Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
137492
Gene name Gene Name - the full gene name approved by the HGNC.
VPS37A subunit of ESCRT-I
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VPS37A
Synonyms (NCBI Gene) Gene synonyms aliases
HCRP1, PQBP2, SPG53
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPG53
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000813 Component ESCRT I complex IBA 21873635
GO:0000813 Component ESCRT I complex IDA 18005716, 20654576, 21757351
GO:0000813 Component ESCRT I complex TAS 20588296
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609927 24928 ENSG00000155975
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Spastic paraplegia Spastic Paraplegia, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, Autosomal recessive spastic paraplegia type 53 rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520
View all (368 more)
22717650
Unknown
Disease term Disease name Evidence References Source
Spastic Paraplegia hereditary spastic paraplegia 53 GenCC
Associations from Text Mining
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