CMAHP (cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8418
Gene name Gene Name - the full gene name approved by the HGNC.
Cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CMAHP
Synonyms (NCBI Gene) Gene synonyms aliases
CMAH, CSAH
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5A
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 19890979
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 19890979
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IDA 19890979
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603209 2098 ENSG00000293489
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y471
Protein name Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-NeuAc hydroxylase-like protein) (Cytidine monophosphate-N-acetylneuraminic acid hydroxylase pseudogene)
Protein function Sialic acids are components of carbohydrate chains of glycoconjugates and are involved in cell-cell recognition and cell-pathogen interactions. That protein has no CMP-N-acetylneuraminate monooxygenase activity and is not able to convert CMP-N-a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13483 Lactamase_B_3 34 → 177 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in thymus. Not expressed in brain. May be expressed in adult stem cells (at protein level) (PubMed:19890979). {ECO:0000269|PubMed:19890979, ECO:0000269|PubMed:9624188}.
Sequence 
MDENNGLLLLELNPPNPWDLQPRSPEELAFGEVQITYLTHACMDLKLGDKRMVFDPWLIG
PAFARGWWLLHEPPSDWLERLCQADLIYISHLHSDHLSYPTLKKLAGRRPDIPIYVGNTE
RPVFWNLNQSGVQLTNINVVPFGIWQQVDKNLRFMILMDGVHPEMDTCIIVEYKGHKILN
IVDCTRPNGGRLPMKVALMMSDFAGGASGFPMTFSGGKFTEEWKAQFIKTERKKLLNYKA
RLVKNLQPRIYCPFAGYFVESHPSDKYIKETNTKNDPNELNNLIKKNSDVITWTPRPGAT
LDLGRMLKDRTDSKGIIEPPEGTKIYKDSWDFEPYLEILNAALGDEIFLHSSWIKEYFTW
AGFKDYNLVVRMIETDEDFNPFPGGYDYLVDFLDLSFPKERPQREHPYEEIHSRVDVIRH
VVKNGLLWDELYIGFQTRLQRDPDIYHHLFWNHFQIKLPLTPPNWKSFLMCCEQNGPVIL
QFSTERTNEPNRNKFSVENKA
Sequence length 501
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dental caries Dental caries N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS