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Q9UJQ4

- SALL4_HUMAN

UniProt

Q9UJQ4 - SALL4_HUMAN

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Protein
Sal-like protein 4
Gene
SALL4, ZNF797
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri382 – 40423C2H2-type 1
Add
BLAST
Zinc fingeri410 – 43223C2H2-type 2
Add
BLAST
Zinc fingeri566 – 58823C2H2-type 3
Add
BLAST
Zinc fingeri594 – 61623C2H2-type 4
Add
BLAST
Zinc fingeri626 – 64823C2H2-type 5
Add
BLAST
Zinc fingeri870 – 89223C2H2-type 6
Add
BLAST
Zinc fingeri898 – 92023C2H2-type 7
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. embryonic limb morphogenesis Source: Ensembl
  2. inner cell mass cell proliferation Source: Ensembl
  3. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  4. neural tube closure Source: Ensembl
  5. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  6. stem cell maintenance Source: Ensembl
  7. transcription, DNA-templated Source: UniProtKB-KW
  8. ventricular septum development Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_200812. Transcriptional regulation of pluripotent stem cells.

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
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:15924. SALL4.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. heterochromatin Source: Ensembl
  3. nucleus Source: UniProtKB-SubCell
  4. protein complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti888 – 8881H → R in DRRS. 1 Publication
VAR_033054
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.1 Publication

Keywords - Diseasei

Disease mutation, Oncogene

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10531053Sal-like protein 4
PRO_0000047026Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei57 – 571Phosphoserine1 Publication
Cross-linki156 – 156Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1)1 Publication
Modified residuei307 – 3071Phosphoserine1 Publication
Cross-linki316 – 316Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1)1 Publication
Cross-linki374 – 374Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1)1 Publication
Modified residuei541 – 5411Phosphothreonine1 Publication
Modified residuei748 – 7481Phosphoserine1 Publication
Modified residuei776 – 7761Phosphoserine1 Publication
Modified residuei789 – 7891Phosphoserine1 Publication
Cross-linki838 – 838Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1)1 Publication
Modified residuei852 – 8521Phosphoserine1 Publication
Modified residuei1019 – 10191Phosphoserine1 Publication

Post-translational modificationi

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/OCT4.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ9UJQ4.
PRIDEiQ9UJQ4.

PTM databases

PhosphoSiteiQ9UJQ4.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ9UJQ4.
BgeeiQ9UJQ4.
CleanExiHS_SALL4.
GenevestigatoriQ9UJQ4.

Organism-specific databases

HPAiHPA015291.
HPA015791.

Interactioni

Subunit structurei

Interacts with NANOG By similarity. Interacts with POU5F1/OCT4.1 Publication

Protein-protein interaction databases

BioGridi121420. 6 interactions.
STRINGi9606.ENSP00000217086.

Structurei

3D structure databases

ProteinModelPortaliQ9UJQ4.
SMRiQ9UJQ4. Positions 381-461, 542-721, 866-934.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
HOGENOMiHOG000231986.
HOVERGENiHBG058921.
InParanoidiQ9UJQ4.
OMAiPHANIPS.
OrthoDBiEOG7NCV2P.
PhylomeDBiQ9UJQ4.
TreeFamiTF317003.

Family and domain databases

Gene3Di3.30.160.60. 7 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 8 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 7 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MSRRKQAKPQ HINSEEDQGE QQPQQQTPEF ADAAPAAPAA GELGAPVNHP     50
GNDEVASEDE ATVKRLRREE THVCEKCCAE FFSISEFLEH KKNCTKNPPV 100
LIMNDSEGPV PSEDFSGAVL SHQPTSPGSK DCHRENGGSS EDMKEKPDAE 150
SVVYLKTETA LPPTPQDISY LAKGKVANTN VTLQALRGTK VAVNQRSADA 200
LPAPVPGANS IPWVLEQILC LQQQQLQQIQ LTEQIRIQVN MWASHALHSS 250
GAGADTLKTL GSHMSQQVSA AVALLSQKAG SQGLSLDALK QAKLPHANIP 300
SATSSLSPGL APFTLKPDGT RVLPNVMSRL PSALLPQAPG SVLFQSPFST 350
VALDTSKKGK GKPPNISAVD VKPKDEAALY KHKCKYCSKV FGTDSSLQIH 400
LRSHTGERPF VCSVCGHRFT TKGNLKVHFH RHPQVKANPQ LFAEFQDKVA 450
AGNGIPYALS VPDPIDEPSL SLDSKPVLVT TSVGLPQNLS SGTNPKDLTG 500
GSLPGDLQPG PSPESEGGPT LPGVGPNYNS PRAGGFQGSG TPEPGSETLK 550
LQQLVENIDK ATTDPNECLI CHRVLSCQSS LKMHYRTHTG ERPFQCKICG 600
RAFSTKGNLK THLGVHRTNT SIKTQHSCPI CQKKFTNAVM LQQHIRMHMG 650
GQIPNTPLPE NPCDFTGSEP MTVGENGSTG AICHDDVIES IDVEEVSSQE 700
APSSSSKVPT PLPSIHSASP TLGFAMMASL DAPGKVGPAP FNLQRQGSRE 750
NGSVESDGLT NDSSSLMGDQ EYQSRSPDIL ETTSFQALSP ANSQAESIKS 800
KSPDAGSKAE SSENSRTEME GRSSLPSTFI RAPPTYVKVE VPGTFVGPST 850
LSPGMTPLLA AQPRRQAKQH GCTRCGKNFS SASALQIHER THTGEKPFVC 900
NICGRAFTTK GNLKVHYMTH GANNNSARRG RKLAIENTMA LLGTDGKRVS 950
EIFPKEILAP SVNVDPVVWN QYTSMLNGGL AVKTNEISVI QSGGVPTLPV 1000
SLGATSVVNN ATVSKMDGSQ SGISADVEKP SATDGVPKHQ FPHFLEENKI 1050
AVS 1053
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti507 – 5071L → R.1 Publication
Corresponds to variant rs6126344 [ dbSNP | Ensembl ].
VAR_016042
Natural varianti798 – 7981I → L.1 Publication
Corresponds to variant rs6091375 [ dbSNP | Ensembl ].
VAR_016043
Natural varianti888 – 8881H → R in DRRS. 1 Publication
VAR_033054

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei385 – 821437Missing in isoform SALL4B.
VSP_046525Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti130 – 1301K → E in AAO16566. 1 Publication
Sequence conflicti143 – 1431M → I in AAO16566. 1 Publication
Sequence conflicti865 – 8651R → G in AAO16566. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS13438.1. [Q9UJQ4-1]
RefSeqiNP_065169.1. NM_020436.3. [Q9UJQ4-1]
UniGeneiHs.517113.

Genome annotation databases

EnsembliENST00000217086; ENSP00000217086; ENSG00000101115. [Q9UJQ4-1]
ENST00000395997; ENSP00000379319; ENSG00000101115. [Q9UJQ4-2]
GeneIDi57167.
KEGGihsa:57167.
UCSCiuc002xwh.4. human. [Q9UJQ4-1]
uc010gii.3. human.

Polymorphism databases

DMDMi24212387.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS13438.1. [Q9UJQ4-1 ]
RefSeqi NP_065169.1. NM_020436.3. [Q9UJQ4-1 ]
UniGenei Hs.517113.

3D structure databases

ProteinModelPortali Q9UJQ4.
SMRi Q9UJQ4. Positions 381-461, 542-721, 866-934.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121420. 6 interactions.
STRINGi 9606.ENSP00000217086.

PTM databases

PhosphoSitei Q9UJQ4.

Polymorphism databases

DMDMi 24212387.

Proteomic databases

PaxDbi Q9UJQ4.
PRIDEi Q9UJQ4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000217086 ; ENSP00000217086 ; ENSG00000101115 . [Q9UJQ4-1 ]
ENST00000395997 ; ENSP00000379319 ; ENSG00000101115 . [Q9UJQ4-2 ]
GeneIDi 57167.
KEGGi hsa:57167.
UCSCi uc002xwh.4. human. [Q9UJQ4-1 ]
uc010gii.3. human.

Organism-specific databases

CTDi 57167.
GeneCardsi GC20M050400.
GeneReviewsi SALL4.
HGNCi HGNC:15924. SALL4.
HPAi HPA015291.
HPA015791.
MIMi 147750. phenotype.
607323. phenotype.
607343. gene.
neXtProti NX_Q9UJQ4.
Orphaneti 959. Acro-renal-ocular syndrome.
2307. IVIC syndrome.
261638. Okihiro syndrome due to 20q13 microdeletion.
261647. Okihiro syndrome due to a point mutation.
PharmGKBi PA34936.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
HOGENOMi HOG000231986.
HOVERGENi HBG058921.
InParanoidi Q9UJQ4.
OMAi PHANIPS.
OrthoDBi EOG7NCV2P.
PhylomeDBi Q9UJQ4.
TreeFami TF317003.

Enzyme and pathway databases

Reactomei REACT_200812. Transcriptional regulation of pluripotent stem cells.

Miscellaneous databases

GeneWikii SALL4.
GenomeRNAii 57167.
NextBioi 35460696.
PROi Q9UJQ4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UJQ4.
Bgeei Q9UJQ4.
CleanExi HS_SALL4.
Genevestigatori Q9UJQ4.

Family and domain databases

Gene3Di 3.30.160.60. 7 hits.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF00096. zf-C2H2. 1 hit.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 8 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 7 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: INVOLVEMENT IN DRRS.
  6. 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.

Entry informationi

Entry nameiSALL4_HUMAN
AccessioniPrimary (citable) accession number: Q9UJQ4
Secondary accession number(s): A2A2D8, Q540H3, Q6Y8G6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: May 1, 2000
Last modified: September 3, 2014
This is version 125 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

Similar proteinsi