GAS1_HUMAN
ID GAS1_HUMAN Reviewed; 345 AA.
AC P54826; B9EGM4; Q6B086;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 16-DEC-2008, sequence version 2.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Growth arrest-specific protein 1;
DE Short=GAS-1;
DE Flags: Precursor;
GN Name=GAS1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND FUNCTION.
RC TISSUE=Liver;
RX PubMed=8127893; DOI=10.1073/pnas.91.5.1848;
RA del Sal G., Collavin L., Ruaro M.E., Edomi P., Saccone S., Valle G.D.,
RA Schneider C.;
RT "Structure, function, and chromosome mapping of the growth-suppressing
RT human homologue of the murine gas1 gene.";
RL Proc. Natl. Acad. Sci. U.S.A. 91:1848-1852(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Specific growth arrest protein involved in growth
CC suppression. Blocks entry to S phase. Prevents cycling of normal and
CC transformed cells. {ECO:0000269|PubMed:8127893}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-
CC anchor {ECO:0000250}.
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DR EMBL; L13698; AAA72368.1; -; mRNA.
DR EMBL; AL158149; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC074908; AAH74908.1; -; mRNA.
DR EMBL; BC074809; AAH74809.1; -; mRNA.
DR EMBL; BC132682; AAI32683.1; -; mRNA.
DR EMBL; BC136586; AAI36587.1; -; mRNA.
DR CCDS; CCDS6674.1; -.
DR PIR; A53138; A53138.
DR RefSeq; NP_002039.2; NM_002048.2.
DR PDB; 7RHQ; EM; 3.53 A; G=40-317.
DR PDBsum; 7RHQ; -.
DR AlphaFoldDB; P54826; -.
DR SMR; P54826; -.
DR BioGRID; 108889; 8.
DR IntAct; P54826; 1.
DR MINT; P54826; -.
DR STRING; 9606.ENSP00000298743; -.
DR GlyGen; P54826; 1 site.
DR iPTMnet; P54826; -.
DR PhosphoSitePlus; P54826; -.
DR BioMuta; GAS1; -.
DR DMDM; 218512049; -.
DR jPOST; P54826; -.
DR MassIVE; P54826; -.
DR MaxQB; P54826; -.
DR PaxDb; P54826; -.
DR PeptideAtlas; P54826; -.
DR PRIDE; P54826; -.
DR ProteomicsDB; 56734; -.
DR Antibodypedia; 13350; 253 antibodies from 31 providers.
DR DNASU; 2619; -.
DR Ensembl; ENST00000298743.9; ENSP00000298743.7; ENSG00000180447.7.
DR GeneID; 2619; -.
DR KEGG; hsa:2619; -.
DR MANE-Select; ENST00000298743.9; ENSP00000298743.7; NM_002048.3; NP_002039.2.
DR UCSC; uc004aox.5; human.
DR CTD; 2619; -.
DR DisGeNET; 2619; -.
DR GeneCards; GAS1; -.
DR GeneReviews; GAS1; -.
DR HGNC; HGNC:4165; GAS1.
DR HPA; ENSG00000180447; Tissue enhanced (endometrium).
DR MalaCards; GAS1; -.
DR MIM; 139185; gene.
DR neXtProt; NX_P54826; -.
DR OpenTargets; ENSG00000180447; -.
DR Orphanet; 93925; Alobar holoprosencephaly.
DR Orphanet; 93924; Lobar holoprosencephaly.
DR Orphanet; 280200; Microform holoprosencephaly.
DR Orphanet; 93926; Midline interhemispheric variant of holoprosencephaly.
DR Orphanet; 220386; Semilobar holoprosencephaly.
DR Orphanet; 280195; Septopreoptic holoprosencephaly.
DR PharmGKB; PA28578; -.
DR VEuPathDB; HostDB:ENSG00000180447; -.
DR eggNOG; ENOG502QSF7; Eukaryota.
DR GeneTree; ENSGT00390000001195; -.
DR HOGENOM; CLU_068697_1_0_1; -.
DR InParanoid; P54826; -.
DR OMA; TAGDSQY; -.
DR OrthoDB; 1071951at2759; -.
DR PhylomeDB; P54826; -.
DR TreeFam; TF329660; -.
DR PathwayCommons; P54826; -.
DR Reactome; R-HSA-5632681; Ligand-receptor interactions.
DR Reactome; R-HSA-5635838; Activation of SMO.
DR SignaLink; P54826; -.
DR SIGNOR; P54826; -.
DR BioGRID-ORCS; 2619; 15 hits in 1074 CRISPR screens.
DR ChiTaRS; GAS1; human.
DR GeneWiki; GAS1; -.
DR GenomeRNAi; 2619; -.
DR Pharos; P54826; Tbio.
DR PRO; PR:P54826; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; P54826; protein.
DR Bgee; ENSG00000180447; Expressed in germinal epithelium of ovary and 195 other tissues.
DR Genevisible; P54826; HS.
DR GO; GO:0046658; C:anchored component of plasma membrane; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0045165; P:cell fate commitment; ISS:UniProtKB.
DR GO; GO:0035924; P:cellular response to vascular endothelial growth factor stimulus; IEP:UniProtKB.
DR GO; GO:0048589; P:developmental growth; ISS:UniProtKB.
DR GO; GO:0045930; P:negative regulation of mitotic cell cycle; IDA:UniProtKB.
DR GO; GO:0010955; P:negative regulation of protein processing; IMP:UniProtKB.
DR GO; GO:0042981; P:regulation of apoptotic process; ISS:UniProtKB.
DR GO; GO:0060628; P:regulation of ER to Golgi vesicle-mediated transport; IMP:UniProtKB.
DR GO; GO:0008589; P:regulation of smoothened signaling pathway; ISS:UniProtKB.
DR InterPro; IPR039596; GAS1.
DR InterPro; IPR016017; GDNF/GAS1.
DR PANTHER; PTHR16840; PTHR16840; 1.
DR Pfam; PF02351; GDNF; 1.
DR SMART; SM00907; GDNF; 2.
PE 1: Evidence at protein level;
KW 3D-structure; Cell cycle; Cell membrane; Glycoprotein; GPI-anchor;
KW Growth arrest; Lipoprotein; Membrane; Reference proteome; Signal.
FT SIGNAL 1..39
FT /evidence="ECO:0000255"
FT CHAIN 40..318
FT /note="Growth arrest-specific protein 1"
FT /id="PRO_0000021318"
FT PROPEP 319..345
FT /note="Removed in mature form"
FT /evidence="ECO:0000255"
FT /id="PRO_0000021319"
FT REGION 254..328
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT LIPID 318
FT /note="GPI-anchor amidated serine"
FT /evidence="ECO:0000255"
FT CARBOHYD 117
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CONFLICT 216
FT /note="A -> V (in Ref. 1; AAA72368)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 345 AA; 35693 MW; 31A0CBEEC3632F82 CRC64;
MVAALLGGGG EARGGTVPGA WLCLMALLQL LGSAPRGSGL AHGRRLICWQ ALLQCQGEPE
CSYAYNQYAE ACAPVLAQHG GGDAPGAAAA AFPASAASFS SRWRCPSHCI SALIQLNHTR
RGPALEDCDC AQDENCKSTK RAIEPCLPRT SGGGAGGPGA GGVMGCTEAR RRCDRDSRCN
LALSRYLTYC GKVFNGLRCT DECRTVIEDM LAMPKAALLN DCVCDGLERP ICESVKENMA
RLCFGAELGN GPGSSGSDGG LDDYYDEDYD DEQRTGGAGG EQPLDDDDGV PHPPRPGSGA
AASGGRGDLP YGPGRRSSGG GGRLAPRGAW TPLASILLLL LGPLF
