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

Homo sapiens

Also known as ACDP1; CLP-1

Gene ID: 26507 | Gene type: protein coding

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	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

CBS

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CNNM1	Q9NRU3	PTP4A2	Homo sapiens	Q12974	Y2H Prey Pooling	32296183
Intra	CNNM1	Q9NRU3	PTP4A2	Homo sapiens	Q12974	Y2H Array	32296183
Intra	CNNM1	Q9NRU3	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	CNNM1	Q9NRU3	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02895	CNNM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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