Seroatlas · Human Serome Atlas

CARNMT1

Carnosine N-methyltransferase

Also known as: C9orf41, CARME_HUMAN, FLJ25795

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N4J0
Gene: CARNMT1
Ensembl: ENSG00000156017
Chromosome: 9
Canonical length: 409 aa
Protein class: Enzymes, Predicted intracellular proteins
Quaternary structure: Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

409 residues, UniProt reviewed canonical sequence.

>Q8N4J0|CARNMT1
     1  MQRRRRPPPP TSRLPEGCGG GGGGSEEVEV QFSAGRWGSA AAVSAAAAAA TRSTEEEEER
    61  LEREHFWKII NAFRYYGTSM HERVNRTERQ FRSLPANQQK LLPQFLLHLD KIRKCIDHNQ
   121  EILLTIVNDC IHMFENKEYG EDGNGKIMPA STFDMDKLKS TLKQFVRDWS ETGKAERDAC
   181  YQPIIKEILK NFPKERWDPS KVNILVPGAG LGRLAWEIAM LGYACQGNEW SFFMLFSSNF
   241  VLNRCSEINK YKLYPWIHQF SNNRRSADQI RPIFFPDVDP HSLPPGSNFS MTAGDFQEIY
   301  SECNTWDCIA TCFFIDTAHN VIDYIDTIWK ILKPGGIWIN LGPLLYHFEN LANELSIELS
   361  YEDIKNVVLQ YGFKVEVEKE SVLSTYTVND LSMMKYYYEC VLFVVRKPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CARNMT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

liver: 16 nTPM
testis: 15 nTPM
thyroid gland: 13 nTPM
duodenum: 12 nTPM
small intestine: 12 nTPM
kidney: 11 nTPM

Single-cell type

early spermatids: 348 nCPM
late primary spermatocytes: 214 nCPM
sertoli cells: 145 nCPM
thyrotrophs: 113 nCPM
cone photoreceptor cells: 99 nCPM
lactotrophs: 99 nCPM

Immune cell

memory CD8 T-cell: 2 nTPM
T-reg: 2 nTPM
MAIT T-cell: 1.9 nTPM
memory B-cell: 1.7 nTPM
naive CD4 T-cell: 1.6 nTPM
naive CD8 T-cell: 1.5 nTPM

Brain region

cerebellum: 68 nTPM
basal ganglia: 45 nTPM
cerebral cortex: 29 nTPM
white matter: 24 nTPM
midbrain: 22 nTPM
hippocampal formation: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CARNMT1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 59 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.7
gnomAD pLI: 0
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

L-histidine catabolic process
methylation
carnosine metabolic process

Molecular functions

protein homodimerization activity
S-adenosylmethionine-dependent methyltransferase activity
carnosine N-methyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

S-adenosyl-L-methionine-dependent methyltransferase superfamily
Carnosine N-methyltransferase
Carnosine N-methyltransferase

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CARNMT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CARNMT1 as an antibody target. Whether an autoantibody or antibody against CARNMT1 could matter depends on whether native CARNMT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CARNMT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CARNMT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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