30.40.10. 2 hits.
InterProiView protein in InterPro
IPR036236. Znf_C2H2_sf.
IPR013087. Znf_C2H2_type.
IPR013083. Znf_RING/FYVE/PHD.
SMARTiView protein in SMART
SM00355. ZnF_C2H2. 9 hits.
SUPFAMiSSF57667. SSF57667. 5 hits.
PROSITEiView protein in PROSITE
PS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 9 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NSC2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSRRKQAKPQ HFQSDPEVAS LPRRDGDTEK GQPSRPTKSK DAHVCGRCCA
60 70 80 90 100
EFFELSDLLL HKKNCTKNQL VLIVNENPAS PPETFSPSPP PDNPDEQMND
110 120 130 140 150
TVNKTDQVDC SDLSEHNGLD REESMEVEAP VANKSGSGTS SGSHSSTAPS
160 170 180 190 200
SSSSSSSSSG GGGSSSTGTS AITTSLPQLG DLTTLGNFSV INSNVIIENL
210 220 230 240 250
QSTKVAVAQF SQEARCGGAS GGKLAVPALM EQLLALQQQQ IHQLQLIEQI
260 270 280 290 300
RHQILLLASQ NADLPTSSSP SQGTLRTSAN PLSTLSSHLS QQLAAAAGLA
310 320 330 340 350
QSLASQSASI SGVKQLPPIQ LPQSSSGNTI IPSNSGSSPN MNILAAAVTT
360 370 380 390 400
PSSEKVASSA GASHVSNPAV SSSSSPAFAI SSLLSPASNP LLPQQASANS
410 420 430 440 450
VFPSPLPNIG TTAEDLNSLS ALAQQRKSKP PNVTAFEAKS TSDEAFFKHK
460 470 480 490 500
CRFCAKVFGS DSALQIHLRS HTGERPFKCN ICGNRFSTKG NLKVHFQRHK
510 520 530 540 550
EKYPHIQMNP YPVPEHLDNI PTSTGIPYGM SIPPEKPVTS WLDTKPVLPT
560 570 580 590 600
LTTSVGLPLP PTLPSLIPFI KTEEPAPIPI SHSATSPPGS VKSDSGGPES
610 620 630 640 650
ATRNLGGLPE EAEGSTLPPS GGKSEESGMV TNSVPTASSS VLSSPAADCG
660 670 680 690 700
PAGSATTFTN PLLPLMSEQF KAKFPFGGLL DSAQASETSK LQQLVENIDK
710 720 730 740 750
KATDPNECII CHRVLSCQSA LKMHYRTHTG ERPFKCKICG RAFTTKGNLK
760 770 780 790 800
THYSVHRAMP PLRVQHSCPI CQKKFTNAVV LQQHIRMHMG GQIPNTPVPD
810 820 830 840 850
SYSESMESDT GSFDEKNFDD LDNFSDENME DCPEGSIPDT PKSADASQDS
860 870 880 890 900
LSSSPLPLEM SSIAALENQM KMINAGLAEQ LQASLKSVEN GSIEGDVLTN
910 920 930 940 950
DSSSVGGDME SQSAGSPAIS ESTSSMQALS PSNSTQEFHK SPSIEEKPQR
960 970 980 990 1000
AVPSEFANGL SPTPVNGGAL DLTSSHAEKI IKEDSLGILF PFRDRGKFKN
1010 1020 1030 1040 1050
TACDICGKTF ACQSALDIHY RSHTKERPFI CTVCNRGFST KGNLKQHMLT
1060 1070 1080 1090 1100
HQMRDLPSQL FEPSSNLGPN QNSAVIPANS LSSLIKTEVN GFVHVSPQDS
1110 1120 1130 1140 1150
KDTPTSHVPS GPLSSSATSP VLLPALPRRT PKQHYCNTCG KTFSSSSALQ
1160 1170 1180 1190 1200
IHERTHTGEK PFACTICGRA FTTKGNLKVH MGTHMWNSTP ARRGRRLSVD
1210 1220 1230 1240 1250
GPMTFLGGNP VKFPEMFQKD LAARSGSGDP SSFWNQYAAA LSNGLAMKAN
1260 1270 1280 1290 1300
EISVIQNGGI PPIPGSLGSG NSSPVSGLTG NLERLQNSEP NAPLAGLEKM
1310 1320
ASSENGTNFR FTRFVEDSKE IVTS
Length:1,324
Mass (Da):140,405
Last modified:May 18, 2010 - v2
Checksum:i41AFA91ADEBEEF8C
GO
Isoform 2 (identifier: Q9NSC2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.

Show »
Length:1,227
Mass (Da):129,571
Checksum:iF972D86743DED721
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti79A → G in CAB41400 (PubMed:9973281).Curated1
Sequence conflicti562T → S in CAB41400 (PubMed:9973281).Curated1
Sequence conflicti562T → S in CAB41399 (PubMed:9973281).Curated1
Sequence conflicti1275V → I in CAB41400 (PubMed:9973281).Curated1
Sequence conflicti1275V → I in CAB41399 (PubMed:9973281).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013156150S → SS1 Publication1
Natural variantiVAR_013155150Missing 1 Publication1
Natural variantiVAR_013157159S → G1 PublicationCorresponds to variant dbSNP:rs13336129Ensembl.1
Natural variantiVAR_013158164Missing 1 Publication1
Natural variantiVAR_0131591265G → E1 PublicationCorresponds to variant dbSNP:rs149302006Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0405021 – 97Missing in isoform 2. 1 PublicationAdd BLAST97

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y18265 mRNA. Translation: CAB41400.1.
Y18264, X98833 Genomic DNA. Translation: CAB41399.1.
AC009166 Genomic DNA. No translation available.
AK307835 mRNA. No translation available.
AF017655 Genomic DNA. Translation: AAB99908.1.
AF074949 Genomic DNA. Translation: AAF19263.1.
CCDSiCCDS10747.1. [Q9NSC2-1]
CCDS45483.1. [Q9NSC2-2]
RefSeqiNP_001121364.1. NM_001127892.1. [Q9NSC2-2]
NP_002959.2. NM_002968.2. [Q9NSC2-1]
XP_006721304.1. XM_006721241.3. [Q9NSC2-1]
XP_011521556.1. XM_011523254.2. [Q9NSC2-1]
UniGeneiHs.135787.

Genome annotation databases

EnsembliENST00000251020; ENSP00000251020; ENSG00000103449. [Q9NSC2-1]
ENST00000440970; ENSP00000407914; ENSG00000103449. [Q9NSC2-2]
GeneIDi6299.
KEGGihsa:6299.
UCSCiuc059ucr.1. human. [Q9NSC2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSALL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NSC2
Secondary accession number(s): Q99881, Q9NSC3, Q9P1R0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 18, 2010
Last modified: October 25, 2017
This is version 153 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families