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This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]
CALHM1 (Calcium Homeostasis Modulator 1) is a Protein Coding gene. Diseases associated with CALHM1 include Alzheimer Disease and Creutzfeldt-Jakob Disease. Among its related pathways are Taste transduction. Gene Ontology (GO) annotations related to this gene include identical protein binding and voltage-gated ion channel activity. An important paralog of this gene is CALHM3.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH10J103459 | Promoter/Enhancer | 1.2 | EPDnew Ensembl ENCODE | 600.7 | -0.1 | -51 | 0.3 | USF1 ZFHX2 EBF1 RFX5 MAZ BHLHE40 EGR2 | CALHM1 ENSG00000234699 CALHM3 | |
GH10J103458 | Promoter | 0.4 | Ensembl | 600.7 | +0.8 | 799 | 0.6 | GATAD2B | CALHM1 ENSG00000234699 CALHM2 | |
GH10J103460 | Promoter | 0.4 | Ensembl | 600.7 | -0.4 | -401 | 0.2 | MAZ | CALHM1 ENSG00000234699 CALHM3 | |
GH10J103490 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE dbSUPER | 11.9 | -33.8 | -33816 | 4.6 | SP1 CREB1 ZBTB33 PRDM10 ZNF629 RFX1 BACH1 JUND LARP7 PRDM1 | NEURL1 PCGF6 CALHM1 NEURL1-AS1 PDCD11 BORCS7 CALHM3 | |
GH10J103526 | Enhancer | 1 | Ensembl ENCODE | 10.3 | -68.7 | -68728 | 3.7 | ATF7 RFX1 JUND DDX20 ZNF311 SOX6 FOXJ2 CEBPA ZNF639 CEBPB | PCGF6 PDCD11 ENSG00000260461 NEURL1 ENSG00000234699 CALHM2 CALHM1 SH3PXD2A NEURL1-AS1 hsa-miR-5095-053 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005227 | calcium activated cation channel activity | IDA | 22711817 |
GO:0005244 | voltage-gated ion channel activity | IDA | 22711817 |
GO:0005245 | voltage-gated calcium channel activity | IEA | -- |
GO:0005261 | cation channel activity | IBA | 21873635 |
GO:0005262 | calcium channel activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005887 | integral component of plasma membrane | IBA,IDA | 22711817 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Taste transduction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006812 | cation transport | IDA | 22711817 |
GO:0006816 | calcium ion transport | IEA | -- |
GO:0015867 | ATP transport | IEA,ISS | -- |
GO:0034765 | regulation of ion transmembrane transport | IDA | 23300080 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CALHM1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CALHM1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CALHM1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Calhm1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Calhm1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CALHM1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CALHM1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CALHM1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CALHM1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | calhm1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC101887127 30 |
|
||
CALHM1 (1 of 2) 31 |
|
OneToMany | |||
calhm1 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | clhm-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
781217 | Benign: not provided | 103,458,295(-) | C/T | MISSENSE_VARIANT | |
rs371900329 | Likely Pathogenic: not provided | 103,458,291(-) | C/T | MISSENSE_VARIANT | |
rs2986017 | - | p.Leu86Pro |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv280e212 | CNV | gain | 25503493 |
dgv965n100 | CNV | gain | 25217958 |
dgv966n100 | CNV | gain | 25217958 |
esv3577694 | CNV | gain | 25503493 |
esv3624413 | CNV | gain | 21293372 |
esv3624414 | CNV | gain | 21293372 |
nsv437692 | CNV | loss | 16327808 |
nsv518987 | CNV | loss | 19592680 |
nsv524966 | CNV | loss | 19592680 |
nsv552060 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alzheimer disease |
|
|
creutzfeldt-jakob disease |
|
|