Aliases for CALHM1 Gene
Aliases for CALHM1 Gene
External Ids for CALHM1 Gene
- HGNC: 23494
- Entrez Gene: 255022
- Ensembl: ENSG00000185933
- OMIM: 612234
- UniProtKB: Q8IU99
Previous HGNC Symbols for CALHM1 Gene
- FAM26C
Previous GeneCards Identifiers for CALHM1 Gene
- GC10M105204
- GC10M105213
- GC10M098843
Summaries for CALHM1 Gene
-
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]
GeneCards Summary for CALHM1 Gene
CALHM1 (Calcium Homeostasis Modulator 1) is a Protein Coding gene. Diseases associated with CALHM1 include Alzheimer 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.
UniProtKB/Swiss-Prot for CALHM1 Gene
-
Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner.
Additional gene information for CALHM1 Gene
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CALHM1 Gene
Genomics for CALHM1 Gene
GeneHancer (GH) Regulatory Elements for CALHM1 Gene
Promoters and enhancers for CALHM1 Gene
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH10J103458 | Promoter/Enhancer | 1.2 | EPDnew Ensembl ENCODE | 650.7 | +0.2 | 171 | 1.8 | ZNF335 ZFHX2 USF1 EBF1 RFX5 EGR2 | CALHM1 AS3MT GSTO2 ENSG00000234699 | |
| GH10J103457 | Enhancer | 0.2 | Ensembl | 650.7 | +1.4 | 1390 | 0.2 | CALHM1 ENSG00000234699 | ||
| GH10J103490 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE dbSUPER | 11.9 | -33.5 | -33525 | 4 | PKNOX1 SIN3A ZNF2 GLIS2 ZNF207 ATF7 FOS RUNX3 SP3 YY2 | NEURL1 CALHM1 PCGF6 NEURL1-AS1 PDCD11 CALHM3 | |
| GH10J103526 | Enhancer | 1 | Ensembl ENCODE | 9.9 | -68.9 | -68913 | 3.3 | ZNF155 ZNF366 ATF7 FOS ZNF362 SP3 CAVIN1 CEBPB ZNF662 ZEB2 | PCGF6 PDCD11 ENSG00000260461 NEURL1 ENSG00000234699 CALHM2 SH3PXD2A CALHM1 NEURL1-AS1 ENSG00000226431 | |
| GH10J103714 | Enhancer | 1 | ENCODE dbSUPER | 6 | -257.5 | -257493 | 4.1 | ELF3 ZNF48 ZNF121 FOS RCOR1 EGR2 SMARCA5 SP5 ELF1 ZNF217 | SH3PXD2A NEURL1 NEURL1-AS1 CALHM1 GC10M103742 ENSG00000222503 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CALHM1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CALHM1 gene promoter:
Regulatory Element Products
Genomic Locations for CALHM1 Gene
Genomic Locations for CALHM1 Gene
- chr10:103,453,387-103,458,891
- (GRCh38/hg38)
- Size:
- 5,505 bases
- Orientation:
- Minus strand
- chr10:105,213,144-105,218,648
- (GRCh37/hg19)
Genomic View for CALHM1 Gene
Genes around CALHM1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q24.33 by Entrez Gene
- 10q24.33 by HGNC
- 10q24.33 by Ensembl
CALHM1 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 CALHM1 Gene
Proteins for CALHM1 Gene
-
Protein details for CALHM1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IU99-CAHM1_HUMAN
- Recommended name:
- Calcium homeostasis modulator protein 1
- Protein Accession:
- Q8IU99
- Q5W091
Protein attributes for CALHM1 Gene
- Size:
- 346 amino acids
- Molecular mass:
- 38264 Da
- Quaternary structure:
-
- Homohexamer.
Post-translational modifications for CALHM1 Gene
Other Protein References for CALHM1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
Boster Bio Antibodies for CALHM1
-
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Protein Products
-
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-
Quality Products:
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Assay Products
No data available for DME Specific Peptides for CALHM1 Gene
Domains & Families for CALHM1 Gene
Gene Families for CALHM1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
- Transporters
Suggested Antigen Peptide Sequences for CALHM1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8IU99- Family:
-
- Belongs to the CALHM family.
Function for CALHM1 Gene
Molecular function for CALHM1 Gene
- UniProtKB/Swiss-Prot Function:
- Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by Gd(3+), Ruthenium Red, and Zn(2+) and partially inhibited by 2-aminoethoxydiphenyl borate.
Phenotypes From GWAS Catalog for CALHM1 Gene
| 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:0005262 | calcium channel activity | IEA | -- |
| GO:0042802 | identical protein binding | IPI | 18585350 |
Phenotypes for CALHM1 Gene
- MGI mutant phenotypes for CALHM1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CALHM1:
Animal Models for CALHM1 Gene
Animal Model Products
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-
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-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CALHM1
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CALHM1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CALHM1 Gene
Localization for CALHM1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CALHM1 Gene
- Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Colocalizes with HSPA5 at the endoplasmic reticulum.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 4 |
| extracellular | 1 |
| golgi apparatus | 1 |
| 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 | IDA | 22711817 |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CALHM1 Gene
Pathways & Interactions for CALHM1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Taste transduction | ||
Pathways by source for CALHM1 Gene
1 KEGG pathway for CALHM1 Gene
Interacting Proteins for CALHM1 Gene
Selected Interacting proteins:
Q8IU99-CAHM1_HUMAN
ENSP00000329926
for CALHM1 Gene via
IID
UniProtKB
STRING
GPS-Prot Interaction Network for CALHM1
| 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 |
No data available for SIGNOR curated interactions for CALHM1 Gene
Transcripts for CALHM1 Gene
mRNA/cDNA for CALHM1 Gene
- (1) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (5) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000329905 3053 bps (uc001kxe.3)
Unigene Clusters for CALHM1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CALHM1
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CALHM1
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miRNA Products
Inhibitory RNA Products
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- Overview of 80 available CALHM1 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for CALHM1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CALHM1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CALHM1
- Applied Biological Materials Clones for CALHM1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CALHM1 Gene
mRNA differential expression in normal tissues according to GTEx for CALHM1 Gene
This gene is overexpressed in Brain - Cortex (x9.6), Brain - Frontal Cortex (BA9) (x8.4), and Brain - Anterior cingulate cortex (BA24) (x7.0).
NURSA nuclear receptor signaling pathways regulating expression of CALHM1 Gene:
CALHM1SOURCE GeneReport for Unigene cluster for CALHM1 Gene:
Hs.680365mRNA Expression by UniProt/SwissProt for CALHM1 Gene:
Q8IU99-CAHM1_HUMAN
Tissue specificity:
Predominantly expressed in adult brain. Detected also in retinoic acid-differentiated SH-SY5Y cells. Specifically expressed in circumvallate taste bud cells.
Evidence on tissue expression from TISSUES for CALHM1 Gene
- Nervous system(4.8)
Primer Products
-
OriGene qPCR primer pairs and template standards for CALHM1
-
OriGene qPCR primer pairs for CALHM1
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Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CALHM1 Gene
Orthologs for CALHM1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CALHM1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CALHM1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CALHM1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Calhm1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Calhm1 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CALHM1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CALHM1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CALHM1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CALHM1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | calhm1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC101887127 33 |
|
||
| CALHM1 (1 of 2) 34 |
|
OneToMany | |||
| calhm1 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | clhm-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for CALHM1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- 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 urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for CALHM1 Gene
- ENSEMBL:
- Gene Tree for CALHM1 (if available)
- TreeFam:
- Gene Tree for CALHM1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CALHM1: view image
Paralogs for CALHM1 Gene
Variants for CALHM1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for CALHM1 Gene
- CAHM1_HUMAN-Q8IU99
- Leu-86 causes a dysregulation of Ca(2+) homeostasis and amyloid precursor protein (APP) metabolism and has been suggested to be a risk factor for the development of Alzheimer disease (PubMed:18585350, PubMed:20061624, PubMed:20164592). However, this association with Alzheimer disease could not be confirmed in a number of studies performed in different populations (PubMed:19472444, PubMed:19070563, PubMed:19191331, PubMed:19191332, PubMed:19545933, PubMed:19655363, PubMed:21378601). According to a meta-analysis study, Leu-86 is likely not a genetic determinant of Alzheimer disease but may modulate age of onset by interacting with the effect of the APOE*4 allele of the APOE gene (PubMed:20847397).
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs371900329 | likely-pathogenic, not provided | 103,458,291(-) | C/T | coding_sequence_variant, missense_variant | |
| rs1001374955 | -- | 103,458,452(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs1001521433 | -- | 103,457,223(-) | T/C | intron_variant | |
| rs1002089128 | -- | 103,458,651(-) | A/C | coding_sequence_variant, missense_variant | |
| rs1002399695 | -- | 103,453,274(-) | C/G | downstream_transcript_variant |
| 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 |
Residual Variation Intolerance Score:
93.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.46;
54.95% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CALHM1 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for CALHM1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alzheimer disease |
|
|
Search CALHM1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CALHM1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for CALHM1 Gene
Publications for CALHM1 Gene
- CALHM1 variant is not associated with Alzheimer's disease among Asians. (PMID: 19545933) Tan EK … Zhao Y (Neurobiology of aging 2011) 3 4 44 58
- CALHM1 P86L polymorphism is a risk factor for Alzheimer's disease in the Chinese population. (PMID: 20061624) Cui PJ … Chen SD (Journal of Alzheimer's disease : JAD 2010) 3 4 44 58
- The P86L common allele of CALHM1 does not influence risk for Alzheimer disease in Japanese cohorts. (PMID: 19655363) Inoue K … Goto YI (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 4 44 58
- No association between CALHM1 variation and risk of Alzheimer disease. (PMID: 19191331) Minster RL … Kamboh MI (Human mutation 2009) 3 4 44 58
- No association between CALHM1 and risk for Alzheimer dementia in a Belgian population. (PMID: 19191332) Sleegers K … Van Broeckhoven C (Human mutation 2009) 3 4 44 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 39 available CALHM1 Antibodies ranked by validation data
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- GeneCopoeia miRNA 3'UTR Target clone products for CALHM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALHM1
- Boster Bio Antibodies for CALHM1
- Browse Boster Bio ELISA Kits
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