Gene Gene information from NCBI Gene database.
Entrez ID 2619
Gene name Growth arrest specific 1
Gene symbol GAS1
Synonyms (NCBI Gene)
-
Chromosome 9
Chromosome location 9q21.33
Summary Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
518
miRTarBase ID miRNA Experiments Reference
MIRT020112 hsa-miR-130b-3p Sequencing 20371350
MIRT025001 hsa-miR-183-5p Sequencing 20371350
MIRT025257 hsa-miR-34a-5p Sequencing 20371350
MIRT025983 hsa-miR-148a-3p Sequencing 20371350
MIRT025257 hsa-miR-34a-5p Luciferase reporter assayqRT-PCRWestern blot 24220341
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21357679
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 8127893
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139185 4165 ENSG00000180447
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54826
Protein name Growth arrest-specific protein 1 (GAS-1)
Protein function Specific growth arrest protein involved in growth suppression. Blocks entry to S phase. Prevents cycling of normal and transformed cells. Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity). {ECO:0000250|UniProtKB:Q01721, ECO:0000269|PubM
PDB 7RHQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02351 GDNF 166 243 GDNF/GAS1 domain Domain
Sequence
MVAALLGGGGEARGGTVPGAWLCLMALLQLLGSAPRGSGLAHGRRLICWQALLQCQGEPE
CSYAYNQYAEACAPVLAQHGGGDAPGAAAAAFPASAASFSSRWRCPSHCISALIQLNHTR
RGPALEDCDCAQDENCKSTKRAIEPCLPRTSGGGAGGPGAGGVMGCTEARRRCDRDSRCN
LALSRYLTYCGKVFNGLRCTDECRTVIEDMLAMPKAALLNDCVCDGLERPICESVKENMA
RLC
FGAELGNGPGSSGSDGGLDDYYDEDYDDEQRTGGAGGEQPLDDDDGVPHPPRPGSGA
AASGGRGDLPYGPGRRSSGGGGRLAPRGAWTPLASILLLLLGPLF
Sequence length 345
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hedgehog signaling pathway   Ligand-receptor interactions
Activation of SMO
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CADASIL GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYCLOCEPHALY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Alobar Holoprosencephaly Alobar Holoprosencephaly CTD_human_DG 17525797
★☆☆☆☆
Found in Text Mining only
Alobar Holoprosencephaly Alobar Holoprosencephaly ORPHANET_DG
★☆☆☆☆
Found in Text Mining only
Alobar holoprosencephaly Alobar Holoprosencephaly Orphanet
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia HPO_DG
★☆☆☆☆
Found in Text Mining only
Arhinencephaly Arrhinencephaly CTD_human_DG 17525797
★☆☆☆☆
Found in Text Mining only
Asthma Asthma HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome Basal Cell Neoplasm BEFREE 7956349
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 8895761
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16155412
★☆☆☆☆
Found in Text Mining only