VP37A_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
VPS37A
, HCRP1
Protein names and data:
VP37A_HUMAN
, Vacuolar protein sorting-associated protein 37A; hVps37A
, ESCRT-I complex subunit VPS37A; Hepatocellular carcinoma-related protein 1
Lenght: 397 a.a.
Mass: 44314 Da
fasta formatted sequence
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.
Disease:
( OMIM:
609927
614898
)
Spastic paraplegia 53, autosomal recessive (SPG53) [MIM:614898]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are characterized by the addition of such neurological features as spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations such as dysmorphism, albinism, retinitis pigmentosa, deafness, dementia, amyotrophy and ichthyosis. SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Late endosome membrane; Peripheral membrane protein. Nucleus.
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.
Genetic variants
206 - 206
I -> F (in dbSNP:rs17502618). VAR_032287
17502618
213 - 213
I -> V (in dbSNP:rs17687375). VAR_032288
17687375
382 - 382
K -> N (in SPG53; found in patients with complex hereditary spastic paraparesis; hypomorphic mutation; does not affect interaction with TSG101 and VPS28). VAR_068424
Database cross-references
UniProt:
Q8NEZ2
Ensembl:
ENST00000324815
Ensembl:
ENST00000324849
Ensembl:
ENST00000425020
Ensembl:
ENST00000521829
MIM:
609927
MIM:
614898
neXtProt:
NX_Q8NEZ2
Antibodypedia:
Q8NEZ2
(may not find the protein thus also not any antibody)
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