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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 enc... See more...
Aliases for CHMP1A Gene
Aliases for CHMP1A Gene
- Charged Multivesicular Body Protein 1A 2 3 5
- CHMP1 2 3 4
- Vacuolar Protein Sorting-Associated Protein 46-1 3 4
- Procollagen (Type III) N-Endopeptidase 2 3
- Charged Multivesicular Body Protein 1a 3 4
- Chromatin Modifying Protein 1A 2 3
- KIAA0047 2 4
- PCOLN3 3 4
- PRSM1 3 4
- Charged Multivesicular Body Protein 1/Chromatin Modifying Protein 1 3
External Ids for CHMP1A Gene
- HGNC: 8740
- Entrez Gene: 5119
- Ensembl: ENSG00000131165
- OMIM: 164010
- UniProtKB: Q9HD42
Previous HGNC Symbols for CHMP1A Gene
- PRSM1
- PCOLN3
Previous GeneCards Identifiers for CHMP1A Gene
- GC16M088239
- GC16M089710
- GC16M075406
Summaries for CHMP1A Gene
-
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]
GeneCards Summary for CHMP1A Gene
CHMP1A (Charged Multivesicular Body Protein 1A) is a Protein Coding gene. Diseases associated with CHMP1A include Pontocerebellar Hypoplasia, Type 8 and Pontocerebellar Hypoplasia, Type 1A. Among its related pathways are Necroptosis and Endocytosis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and metallopeptidase activity. An important paralog of this gene is CHMP1B.
UniProtKB/Swiss-Prot Summary for CHMP1A Gene
-
Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing.
Additional gene information for CHMP1A Gene
- HGNC(8740)
- Entrez Gene(5119)
- Ensembl(ENSG00000131165)
- OMIM(164010)
- UniProtKB(Q9HD42)
- Open Targets Platform(ENSG00000131165)
- Monarch Initiative
- Search for CHMP1A at DataMed
- Search for CHMP1A at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHMP1A Gene
Genomics for CHMP1A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CHMP1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CHMP1A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHMP1A
- Top Transcription factor binding sites by QIAGEN in the CHMP1A gene promoter:
-
- AP-2gamma
- Arnt
- E2F
- E2F-1
- HNF-4alpha1
- Meis-1b
- MyoD
- SREBP-1a
- SREBP-1b
- SREBP-1c
Genomic Locations for CHMP1A Gene
Genomic Locations for CHMP1A Gene
- chr16:89,644,435-89,657,721
- (GRCh38/hg38)
- Size:
- 13,287 bases
- Orientation:
- Minus strand
- chr16:89,710,839-89,724,253
- (GRCh37/hg19)
- Size:
- 13,415 bases
- Orientation:
- Minus strand
Genomic View for CHMP1A Gene
Genes around CHMP1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q24.3 by HGNC
- 16q24.3 by Entrez Gene
- 16q24.3 by Ensembl
CHMP1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CHMP1A Gene
Proteins for CHMP1A Gene
-
Protein details for CHMP1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HD42-CHM1A_HUMAN
- Recommended name:
- Charged multivesicular body protein 1a
- Protein Accession:
- Q9HD42
- A2RU09
- Q14468
- Q15779
- Q96G31
Protein attributes for CHMP1A Gene
- Size:
- 196 amino acids
- Molecular mass:
- 21703 Da
- Quaternary structure:
-
- Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentially. Self-associates. Interacts with CHMP1B. Interacts with VPS4A. Interacts with VPS4B. Interacts with PHF1. Interacts with IST1. Interacts with MITD1.
- SequenceCaution:
-
- Sequence=AAC50775.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=BAA07557.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
Protein Expression for CHMP1A Gene
Post-translational modifications for CHMP1A Gene
Other Protein References for CHMP1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- HUABIO Anti-CHMP1A Antibody
-
Custom Antibody ServicesOriGene Antibodies for CHMP1A
- Novus Biologicals Antibodies for CHMP1A
-
Abcam antibodies for CHMP1A
- Invitrogen Antibodies for CHMP1A (AFLGC-CHMP1A)
-
Biorbyt antibodies for CHMP1A
-
Boster Bio Antibodies for CHMP1A
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Santa Cruz Biotechnology (SCBT) Antibodies for CHMP1A
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CHMP1A
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- ProSpec Recombinant Proteins for CHMP1A
- antibodies-online: Show 7 available CHMP1A Proteins ranked by validation data
- Compare Top CHMP1A Proteins
-
Quality Products:
-
Signalway Proteins for CHMP1A
-
Abcam proteins for CHMP1A
No data available for DME Specific Peptides for CHMP1A Gene
Domains & Families for CHMP1A Gene
Gene Families for CHMP1A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for CHMP1A Gene
Suggested Antigen Peptide Sequences for CHMP1A Gene
- GenScript: Design optimal peptide antigens:
-
- Vacuolar protein sorting-associated protein 46-1 (CHM1A_HUMAN)
- Procollagen (Type III) N-endopeptidase, isoform CRA_a (D3DX81_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9HD42- Family:
-
- Belongs to the SNF7 family.
Function for CHMP1A Gene
Molecular function for CHMP1A Gene
- UniProtKB/Swiss-Prot Function:
- Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing.
- UniProtKB/Swiss-Prot Induction:
- By muristerone.
Phenotypes From GWAS Catalog for CHMP1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 11559748 |
| GO:0008237 | metallopeptidase activity | TAS | 8863740 |
| GO:0008270 | zinc ion binding | TAS | 8863740 |
| GO:0019904 | protein domain specific binding | IPI | 17928862 |
| GO:0042802 | identical protein binding | IPI | 16730941 |
Phenotypes for CHMP1A Gene
- GenomeRNAi human phenotypes for CHMP1A:
-
- Decreased hepcidin::fluc mRNA expression
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased vaccinia virus (VACV) infection
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased NF-kappaB reporter expression
- Strongly decreased NFAT1-GFP nuclear translocation
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased viability after borna disease (rVSVΔG*/BDVG) virus infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CHMP1A - Select products 50% OFF >
- * CHMP1A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for CHMP1A - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for CHMP1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHMP1A
No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CHMP1A Gene
Localization for CHMP1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for CHMP1A Gene
- Cytoplasm. Endosome membrane. Peripheral membrane protein. Nucleus matrix. Note=The cytoplasmic form is partially membrane-associated and localizes to early endosomes. The nuclear form remains associated with the chromosome scaffold during mitosis. On overexpression, it localizes to nuclear bodies characterized by nuclease-resistant condensed chromatin.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| endosome | 5 |
| cytosol | 3 |
| lysosome | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000794 | condensed nuclear chromosome | IDA | 11559747 |
| GO:0000815 | ESCRT III complex | IEA,IBA | 21873635 |
| GO:0005623 | cell | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHMP1A Gene
Pathways & Interactions for CHMP1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Endocytosis | ||
| 2 | Necroptosis | ||
Pathways by source for CHMP1A Gene
2 KEGG pathways for CHMP1A Gene
Interacting Proteins for CHMP1A Gene
Selected Interacting proteins:
Q9HD42-CHM1A_HUMAN
ENSP00000380998
for CHMP1A Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CHMP1A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0006997 | nucleus organization | IMP | 20616062 |
| GO:0007034 | vacuolar transport | IEA | -- |
| GO:0007049 | cell cycle | IEA | -- |
| GO:0007076 | mitotic chromosome condensation | IEA,IDA | 11559747 |
No data available for SIGNOR curated interactions for CHMP1A Gene
Transcripts for CHMP1A Gene
mRNA/cDNA for CHMP1A Gene
- 2 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000397901 2342 nts (view in UCSC)
- ENST00000547687 2007 nts (view in UCSC)
- ENST00000535997 2295 nts (view in UCSC)
- ENST00000549139 812 nts (view in UCSC)
- ENST00000550102 803 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CHMP1A - Select products 50% OFF >
- * CHMP1A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CHMP1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHMP1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHMP1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHMP1A
- Browse OriGene Inhibitory RNA Products For CHMP1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHMP1A
Clone Products
- Applied Biological Materials (abm): Clones for CHMP1A - Select products 50% OFF >
- * CHMP1A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CHMP1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHMP1A
Relevant External Links for CHMP1A Gene
- GeneLoc Exon Structure for
- CHMP1A
Expression for CHMP1A Gene
This gene is overexpressed in Peripheral blood mononuclear cells (7.7) and Heart (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHMP1A Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHMP1A
SOURCE GeneReport for Unigene cluster for CHMP1A Gene:
Hs.589427mRNA Expression by UniProt/SwissProt for CHMP1A Gene:
Q9HD42-CHM1A_HUMAN
Tissue specificity:
Expressed in placenta, cultured skin fibroblasts and in osteoblast cell line MG-63.
Evidence on tissue expression from TISSUES for CHMP1A Gene
- Nervous system(4.5)
- Liver(4.4)
- Bone marrow(4.3)
- Intestine(3)
- Lung(2.8)
- Skin(2.7)
- Pancreas(2.5)
- Kidney(2.3)
- Blood(2.3)
- Eye(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CHMP1A Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- eyelid
- head
Thorax:
- chest wall
Abdomen:
- abdominal wall
Limb:
- foot
- lower limb
General:
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for CHMP1A
-
OriGene qPCR primer pairs and template standards for CHMP1A
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CHMP1A Gene
Orthologs for CHMP1A Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CHMP1A 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CHMP1A 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CHMP1A 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CHMP1A 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Chmp1a 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Chmp1a 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CHMP1A 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CHMP1A 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CHMP1A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chmp1a 30 |
|
||
| Str.8453 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.25584 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | chmp1a 30 31 |
|
OneToOne | |
| zgc65914 30 |
|
||||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DID2 31 |
|
OneToMany | |
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.8778 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.15489 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.5716 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.6651 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3436 30 |
|
- Species where no ortholog for CHMP1A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Worm (Caenorhabditis elegans)
Evolution for CHMP1A Gene
- ENSEMBL:
- Gene Tree for CHMP1A (if available)
- TreeFam:
- Gene Tree for CHMP1A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CHMP1A: view image
Paralogs for CHMP1A Gene
(3) SIMAP similar genes for CHMP1A Gene using alignment to 5 proteins:
- CHM1A_HUMAN
- A6NG32_HUMAN
- F5H875_HUMAN
- F8VUA2_HUMAN
- F8VVT7_HUMAN
Pseudogenes.org Pseudogenes for CHMP1A Gene
Variants for CHMP1A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHMP1A Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 668086 | Benign: not provided | 89,651,303(-) | G/A | INTRON_VARIANT | |
| 668087 | Benign: not provided | 89,647,648(-) | G/A | INTRON_VARIANT | |
| 668088 | Benign: not provided | 89,647,614(-) | T/C | INTRON_VARIANT | |
| 668887 | Benign: not provided | 89,649,814(-) | G/T | INTRON_VARIANT | |
| 673838 | Likely Benign: not provided | 89,647,603(-) | T/C | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5323n54 | CNV | loss | 21841781 |
| esv1520837 | CNV | insertion | 17803354 |
| esv26093 | CNV | gain+loss | 19812545 |
| esv2657571 | CNV | deletion | 23128226 |
| esv2665924 | CNV | deletion | 23128226 |
| esv2715189 | CNV | deletion | 23290073 |
| esv2715190 | CNV | deletion | 23290073 |
| esv2715191 | CNV | deletion | 23290073 |
| esv2715192 | CNV | deletion | 23290073 |
| esv2715193 | CNV | deletion | 23290073 |
| esv2715194 | CNV | deletion | 23290073 |
| esv2762221 | CNV | gain+loss | 21179565 |
| esv3553909 | CNV | deletion | 23714750 |
| esv992091 | CNV | deletion | 20482838 |
| nsv102951 | CNV | deletion | 16902084 |
| nsv1057351 | CNV | loss | 25217958 |
| nsv1063483 | CNV | gain | 25217958 |
| nsv1066382 | CNV | gain | 25217958 |
| nsv1070369 | CNV | deletion | 25765185 |
| nsv1071316 | CNV | deletion | 25765185 |
| nsv1151881 | CNV | deletion | 26484159 |
| nsv428331 | CNV | gain+loss | 18775914 |
| nsv482951 | CNV | loss | 15286789 |
| nsv509639 | CNV | insertion | 20534489 |
| nsv573739 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.46;
64.19% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CHMP1A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHMP1A Gene
Disorders for CHMP1A Gene
(5) MalaCards diseases for CHMP1A Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pontocerebellar hypoplasia, type 8 |
|
|
| pontocerebellar hypoplasia, type 1a |
|
|
| pontocerebellar hypoplasia |
|
|
| distichiasis |
|
|
| borna disease |
|
|
Search CHMP1A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CHM1A_HUMAN- Pontocerebellar hypoplasia 8 (PCH8) [MIM:614961]: An autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum. {ECO:0000269 PubMed:23023333}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CHMP1A
No data available for Genatlas for CHMP1A Gene
Publications for CHMP1A Gene
- CHMP1 is a novel nuclear matrix protein affecting chromatin structure and cell-cycle progression. (PMID: 11559747) Stauffer DR … Hollenberg SM (Journal of cell science 2001) 2 3 4 23
- Biochemical analyses of human IST1 and its function in cytokinesis. (PMID: 19129479) Bajorek M … Sundquist WI (Molecular biology of the cell 2009) 3 4 23
- CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. (PMID: 11559748) Howard TL … Hollenberg SM (Journal of cell science 2001) 2 3 4
- Molecular cloning, expression and chromosomal localization of a human gene encoding a 33 kDa putative metallopeptidase (PRSM1). (PMID: 8863740) Scott IC … Kadler KE (Gene 1996) 3 4 23
- CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. (PMID: 23023333) Mochida GH … Walsh CA (Nature genetics 2012) 3 4
ExternalLinks
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- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for CHMP1A
- Origene Custom Protein Services for CHMP1A
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHMP1A
- Browse OriGene Inhibitory RNA Products For CHMP1A
- OriGene qPCR primer pairs for CHMP1A
- OriGene qPCR primer pairs and template standards for CHMP1A
- OriGene CRISPR knockouts for CHMP1A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CHMP1A
- Sino Biological Human cDNA Clone for CHMP1A
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for CHMP1A
- Novus Biologicals proteins and lysates for CHMP1A
- Browse Antibodies
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- Abcam antibodies for CHMP1A
- Abcam proteins for CHMP1A
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- Browse Primary Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for CHMP1A (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CHMP1A (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CHMP1A (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CHMP1A CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CHMP1A
- antibodies-online: Show 12 available CHMP1A Antibodies ranked by validation data
- Compare Top CHMP1A Antibodies
- antibodies-online: Search results for available CHMP1A related products ranked by validation data
- antibodies-online: Show 7 available CHMP1A Proteins ranked by validation data
- Compare Top CHMP1A Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for CHMP1A
- Search Santa Cruz Biotechnology (SCBT) for CHMP1A siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CHMP1A
- Horizon Cell Lines for CHMP1A
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHMP1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHMP1A
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CHMP1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHMP1A
- Boster Bio Antibodies for CHMP1A
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for CHMP1A
- Signalway Proteins for CHMP1A
Sources for CHMP1A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB