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P54826

- GAS1_HUMAN

UniProt

P54826 - GAS1_HUMAN

Protein

Growth arrest-specific protein 1

Gene

GAS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 2 (16 Dec 2008)
      Previous versions | rss
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    Functioni

    Specific growth arrest protein involved in growth suppression. Blocks entry to S phase. Prevents cycling of normal and transformed cells.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. axon guidance Source: Ensembl
    2. camera-type eye development Source: Ensembl
    3. cell cycle arrest Source: UniProtKB-KW
    4. cell fate commitment Source: UniProtKB
    5. cellular response to vascular endothelial growth factor stimulus Source: UniProtKB
    6. cerebellum morphogenesis Source: Ensembl
    7. developmental growth Source: UniProtKB
    8. dorsal/ventral neural tube patterning Source: Ensembl
    9. embryonic cranial skeleton morphogenesis Source: Ensembl
    10. embryonic digit morphogenesis Source: Ensembl
    11. eye morphogenesis Source: Ensembl
    12. middle ear morphogenesis Source: Ensembl
    13. negative regulation of apoptotic process Source: Ensembl
    14. negative regulation of cell growth Source: Ensembl
    15. negative regulation of epithelial cell proliferation Source: Ensembl
    16. negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
    17. negative regulation of mitotic cell cycle Source: UniProtKB
    18. negative regulation of protein processing Source: UniProtKB
    19. negative regulation of smoothened signaling pathway Source: Ensembl
    20. odontogenesis Source: Ensembl
    21. outer ear morphogenesis Source: Ensembl
    22. palate development Source: Ensembl
    23. positive regulation of epithelial cell proliferation Source: Ensembl
    24. positive regulation of mesenchymal cell proliferation Source: Ensembl
    25. positive regulation of smoothened signaling pathway Source: Ensembl
    26. programmed cell death Source: Ensembl
    27. regulation of apoptotic process Source: UniProtKB
    28. regulation of ER to Golgi vesicle-mediated transport Source: UniProtKB
    29. regulation of smoothened signaling pathway Source: UniProtKB

    Keywords - Biological processi

    Cell cycle, Growth arrest

    Enzyme and pathway databases

    SignaLinkiP54826.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Growth arrest-specific protein 1
    Short name:
    GAS-1
    Gene namesi
    Name:GAS1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:4165. GAS1.

    Subcellular locationi

    Cell membrane By similarity; Lipid-anchorGPI-anchor By similarity

    GO - Cellular componenti

    1. anchored component of plasma membrane Source: UniProtKB
    2. integral component of membrane Source: UniProtKB
    3. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti93925. Alobar holoprosencephaly.
    93924. Lobar holoprosencephaly.
    280200. Microform holoprosencephaly.
    93926. Midline interhemispheric variant of holoprosencephaly.
    220386. Semilobar holoprosencephaly.
    280195. Septopreoptic holoprosencephaly.
    PharmGKBiPA28578.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3939Sequence AnalysisAdd
    BLAST
    Chaini40 – 318279Growth arrest-specific protein 1PRO_0000021318Add
    BLAST
    Propeptidei319 – 34527Removed in mature formSequence AnalysisPRO_0000021319Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi117 – 1171N-linked (GlcNAc...)Sequence Analysis
    Lipidationi318 – 3181GPI-anchor amidated serineSequence Analysis

    Keywords - PTMi

    Glycoprotein, GPI-anchor, Lipoprotein

    Proteomic databases

    MaxQBiP54826.
    PaxDbiP54826.
    PRIDEiP54826.

    PTM databases

    PhosphoSiteiP54826.

    Expressioni

    Gene expression databases

    BgeeiP54826.
    CleanExiHS_GAS1.
    GenevestigatoriP54826.

    Organism-specific databases

    HPAiCAB024164.
    HPA036085.

    Interactioni

    Protein-protein interaction databases

    BioGridi108889. 3 interactions.
    STRINGi9606.ENSP00000298743.

    Structurei

    3D structure databases

    ProteinModelPortaliP54826.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi87 – 915Poly-Ala
    Compositional biasi285 – 2884Poly-Asp
    Compositional biasi319 – 3224Poly-Gly
    Compositional biasi337 – 3415Poly-Leu

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG85081.
    HOGENOMiHOG000233688.
    HOVERGENiHBG005804.
    InParanoidiP54826.
    KOiK06232.
    OMAiCWQALLQ.
    OrthoDBiEOG7CNZGJ.
    PhylomeDBiP54826.
    TreeFamiTF329660.

    Family and domain databases

    InterProiIPR016017. GDNF/GAS1.
    [Graphical view]
    PfamiPF02351. GDNF. 2 hits.
    [Graphical view]
    SMARTiSM00907. GDNF. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P54826-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVAALLGGGG EARGGTVPGA WLCLMALLQL LGSAPRGSGL AHGRRLICWQ    50
    ALLQCQGEPE CSYAYNQYAE ACAPVLAQHG GGDAPGAAAA AFPASAASFS 100
    SRWRCPSHCI SALIQLNHTR RGPALEDCDC AQDENCKSTK RAIEPCLPRT 150
    SGGGAGGPGA GGVMGCTEAR RRCDRDSRCN LALSRYLTYC GKVFNGLRCT 200
    DECRTVIEDM LAMPKAALLN DCVCDGLERP ICESVKENMA RLCFGAELGN 250
    GPGSSGSDGG LDDYYDEDYD DEQRTGGAGG EQPLDDDDGV PHPPRPGSGA 300
    AASGGRGDLP YGPGRRSSGG GGRLAPRGAW TPLASILLLL LGPLF 345
    Length:345
    Mass (Da):35,693
    Last modified:December 16, 2008 - v2
    Checksum:i31A0CBEEC3632F82
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti216 – 2161A → V in AAA72368. (PubMed:8127893)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L13698 mRNA. Translation: AAA72368.1.
    AL158149 Genomic DNA. Translation: CAH71308.1.
    BC074908 mRNA. Translation: AAH74908.1.
    BC074809 mRNA. Translation: AAH74809.1.
    BC132682 mRNA. Translation: AAI32683.1.
    BC136586 mRNA. Translation: AAI36587.1.
    CCDSiCCDS6674.1.
    PIRiA53138.
    RefSeqiNP_002039.2. NM_002048.2.
    UniGeneiHs.65029.

    Genome annotation databases

    EnsembliENST00000298743; ENSP00000298743; ENSG00000180447.
    GeneIDi2619.
    KEGGihsa:2619.
    UCSCiuc004aox.4. human.

    Polymorphism databases

    DMDMi218512049.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L13698 mRNA. Translation: AAA72368.1 .
    AL158149 Genomic DNA. Translation: CAH71308.1 .
    BC074908 mRNA. Translation: AAH74908.1 .
    BC074809 mRNA. Translation: AAH74809.1 .
    BC132682 mRNA. Translation: AAI32683.1 .
    BC136586 mRNA. Translation: AAI36587.1 .
    CCDSi CCDS6674.1.
    PIRi A53138.
    RefSeqi NP_002039.2. NM_002048.2.
    UniGenei Hs.65029.

    3D structure databases

    ProteinModelPortali P54826.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108889. 3 interactions.
    STRINGi 9606.ENSP00000298743.

    PTM databases

    PhosphoSitei P54826.

    Polymorphism databases

    DMDMi 218512049.

    Proteomic databases

    MaxQBi P54826.
    PaxDbi P54826.
    PRIDEi P54826.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298743 ; ENSP00000298743 ; ENSG00000180447 .
    GeneIDi 2619.
    KEGGi hsa:2619.
    UCSCi uc004aox.4. human.

    Organism-specific databases

    CTDi 2619.
    GeneCardsi GC09M089559.
    H-InvDB HIX0034867.
    HGNCi HGNC:4165. GAS1.
    HPAi CAB024164.
    HPA036085.
    MIMi 139185. gene.
    neXtProti NX_P54826.
    Orphaneti 93925. Alobar holoprosencephaly.
    93924. Lobar holoprosencephaly.
    280200. Microform holoprosencephaly.
    93926. Midline interhemispheric variant of holoprosencephaly.
    220386. Semilobar holoprosencephaly.
    280195. Septopreoptic holoprosencephaly.
    PharmGKBi PA28578.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG85081.
    HOGENOMi HOG000233688.
    HOVERGENi HBG005804.
    InParanoidi P54826.
    KOi K06232.
    OMAi CWQALLQ.
    OrthoDBi EOG7CNZGJ.
    PhylomeDBi P54826.
    TreeFami TF329660.

    Enzyme and pathway databases

    SignaLinki P54826.

    Miscellaneous databases

    GeneWikii GAS1.
    GenomeRNAii 2619.
    NextBioi 10313.
    PROi P54826.
    SOURCEi Search...

    Gene expression databases

    Bgeei P54826.
    CleanExi HS_GAS1.
    Genevestigatori P54826.

    Family and domain databases

    InterProi IPR016017. GDNF/GAS1.
    [Graphical view ]
    Pfami PF02351. GDNF. 2 hits.
    [Graphical view ]
    SMARTi SM00907. GDNF. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structure, function, and chromosome mapping of the growth-suppressing human homologue of the murine gas1 gene."
      del Sal G., Collavin L., Ruaro M.E., Edomi P., Saccone S., Valle G.D., Schneider C.
      Proc. Natl. Acad. Sci. U.S.A. 91:1848-1852(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
      Tissue: Liver.
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
      Tissue: Testis.

    Entry informationi

    Entry nameiGAS1_HUMAN
    AccessioniPrimary (citable) accession number: P54826
    Secondary accession number(s): B9EGM4, Q6B086
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: December 16, 2008
    Last modified: October 1, 2014
    This is version 104 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 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3