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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VPS37A Gene

protein-coding   GIFtS: 54
GCID: GC08P017149

Vacuolar Protein Sorting 37 Homolog A (S. Cerevisiae)

(Previous names: vacuolar protein sorting 37A (yeast), polyglutamine binding...)
(Previous symbol: PQBP2)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Vacuolar Protein Sorting 37 Homolog A (S. Cerevisiae)1 2     Hepatocellular Carcinoma Related Protein 11
HCRP12 3 5     Vacuolar Protein Sorting 37A (Yeast)1
PQBP21 2     SPG532
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 pectus carinatum, and hepatocellular carcinoma, and among its related super-pathways are HIV Life Cycle and Assembly Of The HIV Virion. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for VPS37A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Late endosome membrane; Peripheral membrane protein. Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NEZ2

  • VPS37A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VPS37A Protein Expression
    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
    Human Recombinant Protein Products for VPS37A: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (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--

    VPS37A for ontologies           About GeneDecksing



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

    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


    VPS37A for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for VPS37A About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1HIV Life Cycle
    HIV Life Cycle0.92
    HIV Infection0.61
    Late Phase of HIV Life Cycle0.92
    2Membrane binding and targetting of GAG proteins
    Membrane binding and targetting of GAG proteins0.85
    Synthesis And Processing Of GAG, GAGPOL Polyproteins0.85
    Assembly Of The HIV Virion0.85
    3Endosomal Sorting Complex Required For Transport (ESCRT)
    Endosomal Sorting Complex Required For Transport (ESCRT)0.71
    Budding and maturation of HIV virion0.71
    4Membrane Trafficking
    Membrane Trafficking0.32
    5Endocytosis
    Endocytosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/10        Reactome Pathways for VPS37A (see all 10)
        Late Phase of HIV Life Cycle
    Membrane Trafficking
    Budding and maturation of HIV virion
    Synthesis And Processing Of GAG, GAGPOL Polyproteins
    Endosomal Sorting Complex Required For Transport (ESCRT)


    1         Kegg Pathway  (Kegg details for VPS37A):
        Endocytosis


    VPS37A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VPS37A

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

    5/28 Interacting proteins for VPS37A (Q8NEZ23 ENSP000003186294) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSG101Q998163, ENSP000002519684I2D: score=3 STRING: ENSP00000251968
    VPS28Q9UK413, ENSP000003665654I2D: score=2 STRING: ENSP00000366565
    MVB12AQ96EY53, ENSP000003248104I2D: score=1 STRING: ENSP00000324810
    HGSO149643, ENSP000003312014I2D: score=1 STRING: ENSP00000331201
    MVB12BQ9H7P63, ENSP000003547724I2D: score=1 STRING: ENSP00000354772
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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:0019068virion assembly TAS--

    VPS37A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VPS37A (VP37A)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/223 AceView cDNA sequences (see all 223):

    AL834189 AA394302 AI093786 CR600138 BQ898849 AY033079 AA300702 AI753690 
    AA570006 CB962318 BG569425 AA731894 CD678642 BM728040 AI884475 BF222701 
    CD172484 AI915152 Z45909 AL598624 BF059571 AA934022 BG569586 AI401381 

    GeneLoc Exon Structure

    5/13 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See VPS37A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VPS37A

    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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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for VPS37A gene from 7/17 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) 78.54(n)
    81.68(a)
      422732  XM_420687.3  XP_420687.1 
    lizard
    (Anolis carolinensis)
    Reptilia VPS37A6
    Uncharacterized protein
    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_080295.2  NP_525034.2 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-376
    Protein VPS-37
    18(a)
    1 → many
    V(5592707-5593608)


    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)
    About This Section
    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

    VPS37A for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1385 SNPs in VPS37A are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609927    OMIM disorders: --

    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

  • 18 diseases for VPS37A:    About MalaCards
    pectus carinatum    hepatocellular carcinoma    hypertrichosis    paraplegia
    spasticity    optic atrophy    hereditary spastic paraplegia    spastic paraparesis
    ichthyosis    albinism    retinitis pigmentosa    peripheral neuropathy
    intellectual disability    dementia    neuropathy    retinitis
    cerebritis    ovarian cancer

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

    VPS37A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    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)
    About This Section

    PubMed articles for VPS37A gene, integrated from 9 sources (see all 28):
    (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. (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. (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. (2004)
    4. UBAP1 is a component of an endosome-specific ESCRT-I c omplex that is essential for MVB sorting. (PubMed id 21757351)1, 2 Stefani F....Woodman P. (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. (2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2003)
    8. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)
    9. The UBAP1 subunit of ESCRT-I interacts with ubiquitin via a SOUBA domain. (PubMed id 22405001)1 Agromayor M....Williams R.L. (2012)
    10. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 137492 HGNC: 24928 AceView: FLJ32642 Ensembl:ENSG00000155975 euGenes: HUgn137492
    ECgene: VPS37A Kegg: 137492 H-InvDB: VPS37A

    (According to HUGE)
    About This Section
      --

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



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    About This Section

     
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