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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 nameGene Name - the full gene name approved by the HGNC.
Cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CMAHP
SynonymsGene synonyms aliases
CMAH, CSAH
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.3
SummarySummary 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
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 19890979
GO:0005737 Component Cytoplasm IDA 19890979
GO:0005856 Component Cytoskeleton IDA 19890979
GO:0016020 Component Membrane IDA 19890979
GO:0030111 Process Regulation of Wnt signaling pathway IMP 19890979
Other IDsOther 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
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
Sequence 
MDENNGLLLLELNPPNPWDLQPRSPEELAFGEVQITYLTHACMDLKLGDKRMVFDPWLIG
PAFARGWWLLHEPPSDWLERLCQADLIYISHLHSDHLSYPTLKKLAGRRPDIPIYVGNTE
RPVFWNLNQSGVQLTNINVVPFGIWQQVDKNLRFMILMDGVHPEMDTCIIVEYKGHKILN
IVDCTRPNGGRLPMKVALMMSDFAGGASGFPMTFSGGKFTEEWKAQFIKTERKKLLNYKA
RLVKNLQPRIYCPFAGYFVESHPSDKYIKETNTKNDPNELNNLIKKNSDVITWTPRPGAT
LDLGRMLKDRTDSKGIIEPPEGTKIYKDSWDFEPYLEILNAALGDEIFLHSSWIKEYFTW
AGFKDYNLVVRMIETDEDFNPFPGGYDYLVDFLDLSFPKERPQREHPYEEIHSRVDVIRH
VVKNGLLWDELYIGFQTRLQRDPDIYHHLFWNHFQIKLPLTPPNWKSFLMCCEQNGPVIL
QFSTERTNEPNRNKFSVENKA
Sequence length 501
Interactions View interactions
Associated diseases
Gene Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 31374203, 26198764, 29121268, 28540026, 30285260
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 29121268
Coronary heart disease Coronary heart disease rs9289231, rs281864746 21971053
Development disorder Child Development Disorders, Pervasive 28540026
Stroke Cerebrovascular accident 22306652

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