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CHMP1A charged multivesicular body protein 1A [ Homo sapiens (human) ]

Gene ID: 5119, updated on 24-Jan-2015
Official Symbol
CHMP1Aprovided by HGNC
Official Full Name
charged multivesicular body protein 1Aprovided by HGNC
Primary source
HGNC:HGNC:8740
See related
Ensembl:ENSG00000131165; HPRD:01237; MIM:164010; Vega:OTTHUMG00000169521
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PCH8; CHMP1; PRSM1; PCOLN3; VPS46A; VPS46-1
Summary
This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Orthologs
See CHMP1A in MapViewer
Location:
16q24.3
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (89644431..89657785, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89710839..89724193, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene copine VII Neighboring gene dipeptidase 1 (renal) Neighboring gene fibroin heavy chain-like Neighboring gene spermatogenesis associated 33 Neighboring gene cyclin-dependent kinase 10 Neighboring gene spermatogenesis associated 2-like Neighboring gene VPS9D1 antisense RNA 1 Neighboring gene VPS9 domain containing 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Pontocerebellar hypoplasia type 8
MedGen: CN162972 OMIM: 614961 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association study in Han Chinese identifies three novel loci for human height.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0047

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metallopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell separation after cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
gene silencing IDA
Inferred from Direct Assay
more info
PubMed 
mitotic chromosome condensation IDA
Inferred from Direct Assay
more info
PubMed 
mitotic metaphase plate congression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by glucose IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
nucleus organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
proteolysis TAS
Traceable Author Statement
more info
PubMed 
regulation of centrosome duplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitotic spindle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
vacuolar transport IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
ESCRT III complex IEA
Inferred from Electronic Annotation
more info
 
condensed nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
endomembrane system IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
microtubule organizing center IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
charged multivesicular body protein 1a
Names
charged multivesicular body protein 1a
protease, metallo, 1, 33kD
chromatin modifying protein 1A
procollagen (type III) N-endopeptidase
vacuolar protein sorting-associated protein 46-1
charged multivesicular body protein 1/chromatin modifying protein 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033005.1 

    Range
    5001..18355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083314.3NP_001076783.1  charged multivesicular body protein 1a isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate exon in the 5' coding region that results in a frameshift in subsequent regions of the CDS, compared to variant 2. The encoded isoform (1) shares the first two residues but is otherwise distinct and longer than isoform 2. Translation of this isoform is assumed due to use of the expected start codon, which has a strong Kozak signal.
    Source sequence(s)
    AI362697, BC007527, HY008690, HY089525
  2. NM_002768.4NP_002759.2  charged multivesicular body protein 1a isoform 2

    See proteins identical to NP_002759.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the functionally supported isoform (2).
    Source sequence(s)
    AI362697, BC007527, HY008690
    Consensus CDS
    CCDS45552.1
    UniProtKB/Swiss-Prot
    Q9HD42
    Related
    ENSP00000380998, OTTHUMP00000241410, ENST00000397901, OTTHUMT00000404581
    Conserved Domains (1) summary
    cl21588
    Location:3168
    Snf7; Snf7

RNA

  1. NR_046418.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' region, compared to variant 2. This variant is represented as non-coding because use of the supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI362697, BC007527, BX363674, HY008690

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    89644431..89657785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    91122139..91134975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    75406208..75419708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)