1. Gene
  2. VPS37A - VPS37A subunit of ESCRT-I Gene

VPS37A - VPS37A subunit of ESCRT-I Gene

Homo sapiens

Also known as HCRP1; PQBP2; SPG53

Gene ID: 137492 | Gene type: protein coding

About VPS37A

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:17,246,958-17,333,455 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 6.8), placenta (RPKM 5.0) and 25 other tissues.

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 bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

VPS37A Products(9)

mRNA Protein Name
NM_001145152.2 NP_001138624.1 vacuolar protein sorting-associated protein 37A isoform 2
NM_001363167.1 NP_001350096.1 vacuolar protein sorting-associated protein 37A isoform 3
NM_001363168.1 NP_001350097.1 vacuolar protein sorting-associated protein 37A isoform 4
NM_001363169.1 NP_001350098.1 vacuolar protein sorting-associated protein 37A isoform 4
NM_001363170.1 NP_001350099.1 vacuolar protein sorting-associated protein 37A isoform 5
NM_001363171.1 NP_001350100.1 vacuolar protein sorting-associated protein 37A isoform 5
NM_001363172.2 NP_001350101.1 vacuolar protein sorting-associated protein 37A isoform 5
NM_001363173.2 NP_001350102.1 vacuolar protein sorting-associated protein 37A isoform 1
NM_152415.3 NP_689628.2 vacuolar protein sorting-associated protein 37A isoform 1

VPS37A Protein Structure

Mod_r

Mod_r: Modifier of rudimentary (Mod(r)) protein (234 - 383)

  • 0
  • 100
  • 200
  • 300
  • 397 a.a.
Protein Preferred Names Protein Names

vacuolar protein sorting-associated protein 37A

ESCRT-I complex subunit VPS37A

Related Diseases

Diseases Alias
Spastic Paraplegia 53, Autosomal Recessive

SPG53

Hereditary Spastic Paraplegia 53

Autosomal Recessive Spastic Paraplegia Type 53

Autosomal Recessive Spastic Paraplegia 53

Paraplegia, Spastic, Type 53, Autosomal Recessive

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spastic Paraparesis
Spastic Paraplegia 80, Autosomal Dominant

SPG80

Hereditary Spastic Paraplegia 80

Spastic Paraplegia 80 Autosomal Dominant

Doid:0112341

Pectus Carinatum

Carinatum Deformity Of The Chest

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a

Low Compliance Bladder

Overactive Bladder

Hyperactivity Of Bladder

Hypertonic Bladder

Hypertonicity Of Bladder

Low Bladder Compliance

Oab - [Overactive Bladder]

Spastic Paraplegia, Optic Atrophy, And Neuropathy

Spoan Syndrome

SPOAN

Spastic Paraplegia, Optic Atropy, And Neuropathy

Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome

Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Spastic Paraplegia 42, Autosomal Dominant

SPG42

Hereditary Spastic Paraplegia 42

Autosomal Dominant Spastic Paraplegia Type 42

Autosomal Dominant Spastic Paraplegia 42

Paraplegia, Spastic, Type 42, Autosomal Dominant

Hypertrichosis
Spastic Paraplegia 10, Autosomal Dominant

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris VPS37A VGNC VGNC:48287
Mus musculus VPS37A MGD MGI:1261835
Rattus norvegicus VPS37A RGD RGD:1560016
Bos taurus VPS37A VGNC VGNC:36820
Felis catus VPS37A VGNC VGNC:80117