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    CAMLG calcium modulating ligand [ Homo sapiens (human) ]

    Gene ID: 819, updated on 3-Nov-2024

    Summary

    Official Symbol
    CAMLGprovided by HGNC
    Official Full Name
    calcium modulating ligandprovided by HGNC
    Primary source
    HGNC:HGNC:1471
    See related
    Ensembl:ENSG00000164615 MIM:601118; AllianceGenome:HGNC:1471
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAML; GET2; CDG2Z
    Summary
    The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 22.3), ovary (RPKM 21.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CAMLG in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134738548..134752157)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135264175..135277785)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134074238..134087847)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene SEC24 homolog A, COPII coat complex component Neighboring gene RNA, U6 small nuclear 1164, pseudogene Neighboring gene RNA, U6 small nuclear 757, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr5:134064440-134064607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23162 Neighboring gene DEAD-box helicase 46 Neighboring gene ribosomal protein L34 pseudogene 13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:134181369-134182104 Neighboring gene chromosome 5 open reading frame 24

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Associated conditions

    Description Tests
    Congenital disorder of glycosylation, type IIz
    MedGen: C5774295 OMIM: 620201 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC163197

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of GET complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of GET complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of GET complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in membrane HDA PubMed 

    General protein information

    Preferred Names
    guided entry of tail-anchored proteins factor CAMLG
    Names
    calcium signal-modulating cyclophilin ligand
    calcium-modulating cyclophilin ligand
    cyclophilin B-binding protein

    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_001745.4NP_001736.1  guided entry of tail-anchored proteins factor CAMLG

      See identical proteins and their annotated locations for NP_001736.1

      Status: REVIEWED

      Source sequence(s)
      AC010301, BX111055, DA727548, U18242
      Consensus CDS
      CCDS4178.1
      UniProtKB/Swiss-Prot
      A1L3Y3, P49069
      UniProtKB/TrEMBL
      A0A7I2V518
      Related
      ENSP00000297156.2, ENST00000297156.4
      Conserved Domains (1) summary
      pfam14963
      Location:23292
      CAML; Calcium signal-modulating cyclophilin ligand

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      134738548..134752157
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417791.1XP_047273747.1  guided entry of tail-anchored proteins factor CAMLG isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      135264175..135277785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353588.1XP_054209563.1  guided entry of tail-anchored proteins factor CAMLG isoform X1