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    CALHM6 calcium homeostasis modulator family member 6 [ Homo sapiens (human) ]

    Gene ID: 441168, updated on 9-Dec-2024

    Summary

    Official Symbol
    CALHM6provided by HGNC
    Official Full Name
    calcium homeostasis modulator family member 6provided by HGNC
    Primary source
    HGNC:HGNC:33391
    See related
    Ensembl:ENSG00000188820 MIM:617305; AllianceGenome:HGNC:33391
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    INAM; FAM26F; C6orf187; dJ93H18.5
    Summary
    Predicted to enable monoatomic cation channel activity. Predicted to be involved in ATP export; monoatomic cation transmembrane transport; and regulation of natural killer cell cytokine production. Predicted to be located in immunological synapse. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in spleen (RPKM 28.1), appendix (RPKM 12.4) and 12 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CALHM6 in Genome Data Viewer
    Location:
    6q22.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (116461375..116463771)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (117645096..117647492)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (116782538..116784934)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CBX3 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17495 Neighboring gene keratin 18 pseudogene 22 Neighboring gene CALHM6 antisense RNA 1 Neighboring gene trafficking protein particle complex subunit 3L Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:116832513-116833094 Neighboring gene calcium homeostasis modulator family member 5 Neighboring gene MPRA-validated peak6051 silencer Neighboring gene calcium homeostasis modulator family member 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of family with sequence similarity 26, member F (FAM26F) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables monoatomic cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables voltage-gated channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in ATP export IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of natural killer cell cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in immunological synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    calcium homeostasis modulator protein 6
    Names
    IFN regulatory factor 3-dependent NK-activating molecule
    family with sequence similarity 26 member F
    protein FAM26F

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001010919.3NP_001010919.1  calcium homeostasis modulator protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001010919.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF086130, AV734646, BM704529, DN997293
      Consensus CDS
      CCDS34519.1
      UniProtKB/Swiss-Prot
      B9EJB0, Q5R3K3, Q5R3K4
      Related
      ENSP00000357594.1, ENST00000368605.3
      Conserved Domains (1) summary
      pfam14798
      Location:2246
      Ca_hom_mod; Calcium homeostasis modulator
    2. NM_001276460.2NP_001263389.1  calcium homeostasis modulator protein 6 isoform 2

      See identical proteins and their annotated locations for NP_001263389.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, which results in an alternate upstream start codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AF086130, AV734646
      Consensus CDS
      CCDS64506.1
      UniProtKB/TrEMBL
      Q5R3K2
      Related
      ENSP00000357595.3, ENST00000368606.7
      Conserved Domains (1) summary
      pfam14798
      Location:2074
      Ca_hom_mod; Calcium homeostasis modulator

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      116461375..116463771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535845.4XP_011534147.1  calcium homeostasis modulator protein 6 isoform X1

      Conserved Domains (1) summary
      pfam14798
      Location:4268
      Ca_hom_mod; Calcium homeostasis modulator

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      117645096..117647492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355513.1XP_054211488.1  calcium homeostasis modulator protein 6 isoform X1