Gene Gene information from NCBI Gene database.
Entrez ID 64114
Gene name Transmembrane BAX inhibitor motif containing 1
Gene symbol TMBIM1
Synonyms (NCBI Gene)
LFG3MST100MSTP100PP1201RECS1
Chromosome 2
Chromosome location 2q35
miRNA miRNA information provided by mirtarbase database.
340
miRTarBase ID miRNA Experiments Reference
MIRT004039 hsa-miR-124-3p Microarray 15685193
MIRT004039 hsa-miR-124-3p Microarray 18668037
MIRT041366 hsa-miR-193b-3p CLASH 23622248
MIRT1427702 hsa-miR-1277 CLIP-seq
MIRT1427703 hsa-miR-4286 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 25764978
GO:0005123 Function Death receptor binding IDA 21107705
GO:0005262 Function Calcium channel activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005764 Component Lysosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610364 23410 ENSG00000135926
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969X1
Protein name Protein lifeguard 3 (Protein RECS1 homolog) (Transmembrane BAX inhibitor motif-containing protein 1)
Protein function Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01027 Bax1-I 96 307 Inhibitor of apoptosis-promoting Bax1 Family
Sequence
Sequence length 311
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Moyamoya angiopathy Likely pathogenic rs1404218898 RCV004704492
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 32170005
Colorectal Neoplasms Associate 32170005
Neoplasms Associate 22904677
Non alcoholic Fatty Liver Disease Associate 34099068