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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 (VPS37A Subunit Of ESCRT-I) is a Protein Coding gene. Diseases associated with VPS37A include Spastic Paraplegia 53, Autosomal Recessive and Paraplegia. Among its related pathways are Budding and maturation of HIV virion and Endocytosis. An important paralog of this gene is VPS37B.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH08J017245 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.3 | 309 | 4 | BRCA1 SP1 CREB1 ZNF629 ZNF512 RFX1 LEF1 IKZF1 POLR2A ZNF692 | CNOT7 VPS37A lnc-MTMR7-2 ZDHHC2 MF281430-072 MTMR7 | |
GH08J017224 | Enhancer | 0.7 | Ensembl ENCODE | 13.1 | -20.8 | -20791 | 3 | TFE3 JUND CEBPB JUN FOS TRIM28 EP300 FOSL2 BHLHE40 POLR2A | lnc-CNOT7-2 ZDHHC2 VPS37A CNOT7 lnc-ZDHHC2-2 RF00017-6858 lnc-MTMR7-3 | |
GH08J017320 | Enhancer | 1.1 | Ensembl ENCODE | 5.6 | +74.5 | 74509 | 2 | GATAD2A ATF7 REST TFE3 SOX13 NFKBIZ RCOR2 FOXA1 ZIC2 RXRB | VPS37A ZDHHC2 MTMR7 lnc-CNOT7-4 LOC102724838 CNOT7 RF00017-6859 | |
GH08J017223 | Enhancer | 0.3 | Ensembl | 18.3 | -23.5 | -23491 | 0.4 | MNT | lnc-ZDHHC2-2 VPS37A CNOT7 ZDHHC2 RF00017-6858 lnc-CNOT7-3 | |
GH08J017314 | Enhancer | 0.3 | Ensembl | 6.2 | +68.1 | 68109 | 1.6 | JUN MEIS2 | VPS37A MTMR7 lnc-CNOT7-4 LOC102724838 CNOT7 RF00017-6859 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000813 | ESCRT I complex | IEA,TAS | 20588296 |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005813 | centrosome | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | HIV Life Cycle |
.91
.65
|
.45
|
2 | Budding and maturation of HIV virion | ||
3 | Vesicle-mediated transport | ||
4 | Endocytosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006612 | protein targeting to membrane | IBA | 21873635 |
GO:0006623 | protein targeting to vacuole | IBA | 21873635 |
GO:0015031 | protein transport | IEA | -- |
GO:0016197 | endosomal transport | TAS | -- |
GO:0016236 | macroautophagy | TAS | 20588296 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | · | 1h | · | 1i | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | ^ | 9a | · | 9b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - |
ExUns: | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | · | 16c | · | 16d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||
SP11: | - | ||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | VPS37A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | VPS37A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | VPS37A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Vps37a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Vps37a 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | VPS37A 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | VPS37A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | VPS37A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | VPS37A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | vps37a 30 |
|
||
Str.6793 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.29802 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | vps37a 30 31 |
|
OneToOne | |
wufb08f03 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.13062 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002538 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | mod(r) 30 |
|
||
CG1115 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | vps-37 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10674 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640364 | Uncertain Significance: Spastic paraplegia 53, autosomal recessive | 17,280,449(+) | A/G | INTRON_VARIANT | |
646254 | Uncertain Significance: Spastic paraplegia 53, autosomal recessive | 17,274,737(+) | T/C | MISSENSE_VARIANT | |
658146 | Uncertain Significance: Spastic paraplegia 53, autosomal recessive | 17,268,901(+) | G/A | MISSENSE_VARIANT | |
663795 | Uncertain Significance: Spastic paraplegia 53, autosomal recessive | 17,286,395(+) | G/T | MISSENSE_VARIANT | |
664639 | Uncertain Significance: Spastic paraplegia 53, autosomal recessive | 17,284,556(+) | C/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 53, autosomal recessive |
|
|
paraplegia |
|
|
spastic paraparesis |
|
|
transverse myelitis |
|
|
pectus carinatum |
|
|