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CARNS1

GENERAL INFORMATION

Gene name

 CARNS1

Gene description

 Carnosine synthase 1

Protein class

 Enzymes
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (cerebral cortex, skeletal muscle)
GTEx:Tissue enhanced (hippocampus)
FANTOM5:Tissue enhanced (brain, hippocampus)

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear expression in CNS.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA038569
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cerebral cortex, skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (hippocampus)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (brain, hippocampus)

GENE INFORMATION

Gene name

 CARNS1 (HGNC Symbol)

Synonyms

 ATPGD1, KIAA1394

Description

 Carnosine synthase 1 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 11

Cytoband

 q13.2

Chromosome location (bp)

 67414968 - 67425607

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000172508 (version 83.38)

Entrez gene

 57571

UniProt

 A5YM72 (UniProt - Evidence at protein level)

neXtProt

 NX_A5YM72

Antibodypedia

 CARNS1 antibodies

PROTEIN BROWSER
CARNS1-001
CARNS1-002
CARNS1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CARNS1-001
ENSP00000308268
ENST00000307823
A5YM72 [Direct mapping]
Carnosine synthase 1
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Enzymes
   ENZYME proteins
   Ligase
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005575 [cellular_component]
GO:0016887 [ATPase activity]
GO:0035499 [carnosine biosynthetic process]
GO:0046872 [metal ion binding]
GO:0047730 [carnosine synthase activity]
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 827 aa
88.5 kDa 		Yes 0
CARNS1-002
ENSP00000431670
ENST00000531040
A5YM72 [Direct mapping]
Carnosine synthase 1
Show all
Enzymes
   ENZYME proteins
   Ligase
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005575 [cellular_component]
GO:0016887 [ATPase activity]
GO:0035499 [carnosine biosynthetic process]
GO:0046872 [metal ion binding]
GO:0047730 [carnosine synthase activity]
Show all
 924 aa
98.7 kDa 		No 0
CARNS1-201
ENSP00000389009
ENST00000445895
A5YM72 [Direct mapping]
Carnosine synthase 1
Show all
Enzymes
   ENZYME proteins
   Ligase
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005575 [cellular_component]
GO:0016887 [ATPase activity]
GO:0035499 [carnosine biosynthetic process]
GO:0046872 [metal ion binding]
GO:0047730 [carnosine synthase activity]
Show all
 950 aa
101.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.