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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
  • Gene Overview
    MyGene.info: CMAHP
  • Alliance
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:24327404-24477289 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 10.34 cM, cytoband A3.2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    934 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 Chr13:24327404-24477377 (+)
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
    7
  • Human Ortholog
    CMAHP, cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
    Orthology source: HGNC
  • Synonyms
    CMAH, CSAH
  • Links
    NCBI Gene ID: 8418
    UniProt: Q9Y471

  • Chr Location
    6p22.3; chr6:25081067-25138392 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 1 allele in 1 genetic background
    23 phenotypes from multigenic genotypes
    37 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    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
    • EC
    • 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 61
      Developmental Gene Expression 1
      Gene Ontology 5
      Phenotypes 37
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:270013 Betts CA, et al., Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment. Hum Mol Genet. 2019 Feb 1;28(3):396-406

    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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    last database update
    11/26/2019
    MGI 6.14
    The Jackson Laboratory