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 (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc ... See more...

Aliases for CMAHP Gene

Aliases for CMAHP Gene

  • Cytidine Monophospho-N-Acetylneuraminic Acid Hydroxylase, Pseudogene 2 3 5
  • Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMP-N-Acetylneuraminate Monooxygenase)(Pseudogene) 2 3
  • CMAH 3 4
  • Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase Pseudogene 4
  • Inactive Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase 4
  • CMP-N-Acetylneuraminic Acid Hydroxylase 3
  • CMP-NeuAc Hydroxylase-Like Protein 4
  • CMP-Sialic Acid Hydroxylase 3
  • CMP-Neu5Ac Hydroxylase 3
  • CMP-NeuAc Hydroxylase 3
  • EC 1.14.18.2 51
  • CMAHP 5
  • CSAH 3

External Ids for CMAHP Gene

Previous HGNC Symbols for CMAHP Gene

  • CMAH

Summaries for CMAHP Gene

Entrez Gene Summary for CMAHP 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 (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008]

GeneCards Summary for CMAHP Gene

CMAHP (Cytidine Monophospho-N-Acetylneuraminic Acid Hydroxylase, Pseudogene) is a Pseudogene. Diseases associated with CMAHP include Charge Syndrome. Gene Ontology (GO) annotations related to this gene include 2 iron, 2 sulfur cluster binding and CMP-N-acetylneuraminate monooxygenase activity.

UniProtKB/Swiss-Prot Summary for CMAHP Gene

  • 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-acetylneuraminic acid (CMP-Neu5Ac) into its hydroxylated derivative CMP-N-glycolylneuraminic acid (CMP-Neu5Gc), a sialic acid abundantly expressed at the surface of many cells in vertebrates (PubMed:9624188). However, it may play a role in Wnt signaling (PubMed:19890979).

Gene Wiki entry for CMAHP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CMAHP Gene

Genomics for CMAHP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CMAHP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CMAHP on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for CMAHP Gene

Latest Assembly
chr6:25,061,626-25,452,263
(GRCh38/hg38)
Size:
390,638 bases
Orientation:
Minus strand

Previous Assembly
chr6:25,081,295-25,138,620
(GRCh37/hg19 by Entrez Gene)
Size:
57,326 bases
Orientation:
Minus strand

chr6:25,081,548-25,166,793
(GRCh37/hg19 by Ensembl)
Size:
85,246 bases
Orientation:
Minus strand

Genomic View for CMAHP Gene

Genes around CMAHP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CMAHP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CMAHP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CMAHP Gene

Proteins for CMAHP Gene

  • Protein details for CMAHP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y471-CMAH_HUMAN
    Recommended name:
    Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase
    Protein Accession:
    Q9Y471
    Secondary Accessions:
    • C1K3L2
    • O95250
    • Q5TD41
    • Q5TD42
    • Q5TD43
    • Q5TD44
    • Q68DC3
    • Q9UEE7

    Protein attributes for CMAHP Gene

    Size:
    501 amino acids
    Molecular mass:
    58380 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC68881.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for CMAHP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CMAHP Gene

Selected DME Specific Peptides for CMAHP Gene

Q9Y471:
  • KSRLRACKN
  • QTTEILLCLSPVEVA

Post-translational modifications for CMAHP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CMAHP Gene

Protein Domains for CMAHP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CMAHP Gene

GenScript: Design optimal peptide antigens:
  • Cytidine monophosphate-N-acetylneuraminic acid hydroxylase pseudogene (CMAH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y471

UniProtKB/Swiss-Prot:

CMAH_HUMAN :
  • Belongs to the CMP-Neu5Ac hydroxylase family.
Family:
  • Belongs to the CMP-Neu5Ac hydroxylase family.
genes like me logo Genes that share domains with CMAHP: view

No data available for Gene Families for CMAHP Gene

Function for CMAHP Gene

Molecular function for CMAHP Gene

UniProtKB/Swiss-Prot 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-acetylneuraminic acid (CMP-Neu5Ac) into its hydroxylated derivative CMP-N-glycolylneuraminic acid (CMP-Neu5Gc), a sialic acid abundantly expressed at the surface of many cells in vertebrates (PubMed:9624188). However, it may play a role in Wnt signaling (PubMed:19890979).

Enzyme Numbers (IUBMB) for CMAHP Gene

Phenotypes From GWAS Catalog for CMAHP Gene

Gene Ontology (GO) - Molecular Function for CMAHP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030338 NOT CMP-N-acetylneuraminate monooxygenase activity NAS 9751737
genes like me logo Genes that share ontologies with CMAHP: view

No data available for Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CMAHP Gene

Localization for CMAHP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CMAHP Gene

Cytoplasm. Note=May localize to membranes, nucleus and cytoskeleton. {ECO:0000269 PubMed:19890979}.

Gene Ontology (GO) - Cellular Components for CMAHP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19890979
GO:0005737 cytoplasm IDA 19890979
GO:0005856 cytoskeleton IDA 19890979
GO:0016020 membrane IDA 19890979
genes like me logo Genes that share ontologies with CMAHP: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for CMAHP Gene

Pathways & Interactions for CMAHP Gene

PathCards logo

SuperPathways for CMAHP Gene

No Data Available

Gene Ontology (GO) - Biological Process for CMAHP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030111 regulation of Wnt signaling pathway IMP 19890979
genes like me logo Genes that share ontologies with CMAHP: view

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for CMAHP Gene

Drugs & Compounds for CMAHP Gene

(2) Additional Compounds for CMAHP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CMAHP: view

Transcripts for CMAHP Gene

mRNA/cDNA for CMAHP Gene

12 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CMAHP Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: -
SP5: - - - - - - - - - -
SP6: -
SP7: - - - -
SP8: - - -
SP9: - - -
SP10: - -
SP11: - - -
SP12: - - - - -
SP13:
SP14: -
SP15: -

ExUns: 11e ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d
SP1: - - - -
SP2: - - -
SP3:
SP4: - - -
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for CMAHP Gene

GeneLoc Exon Structure for
CMAHP

Expression for CMAHP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CMAHP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CMAHP

SOURCE GeneReport for Unigene cluster for CMAHP Gene:

Hs.484918

mRNA Expression by UniProt/SwissProt for CMAHP Gene:

Q9Y471-CMAH_HUMAN
Tissue specificity: Widely expressed. Highly expressed in thymus. Not expressed in brain. May be expressed in adult stem cells (at protein level) (PubMed:19890979).
genes like me logo Genes that share expression patterns with CMAHP: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CMAHP Gene

Orthologs for CMAHP Gene

Evolution for CMAHP Gene

ENSEMBL:
Gene Tree for CMAHP (if available)
TreeFam:
Gene Tree for CMAHP (if available)

No data available for Orthologs for CMAHP Gene

Paralogs for CMAHP Gene

No data available for Paralogs for CMAHP Gene

Variants for CMAHP Gene

Structural Variations from Database of Genomic Variants (DGV) for CMAHP Gene

Variant ID Type Subtype PubMed ID
esv2731720 CNV deletion 23290073
esv3373496 CNV insertion 20981092
esv3379835 CNV insertion 20981092
esv3608377 CNV loss 21293372
nsv1025694 CNV gain 25217958
nsv349859 CNV insertion 16902084
nsv462662 CNV loss 19166990
nsv470806 CNV loss 18288195
nsv601166 CNV loss 21841781
nsv830610 CNV loss 17160897
nsv830611 CNV loss 17160897

Additional Variant Information for CMAHP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMAHP

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance and Variation tolerance for CMAHP Gene

Disorders for CMAHP Gene

MalaCards: The human disease database

(1) MalaCards diseases for CMAHP Gene - From: GCD

Disorder Aliases PubMed IDs
charge syndrome
  • charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
- elite association - COSMIC cancer census association via MalaCards
Search CMAHP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CMAHP

genes like me logo Genes that share disorders with CMAHP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CMAHP Gene

Publications for CMAHP Gene

  1. The molecular basis for the absence of N-glycolylneuraminic acid in humans. (PMID: 9624188) Irie A … Suzuki A (The Journal of biological chemistry 1998) 2 3 4 23
  2. Human CMP-N-acetylneuraminic acid hydroxylase is a novel stem cell marker linked to stem cell-specific mechanisms. (PMID: 19890979) Nystedt J … Laine J (Stem cells (Dayton, Ohio) 2010) 3 4 23
  3. Inactivation of CMP-N-acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution. (PMID: 12192086) Chou HH … Varki A (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 23
  4. Alu-mediated inactivation of the human CMP- N-acetylneuraminic acid hydroxylase gene. (PMID: 11562455) Hayakawa T … Takahata N (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 23
  5. A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence. (PMID: 9751737) Chou HH … Varki A (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 23

Products for CMAHP Gene

Sources for CMAHP Gene