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Q9UJQ4

- SALL4_HUMAN

UniProt

Q9UJQ4 - SALL4_HUMAN

Protein

Sal-like protein 4

Gene

SALL4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    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 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri410 – 43223C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri566 – 58823C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri594 – 61623C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri626 – 64823C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri870 – 89223C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri898 – 92023C2H2-type 7PROSITE-ProRule annotationAdd
    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

    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

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 4PRO_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)
    Modified residuei307 – 3071Phosphoserine1 Publication
    Cross-linki316 – 316Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1)
    Cross-linki374 – 374Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1)
    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)
    Modified residuei852 – 8521Phosphoserine1 Publication
    Modified residuei1019 – 10191Phosphoserine1 Publication

    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

    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.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi121420. 6 interactions.
    STRINGi9606.ENSP00000217086.

    Structurei

    3D structure databases

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

    Family & Domainsi

    Sequence similaritiesi

    Contains 7 C2H2-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri382 – 40423C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri410 – 43223C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri566 – 58823C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri594 – 61623C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri626 – 64823C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri870 – 89223C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri898 – 92023C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti130 – 1301K → E in AAO16566. (PubMed:16763212)Curated
    Sequence conflicti143 – 1431M → I in AAO16566. (PubMed:16763212)Curated
    Sequence conflicti865 – 8651R → G in AAO16566. (PubMed:16763212)Curated

    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. 1 PublicationVSP_046525Add
    BLAST

    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

    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: October 1, 2014
    This is version 126 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