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Q9NSC2

- SALL1_HUMAN

UniProt

Q9NSC2 - SALL1_HUMAN

Protein

Sal-like protein 1

Gene

SALL1

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 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Transcriptional repressor involved in organogenesis.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri449 – 47123C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri477 – 49923C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri706 – 72823C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri734 – 75623C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri766 – 78823C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1001 – 102323C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1029 – 105123C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1134 – 115623C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1162 – 118423C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. beta-catenin binding Source: UniProtKB
    2. chromatin binding Source: Ensembl
    3. DNA binding Source: UniProtKB
    4. metal ion binding Source: UniProtKB-KW
    5. protein binding Source: UniProtKB
    6. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. adrenal gland development Source: UniProtKB
    2. branching involved in ureteric bud morphogenesis Source: UniProtKB
    3. embryonic digestive tract development Source: UniProtKB
    4. embryonic digit morphogenesis Source: UniProtKB
    5. forelimb morphogenesis Source: Ensembl
    6. gonad development Source: UniProtKB
    7. heart development Source: UniProtKB
    8. hindlimb morphogenesis Source: Ensembl
    9. histone deacetylation Source: GOC
    10. inductive cell-cell signaling Source: UniProtKB
    11. kidney development Source: UniProtKB
    12. kidney epithelium development Source: UniProtKB
    13. limb development Source: UniProtKB
    14. mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKB
    15. negative regulation of smoothened signaling pathway Source: Ensembl
    16. negative regulation of transcription, DNA-templated Source: UniProtKB
    17. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    18. neural tube closure Source: Ensembl
    19. olfactory bulb interneuron differentiation Source: UniProtKB
    20. olfactory bulb mitral cell layer development Source: UniProtKB
    21. olfactory nerve development Source: UniProtKB
    22. outer ear morphogenesis Source: UniProtKB
    23. pituitary gland development Source: UniProtKB
    24. positive regulation of neuron differentiation Source: Ensembl
    25. positive regulation of transcription, DNA-templated Source: UniProtKB
    26. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    27. positive regulation of Wnt signaling pathway Source: UniProtKB
    28. regulation of neural precursor cell proliferation Source: Ensembl
    29. transcription, DNA-templated Source: UniProtKB-KW
    30. ureteric bud development Source: UniProtKB
    31. ureteric bud invasion Source: UniProtKB
    32. ventricular septum development Source: UniProtKB

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sal-like protein 1
    Alternative name(s):
    Spalt-like transcription factor 1
    Zinc finger protein 794
    Zinc finger protein SALL1
    Zinc finger protein Spalt-1
    Short name:
    HSal1
    Short name:
    Sal-1
    Gene namesi
    Name:SALL1
    Synonyms:SAL1, ZNF794
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:10524. SALL1.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. chromocenter Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. heterochromatin Source: UniProtKB
    4. nucleus Source: UniProtKB
    5. NuRD complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Townes-Brocks syndrome (TBS) [MIM:107480]: Rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss.
    Note: The disease is caused by mutations affecting the gene represented in this entry. Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS and bronchio-oto-renal syndrome. Clinical features include dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, hypospadias, and mild developmental delay. Affected individuals lack the characteristic anal or hand malformations of TBS.

    Organism-specific databases

    MIMi107480. phenotype.
    Orphaneti857. Townes-Brocks syndrome.
    PharmGKBiPA34932.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13241324Sal-like protein 1PRO_0000047020Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei593 – 5931Phosphoserine1 Publication
    Modified residuei595 – 5951Phosphoserine1 Publication
    Modified residuei941 – 9411Phosphoserine1 Publication
    Modified residuei943 – 9431Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9NSC2.
    PaxDbiQ9NSC2.
    PRIDEiQ9NSC2.

    PTM databases

    PhosphoSiteiQ9NSC2.

    Expressioni

    Tissue specificityi

    Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.

    Developmental stagei

    In fetal brain exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle.

    Gene expression databases

    ArrayExpressiQ9NSC2.
    BgeeiQ9NSC2.
    CleanExiHS_SALL1.
    GenevestigatoriQ9NSC2.

    Organism-specific databases

    HPAiHPA049829.

    Interactioni

    Subunit structurei

    Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 By similarity. Interacts with FAM58A. Probably associates with NuRD histone deacetylase complex (HDAC).By similarity1 Publication

    Protein-protein interaction databases

    BioGridi112206. 6 interactions.
    STRINGi9606.ENSP00000251020.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NSC2.
    SMRiQ9NSC2. Positions 388-502, 685-784, 999-1184.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi150 – 15910Poly-Ser
    Compositional biasi160 – 1634Poly-Gly
    Compositional biasi237 – 2404Poly-Gln
    Compositional biasi294 – 2974Poly-Ala
    Compositional biasi371 – 3755Poly-Ser
    Compositional biasi1144 – 11474Poly-Ser

    Sequence similaritiesi

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

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri449 – 47123C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri477 – 49923C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri706 – 72823C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri734 – 75623C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri766 – 78823C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1001 – 102323C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1029 – 105123C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1134 – 115623C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1162 – 118423C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG293478.
    HOGENOMiHOG000231986.
    HOVERGENiHBG058921.
    InParanoidiQ9NSC2.
    OMAiCTKNQLV.
    OrthoDBiEOG7NCV2P.
    PhylomeDBiQ9NSC2.
    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. 9 hits.
    [Graphical view]
    PROSITEiPS00028. ZINC_FINGER_C2H2_1. 9 hits.
    PS50157. ZINC_FINGER_C2H2_2. 9 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NSC2-1) [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 HFQSDPEVAS LPRRDGDTEK GQPSRPTKSK DAHVCGRCCA     50
    EFFELSDLLL HKKNCTKNQL VLIVNENPAS PPETFSPSPP PDNPDEQMND 100
    TVNKTDQVDC SDLSEHNGLD REESMEVEAP VANKSGSGTS SGSHSSTAPS 150
    SSSSSSSSSG GGGSSSTGTS AITTSLPQLG DLTTLGNFSV INSNVIIENL 200
    QSTKVAVAQF SQEARCGGAS GGKLAVPALM EQLLALQQQQ IHQLQLIEQI 250
    RHQILLLASQ NADLPTSSSP SQGTLRTSAN PLSTLSSHLS QQLAAAAGLA 300
    QSLASQSASI SGVKQLPPIQ LPQSSSGNTI IPSNSGSSPN MNILAAAVTT 350
    PSSEKVASSA GASHVSNPAV SSSSSPAFAI SSLLSPASNP LLPQQASANS 400
    VFPSPLPNIG TTAEDLNSLS ALAQQRKSKP PNVTAFEAKS TSDEAFFKHK 450
    CRFCAKVFGS DSALQIHLRS HTGERPFKCN ICGNRFSTKG NLKVHFQRHK 500
    EKYPHIQMNP YPVPEHLDNI PTSTGIPYGM SIPPEKPVTS WLDTKPVLPT 550
    LTTSVGLPLP PTLPSLIPFI KTEEPAPIPI SHSATSPPGS VKSDSGGPES 600
    ATRNLGGLPE EAEGSTLPPS GGKSEESGMV TNSVPTASSS VLSSPAADCG 650
    PAGSATTFTN PLLPLMSEQF KAKFPFGGLL DSAQASETSK LQQLVENIDK 700
    KATDPNECII CHRVLSCQSA LKMHYRTHTG ERPFKCKICG RAFTTKGNLK 750
    THYSVHRAMP PLRVQHSCPI CQKKFTNAVV LQQHIRMHMG GQIPNTPVPD 800
    SYSESMESDT GSFDEKNFDD LDNFSDENME DCPEGSIPDT PKSADASQDS 850
    LSSSPLPLEM SSIAALENQM KMINAGLAEQ LQASLKSVEN GSIEGDVLTN 900
    DSSSVGGDME SQSAGSPAIS ESTSSMQALS PSNSTQEFHK SPSIEEKPQR 950
    AVPSEFANGL SPTPVNGGAL DLTSSHAEKI IKEDSLGILF PFRDRGKFKN 1000
    TACDICGKTF ACQSALDIHY RSHTKERPFI CTVCNRGFST KGNLKQHMLT 1050
    HQMRDLPSQL FEPSSNLGPN QNSAVIPANS LSSLIKTEVN GFVHVSPQDS 1100
    KDTPTSHVPS GPLSSSATSP VLLPALPRRT PKQHYCNTCG KTFSSSSALQ 1150
    IHERTHTGEK PFACTICGRA FTTKGNLKVH MGTHMWNSTP ARRGRRLSVD 1200
    GPMTFLGGNP VKFPEMFQKD LAARSGSGDP SSFWNQYAAA LSNGLAMKAN 1250
    EISVIQNGGI PPIPGSLGSG NSSPVSGLTG NLERLQNSEP NAPLAGLEKM 1300
    ASSENGTNFR FTRFVEDSKE IVTS 1324
    Length:1,324
    Mass (Da):140,405
    Last modified:May 18, 2010 - v2
    Checksum:i41AFA91ADEBEEF8C
    GO
    Isoform 2 (identifier: Q9NSC2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-97: Missing.

    Show »
    Length:1,227
    Mass (Da):129,571
    Checksum:iF972D86743DED721
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti79 – 791A → G in CAB41400. (PubMed:9973281)Curated
    Sequence conflicti562 – 5621T → S in CAB41400. (PubMed:9973281)Curated
    Sequence conflicti562 – 5621T → S in CAB41399. (PubMed:9973281)Curated
    Sequence conflicti1275 – 12751V → I in CAB41400. (PubMed:9973281)Curated
    Sequence conflicti1275 – 12751V → I in CAB41399. (PubMed:9973281)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti150 – 1501S → SS.1 Publication
    VAR_013156
    Natural varianti150 – 1501Missing.1 Publication
    VAR_013155
    Natural varianti159 – 1591S → G.1 Publication
    Corresponds to variant rs13336129 [ dbSNP | Ensembl ].
    VAR_013157
    Natural varianti164 – 1641Missing.1 Publication
    VAR_013158
    Natural varianti1265 – 12651G → E.1 Publication
    Corresponds to variant rs149302006 [ dbSNP | Ensembl ].
    VAR_013159

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9797Missing in isoform 2. 1 PublicationVSP_040502Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y18265 mRNA. Translation: CAB41400.1.
    Y18264, X98833 Genomic DNA. Translation: CAB41399.1.
    AC009166 Genomic DNA. No translation available.
    AK307835 mRNA. No translation available.
    AF017655 Genomic DNA. Translation: AAB99908.1.
    AF074949 Genomic DNA. Translation: AAF19263.1.
    CCDSiCCDS10747.1. [Q9NSC2-1]
    CCDS45483.1. [Q9NSC2-2]
    RefSeqiNP_001121364.1. NM_001127892.1. [Q9NSC2-2]
    NP_002959.2. NM_002968.2. [Q9NSC2-1]
    XP_006721304.1. XM_006721241.1. [Q9NSC2-1]
    UniGeneiHs.135787.

    Genome annotation databases

    EnsembliENST00000251020; ENSP00000251020; ENSG00000103449. [Q9NSC2-1]
    ENST00000440970; ENSP00000407914; ENSG00000103449. [Q9NSC2-2]
    GeneIDi6299.
    KEGGihsa:6299.
    UCSCiuc021tid.1. human. [Q9NSC2-1]

    Polymorphism databases

    DMDMi296452895.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y18265 mRNA. Translation: CAB41400.1 .
    Y18264 , X98833 Genomic DNA. Translation: CAB41399.1 .
    AC009166 Genomic DNA. No translation available.
    AK307835 mRNA. No translation available.
    AF017655 Genomic DNA. Translation: AAB99908.1 .
    AF074949 Genomic DNA. Translation: AAF19263.1 .
    CCDSi CCDS10747.1. [Q9NSC2-1 ]
    CCDS45483.1. [Q9NSC2-2 ]
    RefSeqi NP_001121364.1. NM_001127892.1. [Q9NSC2-2 ]
    NP_002959.2. NM_002968.2. [Q9NSC2-1 ]
    XP_006721304.1. XM_006721241.1. [Q9NSC2-1 ]
    UniGenei Hs.135787.

    3D structure databases

    ProteinModelPortali Q9NSC2.
    SMRi Q9NSC2. Positions 388-502, 685-784, 999-1184.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112206. 6 interactions.
    STRINGi 9606.ENSP00000251020.

    PTM databases

    PhosphoSitei Q9NSC2.

    Polymorphism databases

    DMDMi 296452895.

    Proteomic databases

    MaxQBi Q9NSC2.
    PaxDbi Q9NSC2.
    PRIDEi Q9NSC2.

    Protocols and materials databases

    DNASUi 6299.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000251020 ; ENSP00000251020 ; ENSG00000103449 . [Q9NSC2-1 ]
    ENST00000440970 ; ENSP00000407914 ; ENSG00000103449 . [Q9NSC2-2 ]
    GeneIDi 6299.
    KEGGi hsa:6299.
    UCSCi uc021tid.1. human. [Q9NSC2-1 ]

    Organism-specific databases

    CTDi 6299.
    GeneCardsi GC16M051217.
    GeneReviewsi SALL1.
    HGNCi HGNC:10524. SALL1.
    HPAi HPA049829.
    MIMi 107480. phenotype.
    602218. gene.
    neXtProti NX_Q9NSC2.
    Orphaneti 857. Townes-Brocks syndrome.
    PharmGKBi PA34932.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG293478.
    HOGENOMi HOG000231986.
    HOVERGENi HBG058921.
    InParanoidi Q9NSC2.
    OMAi CTKNQLV.
    OrthoDBi EOG7NCV2P.
    PhylomeDBi Q9NSC2.
    TreeFami TF317003.

    Miscellaneous databases

    GeneWikii SALL1.
    GenomeRNAii 6299.
    NextBioi 24455.
    PROi Q9NSC2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NSC2.
    Bgeei Q9NSC2.
    CleanExi HS_SALL1.
    Genevestigatori Q9NSC2.

    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. 9 hits.
    [Graphical view ]
    PROSITEi PS00028. ZINC_FINGER_C2H2_1. 9 hits.
    PS50157. ZINC_FINGER_C2H2_2. 9 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), DISEASE, VARIANTS SER-150 DEL; SER-150 INS AND GLY-159.
    2. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient."
      Marlin S., Blanchard S., Lacombe D., Denoyelle F., Alessandri J.-L., Calzolari E., Drouin-Garraud V., Ferraz F.G., Fourmaintraux A., Philip N., Toublanc J.E., Petit C.
      Hum. Mutat. 14:377-386(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26 (ISOFORM 1), DISEASE, VARIANTS SER-164 DEL AND GLU-1265.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1058 (ISOFORM 2).
    5. "Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt."
      Kohlhase J., Schuh R., Dowe G., Kuehnlein R.P., Jaeckle H., Schroeder B., Schulz-Schaeffer W., Kretzschmar H.A., Koehler A., Mueller U., Raab-Vetter M., Burkhardt E., Engel W., Stick R.
      Genomics 38:291-298(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-1324 (ISOFORM 1).
    6. "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome."
      Kohlhase J., Wischermann A., Reichenbach H., Froster U., Engel W.
      Nat. Genet. 18:81-83(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 313-345 (ISOFORM 1), DISEASE.
    7. "Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations."
      Unger S., Boehm D., Kaiser F.J., Kaulfuss S., Borozdin W., Buiting K., Burfeind P., Boehm J., Barrionuevo F., Craig A., Borowski K., Keppler-Noreuil K., Schmitt-Mechelke T., Steiner B., Bartholdi D., Lemke J., Mortier G., Sandford R.
      , Zabel B., Superti-Furga A., Kohlhase J.
      Nat. Genet. 40:287-289(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FAM58A.
    8. "A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype."
      Engels S., Kohlhase J., McGaughran J.
      J. Med. Genet. 37:458-460(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    9. "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-593; SER-595; SER-941 AND SER-943, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiSALL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NSC2
    Secondary accession number(s): Q99881, Q9NSC3, Q9P1R0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2002
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 126 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 16
      Human chromosome 16: 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