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Aliases for CNNM1 Gene

Aliases for CNNM1 Gene

  • Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 1 2 3 5
  • Ancient Conserved Domain-Containing Protein 1 3 4
  • Cyclin-M1 3 4
  • ACDP1 3 4
  • Metal Transporter CNNM1 3
  • Cyclin M1 2
  • CLP-1 3

External Ids for CNNM1 Gene

Previous HGNC Symbols for CNNM1 Gene

  • ACDP1

Previous GeneCards Identifiers for CNNM1 Gene

  • GC10P099983
  • GC10P100323
  • GC10P101221
  • GC10P100754
  • GC10P101080
  • GC10P094715

Summaries for CNNM1 Gene

Entrez Gene Summary for CNNM1 Gene

  • 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]

GeneCards Summary for CNNM1 Gene

CNNM1 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 1) is a Protein Coding gene. Diseases associated with CNNM1 include Urofacial Syndrome 1. GO annotations related to this gene include adenyl nucleotide binding. An important paralog of this gene is CNNM2.

UniProtKB/Swiss-Prot for CNNM1 Gene

  • Probable metal transporter.

Additional gene information for CNNM1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNNM1 Gene

Genomics for CNNM1 Gene

Regulatory Elements for CNNM1 Gene

Enhancers for CNNM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H099394 1.2 Ensembl ENCODE 10.6 +66.9 66850 2 FOXA2 ATF1 ARID4B FEZF1 FOS PAF1 SP5 NFYC PPARG KAT8 LOC101927300 GOT1 CNNM1 NKX2-3 PIR44588
GH10H099391 1 Ensembl ENCODE 10.6 +63.6 63626 2 CTCF SAP130 RB1 ZNF2 RAD21 TEAD3 SCRT2 SMC3 ZNF143 RUNX3 LOC101927300 GOT1 CNNM1 NKX2-3 PIR44588
GH10H099231 1 Ensembl ENCODE 8.3 -95.5 -95520 3 MXI1 SUZ12 MAX POLR2A EED ETV6 RUNX3 CREM EZH2 CBFB HPSE2 CNNM1 RPL7P36
GH10H099344 0.6 ENCODE 5.2 +16.6 16592 1 STAT1 CUX1 RCOR1 FOS WT1 SP7 HPSE2 CNNM1 PIR44588 GOT1
GH10H099115 0.5 ENCODE 5.4 -213.2 -213185 0 SOX6 E2F5 MAX USF2 ZNF354B EBAG9P1 LOXL4 PYROXD2 ENSG00000230928 HPSE2 CNNM1 RPL7P36
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNNM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CNNM1 Gene

Chromosome:
10
Start:
99,329,099 bp from pter
End:
99,394,330 bp from pter
Size:
65,232 bases
Orientation:
Plus strand

Genomic View for CNNM1 Gene

Genes around CNNM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNNM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNNM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNNM1 Gene

Proteins for CNNM1 Gene

  • Protein details for CNNM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRU3-CNNM1_HUMAN
    Recommended name:
    Metal transporter CNNM1
    Protein Accession:
    Q9NRU3
    Secondary Accessions:
    • Q4QQG7
    • Q4QQH8
    • Q4QQP9
    • Q9NT45

    Protein attributes for CNNM1 Gene

    Size:
    951 amino acids
    Molecular mass:
    104351 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Shares weak sequence similarity with the cyclin family, hence its name. However, it has no cyclin-like function in vivo.
    SequenceCaution:
    • Sequence=AAF86357.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH98103.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH98279.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH98307.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB70798.1; Type=Frameshift; Positions=839, 874; Evidence={ECO:0000305};

    Alternative splice isoforms for CNNM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNNM1 Gene

Post-translational modifications for CNNM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CNNM1 Gene

No data available for DME Specific Peptides for CNNM1 Gene

Domains & Families for CNNM1 Gene

Gene Families for CNNM1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CNNM1 Gene

Suggested Antigen Peptide Sequences for CNNM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NRU3

UniProtKB/Swiss-Prot:

CNNM1_HUMAN :
  • Belongs to the ACDP family.
Family:
  • Belongs to the ACDP family.
genes like me logo Genes that share domains with CNNM1: view

Function for CNNM1 Gene

Molecular function for CNNM1 Gene

UniProtKB/Swiss-Prot Function:
Probable metal transporter.

Phenotypes From GWAS Catalog for CNNM1 Gene

Gene Ontology (GO) - Molecular Function for CNNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28330616
genes like me logo Genes that share ontologies with CNNM1: view
genes like me logo Genes that share phenotypes with CNNM1: view

Animal Model Products

CRISPR Products

miRNA for CNNM1 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CNNM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNNM1 Gene

Localization for CNNM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNNM1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNNM1 gene
Compartment Confidence
plasma membrane 4
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with CNNM1: view

Pathways & Interactions for CNNM1 Gene

SuperPathways for CNNM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CNNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with CNNM1: view

No data available for Pathways by source and SIGNOR curated interactions for CNNM1 Gene

Drugs & Compounds for CNNM1 Gene

No Compound Related Data Available

Transcripts for CNNM1 Gene

Unigene Clusters for CNNM1 Gene

Cyclin M1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CNNM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CNNM1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4:
SP5:
SP6: -
SP7:

Relevant External Links for CNNM1 Gene

GeneLoc Exon Structure for
CNNM1
ECgene alternative splicing isoforms for
CNNM1

Expression for CNNM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CNNM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNNM1 Gene

This gene is overexpressed in Brain - Cortex (x4.6), Brain - Nucleus accumbens (basal ganglia) (x4.5), Brain - Frontal Cortex (BA9) (x4.4), and Brain - Putamen (basal ganglia) (x4.4).

Protein differential expression in normal tissues from HIPED for CNNM1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (30.3) and Adipocyte (28.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CNNM1 Gene



Protein tissue co-expression partners for CNNM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CNNM1 Gene:

CNNM1

SOURCE GeneReport for Unigene cluster for CNNM1 Gene:

Hs.274579

mRNA Expression by UniProt/SwissProt for CNNM1 Gene:

Q9NRU3-CNNM1_HUMAN
Tissue specificity: Restricted to brain and testis.

Evidence on tissue expression from TISSUES for CNNM1 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with CNNM1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CNNM1 Gene

Orthologs for CNNM1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CNNM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNNM1 33 34
  • 97.64 (n)
dog
(Canis familiaris)
Mammalia CNNM1 33 34
  • 91.55 (n)
cow
(Bos Taurus)
Mammalia CNNM1 33 34
  • 91.24 (n)
mouse
(Mus musculus)
Mammalia Cnnm1 33 16 34
  • 89.34 (n)
oppossum
(Monodelphis domestica)
Mammalia CNNM1 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNNM1 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNNM1 33 34
  • 78.13 (n)
lizard
(Anolis carolinensis)
Reptilia CNNM1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnnm1 33
  • 69.67 (n)
Str.13101 33
zebrafish
(Danio rerio)
Actinopterygii cnnm1 34
  • 70 (a)
OneToOne
LOC562504 33
  • 64.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta uex 34
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C52D10.12 35
  • 31 (a)
R13G10.4 34
  • 19 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAM3 34
  • 22 (a)
OneToMany
Species where no ortholog for CNNM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNNM1 Gene

ENSEMBL:
Gene Tree for CNNM1 (if available)
TreeFam:
Gene Tree for CNNM1 (if available)

Paralogs for CNNM1 Gene

Paralogs for CNNM1 Gene

(4) SIMAP similar genes for CNNM1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CNNM1: view

Variants for CNNM1 Gene

Sequence variations from dbSNP and Humsavar for CNNM1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs869025226 Uncertain significance 99,330,344(+) GAAGA(C/G)GGGAT nc-transcript-variant, reference, missense
rs1000066093 -- 99,359,937(+) AAAAC(-/A)AAAAA intron-variant
rs1000078270 -- 99,369,037(+) TACCT(A/G)TTTTC intron-variant
rs1000140994 -- 99,378,371(+) GTAGC(A/T)GTTGC intron-variant
rs1000146473 -- 99,360,131(+) GGTCC(A/C)ATCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNNM1 Gene

Variant ID Type Subtype PubMed ID
nsv1127137 CNV deletion 24896259
nsv1145479 CNV deletion 24896259

Variation tolerance for CNNM1 Gene

Residual Variation Intolerance Score: 26.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.31; 62.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNNM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNNM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNNM1 Gene

Disorders for CNNM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CNNM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
urofacial syndrome 1
  • urofacial syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CNNM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CNNM1

Genetic Association Database (GAD)
CNNM1
Human Genome Epidemiology (HuGE) Navigator
CNNM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNNM1
genes like me logo Genes that share disorders with CNNM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNNM1 Gene

Publications for CNNM1 Gene

  1. Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4. (PMID: 21393841) Gómez García I … Martínez-Cruz LA (Acta crystallographica. Section F, Structural biology and crystallization communications 2011) 2 3 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 4 60
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 45 60
  5. Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP). (PMID: 12657465) Wang CY … She JX (Gene 2003) 3 4 60

Products for CNNM1 Gene

Sources for CNNM1 Gene

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