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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
  • 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 61
  • 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. GO annotations related to this gene include 2 iron, 2 sulfur cluster binding and CMP-N-acetylneuraminate monooxygenase activity.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMAHP Gene

Genomics for CMAHP Gene

Regulatory Elements for CMAHP Gene

Enhancers for CMAHP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F025135 1.3 FANTOM5 ENCODE 18.7 +29.0 29042 4.7 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 RAD21 YY1 ETV6 CREM SMAD5 CMAHP HIST1H3A C6orf62 NUP50P2 ENSG00000230372
GH06F025049 1.4 FANTOM5 Ensembl ENCODE 13.5 +112.9 112914 8.3 CTCF HDGF TBP ZNF146 WRNIP1 JUN BMI1 EBF1 ZNF2 RELA CMAHP C6orf62 ENSG00000223623 FAM65B
GH06F025165 1.6 FANTOM5 Ensembl ENCODE 11.1 -4.5 -4533 12.0 PKNOX1 ATF1 SIN3A FEZF1 ZNF2 GTF3C2 FOS JUNB TSHZ1 ZNF488 LOC100533655 CMAHP NUP50P2 C6orf62 GC06M025165 ENSG00000217805
GH06F025191 1.4 FANTOM5 Ensembl ENCODE 11.9 -26.8 -26774 3.7 KLF1 JUN RFX5 GATA3 CTBP1 ZNF366 FOSL2 FOS MAFK TCF7L2 LOC100533655 CMAHP RNY5P5 GC06P025221
GH06F025070 1 Ensembl ENCODE 14.6 +95.5 95526 1.0 ELF3 CTCF ARID4B RAD21 TEAD3 SLC30A9 ZNF143 ZNF207 SMC3 ETV6 CMAHP ENSG00000229313 FAM65B ENSG00000230372 NUP50P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CMAHP on UCSC Golden Path with GeneCards custom track

Promoters for CMAHP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001879325 755 401

Genomic Location for CMAHP Gene

Chromosome:
6
Start:
25,081,067 bp from pter
End:
25,166,555 bp from pter
Size:
85,489 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

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

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
GO:0051537 2 iron, 2 sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with CMAHP: view

Animal Model Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CMAHP gene
Compartment Confidence
cytoskeleton 5
nucleus 5
lysosome 1
golgi apparatus 1

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

Pathways & Interactions for CMAHP Gene

SuperPathways for CMAHP Gene

No Data Available

Interacting Proteins for CMAHP Gene

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 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

Unigene Clusters for CMAHP Gene

Cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene:
Representative Sequences:

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
ECgene alternative splicing isoforms for
CMAHP

Expression for CMAHP Gene

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

NURSA nuclear receptor signaling pathways regulating expression of CMAHP Gene:

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

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 and Protein tissue co-expression partners 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

Sequence variations from dbSNP and Humsavar for CMAHP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1002539 -- 25,091,112(+) ATACA(A/G)TAAGT intron-variant
rs1002540 -- 25,091,234(+) GCAAG(C/G)GGGGA intron-variant
rs1002596 -- 25,093,172(-) CCCTT(A/G)TCTGC intron-variant
rs1005671 -- 25,117,192(-) TTTCA(C/T)TTTAC intron-variant
rs1037167 -- 25,090,529(-) ATAAA(G/T)CTTTA intron-variant

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

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

Relevant External Links for CMAHP Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CMAHP Gene

Disorders for CMAHP Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
charge syndrome
  • charge association
- elite association - COSMIC cancer census association via MalaCards
Search CMAHP in MalaCards View complete list of genes associated with diseases

Relevant External Links for CMAHP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 1998) 2 3 4 22 64
  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 2010) 3 4 22 64
  3. Inactivation of CMP-N-acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution. (PMID: 12192086) Chou H.-H. … Varki A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 22 64
  4. Alu-mediated inactivation of the human CMP-N-acetylneuraminic acid hydroxylase gene. (PMID: 11562455) Hayakawa T. … Takahata N. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 22 64
  5. A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence. (PMID: 9751737) Chou H.-H. … Varki A. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 22 64

Products for CMAHP Gene

Sources for CMAHP Gene

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