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Q9BXA9

- SALL3_HUMAN

UniProt

Q9BXA9 - SALL3_HUMAN

Protein

Sal-like protein 3

Gene

SALL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Probable transcription factor.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri420 – 44223C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri448 – 47023C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri679 – 70123C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri707 – 72923C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri739 – 76123C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri977 – 99923C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1005 – 102723C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1113 – 113523C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1141 – 116323C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. forelimb morphogenesis Source: Ensembl
    2. hindlimb morphogenesis Source: Ensembl
    3. negative regulation of smoothened signaling pathway Source: Ensembl
    4. olfactory bulb interneuron development Source: Ensembl
    5. regulation of transcription, DNA-templated Source: UniProtKB-KW
    6. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sal-like protein 3
    Alternative name(s):
    Zinc finger protein 796
    Zinc finger protein SALL3
    Short name:
    hSALL3
    Gene namesi
    Name:SALL3
    Synonyms:ZNF796
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:10527. SALL3.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA34935.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13001300Sal-like protein 3PRO_0000047024Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei109 – 1091Phosphoserine1 Publication
    Modified residuei919 – 9191Phosphoserine1 Publication
    Modified residuei1177 – 11771Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9BXA9.
    PaxDbiQ9BXA9.
    PRIDEiQ9BXA9.

    PTM databases

    PhosphoSiteiQ9BXA9.

    Expressioni

    Tissue specificityi

    Widely expressed in adult with highest levels in heart. Expressed in fetal brain (in neurons of hippocampus, cortex, mediodorsal and ventrolateral thalamic nuclei, putamen, cerebellum and brainstem).

    Developmental stagei

    In fetal brain of the 24th gestational week.

    Gene expression databases

    BgeeiQ9BXA9.
    CleanExiHS_SALL3.
    GenevestigatoriQ9BXA9.

    Organism-specific databases

    HPAiHPA016656.

    Interactioni

    Protein-protein interaction databases

    BioGridi118043. 4 interactions.
    STRINGi9606.ENSP00000299466.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BXA9.
    SMRiQ9BXA9. Positions 421-475, 658-789, 976-1166.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi198 – 2014Poly-Ala
    Compositional biasi213 – 2164Poly-Gln
    Compositional biasi897 – 9026Poly-Ser

    Sequence similaritiesi

    Contains 9 C2H2-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri420 – 44223C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri448 – 47023C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri679 – 70123C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri707 – 72923C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri739 – 76123C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri977 – 99923C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1005 – 102723C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1113 – 113523C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1141 – 116323C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG293478.
    HOGENOMiHOG000231986.
    HOVERGENiHBG058921.
    InParanoidiQ9BXA9.
    OMAiMEVNGHS.
    OrthoDBiEOG7NCV2P.
    PhylomeDBiQ9BXA9.
    TreeFamiTF317003.

    Family and domain databases

    Gene3Di3.30.160.60. 9 hits.
    InterProiIPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view]
    SMARTiSM00355. ZnF_C2H2. 10 hits.
    [Graphical view]
    PROSITEiPS00028. ZINC_FINGER_C2H2_1. 9 hits.
    PS50157. ZINC_FINGER_C2H2_2. 8 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 3 (identifier: Q9BXA9-1) [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 HLKSDEELLP PDGAPEHAAP GEGAEDADSG PESRSGGEET     50
    SVCEKCCAEF FKWADFLEHQ RSCTKLPPVL IVHEDAPAPP PEDFPEPSPA 100
    SSPSERAESE AAEEAGAEGA EGEARPVEKE AEPMDAEPAG DTRAPRPPPA 150
    APAPPTPAYG APSTNVTLEA LLSTKVAVAQ FSQGARAAGG SGAGGGVAAA 200
    AVPLILEQLM ALQQQQIHQL QLIEQIRSQV ALMQRPPPRP SLSPAAAPSA 250
    PGPAPSQLPG LAALPLSAGA PAAAIAGSGP AAPAAFEGAQ PLSRPESGAS 300
    TPGGPAEPSA PAAPSAAPAP AAPAPAPAPQ SAASSQPQSA STPPALAPGS 350
    LLGAAPGLPS PLLPQTSASG VIFPNPLVSI AATANALDPL SALMKHRKGK 400
    PPNVSVFEPK ASAEDPFFKH KCRFCAKVFG SDSALQIHLR SHTGERPFKC 450
    NICGNRFSTK GNLKVHFQRH KEKYPHIQMN PYPVPEYLDN VPTCSGIPYG 500
    MSLPPEKPVT TWLDSKPVLP TVPTSVGLQL PPTVPGAHGY ADSPSATPAS 550
    RSPQRPSPAS SECASLSPGL NHVESGVSAT AESPQSLLGG PPLTKAEPVS 600
    LPCTNARAGD APVGAQASAA PTSVDGAPTS LGSPGLPAVS EQFKAQFPFG 650
    GLLDSMQTSE TSKLQQLVEN IDKKMTDPNQ CVICHRVLSC QSALKMHYRT 700
    HTGERPFKCK ICGRAFTTKG NLKTHFGVHR AKPPLRVQHS CPICQKKFTN 750
    AVVLQQHIRM HMGGQIPNTP LPEGFQDAMD SELAYDDKNA ETLSSYDDDM 800
    DENSMEDDAE LKDAATDPAK PLLSYAGSCP PSPPSVISSI AALENQMKMI 850
    DSVMSCQQLT GLKSVENGSG ESDRLSNDSS SAVGDLESRS AGSPALSESS 900
    SSQALSPAPS NGESFRSKSP GLGAPEEPQE IPLKTERPDS PAAAPGSGGA 950
    PGRAGIKEEA PFSLLFLSRE RGKCPSTVCG VCGKPFACKS ALEIHYRSHT 1000
    KERPFVCALC RRGCSTMGNL KQHLLTHRLK ELPSQLFDPN FALGPSQSTP 1050
    SLISSAAPTM IKMEVNGHGK AMALGEGPPL PAGVQVPAGP QTVMGPGLAP 1100
    MLAPPPRRTP KQHNCQSCGK TFSSASALQI HERTHTGEKP FGCTICGRAF 1150
    TTKGNLKVHM GTHMWNNAPA RRGRRLSVEN PMALLGGDAL KFSEMFQKDL 1200
    AARAMNVDPS FWNQYAAAIT NGLAMKNNEI SVIQNGGIPQ LPVSLGGSAL 1250
    PPLGSMASGM DKARTGSSPP IVSLDKASSE TAASRPFTRF IEDNKEIGIN 1300
    Length:1,300
    Mass (Da):135,346
    Last modified:May 18, 2010 - v2
    Checksum:i9D0347FE2C9A6967
    GO
    Isoform 1 (identifier: Q9BXA9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         973-1044: Missing.

    Note: Lacks two zinc finger domains. Major isoform with isoform 2.

    Show »
    Length:1,228
    Mass (Da):127,332
    Checksum:i0ED24F438F720F28
    GO
    Isoform 2 (identifier: Q9BXA9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-133: Missing.
         973-1044: Missing.

    Note: Lacks two zinc finger domains. Major isoform with isoform 1.

    Show »
    Length:1,095
    Mass (Da):113,164
    Checksum:i226DEA7691D918FE
    GO
    Isoform 4 (identifier: Q9BXA9-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-133: Missing.

    Show »
    Length:1,167
    Mass (Da):121,179
    Checksum:i583C3C859AFDC4AB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti91 – 911P → H in AAK18311. 1 PublicationCurated
    Sequence conflicti91 – 911P → H in CAB65124. (PubMed:10610715)Curated
    Sequence conflicti235 – 2351R → C in CAB65124. (PubMed:10610715)Curated
    Sequence conflicti787 – 7871D → N in CAB65124. (PubMed:10610715)Curated
    Sequence conflicti797 – 8026DDDMDE → NDNLDK in CAB65124. (PubMed:10610715)Curated
    Sequence conflicti808 – 8081D → N in CAB65124. (PubMed:10610715)Curated
    Sequence conflicti1138 – 11381E → K in CAB65124. (PubMed:10610715)Curated
    Sequence conflicti1141 – 11411F → S in CAB65124. (PubMed:10610715)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti143 – 1431R → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035552
    Natural varianti533 – 5331T → A.
    Corresponds to variant rs7240860 [ dbSNP | Ensembl ].
    VAR_059887
    Natural varianti593 – 5931L → V.1 Publication
    Corresponds to variant rs2447437 [ dbSNP | Ensembl ].
    VAR_014132

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 133133Missing in isoform 2 and isoform 4. CuratedVSP_006832Add
    BLAST
    Alternative sequencei973 – 104472Missing in isoform 1 and isoform 2. CuratedVSP_006833Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF347021 Genomic DNA. Translation: AAK18311.1.
    AJ007421 Genomic DNA. Translation: CAB65124.1.
    AC099689 Genomic DNA. No translation available.
    CCDSiCCDS12013.1. [Q9BXA9-1]
    RefSeqiNP_741996.2. NM_171999.3. [Q9BXA9-1]
    UniGeneiHs.700557.

    Genome annotation databases

    EnsembliENST00000536229; ENSP00000439975; ENSG00000256463. [Q9BXA9-3]
    ENST00000537592; ENSP00000441823; ENSG00000256463. [Q9BXA9-1]
    ENST00000575389; ENSP00000458360; ENSG00000256463. [Q9BXA9-2]
    GeneIDi27164.
    KEGGihsa:27164.
    UCSCiuc002lmt.3. human. [Q9BXA9-1]
    uc010dra.3. human. [Q9BXA9-3]

    Polymorphism databases

    DMDMi296452896.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF347021 Genomic DNA. Translation: AAK18311.1 .
    AJ007421 Genomic DNA. Translation: CAB65124.1 .
    AC099689 Genomic DNA. No translation available.
    CCDSi CCDS12013.1. [Q9BXA9-1 ]
    RefSeqi NP_741996.2. NM_171999.3. [Q9BXA9-1 ]
    UniGenei Hs.700557.

    3D structure databases

    ProteinModelPortali Q9BXA9.
    SMRi Q9BXA9. Positions 421-475, 658-789, 976-1166.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118043. 4 interactions.
    STRINGi 9606.ENSP00000299466.

    PTM databases

    PhosphoSitei Q9BXA9.

    Polymorphism databases

    DMDMi 296452896.

    Proteomic databases

    MaxQBi Q9BXA9.
    PaxDbi Q9BXA9.
    PRIDEi Q9BXA9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000536229 ; ENSP00000439975 ; ENSG00000256463 . [Q9BXA9-3 ]
    ENST00000537592 ; ENSP00000441823 ; ENSG00000256463 . [Q9BXA9-1 ]
    ENST00000575389 ; ENSP00000458360 ; ENSG00000256463 . [Q9BXA9-2 ]
    GeneIDi 27164.
    KEGGi hsa:27164.
    UCSCi uc002lmt.3. human. [Q9BXA9-1 ]
    uc010dra.3. human. [Q9BXA9-3 ]

    Organism-specific databases

    CTDi 27164.
    GeneCardsi GC18P076766.
    HGNCi HGNC:10527. SALL3.
    HPAi HPA016656.
    MIMi 605079. gene.
    neXtProti NX_Q9BXA9.
    PharmGKBi PA34935.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG293478.
    HOGENOMi HOG000231986.
    HOVERGENi HBG058921.
    InParanoidi Q9BXA9.
    OMAi MEVNGHS.
    OrthoDBi EOG7NCV2P.
    PhylomeDBi Q9BXA9.
    TreeFami TF317003.

    Miscellaneous databases

    GeneWikii SALL3.
    GenomeRNAii 27164.
    NextBioi 49956.
    PROi Q9BXA9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9BXA9.
    CleanExi HS_SALL3.
    Genevestigatori Q9BXA9.

    Family and domain databases

    Gene3Di 3.30.160.60. 9 hits.
    InterProi IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view ]
    SMARTi SM00355. ZnF_C2H2. 10 hits.
    [Graphical view ]
    PROSITEi PS00028. ZINC_FINGER_C2H2_1. 9 hits.
    PS50157. ZINC_FINGER_C2H2_2. 8 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Exclusion of HSALL3 and refinement of the region for the CCFDN gene."
      Gooding R., Angelicheva D., Blechschmidt K., Swoboda K., Molnar M., Tournev I., Kalaydjieva L.
      Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3), VARIANT VAL-593.
    2. "SALL3, a new member of the human spalt-like gene family, maps to 18q23."
      Kohlhase J., Hausmann S., Stojmenovic G., Dixkens C., Bink K., Schulz-Schaeffer W., Altmann M., Engel W.
      Genomics 62:216-222(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-1300, ALTERNATIVE SPLICING.
    3. Kohlhase J.
      Submitted (JUL-2002) to UniProtKB
      Cited for: SEQUENCE REVISION TO 787; 797-802; 808; 1138 AND 1141.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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-109; SER-919 AND SER-1177, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-143.

    Entry informationi

    Entry nameiSALL3_HUMAN
    AccessioniPrimary (citable) accession number: Q9BXA9
    Secondary accession number(s): Q9UGH1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2002
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 121 of the entry and version 2 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 18
      Human chromosome 18: 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