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CARNMT1 carnosine N-methyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 138199, updated on 8-Jul-2021

Summary

Official Symbol
CARNMT1provided by HGNC
Official Full Name
carnosine N-methyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:23435
See related
Ensembl:ENSG00000156017 MIM:616552
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
C9orf41; UPF0586
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 5.8), testis (RPKM 4.9) and 25 other tissues See more
Orthologs
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Genomic context

See CARNMT1 in Genome Data Viewer
Location:
9q21.13
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (74980790..75028456, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (77595706..77643346, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene Neighboring gene CARNMT1 antisense RNA 1 Neighboring gene chromosome 9 open reading frame 40 Neighboring gene nicotinamide riboside kinase 1 Neighboring gene osteoclast stimulating factor 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25795

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in carnosine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in carnosine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in carnosine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in histidine catabolic process TAS
Traceable Author Statement
more info
 
involved_in methylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
carnosine N-methyltransferase
Names
UPF0586 protein C9orf41
NP_001307426.1
NP_689633.1
XP_005251758.2
XP_011516525.1
XP_016869758.1
XP_016869759.1
XP_016869760.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001320497.2NP_001307426.1  carnosine N-methyltransferase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL158825, BC034033, BM145242, DB040199
    UniProtKB/Swiss-Prot
    Q8N4J0
    Conserved Domains (1) summary
    pfam07942
    Location:65330
    N2227; N2227-like protein
  2. NM_152420.3NP_689633.1  carnosine N-methyltransferase isoform 1

    See identical proteins and their annotated locations for NP_689633.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL158825, BC034033, BM145242
    Consensus CDS
    CCDS6649.1
    UniProtKB/Swiss-Prot
    Q8N4J0
    Related
    ENSP00000366030.3, ENST00000376834.8
    Conserved Domains (1) summary
    pfam07942
    Location:144409
    N2227; N2227-like protein

RNA

  1. NR_135282.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK299691, AL158825, BC034033, BI560441, BM145242

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    74980790..75028456 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014270.2XP_016869759.1  carnosine N-methyltransferase isoform X4

    Conserved Domains (1) summary
    pfam07942
    Location:1262
    N2227; N2227-like protein
  2. XM_017014271.1XP_016869760.1  carnosine N-methyltransferase isoform X4

    Conserved Domains (1) summary
    pfam07942
    Location:1262
    N2227; N2227-like protein
  3. XM_017014269.2XP_016869758.1  carnosine N-methyltransferase isoform X2

    Conserved Domains (1) summary
    pfam07942
    Location:65330
    N2227; N2227-like protein
  4. XM_005251701.3XP_005251758.2  carnosine N-methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_005251758.2

    Conserved Domains (1) summary
    pfam07942
    Location:76341
    N2227; N2227-like protein
  5. XM_011518223.2XP_011516525.1  carnosine N-methyltransferase isoform X3

    Conserved Domains (1) summary
    cl17173
    Location:210263
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
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