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CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 [ Homo sapiens (human) ]

Gene ID: 26507, updated on 14-Nov-2024

Summary

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Official Symbol
CNNM1provided by HGNC
Official Full Name
cyclin and CBS domain divalent metal cation transport mediator 1provided by HGNC
Primary source
HGNC:HGNC:102
See related
Ensembl:ENSG00000119946 MIM:607802; AllianceGenome:HGNC:102
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
ACDP1; CLP-1
Summary
This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Biased expression in testis (RPKM 7.0), brain (RPKM 4.2) and 7 other tissues See more
Orthologs
mouse all
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Genomic context

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See CNNM1 in Genome Data Viewer
Location:
10q24.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (99329356..99394330)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (100211235..100276251)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101089113..101154087)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene heparanase 2 (inactive) Neighboring gene ARL5A pseudogene 2 Neighboring gene ribosomal protein L7 pseudogene 36 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:100912726-100913321 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:100950388-100950888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100996186-100996686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100996687-100997187 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101025587-101026133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:101056861-101057360 Neighboring gene Sharpr-MPRA regulatory region 10329 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101117719-101118386 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101118387-101119053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3870 Neighboring gene GOT1 divergent transcript Neighboring gene glutamic-oxaloacetic transaminase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. SNHG7 Facilitates Hepatocellular Carcinoma Occurrence by Sequestering miR-9-5p to Upregulate CNNM1 Expression. Xie Y, et al. Cancer Biother Radiopharm, 2020 Dec. PMID 32397799
  2. Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP). Wang CY, et al. Gene, 2003 Mar 13. PMID 12657465
  3. Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4. Gómez García I, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2011 Mar 1. PMID 21393841, Free PMC Article
  4. Molecular cloning and characterization of the mouse Acdp gene family. Wang CY, et al. BMC Genomics, 2004 Jan 15. PMID 14723793, Free PMC Article
  5. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. Kenny EE, et al. PLoS Genet, 2012. PMID 22412388, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SNHG7 Facilitates Hepatocellular Carcinoma Occurrence by Sequestering miR-9-5p to Upregulate CNNM1 Expression.
    Title: SNHG7 Facilitates Hepatocellular Carcinoma Occurrence by Sequestering miR-9-5p to Upregulate CNNM1 Expression.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ31632

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in magnesium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
metal transporter CNNM1
Names
ancient conserved domain-containing protein 1
cyclin-M1

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.

Genomic

  1. NG_051577.1 RefSeqGene

    Range
    5258..70232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001345887.2 → NP_001332816.1  metal transporter CNNM1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK296545, AK308618, AL391684, DB067736
    Consensus CDS
    CCDS91317.1
    UniProtKB/TrEMBL
    A0A8Q3SIV9
    Related
    ENSP00000512809.1, ENST00000696687.1
    Conserved Domains (3) summary
    COG0517
    Location:429 → 553
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:438 → 553
    CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
    pfam01595
    Location:237 → 414
    DUF21; Domain of unknown function DUF21

  2. NM_001345888.2 → NP_001332817.1  metal transporter CNNM1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK299346, AK308618, AL391684, DB067736
    UniProtKB/TrEMBL
    B7Z5S3

  3. NM_001345889.2 → NP_001332818.1  metal transporter CNNM1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL391684
    Conserved Domains (3) summary
    COG0517
    Location:429 → 553
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:438 → 553
    CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
    pfam01595
    Location:237 → 414
    DUF21; Domain of unknown function DUF21

  4. NM_020348.3 → NP_065081.2  metal transporter CNNM1 isoform 1

    See identical proteins and their annotated locations for NP_065081.2

    Status: REVIEWED

    Source sequence(s)
    AF169226, AL391684, BC098103, BI868774, DA326933, DA758649, DB067736
    Consensus CDS
    CCDS7478.2
    UniProtKB/Swiss-Prot
    Q4QQG7, Q4QQH8, Q4QQP9, Q9NRU3, Q9NT45
    Related
    ENSP00000349147.4, ENST00000356713.5
    Conserved Domains (3) summary
    COG0517
    Location:429 → 553
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:438 → 553
    CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
    pfam01595
    Location:237 → 414
    DUF21; Domain of unknown function DUF21

RNA

  1. NR_144311.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL391684

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    99329356..99394330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539631.4 → XP_011537933.1  metal transporter CNNM1 isoform X1

    Conserved Domains (3) summary
    COG0517
    Location:429 → 553
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:438 → 553
    CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
    pfam01595
    Location:237 → 414
    DUF21; Domain of unknown function DUF21

  2. XM_047425047.1 → XP_047281003.1  metal transporter CNNM1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    100211235..100276251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365533.1 → XP_054221508.1  metal transporter CNNM1 isoform X1

  2. XM_054365534.1 → XP_054221509.1  metal transporter CNNM1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NRU3.3 GenPept UniProtKB/Swiss-Prot:Q9NRU3

Gene LinkOut

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