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Carns1 Gene Detail
Summary
  • Symbol
    Carns1
  • Name
    carnosine synthase 1
  • Synonyms
    Atpgd1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2147595
    NCBI Gene: 107239
  • Alliance
    gene page
Location &
Maps
more
  • Sequence Map
    Chr19:4214323-4225478 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 3.86 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    169 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2147595
 protein coding gene Chr19:4214323-4227390 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024653
 protein coding gene Chr19:1004774-1015929 (-)
A/J MGP_AJ_G0024619
 protein coding gene Chr19:965811-977261 (-)
AKR/J MGP_AKRJ_G0024592
 protein coding gene Chr19:990831-1001986 (-)
BALB/cJ MGP_BALBcJ_G0024619
 protein coding gene Chr19:955527-966682 (-)
C3H/HeJ MGP_C3HHeJ_G0024387
 protein coding gene Chr19:985905-997060 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025067
 protein coding gene Chr19:1042035-1053485 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022496
 protein coding gene Chr19:909354-920395 (-)
CAST/EiJ MGP_CASTEiJ_G0023859
 protein coding gene Chr19:999683-1010814 (-)
CBA/J MGP_CBAJ_G0024358
 protein coding gene Chr19:1099797-1110952 (-)
DBA/2J MGP_DBA2J_G0024486
 protein coding gene Chr19:925931-937086 (-)
FVB/NJ MGP_FVBNJ_G0024453
 protein coding gene Chr19:936064-947213 (-)
LP/J MGP_LPJ_G0024572
 protein coding gene Chr19:996153-1007308 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024483
 protein coding gene Chr19:1045924-1057079 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025114
 protein coding gene Chr19:988478-999911 (-)
PWK/PhJ MGP_PWKPhJ_G0023605
 protein coding gene Chr19:978314-989589 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023410
 protein coding gene Chr19:968386-981276 (-)
WSB/EiJ MGP_WSBEiJ_G0023921
 protein coding gene Chr19:975773-987222 (-)



Homology
more
  • Human Ortholog
    CARNS1, carnosine synthase 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CARNS1, carnosine synthase 1
  • Synonyms
    ATPGD1
  • Links
    NCBI Gene ID: 57571
    neXtProt AC: NX_A5YM72
    UniProt: A5YM72

  • Chr Location
    11q13.2; chr11:67414968-67425607 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous knockout results in age-related decline in the number of olfactory receptor neurons and detection sensitivity for certain odors.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    878
  • Tissues
    107
  • cDNA Data
    15
  • Literature Summary
    2
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000075289 Ensembl Gene Model | MGI Sequence Detail 11156 C57BL/6J ±  kb
transcript ENSMUST00000167055 Ensembl | MGI Sequence Detail 3968 Not Applicable  
polypeptide ENSMUSP00000131624 Ensembl | MGI Sequence Detail 947 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 15

    Microarray probesets 3
References
more
  • Summaries
    All 36
    Developmental Gene Expression 2
    Gene Ontology 6
    Phenotypes 10
  • Earliest
    J:122989 Visel A, et al., GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Nucleic Acids Res. 2004 Jan 1;32(Database issue):D552-6
  • Latest
    J:339123 Sakano T, et al., Pharmacokinetics and tissue distribution of orally administrated imidazole dipeptides in carnosine synthase gene knockout mice. Biosci Biotechnol Biochem. 2022 Aug 24;86(9):1276-1285
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory