CNNM1 - cyclin and CBS domain divalent metal cation transport mediator 1 Gene

Also Known as ACDP1; CLP-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26507

About CNNM1

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:99,329,356-99,394,330 (from NCBI)

This gene has 3 transcripts (splice variants), 262 orthologues and 3 paralogues. Biased expression in testis (RPKM 7.0), brain (RPKM 4.2) and 7 other tissues.

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]

CNNM1 Products (4)

mRNA Protein Name
NM_001345887.2 NP_001332816.1 metal transporter CNNM1 isoform 2
NM_001345888.2 NP_001332817.1 metal transporter CNNM1 isoform 3
NM_001345889.2 NP_001332818.1 metal transporter CNNM1 isoform 4
NM_020348.3 NP_065081.2 metal transporter CNNM1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
27880917 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CNNM1 Protein Structure

DUF21

DUF21: Domain of unknown function DUF21 (226 - 405)

CBS

CBS: CBS domain (500 - 560)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 951 a.a.
Protein Preferred Names Protein Names

metal transporter CNNM1

  • ancient conserved domain-containing protein 1

CNNM1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CNNM1 Q9NRU3 PTP4A2 Homo sapiens Q12974 32296183
Intra
CNNM1 Q9NRU3 PTP4A2 Homo sapiens Q12974 32296183
Intra
CNNM1 Q9NRU3 HSF2BP Homo sapiens O75031 32296183
Intra
CNNM1 Q9NRU3 HSF2BP Homo sapiens O75031 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Jalili Syndrome
  • Cone-Rod Dystrophy And Amelogenesis Imperfecta

  • Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome

  • Cone-Rod Dystrophy Amelogenesis Imperfecta

  • Cone-Rod Dystrophy With Amelogenesis Imperfecta

  • JALIS

  • Cone Rod Dystrophy Amelogenesis Imperfecta

Urofacial Syndrome 1
  • Urofacial Syndrome

  • Ochoa Syndrome

  • Hydronephrosis With Peculiar Facial Expression

  • Ufs

  • Inverted Smile And Occult Neuropathic Bladder

  • Partial Facial Palsy With Urinary Abnormalities

  • UFS1

  • Urofacial Ochoa'S Syndrome

  • Urofacial Syndrome Type 1

  • Facial Palsy, Partial, With Urinary Abnormalities

  • Hydronephrosis-Inverted Smile

  • Inverted Smile-Neurogenic Bladder

  • Hydronephrosis-Inverted Smile Syndrome

  • Inverted Smile-Neurogenic Bladder Syndrome

  • Partial Facial Palsy Partial With Urinary Abnormalities

  • Urologic Diseases

Primary Hypomagnesemia
  • Familial Primary Hypomagnesemia

  • Homg

  • Primary Familial Hypomagnesemia

  • Genetic Primary Hypomagnesemia

  • Hypomagnesemia 1, Intestinal

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CNNM1 MGD MGI:1891366
Macaca mulatta CNNM1 VGNC VGNC:103799
Felis catus CNNM1 VGNC VGNC:61023
Rattus norvegicus CNNM1 RGD RGD:1308728
Bos taurus CNNM1 VGNC VGNC:27510
Canis familiaris CNNM1 VGNC VGNC:39406
Others CNNM1 NCBI