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Aliases for CARNMT1 Gene

Aliases for CARNMT1 Gene

  • Carnosine N-Methyltransferase 1 2 3 5
  • C9orf41 3 4
  • Chromosome 9 Open Reading Frame 41 2
  • Carnosine N-Methyltransferase 3
  • UPF0586 Protein C9orf41 3
  • EC 2.1.1.22 4
  • UPF0586 3

External Ids for CARNMT1 Gene

Previous HGNC Symbols for CARNMT1 Gene

  • C9orf41

Summaries for CARNMT1 Gene

Entrez Gene Summary for CARNMT1 Gene

  • The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for CARNMT1 Gene

CARNMT1 (Carnosine N-Methyltransferase 1) is a Protein Coding gene. Among its related pathways are Histidine metabolism.

UniProtKB/Swiss-Prot for CARNMT1 Gene

  • N-methyltransferase that mediates the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L-histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARNMT1 Gene

Genomics for CARNMT1 Gene

Regulatory Elements for CARNMT1 Gene

Enhancers for CARNMT1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around CARNMT1 on UCSC Golden Path with GeneCards custom track

Promoters for CARNMT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CARNMT1 Gene

Chromosome:
9
Start:
74,981,020 bp from pter
End:
75,028,486 bp from pter
Size:
47,467 bases
Orientation:
Minus strand

Genomic View for CARNMT1 Gene

Genes around CARNMT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARNMT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARNMT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARNMT1 Gene

Proteins for CARNMT1 Gene

  • Protein details for CARNMT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4J0-CARME_HUMAN
    Recommended name:
    Carnosine N-methyltransferase
    Protein Accession:
    Q8N4J0
    Secondary Accessions:
    • Q7Z383
    • Q8N7C5

    Protein attributes for CARNMT1 Gene

    Size:
    409 amino acids
    Molecular mass:
    47186 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05369.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for CARNMT1 Gene

Post-translational modifications for CARNMT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CARNMT1 Gene

No data available for DME Specific Peptides for CARNMT1 Gene

Domains & Families for CARNMT1 Gene

Protein Domains for CARNMT1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CARNMT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N4J0

UniProtKB/Swiss-Prot:

CARME_HUMAN :
  • Belongs to the carnosine N-methyltransferase family.
Family:
  • Belongs to the carnosine N-methyltransferase family.
genes like me logo Genes that share domains with CARNMT1: view

No data available for Gene Families for CARNMT1 Gene

Function for CARNMT1 Gene

Molecular function for CARNMT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.959 mM for carnosine {ECO:0000269 PubMed:26001783}; KM=0.053 mM for S-adenosyl-L-methionine {ECO:0000269 PubMed:26001783}; Vmax=1.77 nmol/min/mg enzyme with carnosine as substrate {ECO:0000269 PubMed:26001783}; Note=kcat is 0.09 min(-1) for carnosine. kcat is 3.57 min(-1) for S-adenosyl-L-methionine. {ECO:0000269 PubMed:26001783}; pH dependence: Optimum pH is 7.0-7.5. {ECO:0000269 PubMed:26001783}; Temperature dependence: Optimum temperature is 50 degrees Celsius. {ECO:0000269 PubMed:26001783};
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + carnosine = S-adenosyl-L-homocysteine + anserine.
UniProtKB/Swiss-Prot Function:
N-methyltransferase that mediates the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L-histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His).

Enzyme Numbers (IUBMB) for CARNMT1 Gene

Gene Ontology (GO) - Molecular Function for CARNMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030735 carnosine N-methyltransferase activity IDA 26001783
genes like me logo Genes that share ontologies with CARNMT1: view
genes like me logo Genes that share phenotypes with CARNMT1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CARNMT1 Gene

Localization for CARNMT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARNMT1 Gene

Cytoplasm, cytosol. Nucleus.

Gene Ontology (GO) - Cellular Components for CARNMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 26001783
GO:0005829 cytosol IDA 26001783
genes like me logo Genes that share ontologies with CARNMT1: view

No data available for Subcellular locations from COMPARTMENTS for CARNMT1 Gene

Pathways & Interactions for CARNMT1 Gene

SuperPathways for CARNMT1 Gene

Superpath Contained pathways
1 Histidine metabolism
genes like me logo Genes that share pathways with CARNMT1: view

Pathways by source for CARNMT1 Gene

1 KEGG pathway for CARNMT1 Gene

Gene Ontology (GO) - Biological Process for CARNMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IEA --
GO:0035498 carnosine metabolic process IDA 26001783
genes like me logo Genes that share ontologies with CARNMT1: view

No data available for SIGNOR curated interactions for CARNMT1 Gene

Drugs & Compounds for CARNMT1 Gene

No Compound Related Data Available

Transcripts for CARNMT1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CARNMT1 Gene

No ASD Table

Relevant External Links for CARNMT1 Gene

GeneLoc Exon Structure for
CARNMT1
ECgene alternative splicing isoforms for
CARNMT1

Expression for CARNMT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CARNMT1 Gene:

CARNMT1

mRNA Expression by UniProt/SwissProt for CARNMT1 Gene:

Q8N4J0-CARME_HUMAN
Tissue specificity: Expressed at higher level in kidney. Expressed at lower level in brain and skeletal musclea.

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CARNMT1 Gene

Orthologs for CARNMT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CARNMT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C8H9orf41 34
  • 94.46 (n)
  • 95.84 (a)
C9orf41 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H9orf41 34
  • 95.49 (n)
  • 96.87 (a)
C9orf41 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2410127L17Rik 34
  • 92.21 (n)
  • 93.96 (a)
Carnmt1 16
2410127L17Rik 35
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf41 34
  • 99.92 (n)
  • 100 (a)
C9orf41 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1311863 34
  • 92.48 (n)
  • 93.96 (a)
oppossum
(Monodelphis domestica)
Mammalia C9orf41 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf41 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CZH9ORF41 34
  • 84.35 (n)
  • 91.59 (a)
CZH9ORF41 35
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C9orf41 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c9orf41 34
  • 75.48 (n)
  • 80.23 (a)
Str.7522 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5307 34
zebrafish
(Danio rerio)
Actinopterygii zgc:112985 34
  • 67.75 (n)
  • 72.46 (a)
C5H9orf41 35
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007115 34
  • 52.63 (n)
  • 45.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11596 34
  • 49.81 (n)
  • 45.64 (a)
CG11596 35
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y48E1C.2 34
  • 49.8 (n)
  • 43.71 (a)
Y48E1C.2 35
  • 40 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL085C 34
  • 43.66 (n)
  • 35.16 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13750g 34
  • 47.26 (n)
  • 34.15 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YNL092W 34
  • 46.12 (n)
  • 36.92 (a)
-- 35
  • 28 (a)
OneToOne
-- 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G32170 34
  • 54.55 (n)
  • 49.8 (a)
soybean
(Glycine max)
eudicotyledons Gma.12593 34
barley
(Hordeum vulgare)
Liliopsida Hv.3236 34
rice
(Oryza sativa)
Liliopsida Os.17049 34
Os05g0511300 34
  • 56.13 (n)
  • 50.2 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.11407 34
bread mold
(Neurospora crassa)
Ascomycetes NCU03692 34
  • 46.05 (n)
  • 39.47 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1778.07 34
  • 49.1 (n)
  • 42.22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
Species where no ortholog for CARNMT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CARNMT1 Gene

ENSEMBL:
Gene Tree for CARNMT1 (if available)
TreeFam:
Gene Tree for CARNMT1 (if available)

Paralogs for CARNMT1 Gene

No data available for Paralogs for CARNMT1 Gene

Variants for CARNMT1 Gene

Sequence variations from dbSNP and Humsavar for CARNMT1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs7857510 -- 75,010,795(+) AAGGT(A/G)GAGGc intron-variant
rs7864940 -- 75,030,175(+) aggca(A/G)tccac upstream-variant-2KB
rs7874466 -- 75,029,372(+) ggaag(A/G)cctag upstream-variant-2KB
rs9410747 -- 75,007,736(+) AAAAA(A/T)AAAAA intron-variant
rs9410748 -- 75,007,742(+) AAAAA(A/T)AATAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CARNMT1 Gene

Variant ID Type Subtype PubMed ID
esv3620712 CNV loss 21293372

Variation tolerance for CARNMT1 Gene

Residual Variation Intolerance Score: 16.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CARNMT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARNMT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARNMT1 Gene

Disorders for CARNMT1 Gene

Relevant External Links for CARNMT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARNMT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARNMT1

No disorders were found for CARNMT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CARNMT1 Gene

Publications for CARNMT1 Gene

  1. UPF0586 protein C9orf41 homolog is anserine-producing methyltransferase. (PMID: 26001783) Drozak J. … de Heer E. (J. Biol. Chem. 2015) 2 3 4 65
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 65

Products for CARNMT1 Gene

Sources for CARNMT1 Gene

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