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CAMLG calcium modulating ligand [ Homo sapiens (human) ]

Gene ID: 819, updated on 27-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
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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
  • 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)

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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