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VPS37A Gene

protein-coding   GIFtS: 56
GCID: GC08P017149

Vacuolar Protein Sorting 37 Homolog A (S. Cerevisiae)

(Previous names: vacuolar protein sorting 37A (yeast), polyglutamine binding...)
(Previous symbol: PQBP2)
  See VPS37A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Vacuolar Protein Sorting 37 Homolog A (S. Cerevisiae)1 2     SPG532 5
HCRP12 3 5     Hepatocellular Carcinoma Related Protein 11
PQBP21 2     Vacuolar Protein Sorting 37A (Yeast)1
Polyglutamine Binding Protein 21 2     Vacuolar Protein Sorting-Associated Protein 37A2
Hepatocellular Carcinoma-Related Protein 12 3     hVps37A3
ESCRT-I Complex Subunit VPS37A2 3     

External Ids:    HGNC: 249281   Entrez Gene: 1374922   Ensembl: ENSG000001559757   OMIM: 6099275   UniProtKB: Q8NEZ23   

Export aliases for VPS37A gene to outside databases

Previous GC identifer: GC08P015649


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VPS37A 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 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)

GeneCards Summary for VPS37A Gene:
VPS37A (vacuolar protein sorting 37 homolog A (S. cerevisiae)) is a protein-coding gene. Diseases associated with VPS37A include spastic paraplegia 53, autosomal recessive, and hepatocellular carcinoma. An important paralog of this gene is VPS37B.

UniProtKB/Swiss-Prot: VP37A_HUMAN, Q8NEZ2
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VPS37A gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   RP58   oct-B3   oct-B2   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVPS37A promoter sequence
   Search Chromatin IP Primers for VPS37A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VPS37A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p22   Ensembl cytogenetic band:  8p22   HGNC cytogenetic band: 8p22

VPS37A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS37A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P017149:  view genomic region     (about GC identifiers)

Start:
17,104,080 bp from pter      End:
17,159,936 bp from pter
Size:
55,857 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VP37A_HUMAN, Q8NEZ2 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 37A  
Size: 397 amino acids; 44314 Da
Subunit: Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of
TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoechiometry. Interacts with
TSG101, VPS28 and HGS. Component of an ESCRT-I complex (endosomal sorting complex required for transport I) which
consists of TSG101, VPS28, VPS37A and UBAP1 in a 1:1:1:1 stoechiometry
Sequence caution: Sequence=AAH22363.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q336D5 Q6NW27 Q8N3D7 Q8TBL7 Q96DL9
Alternative splicing: 3 isoforms:  Q8NEZ2-1   Q8NEZ2-2   Q8NEZ2-3   

Explore the universe of human proteins at neXtProt for VPS37A: NX_Q8NEZ2

Explore proteomics data for VPS37A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys29
  • Modification sites at PhosphoSitePlus

  • See VPS37A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138624.1  NP_689628.2  

    ENSEMBL proteins: 
     ENSP00000318629   ENSP00000429227   ENSP00000428823   ENSP00000430456   ENSP00000412824  
     ENSP00000429680   ENSP00000430933   ENSP00000429858   ENSP00000318173  
    Reactome Protein details: Q8NEZ2

    VPS37A Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for VPS37A 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR009851 Mod_r
     IPR016135 UBQ-conjugating_enzyme/RWD

    Graphical View of Domain Structure for InterPro Entry Q8NEZ2

    ProtoNet protein and cluster: Q8NEZ2

    UniProtKB/Swiss-Prot: VP37A_HUMAN, Q8NEZ2
    Similarity: Belongs to the VPS37 family
    Similarity: Contains 1 VPS37 C-terminal domain


    Find genes that share domains with VPS37A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VP37A_HUMAN, Q8NEZ2
    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

    Animal Models:

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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate VPS37A (see all 57):
    hsa-miR-300 hsa-miR-128 hsa-miR-301a hsa-miR-449a hsa-miR-105 hsa-miR-3916 hsa-miR-374a* hsa-miR-3161
    SwitchGear 3'UTR luciferase reporter plasmidVPS37A 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VP37A_HUMAN, Q8NEZ2: Late endosome membrane; Peripheral membrane protein. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    nucleus5
    cytoskeleton4
    cytosol2
    mitochondrion2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000813ESCRT I complex IDA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--

    Find genes that share ontologies with VPS37A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for VPS37A About    
    See pathways by source

    SuperPathContained pathways About
    1HIV Life Cycle
    HIV Life Cycle0.91
    Membrane binding and targetting of GAG proteins0.00
    Late Phase of HIV Life Cycle0.91
    Assembly Of The HIV Virion0.00
    HIV Infection0.62
    2Budding and maturation of HIV virion
    Budding and maturation of HIV virion0.64
    Endosomal Sorting Complex Required For Transport (ESCRT)0.64
    3Clathrin derived vesicle budding
    Membrane Trafficking0.32
    4Endocytosis
    Endocytosis
    5Disease
    Disease


    Find genes that share SuperPaths with VPS37A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for VPS37A
        Budding and maturation of HIV virion
    Membrane binding and targetting of GAG proteins
    Endosomal Sorting Complex Required For Transport (ESCRT)


    1 Kegg Pathway  (Kegg details for VPS37A):
        Endocytosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VPS37A
    Interactions:

        GeneGlobe Interaction Network for VPS37A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for VPS37A (Q8NEZ23 ENSP000003186294) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSG101Q998163, ENSP000002519684I2D: score=3 STRING: ENSP00000251968
    VPS28Q9UK413, ENSP000003665654I2D: score=2 STRING: ENSP00000366565
    MVB12AQ96EY53, ENSP000003248104I2D: score=1 STRING: ENSP00000324810
    MVB12BQ9H7P63, ENSP000003547724I2D: score=1 STRING: ENSP00000354772
    HGSO149643, ENSP000003312014I2D: score=1 STRING: ENSP00000331201
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0015031protein transport IEA--
    GO:0016032viral process TAS--
    GO:0016197endosomal transport TAS--
    GO:0019058viral life cycle TAS--

    Find genes that share ontologies with VPS37A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VPS37A (VP37A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for VPS37A gene (2 alternative transcripts): 
    NM_001145152.1  NM_152415.2  

    Unigene Cluster for VPS37A:

    Vacuolar protein sorting 37 homolog A (S. cerevisiae)
    Hs.343873  [show with all ESTs]
    Unigene Representative Sequence: NM_152415
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324849(uc003wxj.3 uc003wxk.3 uc003wxl.3) ENST00000519381
    ENST00000520140 ENST00000518038 ENST00000425020 ENST00000521829 ENST00000521005
    ENST00000521976 ENST00000521162 ENST00000520997 ENST00000519515 ENST00000324815

    miRNA
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    Block miRNA regulation of human, mouse, rat VPS37A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VPS37A (see all 57):
    hsa-miR-300 hsa-miR-128 hsa-miR-301a hsa-miR-449a hsa-miR-105 hsa-miR-3916 hsa-miR-374a* hsa-miR-3161
    SwitchGear 3'UTR luciferase reporter plasmidVPS37A 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): VPS37A (NM_001145152)
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    Primer
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    OriGene qPCR primer pairs and template standards for VPS37A
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      QuantiTect SYBR Green Assays in human, mouse, rat VPS37A
      QuantiFast Probe-based Assays in human, mouse, rat VPS37A

    Additional mRNA sequence: 

    AF547097.1 AK057204.1 AK090607.1 AK124607.1 AY033079.2 BC022363.1 BC067754.1 

    14 DOTS entries:

    DT.437095  DT.444683  DT.100740206  DT.100025346  DT.102823889  DT.100025347  DT.121478414  DT.75109131 
    DT.97841453  DT.453547  DT.40265325  DT.95073963  DT.100828231  DT.121478465 

    Selected AceView cDNA sequences (see all 223):

    CD172484 AY033079 AI334232 BF222701 CR600138 BE671828 BG569425 AI093786 
    AA394302 BM728040 BM129747 AA983228 AV708100 BC022363 BQ223872 BG569586 
    AA300702 AV708835 AA731894 Z45909 CK819670 BF059571 AI401381 N69815 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VPS37A (see all 13)    About this scheme

    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:                                                                                                                                                            

    ExUns: 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c · 16d
    SP1:                                            -     -                           
    SP2:                                            -     -                           
    SP3:                                            -     -                           
    SP4:              -                             -     -                           
    SP5:                                                                              


    ECgene alternative splicing isoforms for VPS37A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    VPS37A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTTTTAGC
    VPS37A Expression
    About this image


    VPS37A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    VPS37A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VPS37A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.343873

    UniProtKB/Swiss-Prot: VP37A_HUMAN, Q8NEZ2
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for VPS37A gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vps37a1 , 5 vacuolar protein sorting 37A (yeast)1, 5 89.08(n)1
    90.68(a)1
      8 (23.89 cM)5
    523481  NM_033560.31  NP_291038.21 
     405117835 
    chicken
    (Gallus gallus)
    Aves VPS37A1 vacuolar protein sorting 37 homolog A (S. cerevisiae) 77.58(n)
    79.95(a)
      422732  XM_004936000.1  XP_004936057.1 
    lizard
    (Anolis carolinensis)
    Reptilia VPS37A6
    vacuolar protein sorting 37 homolog A (S. cerevisi...
    82(a)
    1 ↔ 1
    5(108243146-108252831)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.298022 Xenopus laevis transcribed sequences 74.24(n)    CB561052.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb08f032 wufb08f03 74.53(n)   336368  BC059584.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mod(r)1 modifier of rudimentary 38.96(n)
    24.03(a)
      31006  NM_166848.2  NP_726679.1 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-376
    Protein VPS-37 (vps-37) mRNA, complete cds
    20(a)
    1 → many
    V(5592707-5593608) WBGene00016990


    ENSEMBL Gene Tree for VPS37A (if available)
    TreeFam Gene Tree for VPS37A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VPS37A gene
    VPS37B2  VPS37C2  VPS37D2  
    5 SIMAP similar genes for VPS37A using alignment to 6 protein entries:     VP37A_HUMAN (see all proteins):
    DOCK8    HDGFRP2    VPS37C    VPS37B    SEC14L3

    Find genes that share paralogs with VPS37A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for VPS37A
    PGOHUM00000235815


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for VPS37A (see all 1385)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0684244
    Spastic paraplegia 53, autosomal recessive (SPG53)4--see VAR_0684242 K N mis40--------
    rs2014921601,2
    C--15650632(+) CCTAA-/CCCCCT 2 -- int10--------
    rs2007403461,2
    --15675236(+) GTCAC-/TTTTTTT 2 -- int10--------
    rs106813231,2
    C--15675238(+) TCACT-/CT/TC 
            
    TTTTT
    2 -- int1 trp30--------
    rs339777181,2
    C--15675238(+) CACTT-/C/    
       CT
    /TC
    TTTTC
    2 -- int11NA 2
    rs32168661,2
    C--15700092(+) TATTA-/GATATTTTA
    GTCTTGTTGGG
    GATAT
    2 -- ut310--------
    rs586612531,2
    C--17113002(+) TGTGT-/GTG   
      T
    /TGTG
    ATGTG
    2 -- int10--------
    rs288781871,2
    C,F--17117685(+) TTCTTT/CGGTAG 2 -- int12Minor allele frequency- C:0.16WA 120
    rs1115139221,2
    C,F--17118765(+) CATGGA/CGAGCC 2 -- int12Minor allele frequency- C:0.08CSA WA 120
    rs569710941,2
    C--17121037(+) CTCAT-/AAAAAA 2 -- int11Minor allele frequency- A:0.00CSA 2

    HapMap Linkage Disequilibrium report for VPS37A (17104080 - 17159936 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for VPS37A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv890556CNV Loss21882294
    nsv518761CNV Loss19592680
    nsv831245CNV Gain17160897
    nsv831244CNV Gain17160897

    Human Gene Mutation Database (HGMD): VPS37A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VPS37A
    DNA2.0 Custom Variant and Variant Library Synthesis for VPS37A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609927   
    OMIM disorders: 614898  
    UniProtKB/Swiss-Prot: VP37A_HUMAN, Q8NEZ2
  • 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

  • 2 diseases for VPS37A:    
    About MalaCards
    spastic paraplegia 53, autosomal recessive    hepatocellular carcinoma

    1 disease from the University of Copenhagen DISEASES database for VPS37A:
    Hypertrichosis

    Find genes that share disorders with VPS37A           About GenesLikeMe

    Genetic Association Database (GAD): VPS37A

    Export disorders for VPS37A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for VPS37A gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with VPS37A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. (PubMed id 22717650)1, 2, 3 Zivony-Elboum Y.... Falik-Zaccai T.C. (J. Med. Genet. 2012)
    2. The human endosomal sorting complex required for transport (ESCRT-I) and its role in HIV-1 budding. (PubMed id 15218037)1, 2, 3 Stuchell M.D.... Sundquist W.I. (J. Biol. Chem. 2004)
    3. The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation. (PubMed id 15240819)1, 2, 3 Bache K.G....Stenmark H. (Mol. Biol. Cell 2004)
    4. UBAP1 is a component of an endosome-specific ESCRT-I complex that is essential for MVB sorting. (PubMed id 21757351)1, 2 Stefani F.... Woodman P. (Curr. Biol. 2011)
    5. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)1, 4 Levy D....Mitchell G.F. (BMC Med. Genet. 2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. HCRP1, a novel gene that is downregulated in hepatocellular carcinoma, encodes a growth-inhibitory protein. (PubMed id 14623289)1, 2 Xu Z.... Zhao M. (Biochem. Biophys. Res. Commun. 2003)
    8. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    9. The UBAP1 subunit of ESCRT-I interacts with ubiquitin via a SOUBA domain. (PubMed id 22405001)1 Agromayor M.... Williams R.L. (Structure 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 137492 HGNC: 24928 AceView: FLJ32642 Ensembl:ENSG00000155975 euGenes: HUgn137492
    ECgene: VPS37A Kegg: 137492 H-InvDB: VPS37A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for VPS37A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for VPS37A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for VPS37A gene:
    Search GeneIP for patents involving VPS37A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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