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Q9UJQ4 (SALL4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sal-like protein 4
Alternative name(s):
Zinc finger protein 797
Zinc finger protein SALL4
Gene names
Name:SALL4
Synonyms:ZNF797
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1053 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells. Ref.8

Subunit structure

Interacts with NANOG By similarity. Interacts with POU5F1/OCT4. Ref.8

Subcellular location

Cytoplasm. Nucleus.

Tissue specificity

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

Post-translational modification

Isoform SALL4B exists primarily as a ubiquitinated form.

Sumoylation with both SUMO1 and SUMO2 regulates the stability, subcellular localization, transcriptional activity, and may reduce interaction with POU5F1/OCT4. Ref.8

Involvement in disease

Duane-radial ray syndrome (DRRS) [MIM:607323]: Disorder characterized by the association of forearm malformations with Duane retraction syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.9 Ref.10

Oculootoradial syndrome (OORS) [MIM:147750]: 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 (DRRS) with a similar phenotype.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Sequence similarities

Belongs to the sal C2H2-type zinc-finger protein family.

Contains 7 C2H2-type zinc fingers.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Oncogene
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   PTMIsopeptide bond
Phosphoprotein
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processembryonic limb morphogenesis

Inferred from electronic annotation. Source: Ensembl

inner cell mass cell proliferation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

neural tube closure

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

stem cell maintenance

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

ventricular septum development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

heterochromatin

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

protein complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform SALL4A (identifier: Q9UJQ4-1)

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.
Isoform SALL4B (identifier: Q9UJQ4-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10531053Sal-like protein 4
PRO_0000047026

Regions

Zinc finger382 – 40423C2H2-type 1
Zinc finger410 – 43223C2H2-type 2
Zinc finger566 – 58823C2H2-type 3
Zinc finger594 – 61623C2H2-type 4
Zinc finger626 – 64823C2H2-type 5
Zinc finger870 – 89223C2H2-type 6
Zinc finger898 – 92023C2H2-type 7

Amino acid modifications

Modified residue571Phosphoserine Ref.8
Modified residue3071Phosphoserine Ref.7
Modified residue5411Phosphothreonine Ref.7
Modified residue7481Phosphoserine Ref.7
Modified residue7761Phosphoserine Ref.7
Modified residue7891Phosphoserine Ref.7
Modified residue8521Phosphoserine Ref.8
Modified residue10191Phosphoserine Ref.7
Cross-link156Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1) Ref.8
Cross-link316Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1) Ref.8
Cross-link374Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1) Ref.8
Cross-link838Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1) Ref.8

Natural variations

Alternative sequence385 – 821437Missing in isoform SALL4B.
VSP_046525
Natural variant5071L → R. Ref.9
Corresponds to variant rs6126344 [ dbSNP | Ensembl ].
VAR_016042
Natural variant7981I → L. Ref.9
Corresponds to variant rs6091375 [ dbSNP | Ensembl ].
VAR_016043
Natural variant8881H → R in DRRS. Ref.10
VAR_033054

Experimental info

Sequence conflict1301K → E in AAO16566. Ref.1
Sequence conflict1431M → I in AAO16566. Ref.1
Sequence conflict8651R → G in AAO16566. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform SALL4A [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 61D0D1F21CB2B337

FASTA1,053112,231
        10         20         30         40         50         60 
MSRRKQAKPQ HINSEEDQGE QQPQQQTPEF ADAAPAAPAA GELGAPVNHP GNDEVASEDE 

        70         80         90        100        110        120 
ATVKRLRREE THVCEKCCAE FFSISEFLEH KKNCTKNPPV LIMNDSEGPV PSEDFSGAVL 

       130        140        150        160        170        180 
SHQPTSPGSK DCHRENGGSS EDMKEKPDAE SVVYLKTETA LPPTPQDISY LAKGKVANTN 

       190        200        210        220        230        240 
VTLQALRGTK VAVNQRSADA LPAPVPGANS IPWVLEQILC LQQQQLQQIQ LTEQIRIQVN 

       250        260        270        280        290        300 
MWASHALHSS GAGADTLKTL GSHMSQQVSA AVALLSQKAG SQGLSLDALK QAKLPHANIP 

       310        320        330        340        350        360 
SATSSLSPGL APFTLKPDGT RVLPNVMSRL PSALLPQAPG SVLFQSPFST VALDTSKKGK 

       370        380        390        400        410        420 
GKPPNISAVD VKPKDEAALY KHKCKYCSKV FGTDSSLQIH LRSHTGERPF VCSVCGHRFT 

       430        440        450        460        470        480 
TKGNLKVHFH RHPQVKANPQ LFAEFQDKVA AGNGIPYALS VPDPIDEPSL SLDSKPVLVT 

       490        500        510        520        530        540 
TSVGLPQNLS SGTNPKDLTG GSLPGDLQPG PSPESEGGPT LPGVGPNYNS PRAGGFQGSG 

       550        560        570        580        590        600 
TPEPGSETLK LQQLVENIDK ATTDPNECLI CHRVLSCQSS LKMHYRTHTG ERPFQCKICG 

       610        620        630        640        650        660 
RAFSTKGNLK THLGVHRTNT SIKTQHSCPI CQKKFTNAVM LQQHIRMHMG GQIPNTPLPE 

       670        680        690        700        710        720 
NPCDFTGSEP MTVGENGSTG AICHDDVIES IDVEEVSSQE APSSSSKVPT PLPSIHSASP 

       730        740        750        760        770        780 
TLGFAMMASL DAPGKVGPAP FNLQRQGSRE NGSVESDGLT NDSSSLMGDQ EYQSRSPDIL 

       790        800        810        820        830        840 
ETTSFQALSP ANSQAESIKS KSPDAGSKAE SSENSRTEME GRSSLPSTFI RAPPTYVKVE 

       850        860        870        880        890        900 
VPGTFVGPST LSPGMTPLLA AQPRRQAKQH GCTRCGKNFS SASALQIHER THTGEKPFVC 

       910        920        930        940        950        960 
NICGRAFTTK GNLKVHYMTH GANNNSARRG RKLAIENTMA LLGTDGKRVS EIFPKEILAP 

       970        980        990       1000       1010       1020 
SVNVDPVVWN QYTSMLNGGL AVKTNEISVI QSGGVPTLPV SLGATSVVNN ATVSKMDGSQ 

      1030       1040       1050 
SGISADVEKP SATDGVPKHQ FPHFLEENKI AVS 

« Hide

Isoform SALL4B [UniParc].

Checksum: 29A9D34BAFD73C9D
Show »

FASTA61665,708

References

« Hide 'large scale' references
[1]"SALL4, a novel oncogene, is constitutively expressed in human acute myeloid leukemia (AML) and induces AML in transgenic mice."
Ma Y., Cui W., Yang J., Qu J., Di C., Amin H.M., Lai R., Ritz J., Krause D.S., Chai L.
Blood 108:2726-2735(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS SALL4A AND SALL4B), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
[2]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SALL4A).
[5]"Okihiro syndrome is caused by SALL4 mutations."
Kohlhase J., Heinrich M., Schubert L., Liebers M., Kispert A., Laccone F., Turnpenny P., Winter R.M., Reardon W.
Hum. Mol. Genet. 11:2979-2987(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN DRRS.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-307; THR-541; SER-748; SER-776; SER-789 AND SER-1019, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Sumoylation is important for stability, subcellular localization, and transcriptional activity of SALL4, an essential stem cell transcription factor."
Yang F., Yao Y., Jiang Y., Lu L., Ma Y., Dai W.
J. Biol. Chem. 287:38600-38608(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, UBIQUITINATION, SUMOYLATION AT LYS-156; LYS-316; LYS-374 AND LYS-838, PHOSPHORYLATION AT SER-57 AND SER-852, INTERACTION WITH POU5F1.
[9]"Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family."
Al-Baradie R., Yamada K., St Hilaire C., Chan W.-M., Andrews C., McIntosh N., Nakano M., Martonyi E.J., Raymond W.R., Okumura S., Okihiro M.M., Engle E.C.
Am. J. Hum. Genet. 71:1195-1199(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARG-507 AND LEU-798, INVOLVEMENT IN DRRS.
[10]"A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome."
Miertus J., Borozdin W., Frecer V., Tonini G., Bertok S., Amoroso A., Miertus S., Kohlhase J.
Hum. Genet. 119:154-161(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DRRS ARG-888.
[11]"IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus."
Paradisi I., Arias S.
Am. J. Med. Genet. A 143:326-332(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN OORS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY172738 mRNA. Translation: AAO44950.1.
AY170621 mRNA. Translation: AAO16566.1.
AL034420 Genomic DNA. Translation: CAB61485.1.
CH471077 Genomic DNA. Translation: EAW75595.1.
BC111714 mRNA. Translation: AAI11715.1.
CCDSCCDS13438.1. [Q9UJQ4-1]
RefSeqNP_065169.1. NM_020436.3. [Q9UJQ4-1]
UniGeneHs.517113.

3D structure databases

ProteinModelPortalQ9UJQ4.
SMRQ9UJQ4. Positions 381-461, 542-721, 866-934.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121420. 6 interactions.
STRING9606.ENSP00000217086.

PTM databases

PhosphoSiteQ9UJQ4.

Polymorphism databases

DMDM24212387.

Proteomic databases

PaxDbQ9UJQ4.
PRIDEQ9UJQ4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000217086; ENSP00000217086; ENSG00000101115. [Q9UJQ4-1]
ENST00000395997; ENSP00000379319; ENSG00000101115. [Q9UJQ4-2]
GeneID57167.
KEGGhsa:57167.
UCSCuc002xwh.4. human. [Q9UJQ4-1]
uc010gii.3. human.

Organism-specific databases

CTD57167.
GeneCardsGC20M050400.
GeneReviewsSALL4.
HGNCHGNC:15924. SALL4.
HPAHPA015291.
HPA015791.
MIM147750. phenotype.
607323. phenotype.
607343. gene.
neXtProtNX_Q9UJQ4.
Orphanet959. Acro-renal-ocular syndrome.
2307. IVIC syndrome.
261638. Okihiro syndrome due to 20q13 microdeletion.
261647. Okihiro syndrome due to a point mutation.
PharmGKBPA34936.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000231986.
HOVERGENHBG058921.
InParanoidQ9UJQ4.
OMAPHANIPS.
OrthoDBEOG7NCV2P.
PhylomeDBQ9UJQ4.
TreeFamTF317003.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressQ9UJQ4.
BgeeQ9UJQ4.
CleanExHS_SALL4.
GenevestigatorQ9UJQ4.

Family and domain databases

Gene3D3.30.160.60. 7 hits.
InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 8 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 7 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSALL4.
GenomeRNAi57167.
NextBio35460696.
PROQ9UJQ4.
SOURCESearch...

Entry information

Entry nameSALL4_HUMAN
AccessionPrimary (citable) accession number: Q9UJQ4
Secondary accession number(s): A2A2D8, Q540H3, Q6Y8G6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM