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Cmah Gene Detail
Summary
  • Symbol
    Cmah
  • Name
    cytidine monophospho-N-acetylneuraminic acid hydroxylase
  • Synonyms
    CMP-NeuAc hydroxylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:103227
    NCBI Gene: 12763
  • Alliance
    gene page
  • Transcription Start Sites
    22 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:24511387-24661272 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 10.34 cM, cytoband A3.2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3825 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103227
 protein coding gene Chr13:24511387-24661360 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020377
 protein coding gene Chr13:21841847-21941083 (+)
A/J MGP_AJ_G0020326
 protein coding gene Chr13:21437642-21534000 (+)
AKR/J MGP_AKRJ_G0020306
 protein coding gene Chr13:21693856-21787856 (+)
BALB/cJ MGP_BALBcJ_G0020324
 protein coding gene Chr13:21436814-21531289 (+)
C3H/HeJ MGP_C3HHeJ_G0020128
 protein coding gene Chr13:21764973-21860547 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020761
 protein coding gene Chr13:22627035-22728243 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018349
 protein coding gene Chr13:20199218-20292647 (+)
CAST/EiJ MGP_CASTEiJ_G0019645
 protein coding gene Chr13:21465395-21564415 (+)
CBA/J MGP_CBAJ_G0020082
 protein coding gene Chr13:23487713-23589995 (+)
DBA/2J MGP_DBA2J_G0020208
 protein coding gene Chr13:20954351-21047317 (+)
FVB/NJ MGP_FVBNJ_G0020192
 protein coding gene Chr13:20603625-20696509 (+)
LP/J MGP_LPJ_G0020281
 protein coding gene Chr13:22151832-22253310 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020219
 protein coding gene Chr13:23785841-23881708 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020803
 protein coding gene Chr13:21542728-21638554 (+)
PWK/PhJ MGP_PWKPhJ_G0019399
 protein coding gene Chr13:20993928-21085616 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019215
 protein coding gene Chr13:20367186-20458442 (+)
WSB/EiJ MGP_WSBEiJ_G0019705
 protein coding gene Chr13:21709842-21790034 (+)



Homology
more
  • Human Ortholog
    CMAHP, cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CMAHP, cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
  • Synonyms
    CMAH, CSAH
  • Links
    NCBI Gene ID: 8418
    UniProt: Q9Y471

  • Chr Location
    6p22.3; chr6:25081067-25138392 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 1 allele in 1 genetic background
    23 phenotypes from multigenic genotypes
    52 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.
Mice with homozygous mutation of Cmah show subtle incidence of lethality, with slightly abnormal B and T cell physiolgy, including cytokine production in response to stimulation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    8
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

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
    800
  • Tissues
    94
  • cDNA Data
    41
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12763 NCBI Gene Model | MGI Sequence Detail 149886 C57BL/6J ±  kb
    transcript NM_001284519 RefSeq | MGI Sequence Detail 9909 C57BL/6  
    polypeptide Q61419 UniProt | EBI | MGI Sequence Detail 577 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000006194 cytidine monophosphate-N-acetylneuraminic acid hydroxylase
      (term hierarchy)
    • EC
      1.14.18.2
    • InterPro Domains
      IPR027033 Cytidine monophosphate-N-acetylneuraminic acid hydroxylase
      IPR037339 Cytidine monophosphate-N-acetylneuraminic acid hydroxylase, Rieske domain
      IPR036866 Ribonuclease Z/Hydroxyacylglutathione hydrolase-like
      IPR017941 Rieske [2Fe-2S] iron-sulphur domain
      IPR036922 Rieske [2Fe-2S] iron-sulphur domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 42
      cDNA 42

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-24098
    References
    more
    • Summaries
      All 81
      Developmental Gene Expression 1
      Gene Ontology 8
      Phenotypes 52
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:349937 Lee GY, et al., Single missense mutations in Vi capsule synthesis genes confer hypervirulence to Salmonella Typhi. Nat Commun. 2024 Jun 19;15(1):5258
    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)
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    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