Property Summary

NCBI Gene PubMed Count 19
PubMed Score 50.16
PubTator Score 6.50

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
lung carcinoma 2844 1.4105221245231E-18
ovarian cancer 8492 3.77097027838934E-16
non-small cell lung cancer 2798 2.76123675935599E-14
psoriasis 6685 3.36110640596638E-8
lung cancer 4473 6.22030088113398E-7
interstitial cystitis 2299 1.14369554679841E-5
intraductal papillary-mucinous neoplasm (IPMN) 3289 4.75161925833277E-4
colon cancer 1475 8.31792846793677E-4
cystic fibrosis 1670 0.00164039315483286
nasopharyngeal carcinoma 1056 0.00505467330889109
osteosarcoma 7933 0.0152525426700318
active ulcerative colitis 477 0.0161958831207726
adrenocortical carcinoma 1427 0.018033266479775
Disease Target Count Z-score Confidence
Duchenne muscular dystrophy 602 3.186 1.6

Gene RIF (4)

PMID Text
24033743 GGTA1/CMAH knockout pig samples had increased relative amounts of high-mannose, incomplete, and xylosylated N-linked glycans
23709682 Metabolically reintroducing sialic acid to human T cells (which by mutation of CMAH occurring 2 million years ago lack natural sialic acid) blunts proliferation and activation.
20800603 Observational study of gene-disease association. (HuGE Navigator)
19890979 Data show that CMAH gene expression is significantly upregulated in the adult stem cell populations studied, both of hematopoietic and mesenchymal origin, and identify CMAH as a novel stem cell marker.

AA Sequence

MDENNGLLLLELNPPNPWDLQPRSPEELAFGEVQITYLTHACMDLKLGDKRMVFDPWLIGPAFARGWWLL      1 - 70
HEPPSDWLERLCQADLIYISHLHSDHLSYPTLKKLAGRRPDIPIYVGNTERPVFWNLNQSGVQLTNINVV     71 - 140
PFGIWQQVDKNLRFMILMDGVHPEMDTCIIVEYKGHKILNIVDCTRPNGGRLPMKVALMMSDFAGGASGF    141 - 210
PMTFSGGKFTEEWKAQFIKTERKKLLNYKARLVKNLQPRIYCPFAGYFVESHPSDKYIKETNTKNDPNEL    211 - 280
NNLIKKNSDVITWTPRPGATLDLGRMLKDRTDSKGIIEPPEGTKIYKDSWDFEPYLEILNAALGDEIFLH    281 - 350
SSWIKEYFTWAGFKDYNLVVRMIETDEDFNPFPGGYDYLVDFLDLSFPKERPQREHPYEEIHSRVDVIRH    351 - 420
VVKNGLLWDELYIGFQTRLQRDPDIYHHLFWNHFQIKLPLTPPNWKSFLMCCEQNGPVILQFSTERTNEP    421 - 490
NRNKFSVENKA                                                               491 - 501
//

Text Mined References (19)

PMID Year Title
24033743 N-linked glycan profiling of GGTA1/CMAH knockout pigs identifies new potential carbohydrate xenoantigens.
23709682 2013 Enhanced T cell function in a mouse model of human glycosylation.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
19890979 2010 Human CMP-N-acetylneuraminic acid hydroxylase is a novel stem cell marker linked to stem cell-specific mechanisms.
18085818 2007 Comparative genomics search for losses of long-established genes on the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16272417 2006 Fixation of the human-specific CMP-N-acetylneuraminic acid hydroxylase pseudogene and implications of haplotype diversity for human evolution.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12192086 2002 Inactivation of CMP-N-acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution.
11562455 2001 Alu-mediated inactivation of the human CMP- N-acetylneuraminic acid hydroxylase gene.
11522390 2001 N-glycolylneuraminic acid deficiency in humans.
11181995 2001 The sequence of the human genome.
9786333 1998 A structural difference between the cell surfaces of humans and the great apes.
9751737 1998 A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence.
9675135 1998 CMP-N-Acetylneuraminic acid hydroxylase is exclusively inactive in humans.
9624188 1998 The molecular basis for the absence of N-glycolylneuraminic acid in humans.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7608218 1995 Molecular cloning of cytidine monophospho-N-acetylneuraminic acid hydroxylase. Regulation of species- and tissue-specific expression of N-glycolylneuraminic acid.