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

    Gene ID: 26507, updated on 27-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
    • 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

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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