ESCRT-1, VPS37A näyttää vaaralliselta geeniltä; otan rakennetietoja enemmän.
https://www.ncbi.nlm.nih.gov/gene/137492https://ars.els-cdn.com/content/image/1-s2.0-S0014482708004333-gr1.jpg
- VPS37A known as
- HCRP1; PQBP2; SPG53
- 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]
- Expression
- Ubiquitous expression in testis (RPKM 6.8), placenta (RPKM 5.0) and 25 other tissues See more
- Orthologs mouse all
Preferred Names
- vacuolar protein sorting-associated protein 37A
- Names
- ESCRT-I complex subunit VPS37A
- hepatocellular carcinoma-related protein 1
- polyglutamine binding protein 2
- vacuolar protein sorting 37 homolog A
- Preferred Names
- vacuolar protein sorting-associated protein 37A
- Names
- ESCRT-I complex subunit VPS37A
- hepatocellular carcinoma-related protein 1
- polyglutamine binding protein 2
- vacuolar protein sorting 37 homolog A
Conserved Domain
Peptide sequence
Related articles in PubMed
-
HCRP1 downregulation confers poor prognosis and induces chemoresistance through regulation of EGFR-AKT pathway in human gastric cancer. Xu H, et al. Virchows Arch, 2017 Dec. PMID 28963677
-
HCRP1 regulates proliferation, invasion, and drug resistance via EGFR signaling in prostate cancer. Sun L, et al. Biomed Pharmacother, 2017 Jul. PMID 28458158
-
HCRP1 expression status is a significant prognostic marker in oral and oropharyngeal cancer. Perisanidis C, et al. Oral Dis, 2013 Mar. PMID 22891969
-
hVps37A Status affects prognosis and cetuximab sensitivity in ovarian cancer. Wittinger M, et al. Clin Cancer Res, 2011 Dec 15. PMID 22016507
-
HCRP1,
a novel gene that is downregulated in hepatocellular carcinoma,
encodes a growth-inhibitory protein. Xu Z, et al.
Biochem Biophys Res Commun, 2003 Nov 28. PMID 14623289
See citations in PubMed for homologs of this gene provided by HomoloGene
GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?
vacuolar protein sorting-associated protein 37A isoform 2 [Homo sapiens]
NCBI Reference Sequence: NP_001138624.1Identical Proteins FASTA Graphics
LOCUS NP_001138624 372 aa linear PRI 06-APR-2018
DEFINITION vacuolar protein sorting-associated protein 37A isoform 2 [Homo
sapiens].
ACCESSION NP_001138624
VERSION NP_001138624.1
DBSOURCE REFSEQ: accession NM_001145152.1
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 372)
AUTHORS Xu H, Miao ZF, Wang ZN, Zhao TT, Xu YY, Song YX, Huang JY, Zhang
JY, Liu XY, Wu JH and Xu HM.
TITLE HCRP1 downregulation confers poor prognosis and induces
chemoresistance through regulation of EGFR-AKT pathway in human
gastric cancer
JOURNAL Virchows Arch. 471 (6), 743-751 (2017)
PUBMED 28963677
REMARK GeneRIF: this study identifies HCRP1 downregulation correlates with
tumor stage, nodal metastasis, and poor patient survival in human
gastric cancer
REFERENCE 2 (residues 1 to 372)
AUTHORS Sun L, Lu J, Ding S, Bi D, Ding K, Niu Z and Liu P.
TITLE HCRP1 regulates proliferation, invasion, and drug resistance via
EGFR signaling in prostate cancer
JOURNAL Biomed. Pharmacother. 91, 202-207 (2017)
PUBMED 28458158
REMARK GeneRIF: HCRP1 is a negative regulator in prostate cancer
progression, metastasis and multi-drug resistance.
REFERENCE 3 (residues 1 to 372)
AUTHORS Yang W, Wang JG, Wang Q, Qin Y, Lin X, Zhou D, Ren K, Hou C, Xu J
and Liu X.
TITLE Decreased HCRP1 promotes breast cancer metastasis by enhancing EGFR
phosphorylation
JOURNAL Biochem. Biophys. Res. Commun. 477 (2), 222-228 (2016)
PUBMED 27311861
REMARK GeneRIF: The present data indicate that HCRP1 inhibits breast
cancer metastasis through downregulating EGFR phosphorylation.
REFERENCE 4 (residues 1 to 372)
AUTHORS Perisanidis C, Savarese-Brenner B, Wurger T, Wrba F, Huynh A,
Schopper C, Kornek G, Selzer E, Ewers R, Psyrri A, Krainer M and
Filipits M.
TITLE HCRP1 expression status is a significant prognostic marker in oral
and oropharyngeal cancer
JOURNAL Oral Dis 19 (2), 206-211 (2013)
PUBMED 22891969
REMARK GeneRIF: Low HCRP1 expression was found to be of adverse prognostic
significance in patients with oral and oropharyngeal squamous cell
carcinoma who received preoperative chemoradiotherapy
REFERENCE 5 (residues 1 to 372)
AUTHORS Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom
A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman
T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R and
Falik-Zaccai TC.
TITLE A founder mutation in Vps37A causes autosomal recessive complex
hereditary spastic paraparesis
JOURNAL J. Med. Genet. 49 (7), 462-472 (2012)
PUBMED 22717650
REMARK GeneRIF: The missense mutation c.1146A>T in Vps37A causes autosomal
recessive complex hereditary spastic paraparesis.
REFERENCE 6 (residues 1 to 372)
AUTHORS Stuchell MD, Garrus JE, Muller B, Stray KM, Ghaffarian S, McKinnon
R, Krausslich HG, Morham SG and Sundquist WI.
TITLE The human endosomal sorting complex required for transport
(ESCRT-I) and its role in HIV-1 budding
JOURNAL J. Biol. Chem. 279 (34), 36059-36071 (2004)
PUBMED 15218037
REFERENCE 7 (residues 1 to 372)
AUTHORS Xu Z, Liang L, Wang H, Li T and Zhao M.
TITLE HCRP1, a novel gene that is downregulated in hepatocellular
carcinoma, encodes a growth-inhibitory protein
JOURNAL Biochem. Biophys. Res. Commun. 311 (4), 1057-1066 (2003)
PUBMED 14623289
REMARK GeneRIF: Our results strongly suggest that HCRP1 might be a growth
inhibitory protein and associated with decreasing the invasion of
HCC cells
REFERENCE 8 (residues 1 to 372)
AUTHORS Lippincott-Schwartz J, Roberts TH and Hirschberg K.
TITLE Secretory protein trafficking and organelle dynamics in living
cells
JOURNAL Annu. Rev. Cell Dev. Biol. 16, 557-589 (2000)
PUBMED 11031247
REMARK Review article
REFERENCE 9 (residues 1 to 372)
AUTHORS Imafuku I, Waragai M, Takeuchi S, Kanazawa I, Kawabata M, Mouradian
MM and Okazawa H.
TITLE Polar amino acid-rich sequences bind to polyglutamine tracts
JOURNAL Biochem. Biophys. Res. Commun. 253 (1), 16-20 (1998)
PUBMED 9875212
REFERENCE 10 (residues 1 to 372)
AUTHORS Fink,J.K.
TITLE Hereditary Spastic Paraplegia Overview
JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
K and Amemiya A (Eds.);
GENEREVIEWS((R));
(1993)
PUBMED 20301682
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC091050.3, AF547097.1 and
AC124074.2.
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].
Transcript Variant: This variant (2) lacks an exon in the coding
region compared to variant 1. The encoded isoform (2) is shorter
but has the same N- and C-termini compared to isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1660805.139735.1,
SRR1803614.114674.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1965299, SAMEA1966682
[ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..372
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="8"
/map="8p22"
Protein 1..372
/product="vacuolar protein sorting-associated protein 37A
isoform 2"
/note="polyglutamine binding protein 2; vacuolar protein
sorting-associated protein 37A; ESCRT-I complex subunit
VPS37A; hepatocellular carcinoma-related protein 1;
vacuolar protein sorting 37 homolog A"
/calculated_mol_wt=41325
Region 210..351
/region_name="Mod_r"
/note="Modifier of rudimentary (Mod(r)) protein;
pfam07200"
/db_xref="CDD:284587"
CDS 1..372
/gene="VPS37A"
/gene_synonym="HCRP1; PQBP2; SPG53"
/coded_by="NM_001145152.1:354..1472"
/note="isoform 2 is encoded by transcript variant 2"
/db_xref="CCDS:CCDS47811.1"
/db_xref="GeneID:137492"
/db_xref="HGNC:HGNC:24928"
/db_xref="MIM:609927"
ORIGIN
1 mswlfpltks asssaagspg gltslqqqkq rlieslrnsh srllppqfpq ekpvisvypp
61 irhhlmdkqg vyvtsplvnn ftmhsdlgki iqslldefwk nppvlaptst afpylysnps
121 gmspyasqgf pflppyppqe anrsitslsv adtvssstts httakpaaps fgvlsnlplp
181 iptvdasipt sqngfgykmp dvpdafpels elsvsqltdm neqeevlleq fltlpqlkqi
241 itdkddlvks ieelarknll lepsleakrq tvldkyellt qmkstfekkm qrqhelsesc
301 sasalqarlk vaaheaeees dniaedfleg kmeiddflss fmekrtichc rrakeeklqq
361 aiamhsqfha pl
//
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