Gene Gene information from NCBI Gene database.
Entrez ID 137492
Gene name VPS37A subunit of ESCRT-I
Gene symbol VPS37A
Synonyms (NCBI Gene)
HCRP1PQBP2SPG53
Chromosome 8
Chromosome location 8p22
Summary This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular b
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs150912414 C>A Pathogenic, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs211694394 A>G,T Pathogenic Non coding transcript variant, missense variant, synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
380
miRTarBase ID miRNA Experiments Reference
MIRT019385 hsa-miR-148b-3p Microarray 17612493
MIRT050734 hsa-miR-18a-5p CLASH 23622248
MIRT651680 hsa-miR-7109-3p HITS-CLIP 23824327
MIRT651681 hsa-miR-3613-3p HITS-CLIP 23824327
MIRT651679 hsa-miR-483-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000813 Component ESCRT I complex IBA
GO:0000813 Component ESCRT I complex IDA 18005716, 20654576, 21757351
GO:0000813 Component ESCRT I complex IEA
GO:0000813 Component ESCRT I complex IPI 18005716, 21757351
GO:0000813 Component ESCRT I complex ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609927 24928 ENSG00000155975
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NEZ2
Protein name Vacuolar protein sorting-associated protein 37A (hVps37A) (ESCRT-I complex subunit VPS37A) (Hepatocellular carcinoma-related protein 1)
Protein function Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation. {ECO:0000269|PubMed:152408
PDB 8E22
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07200 Mod_r 235 380 Modifier of rudimentary (Mod(r)) protein Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Examined tissues include heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. More abundant in liver. Strongly decreased or undetected in hepatomas. {ECO:0000269|PubMed:14623289, ECO:0000269|PubMed:227
Sequence
MSWLFPLTKSASSSAAGSPGGLTSLQQQKQRLIESLRNSHSSIAEIQKDVEYRLPFTINN
LTININILLPPQFPQEKPVISVYPPIRHHLMDKQGVYVTSPLVNNFTMHSDLGKIIQSLL
DEFWKNPPVLAPTSTAFPYLYSNPSGMSPYASQGFPFLPPYPPQEANRSITSLSVADTVS
SSTTSHTTAKPAAPSFGVLSNLPLPIPTVDASIPTSQNGFGYKMPDVPDAFPELSELSVS
QLTDMNEQEEVLLEQFLTLPQLKQIITDKDDLVKSIEELARKNLLLEPSLEAKRQTVLDK
YELLTQMKSTFEKKMQRQHELSESCSASALQARLKVAAHEAEEESDNIAEDFLEGKMEID
DFLSSFMEKRTICHCRRAKE
EKLQQAIAMHSQFHAPL
Sequence length 397
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   Budding and maturation of HIV virion
Membrane binding and targetting of GAG proteins
Endosomal Sorting Complex Required For Transport (ESCRT)
HCMV Late Events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
175
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia 53 Pathogenic rs211694394 RCV000032956
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs17502618 RCV005896701
Cervical cancer Likely benign rs7007753 RCV005919158
Colon adenocarcinoma Conflicting classifications of pathogenicity rs755402438 RCV005931981
Familial cancer of breast Uncertain significance rs761357127 RCV005934727
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 25550832
Cognition Disorders Associate 33757599
Diabetic Nephropathies Inhibit 36465646
Hereditary Breast and Ovarian Cancer Syndrome Associate 33197651
Lymphatic Metastasis Inhibit 31929761
Neoplasm Metastasis Stimulate 31929761
Neoplasms Associate 25550832, 26304749, 33197651, 37733908
Prostatic Neoplasms Associate 31929761
Triple Negative Breast Neoplasms Inhibit 25550832