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Aliases for CALHM1 Gene

Aliases for CALHM1 Gene

  • Calcium Homeostasis Modulator 1 2 3
  • FAM26C 3 4 6
  • Family With Sequence Similarity 26, Member C 2 3
  • Calcium Homeostasis Modulator Protein 1 3
  • 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 temporal lobe epilepsy and alzheimer disease. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CALHM1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn140
  • 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 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 :
  • Q8IU99
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:0005227 calcium activated cation channel activity IDA 22711817
GO:0005244 voltage-gated ion channel activity IDA 22711817
GO:0005262 calcium channel activity IEA --
GO:0042802 identical protein binding IPI 18585350
genes like me logo Genes that share ontologies with CALHM1: view

Phenotypes for CALHM1 Gene

MGI mutant phenotypes for CALHM1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with CALHM1: view

Animal Models for CALHM1 Gene

MGI Knock Outs for CALHM1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CALHM1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005887 integral component of plasma membrane IDA 22711817
genes like me logo Genes that share ontologies with CALHM1: view

Pathways for CALHM1 Gene

SuperPathways for CALHM1 Gene

No Data Available

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:0006812 cation transport IDA 22711817
GO:0015867 ATP transport ISS --
GO:0034765 regulation of ion transmembrane transport IDA 23300080
GO:0050913 sensory perception of bitter taste ISS --
GO:0050916 sensory perception of sweet taste ISS --
genes like me logo Genes that share ontologies with CALHM1: view

No data available for Pathways by source for CALHM1 Gene

Transcripts for CALHM1 Gene

mRNA/cDNA for CALHM1 Gene

(5) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CALHM1 Gene

Calcium homeostasis modulator 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CALHM1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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 (9.6), Brain - Frontal Cortex (BA9) (8.4), and Brain - Anterior cingulate cortex (BA24) (7.0).

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 expressions with CALHM1: view

In Situ 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 and 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

Selected 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

Q8IU99-CAHM1_HUMAN
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 MAF
rs729211 -- 103,455,175(-) GTTTC(A/G)GTGCT utr-variant-3-prime
rs2986016 -- 103,455,259(+) GCCAC(A/G)CCTCA utr-variant-3-prime
rs2986017 - 103,458,495(+) GGCCC(A/G)GCGGC missense, reference
rs2986018 -- 103,458,602(+) TAGGC(C/T)GCATT reference, synonymous-codon
rs2986019 -- 103,460,072(+) gccct(C/G)ggtgg upstream-variant-2KB

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

Relevant External Links for CALHM1 Gene

HapMap Linkage Disequilibrium report
CALHM1
Human Gene Mutation Database (HGMD)
CALHM1

Disorders for CALHM1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for CALHM1 Gene in MalaCards »

(2) Diseases for CALHM1 Gene including...

(1) OMIM Diseases for CALHM1 Gene (612234)

(1) University of Copenhagen DISEASES for CALHM1 Gene

Relevant External Links for CALHM1

Genetic Association Database (GAD)
CALHM1
Human Genome Epidemiology (HuGE) Navigator
CALHM1
genes like me logo Genes that share disorders with CALHM1: view

No data available for UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for CALHM1 Gene

Publications for CALHM1 Gene

  1. 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 4
  2. No association between CALHM1 variation and risk of Alzheimer disease. (PMID: 19191331) Minster R.L. … Kamboh M.I. (Hum. Mutat. 2009) 3 4 48
  3. No association between CALHM1 and risk for Alzheimer dementia in a Belgian population. (PMID: 19191332) Sleegers K. … Van Broeckhoven C. (Hum. Mutat. 2009) 3 4 48
  4. CALHM1 polymorphism is not associated with late-onset Alzheimer disease. (PMID: 19472444) Beecham G.W. … Pericak-Vance M.A. (Ann. Hum. Genet. 2009) 3 4 48
  5. CALHM1 variant is not associated with Alzheimer's disease among Asians. (PMID: 19545933) Tan E.K. … Zhao Y. (Neurobiol. Aging 2011) 3 4 48

Products for CALHM1 Gene

Sources for CALHM1 Gene

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