ENSMUSG00000016756


Mus musculus

Features
Gene ID: ENSMUSG00000016756
  
Biological name :Cmah
  
Synonyms : Cmah / Cytidine monophosphate-N-acetylneuraminic acid hydroxylase / Q61419
  
Possible biological names infered from orthology :
  
Species: Mus musculus
  
Chr. number: 13
Strand: 1
Band: A3.1
Gene start: 24327404
Gene end: 24477377
  
Corresponding Affymetrix probe sets: 10404132 (MoGene1.0st)   1421214_at (Mouse Genome 430 2.0 Array)   1428043_a_at (Mouse Genome 430 2.0 Array)   1436039_at (Mouse Genome 430 2.0 Array)   1440458_at (Mouse Genome 430 2.0 Array)   1440517_x_at (Mouse Genome 430 2.0 Array)   1447019_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000153652
Ensembl peptide - ENSMUSP00000153248
Ensembl peptide - ENSMUSP00000153495
Ensembl peptide - ENSMUSP00000061045
Ensembl peptide - ENSMUSP00000106021
Ensembl peptide - ENSMUSP00000129007
NCBI entrez gene - 12763     See in Manteia.
MGI - MGI:103227
RefSeq - XM_011244274
RefSeq - NM_001111110
RefSeq - NM_001284519
RefSeq - NM_001284520
RefSeq - NM_007717
RefSeq - XM_011244265
RefSeq - XM_011244266
RefSeq Peptide - NP_001271449
RefSeq Peptide - NP_031743
RefSeq Peptide - NP_001104580
RefSeq Peptide - NP_001271448
swissprot - Q61419
swissprot - A0A286YDH3
Ensembl - ENSMUSG00000016756
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cmahENSDARG00000057714Danio rerio


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR017941  Rieske [2Fe-2S] iron-sulphur domain
 IPR027033  Cytidine monophosphate-N-acetylneuraminic acid hydroxylase
 IPR036866  Ribonuclease Z/Hydroxyacylglutathione hydrolase-like
 IPR036922  Rieske [2Fe-2S] iron-sulphur domain superfamily
 IPR037339  Cytidine monophosphate-N-acetylneuraminic acid hydroxylase, Rieske domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006054 N-acetylneuraminate metabolic process IEA
 biological_processGO:0046381 CMP-N-acetylneuraminate metabolic process IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0030338 CMP-N-acetylneuraminate monooxygenase activity IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051537 2 iron, 2 sulfur cluster binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000026 abnormal inner ear morphology "malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0000042 abnormal organ of Corti "abnormalities associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0000220 increased monocyte count "greater than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dmdmdx/Dmdmdx
Genetic Background: involves: 129X1/SvJ * C57BL/10ScSn

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dmdmdx/Dmdmdx
Genetic Background: involves: 129X1/SvJ * C57BL/10ScSn

 MP:0000752 dystrophic muscle "progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dmdmdx/Dmdmdx
Genetic Background: involves: 129X1/SvJ * C57BL/10ScSn

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dmdmdx/Dmdmdx
Genetic Background: involves: 129X1/SvJ * C57BL/10ScSn

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dmdmdx/Dmdmdx
Genetic Background: involves: 129X1/SvJ * C57BL/10ScSn

 MP:0001486 abnormal startle reflex "abberant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0001792 impaired wound healing "reduced ability or inability to self-repair and close wounds" [J:65302, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0001800 abnormal humoral immune response "abnormal immune function mediated by antibodies" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Sh3bp2tm1Rtpl/Sh3bp2tm1Rtpl
Genetic Background: B6.129P2-Sh3bp2tm1Rtpl

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dmdmdx/Dmdmdx
Genetic Background: involves: 129X1/SvJ * C57BL/10ScSn

 MP:0002428 abnormal semicircular canal "anomaly of the organ of balance composed of three long bony tubes of the labyrinth" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0002444 abnormal T cell physiology "anomalous response of T lymphocytes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

 MP:0002459 abnormal B cell physiology "abnormal function of B lymphocytes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

 MP:0002574 increased vertical activity "greater than average time spent jumping or rearing " [J:72576, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0002634 abnormal sensorimotor gating "malfunction of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI)" [J:42758, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0002895 abnormal otolithic membrane "malformations of the gelatinous membrane surmounting the acoustic maculae of the saccule and utricle and containing minute calciferous particles (otoliths)" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0003308 abnormal cochlear sensory epithelium 
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0005154 increased B cell proliferation "greater than the normal response by B cells to grow and divide in response to stimuli " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

 MP:0005425 increased macrophage count "greater than the normal numbers of macrophages" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:73418]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dmdmdx/Dmdmdx
Genetic Background: involves: 129X1/SvJ * C57BL/10ScSn

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0008174 decreased follicular B cell number "reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes" [CL:0000843, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd,Siaetm1.2Avrk/Siaetm1.2Avrk
Genetic Background: B6NHsd.Cg-Siaetm1.2Avrk Dock2m1Hsd Cmahtm1Avrk

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0008182 decreased marginal zone B cell number "reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL" [CL:0000845, ISBN:0781735149]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd,Siaetm1.2Avrk/Siaetm1.2Avrk
Genetic Background: B6NHsd.Cg-Siaetm1.2Avrk Dock2m1Hsd Cmahtm1Avrk

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0008217 abnormal B cell activation "any anomaly in the normal change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific" [GO:0002312, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd,Siaetm1.2Avrk/Siaetm1.2Avrk
Genetic Background: B6NHsd.Cg-Siaetm1.2Avrk Dock2m1Hsd Cmahtm1Avrk

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dock2m1Hsd/Dock2m1Hsd
Genetic Background: B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk

 MP:0008499 increased IgG1 level "greater than normal immunoglobulin class G1 level" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

 MP:0008567 decreased interferon-gamma secretion "reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation" [MESH:D12.644.276.374.440.893]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

 MP:0008568 abnormal interleukin secretion "anomaly in the production or cellular release of soluble factors which stimulate growth-related activities of leukocytes and other cell types, that can act to enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli" [MESH:D12.644.276.374.465]
Show

Allelic Composition: Cmahtm1Ykoz/Cmahtm1Ykoz
Genetic Background: B6.129P2-Cmahtm1Ykoz

 MP:0009419 skeletal muscle fibrosis "formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dmdmdx/Dmdmdx
Genetic Background: involves: 129X1/SvJ * C57BL/10ScSn

 MP:0010632 cardiac muscle necrosis "pathological death of cardiomyocytes or a portion of the cardiac muscle tissue; usually due to irreversible damage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cmahtm1Avrk/Cmahtm1Avrk,Dmdmdx/Dmdmdx
Genetic Background: involves: 129X1/SvJ * C57BL/10ScSn

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
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