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Protein

Sal-like protein 4

Gene

SALL4

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

Functioni

Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri382 – 404C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri410 – 432C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri566 – 588C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri594 – 616C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri626 – 648C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri870 – 892C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri898 – 920C2H2-type 7PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-2892247. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
R-HSA-452723. Transcriptional regulation of pluripotent stem cells.
R-HSA-8943724. Regulation of PTEN gene transcription.

Names & Taxonomyi

Protein namesi
Recommended name:
Sal-like protein 4
Alternative name(s):
Zinc finger protein 797
Zinc finger protein SALL4
Gene namesi
Name:SALL4
Synonyms:ZNF797
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101115.12.
HGNCiHGNC:15924. SALL4.

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

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Duane-radial ray syndrome (DRRS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDisorder characterized by the association of forearm malformations with Duane retraction syndrome.
See also OMIM:607323
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033054888H → R in DRRS. 1 PublicationCorresponds to variant dbSNP:rs74315429Ensembl.1
Oculootoradial syndrome (OORS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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 (DRRS) with a similar phenotype.
See also OMIM:147750

Keywords - Diseasei

Disease mutation, Oncogene

Organism-specific databases

DisGeNETi57167.
GeneReviewsiSALL4.
MalaCardsiSALL4.
MIMi147750. phenotype.
607323. phenotype.
OpenTargetsiENSG00000101115.
Orphaneti959. Acro-renal-ocular syndrome.
2307. IVIC syndrome.
261638. Okihiro syndrome due to 20q13 microdeletion.
261647. Okihiro syndrome due to a point mutation.
PharmGKBiPA34936.

Polymorphism and mutation databases

BioMutaiSALL4.
DMDMi24212387.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000470261 – 1053Sal-like protein 4Add BLAST1053

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei57Phosphoserine1 Publication1
Cross-linki156Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
Cross-linki156Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki175Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki190Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki290Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei307PhosphoserineCombined sources1
Cross-linki316Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
Cross-linki316Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki372Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki374Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
Cross-linki374Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki436Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei541PhosphothreonineCombined sources1
Cross-linki550Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki597Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki623Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei776PhosphoserineCombined sources1
Modified residuei789PhosphoserineCombined sources1
Cross-linki838Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
Cross-linki838Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei852Phosphoserine1 Publication1
Cross-linki896Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki932Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki947Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1019PhosphoserineCombined sources1

Post-translational modificationi

Isoform SALL4B exists primarily as a ubiquitinated form.1 Publication
Sumoylation with both SUMO1 and SUMO2 regulates the stability, subcellular localization, transcriptional activity, and may reduce interaction with POU5F1/OCT4.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9UJQ4.
PaxDbiQ9UJQ4.
PeptideAtlasiQ9UJQ4.
PRIDEiQ9UJQ4.

PTM databases

iPTMnetiQ9UJQ4.
PhosphoSitePlusiQ9UJQ4.

Expressioni

Tissue specificityi

Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML).1 Publication

Gene expression databases

BgeeiENSG00000101115.
CleanExiHS_SALL4.
ExpressionAtlasiQ9UJQ4. baseline and differential.
GenevisibleiQ9UJQ4. HS.

Organism-specific databases

HPAiHPA015291.
HPA015791.

Interactioni

Subunit structurei

Interacts with NANOG (By similarity). Interacts with POU5F1/OCT4. Interacts with BEND3.By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121420. 4 interactors.
IntActiQ9UJQ4. 2 interactors.
STRINGi9606.ENSP00000217086.

Structurei

3D structure databases

ProteinModelPortaliQ9UJQ4.
SMRiQ9UJQ4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri382 – 404C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri410 – 432C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri566 – 588C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri594 – 616C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri626 – 648C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri870 – 892C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri898 – 920C2H2-type 7PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1074. Eukaryota.
ENOG410ZE3Z. LUCA.
GeneTreeiENSGT00550000074555.
HOGENOMiHOG000230873.
HOVERGENiHBG058921.
InParanoidiQ9UJQ4.
KOiK19871.
OMAiGVHRTNT.
OrthoDBiEOG091G00R1.
PhylomeDBiQ9UJQ4.
TreeFamiTF317003.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiView protein in InterPro
IPR013087. Znf_C2H2_type.
IPR013083. Znf_RING/FYVE/PHD.
SMARTiView protein in SMART
SM00355. ZnF_C2H2. 8 hits.
SUPFAMiSSF57667. SSF57667. 4 hits.
PROSITEiView protein in PROSITE
PS00028. ZINC_FINGER_C2H2_1. 7 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform SALL4A (identifier: Q9UJQ4-1) [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 HINSEEDQGE QQPQQQTPEF ADAAPAAPAA GELGAPVNHP
60 70 80 90 100
GNDEVASEDE ATVKRLRREE THVCEKCCAE FFSISEFLEH KKNCTKNPPV
110 120 130 140 150
LIMNDSEGPV PSEDFSGAVL SHQPTSPGSK DCHRENGGSS EDMKEKPDAE
160 170 180 190 200
SVVYLKTETA LPPTPQDISY LAKGKVANTN VTLQALRGTK VAVNQRSADA
210 220 230 240 250
LPAPVPGANS IPWVLEQILC LQQQQLQQIQ LTEQIRIQVN MWASHALHSS
260 270 280 290 300
GAGADTLKTL GSHMSQQVSA AVALLSQKAG SQGLSLDALK QAKLPHANIP
310 320 330 340 350
SATSSLSPGL APFTLKPDGT RVLPNVMSRL PSALLPQAPG SVLFQSPFST
360 370 380 390 400
VALDTSKKGK GKPPNISAVD VKPKDEAALY KHKCKYCSKV FGTDSSLQIH
410 420 430 440 450
LRSHTGERPF VCSVCGHRFT TKGNLKVHFH RHPQVKANPQ LFAEFQDKVA
460 470 480 490 500
AGNGIPYALS VPDPIDEPSL SLDSKPVLVT TSVGLPQNLS SGTNPKDLTG
510 520 530 540 550
GSLPGDLQPG PSPESEGGPT LPGVGPNYNS PRAGGFQGSG TPEPGSETLK
560 570 580 590 600
LQQLVENIDK ATTDPNECLI CHRVLSCQSS LKMHYRTHTG ERPFQCKICG
610 620 630 640 650
RAFSTKGNLK THLGVHRTNT SIKTQHSCPI CQKKFTNAVM LQQHIRMHMG
660 670 680 690 700
GQIPNTPLPE NPCDFTGSEP MTVGENGSTG AICHDDVIES IDVEEVSSQE
710 720 730 740 750
APSSSSKVPT PLPSIHSASP TLGFAMMASL DAPGKVGPAP FNLQRQGSRE
760 770 780 790 800
NGSVESDGLT NDSSSLMGDQ EYQSRSPDIL ETTSFQALSP ANSQAESIKS
810 820 830 840 850
KSPDAGSKAE SSENSRTEME GRSSLPSTFI RAPPTYVKVE VPGTFVGPST
860 870 880 890 900
LSPGMTPLLA AQPRRQAKQH GCTRCGKNFS SASALQIHER THTGEKPFVC
910 920 930 940 950
NICGRAFTTK GNLKVHYMTH GANNNSARRG RKLAIENTMA LLGTDGKRVS
960 970 980 990 1000
EIFPKEILAP SVNVDPVVWN QYTSMLNGGL AVKTNEISVI QSGGVPTLPV
1010 1020 1030 1040 1050
SLGATSVVNN ATVSKMDGSQ SGISADVEKP SATDGVPKHQ FPHFLEENKI

AVS
Length:1,053
Mass (Da):112,231
Last modified:May 1, 2000 - v1
Checksum:i61D0D1F21CB2B337
GO
Isoform SALL4B (identifier: Q9UJQ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     385-821: Missing.

Show »
Length:616
Mass (Da):65,708
Checksum:i29A9D34BAFD73C9D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti130K → E in AAO16566 (PubMed:16763212).Curated1
Sequence conflicti143M → I in AAO16566 (PubMed:16763212).Curated1
Sequence conflicti865R → G in AAO16566 (PubMed:16763212).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016042507L → R1 PublicationCorresponds to variant dbSNP:rs6126344Ensembl.1
Natural variantiVAR_016043798I → L1 PublicationCorresponds to variant dbSNP:rs6091375Ensembl.1
Natural variantiVAR_033054888H → R in DRRS. 1 PublicationCorresponds to variant dbSNP:rs74315429Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_046525385 – 821Missing in isoform SALL4B. 1 PublicationAdd BLAST437

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY172738 mRNA. Translation: AAO44950.1.
AY170621 mRNA. Translation: AAO16566.1.
AL034420 Genomic DNA. No translation available.
CH471077 Genomic DNA. Translation: EAW75595.1.
BC111714 mRNA. Translation: AAI11715.1.
CCDSiCCDS13438.1. [Q9UJQ4-1]
CCDS82629.1. [Q9UJQ4-2]
RefSeqiNP_001304960.1. NM_001318031.1. [Q9UJQ4-2]
NP_065169.1. NM_020436.4. [Q9UJQ4-1]
UniGeneiHs.517113.

Genome annotation databases

EnsembliENST00000217086; ENSP00000217086; ENSG00000101115. [Q9UJQ4-1]
ENST00000395997; ENSP00000379319; ENSG00000101115. [Q9UJQ4-2]
GeneIDi57167.
KEGGihsa:57167.
UCSCiuc002xwh.5. human. [Q9UJQ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSALL4_HUMAN
AccessioniPrimary (citable) accession number: Q9UJQ4
Secondary accession number(s): A2A2D8, Q540H3, Q6Y8G6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: May 1, 2000
Last modified: September 27, 2017
This is version 155 of the entry and version 1 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 20
    Human chromosome 20: 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