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

Gene ID: 26507, updated on 13-Mar-2020

Summary

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
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

Genomic context

See CNNM1 in Genome Data Viewer
Location:
10q24.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (99329099..99394330)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101088856..101154087)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene heparanase 2 (inactive) Neighboring gene ribosomal protein L7 pseudogene 36 Neighboring gene Sharpr-MPRA regulatory region 10329 Neighboring gene uncharacterized LOC107984261 Neighboring gene uncharacterized LOC101927300 Neighboring gene glutamic-oxaloacetic transaminase 1

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31632

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ion transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001345887.1NP_001332816.1  metal transporter CNNM1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK296545, AK308618, AL391684, DB067736
    UniProtKB/TrEMBL
    B4DKF7
    Conserved Domains (3) summary
    COG0517
    Location:429553
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:438553
    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:237414
    DUF21; Domain of unknown function DUF21
  2. NM_001345888.1NP_001332817.1  metal transporter CNNM1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK299346, AK308618, AL391684, DB067736
    UniProtKB/TrEMBL
    B7Z5S3
  3. NM_001345889.1NP_001332818.1  metal transporter CNNM1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL391684
    Conserved Domains (3) summary
    COG0517
    Location:429553
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:438553
    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:237414
    DUF21; Domain of unknown function DUF21
  4. NM_020348.3NP_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
    Q9NRU3
    Related
    ENSP00000349147.4, ENST00000356713.5
    Conserved Domains (3) summary
    COG0517
    Location:429553
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:438553
    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:237414
    DUF21; Domain of unknown function DUF21

RNA

  1. NR_144311.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL391684

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    99329099..99394330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539631.3XP_011537933.1  metal transporter CNNM1 isoform X1

    Conserved Domains (3) summary
    COG0517
    Location:429553
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:438553
    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:237414
    DUF21; Domain of unknown function DUF21

RNA

  1. XR_002956974.1 RNA Sequence

  2. XR_945667.2 RNA Sequence

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