CALHM1 Gene
protein-coding GIFtS: 45
GCID: GC10M105213
|
|
calcium homeostasis modulator 1(Previous names: family with sequence similarity 26, member C )
(Previous symbol: FAM26C)
| |
Aliases
for CALHM1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Calcium Homeostasis Modulator 11 2 | | FAM26C1 2 3 5 | | Family With Sequence Similarity 26, Member C1 2 | | Calcium Homeostasis Modulator Protein 12 | | Protein FAM26C3 |
Export aliases for CALHM1 gene to outside databasesPrevious GC identifers: GC10M105204 GC10M098843 |
Summaries
for CALHM1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CALHM1:
This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphismat this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in somepopulations, but the pathogenicity of this polymorphism is unclear.(provided by RefSeq, Mar 2010)
UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99Function: May be a pore-forming ion channel. Controls cytosolic Ca(2+) permeability and cytosolic Ca(2+) concentration.Controls amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+)dependent manner
|
Genomic Views
for CALHM1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CALHM1 gene promoter:
GR Pax-5 GR-beta HNF-4alpha2 NF-kappaB LCR-F1 HNF-4alpha1 YY1 HEN1 GR-alpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for CALHM1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CALHM1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q24.33 Ensembl cytogenetic band: 10q24.33 HGNC cytogenetic band: 10q24.33CALHM1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10M105213: view genomic region
(about GC identifiers)
Start:
|
105,213,144 bp from pter |
End:
|
105,218,648 bp from pter |
Size:
|
5,505 bases |
Orientation:
|
minus strand |
|
Proteins
for CALHM1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99 (See
protein sequence)Recommended Name: Calcium homeostasis modulator protein 1 Size: 346 amino acids; 38264 Da
Subunit: Homooligomer; homomultimerized to form dimeric and possibly tetrameric structures
Subcellular location: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membraneprotein. Note=Colocalizes with HSPA5 at the endoplasmic reticulum
Secondary accessions: Q5W091Explore the universe of human proteins at neXtProt for CALHM1: NX_Q8IU99
CALHM1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001001412.3
ENSEMBL proteins: ENSP00000329926
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005789 | endoplasmic reticulum membrane |
IEA | -- | | GO:0005886 | plasma membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
CALHM1 for ontologies About GeneDecksing
CALHM1 Antibody Products:
Assay Products for CALHM1: |
Protein
Domains /
Families
for CALHM1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q8IU99 UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99Similarity: Belongs to the FAM26 family |
Function
for CALHM1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99Function: May be a pore-forming ion channel. Controls cytosolic Ca(2+) permeability and cytosolic Ca(2+) concentration.Controls amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+)dependent manner
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CALHM1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CALHM1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CALHM1 (NM_001001412) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CALHM1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CALHM1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALHM1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
CALHM1 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Calhm1tm1Geno for CALHM1
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Calhm1):
CALHM1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CALHM1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CALHM1
1 Interacting protein for CALHM1 (Q8IU991) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for CALHM1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CALHM1
Search CenterWatch for drugs/clinical trials and news about CALHM1 / CAHM1
|
Transcripts
for CALHM1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CALHM1 gene: NM_001001412.3 Unigene Cluster for CALHM1: Calcium homeostasis modulator 1 Hs.680365 [show with all ESTs]Unigene Representative Sequence: BC0362081 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000329905(uc001kxe.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CALHM1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CALHM1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CALHM1 (NM_001001412) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CALHM1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CALHM1 |
Additional cDNA sequence: BC036193.1 BC036208.1 1 DOTS entry: DT.100010260 5 AceView cDNA sequences: BC036193 NM_001001412 BC036208 BI546543 BI546641
GeneLoc Exon Structure
|
Expression
for CALHM1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CALHM1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTCCATCCT
About this image
See CALHM1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CALHM1
SOURCE GeneReport for Unigene cluster: Hs.680365
UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99Tissue specificity: Predominantly expressed in adult brain. Detected also in retinoic acid-differentiated SH-SY5Y cells
SABiosciences Custom PCR Arrays for CALHM1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CALHM1
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat CALHM1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CALHM1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CALHM1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALHM1 |
Orthologs
for CALHM1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CALHM1 gene from 4/12 species (see all 12) About this table
ENSEMBL Gene Tree for CALHM1 (if available)
TreeFam Gene Tree for CALHM1 (if available) |
Paralogs
for CALHM1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CALHM1 gene
- FAM26D2 CALHM32 FAM26F2 CALHM22 FAM26E2
2 SIMAP similar genes for CALHM1 using alignment to 1 protein entry: CAHM1_HUMAN:CALHM3 CALHM2
CALHM1 for paralogs About GeneDecksing
|
Genomic Variants
for CALHM1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: CAHM1_HUMAN, Q8IU99Polymorphism: Leu-86 causes a dysregulation of Ca(2+) homeostasis and amyloid precursor protein (APP) metabolism.Leu-86 has been suggested to be a risk factor for the development of Alzheimer disease (PubMed:18585350), but thisassociation with Alzheimer disease could not be confirmed in an unrelated study (PubMed:19472444)
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CALHM1 (105213144 - 105218648 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CALHM1
1 CNV: 1231
Human Gene Mutation Database (HGMD): CALHM1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CALHM1 |
|
Disorders
/ Diseases
for CALHM1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CALHM1 for disorders About GeneDecksing
OMIM gene information: 612234
OMIM disorders: --
3  diseases for CALHM1: About MalaCardsalzheimer's disease temporal lobe epilepsy dementia
1 disease from the University of Copenhagen DISEASES database for CALHM1:Alzheimer's disease Human Genome Epidemiology (HuGE) Navigator: CALHM1 (16 documents)
Export disorders for CALHM1 gene to outside databases
|
Publications
for CALHM1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CALHM1 gene, integrated from 9 sources (see all 27):
(articles sorted by number of sources associating them with CALHM1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. (PubMed id 18585350)1, 2, 3 Dreses-Werringloer U....Marambaud P. (2008)
- CALHM1 polymorphism is not associated with late-onset Alzheimer disease. (PubMed id 19472444)1, 2 Beecham G.W....Pericak-Vance M.A. (2009)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
- CALHM1 P86L polymorphism modulates CSF Ab levels in co gnitively healthy individuals at risk for Alzheimer's disease. (PubMed id 21629967)1 Koppel J....Marambaud P. (2011)
- Calcium homoeostasis modulator 1 (CALHM1) reduces the calcium content of the endoplasmic reticulum (ER) and triggers ER stress. (PubMed id 21574960)1 Gallego-SandA-n S....GarcA-a-Sancho J. (2011)
- A polymorphism in CALHM1 is associated with temporal lobe epilepsy. (PubMed id 21439911)1 Lv R.J....Liu H. (2011)
- No association between CALHM1 polymorphism and Alzheim er's disease risk in a Hungarian population. (PubMed id 21378601)1 Feher A....Janka Z. (2011)
- The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study. (PubMed id 20847397)1 Lambert J.C....Amouyel P. (2010)
- Intermediate phenotypes identify divergent pathways t o Alzheimer's disease. (PubMed id 20574532)1 Shulman J.M....De Jager P.L. (2010)
|
External Searches for CALHM1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CALHM1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CALHM1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CALHM1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CALHM1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CALHM1 gene:
Search GeneIP for patents involving CALHM1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CALHM1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for CALHM1 | | OriGene shRNA RFP for CALHM1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CALHM1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CALHM1 | | | OriGene Protein Over-expression Lysate for CALHM1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CALHM1 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CALHM1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CALHM1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CALHM1 | | OriGene Custom Protein Services for CALHM1 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CALHM1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CALHM1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CALHM1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CALHM1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CALHM1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CALHM1 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for CALHM1 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | CALHM1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALHM1 |
|  |  |  | | | | ThermoFisher Antibodies for CALHM1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CALHM1 |
|
|
|
|
