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Aliases for CALHM1 Gene

Aliases for CALHM1 Gene

  • Calcium Homeostasis Modulator 1 2 3 5
  • Family With Sequence Similarity 26, Member C 2 3
  • FAM26C 3 4
  • Protein FAM26C 4

External Ids for CALHM1 Gene

Previous HGNC Symbols for CALHM1 Gene

  • FAM26C

Previous GeneCards Identifiers for CALHM1 Gene

  • GC10M105204
  • GC10M105213
  • GC10M098843

Summaries for CALHM1 Gene

Entrez Gene Summary 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 Sporadic Creutzfeldt-Jakob Disease and Alzheimer Disease. Among its related pathways are Taste transduction. GO annotations related to this gene include identical protein binding and voltage-gated ion channel activity. An important paralog of this gene is FAM26F.

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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CALHM1 Gene

Genomics for CALHM1 Gene

Regulatory Elements for CALHM1 Gene

Enhancers for CALHM1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CALHM1 on UCSC Golden Path with GeneCards custom track

Promoters for CALHM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CALHM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CALHM1 Gene

Chromosome:
10
Start:
103,453,387 bp from pter
End:
103,458,891 bp from pter
Size:
5,505 bases
Orientation:
Minus strand

Genomic View for CALHM1 Gene

Genes around CALHM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CALHM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CALHM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • Q5W091

    Protein attributes for CALHM1 Gene

    Size:
    346 amino acids
    Molecular mass:
    38264 Da
    Quaternary structure:
    • Homohexamer.

neXtProt entry for CALHM1 Gene

Proteomics data for CALHM1 Gene at MOPED

Post-translational modifications for CALHM1 Gene

  • Glycosylation at Asn 140
  • Modification sites at PhosphoSitePlus

Other Protein References for CALHM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CALHM1

No data available for DME Specific Peptides for CALHM1 Gene

Domains & Families for CALHM1 Gene

Protein Domains for CALHM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CALHM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IU99

UniProtKB/Swiss-Prot:

CAHM1_HUMAN :
  • Belongs to the FAM26 family.
Family:
  • Belongs to the FAM26 family.
genes like me logo Genes that share domains with CALHM1: view

No data available for Gene Families for CALHM1 Gene

Function for CALHM1 Gene

Molecular function for CALHM1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by Gd(3+), Ruthenium Red, and Zn(2+) and partially inhibited by 2-aminoethoxydiphenyl borate.
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.

Gene Ontology (GO) - Molecular Function for CALHM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA,IDA 22711817
GO:0042802 identical protein binding IPI 18585350
genes like me logo Genes that share ontologies with CALHM1: view
genes like me logo Genes that share phenotypes with CALHM1: view

Animal Models for CALHM1 Gene

MGI Knock Outs for CALHM1:

Animal Model Products

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CALHM1 Gene COMPARTMENTS Subcellular localization image for CALHM1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CALHM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 22711817
genes like me logo Genes that share ontologies with CALHM1: view

Pathways & Interactions for CALHM1 Gene

SuperPathways for CALHM1 Gene

Superpath Contained pathways
1 Taste transduction
genes like me logo Genes that share pathways with CALHM1: view

Pathways by source for CALHM1 Gene

1 KEGG pathway for CALHM1 Gene

Interacting Proteins for CALHM1 Gene

Selected Interacting proteins: Q8IU99-CAHM1_HUMAN for CALHM1 Gene via UniProtKB

Symbol External ID(s) Details
--

Gene Ontology (GO) - Biological Process for CALHM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015867 ATP transport IEA,ISS --
GO:0050909 sensory perception of taste IEA --
GO:0050913 sensory perception of bitter taste IEA,ISS --
GO:0050916 sensory perception of sweet taste IEA,ISS --
GO:0051260 protein homooligomerization IDA 23300080
genes like me logo Genes that share ontologies with CALHM1: view

No data available for SIGNOR curated interactions for CALHM1 Gene

Drugs & Compounds for CALHM1 Gene

No Compound Related Data Available

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 :

Unigene Clusters for CALHM1 Gene

Calcium homeostasis modulator 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CALHM1 Gene

No ASD Table

Relevant External Links for CALHM1 Gene

GeneLoc Exon Structure for
CALHM1
ECgene alternative splicing isoforms for
CALHM1

Expression for CALHM1 Gene

mRNA expression in normal human tissues 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).

SOURCE GeneReport for Unigene cluster for CALHM1 Gene Hs.680365

mRNA 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.
genes like me logo Genes that share expression patterns with CALHM1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CALHM1 Gene

Orthologs for CALHM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CALHM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CALHM1 35
  • 90.31 (n)
  • 93.31 (a)
CALHM1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CALHM1 35
  • 90.7 (n)
  • 94.77 (a)
CALHM1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Calhm1 35
  • 85.56 (n)
  • 93.02 (a)
Calhm1 16
Calhm1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CALHM1 35
  • 99.42 (n)
  • 99.71 (a)
CALHM1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Calhm1 35
  • 85.95 (n)
  • 92.44 (a)
oppossum
(Monodelphis domestica)
Mammalia CALHM1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CALHM1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CALHM1 35
  • 74.17 (n)
  • 72.37 (a)
CALHM1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CALHM1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia calhm1 35
  • 66.67 (n)
  • 68.67 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101887127 35
  • 64.59 (n)
  • 60 (a)
calhm1 36
  • 56 (a)
OneToMany
CALHM1 (1 of 2) 36
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea clhm-1 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 11 (a)
OneToMany
Species with no ortholog for CALHM1:
  • 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)

Paralogs for CALHM1 Gene

Paralogs for CALHM1 Gene

(2) SIMAP similar genes for CALHM1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CALHM1: view

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).

Sequence variations from dbSNP and Humsavar for CALHM1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs2986017 - 103,458,495(+) GGCCC(A/G)GCGGC reference, missense
rs2986016 -- 103,455,259(+) GCCAC(A/G)CCTCA utr-variant-3-prime
rs2986018 -- 103,458,602(+) TAGGC(C/T)GCATT reference, synonymous-codon
rs2986019 -- 103,460,072(+) gccct(C/G)ggtgg upstream-variant-2KB
rs729211 -- 103,455,175(-) GTTTC(A/G)GTGCT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CALHM1 Gene

Variant ID Type Subtype PubMed ID
nsv518987 CNV Loss 19592680
nsv524966 CNV Loss 19592680
nsv437692 CNV Loss 16327808

Variation tolerance for CALHM1 Gene

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)

Relevant External Links for CALHM1 Gene

Human Gene Mutation Database (HGMD)
CALHM1

Disorders for CALHM1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CALHM1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
sporadic creutzfeldt-jakob disease
  • sporadic cjd
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CALHM1

Genetic Association Database (GAD)
CALHM1
Human Genome Epidemiology (HuGE) Navigator
CALHM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CALHM1
genes like me logo Genes that share disorders with CALHM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CALHM1 Gene

Publications for CALHM1 Gene

  1. CALHM1 variant is not associated with Alzheimer's disease among Asians. (PMID: 19545933) Tan E.K. … Zhao Y. (Neurobiol. Aging 2011) 3 4 48 67
  2. A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. (PMID: 18585350) Dreses-Werringloer U. … Marambaud P. (Cell 2008) 2 3
  3. Lack of association between CALHM1 p.P86L variation and Alzheimer's disease in the Han Chinese population. (PMID: 24630757) Tao Q.Q. … Wu Z.Y. (Neurobiol. Aging 2014) 3
  4. Effect of the CALHM1 G330D and R154H human variants on the control of cytosolic Ca2+ and AI^ levels. (PMID: 25386646) Vingtdeux V. … Marambaud P. (PLoS ONE 2014) 3
  5. Structural and functional similarities of calcium homeostasis modulator 1 (CALHM1) ion channel with connexins, pannexins, and innexins. (PMID: 23300080) Siebert A.P. … Foskett J.K. (J. Biol. Chem. 2013) 3

Products for CALHM1 Gene

Sources for CALHM1 Gene

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