Seroatlas · Human Serome Atlas

CARNS1

Carnosine synthase 1

Also known as: ATPGD1, CRNS1_HUMAN, KIAA1394

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

Protein identityUniProt · HPA

UniProt accession: A5YM72
Gene: CARNS1
Ensembl: ENSG00000172508
Chromosome: 11
Canonical length: 827 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Quaternary structure: Homotetramer

OverviewNCBI Gene

CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]

Canonical amino-acid sequenceUniProt

827 residues, UniProt reviewed canonical sequence.

>A5YM72|CARNS1
     1  MLLCLSPAWL MKVPAPGQPG EAALLVSKAV SFHPGGLTFL DDFVPPRRAT YFLAGLGLGP
    61  GRGREAAELA RDLTCPTGAS AELARLLEDR LLTRQLLAQQ GGVAVPATLA FTYKPPGLLR
   121  GGDASLGLRL VELSGKEGQE TLVKEEVEAF LRSEALGDIL QVAVKLSGWR WRGRQAWRLH
   181  PRAELGAVVD TVLALLEKLE EEESVLVEAV YPPAQLPCSD GPSPGPGLAV RICAVVCRTQ
   241  GDRPLLSKVV CGVGRGDRPL RHHNSLPRTL EVALAQCGLG EEAQVAAVRQ RVKAAAEAAL
   301  AAVLALEAGL SAEQRGGRRA HTDFLGVDFA LTAAGGVLTP VALELNGGLC LEACGALEGL
   361  WAAPRLGPAA DEAVAAPLVE TMLRRSARCL MEGKQLLVVG AGGVSKKFVW EAARDYGLQL
   421  HLVESDPNHF ASQLVQTFIH FDMTEHRRDE ENARLLAELV RARGLKLDGC FSYWDDCLVL
   481  TALLCQELGL PCSSPAAMRL AKQKSLTQLH LLHHHGPPWP APSLHAVPCC PLESEADVER
   541  AVHQVPLPGV MKLEFGAGAV GVRLVEDAPQ CHEHFSRITR DLQGEADHPG IGLGWGNAML
   601  LMEFVEGTEH DVDLVLFGGR LLAAFVSDNG PTRLPGFTET AACMPTGLAP EQEAQMVQAA
   661  FRCCLGCGLL DGVFNVELKL TGAGPRLIEI NPRMGGFYLR DWILELYGVD LLLAAVMVAC
   721  GLRPALPTRP RARGHLVGVM CLVSQHLQAL SSTASRETLQ ALHDRGLLRL NLLEEALVPG
   781  EYEEPYCSVA CAGPSPTEAR LRLLGLCQGL GIDGPSYPVA HFLSHFK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CARNS1 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): 0.24
Highest tissue expression: 166 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 166 nTPM
midbrain: 92 nTPM
skeletal muscle: 70 nTPM
hippocampal formation: 54 nTPM
basal ganglia: 34 nTPM
hypothalamus: 32 nTPM

Single-cell type

oligodendrocytes: 418 nCPM
mesothelial cells: 50 nCPM
myonuclei: 39 nCPM
epicardial cells: 32 nCPM
mucous neck cells: 14 nCPM
vascular smooth muscle cells: 13 nCPM

Immune cell

memory CD8 T-cell: 1 nTPM
naive CD8 T-cell: 1 nTPM
gdT-cell: 0.9 nTPM
naive B-cell: 0.6 nTPM
memory B-cell: 0.5 nTPM
NK-cell: 0.5 nTPM

Brain region

white matter: 529 nTPM
medulla oblongata: 321 nTPM
basal ganglia: 276 nTPM
midbrain: 253 nTPM
cerebellum: 233 nTPM
pons: 230 nTPM

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): 0.87
gnomAD pLI: 0
gnomAD missense Z: 1.03
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

L-histidine catabolic process
carnosine biosynthetic process

Molecular functions

ATP binding
ATP hydrolysis activity
metal ion binding
carnosine synthase activity
homocarnosine synthase activity

Cellular components

cytosol

Protein domainsUniProt · Pfam · InterPro

ATP-grasp fold
Carnosine synthase 1
BL00235/CARNS1, N-terminal
ATP-grasp in the biosynthetic pathway with Ter operon
ATP-grasp N-terminal domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CARNS1 as an antibody target. Whether an autoantibody or antibody against CARNS1 could matter depends on whether native CARNS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CARNS1 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 CARNS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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