Property Summary

NCBI Gene PubMed Count 22
PubMed Score 19.80
PubTator Score 10.98

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
malignant mesothelioma 1.100 1.2e-05
oligodendroglioma -1.100 3.4e-02
osteosarcoma -2.542 2.5e-08
medulloblastoma, large-cell -1.200 1.7e-05
non-small cell lung cancer -1.015 1.0e-13
active Crohn's disease -1.595 2.7e-02
active ulcerative colitis -2.045 9.4e-03
Breast cancer -2.300 3.0e-02
sarcoidosis 1.300 3.8e-02
lung adenocarcinoma -1.100 1.2e-11
ductal carcinoma in situ -1.600 9.7e-04
invasive ductal carcinoma -2.000 4.6e-03

Gene RIF (3)

PMID Text
17065069 genetic and protein structural analysis of MOCS1 in molybdenum cofactor deficiency [case report]
15180982 MOCS1A is an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis
12754701 Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives

AA Sequence

MAARPLSRMLRRLLRSSARSCSSGAPVTQPCPGESARAASEEVSRRRQFLREHAAPFSAFLTDSFGRQHS      1 - 70
YLRISLTEKCNLRCQYCMPEEGVPLTPKANLLTTEEILTLARLFVKEGIDKIRLTGGEPLIRPDVVDIVA     71 - 140
QLQRLEGLRTIGVTTNGINLARLLPQLQKAGLSAINISLDTLVPAKFEFIVRRKGFHKVMEGIHKAIELG    141 - 210
YNPVKVNCVVMRGLNEDELLDFAALTEGLPLDVRFIEYMPFDGNKWNFKKMVSYKEMLDTVRQQWPELEK    211 - 280
VPEEESSTAKAFKIPGFQGQISFITSMSEHFCGTCNRLRITADGNLKVCLFGNSEVSLRDHLRAGASEQE    281 - 350
LLRIIGAAVGRKKRQHAGMFSISQMKNRPMILIELFLMFPNSPPANPSIFSWDPLHVQGLRPRMSFSSQV    351 - 420
ATLWKGCRVPQTPPLAQQRLGSGSFQRHYTSRADSDANSKCLSPGSWASAAPSGPQLTSEQLTHVDSEGR    421 - 490
AAMVDVGRKPDTERVAVASAVVLLGPVAFKLVQQNQLKKGDALVVAQLAGVQAAKVTSQLIPLCHHVALS    491 - 560
HIQVQLELDSTRHAVKIQASCRARGPTGVEMEALTSAAVAALTLYDMCKAVSRDIVLEEIKLISKTGGQR    561 - 630
GDFHRA                                                                    631 - 636
//

Text Mined References (24)

PMID Year Title
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
19793632 2010 Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19544009 2009 An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.
17065069 2006 A Turkish case with molybdenum cofactor deficiency.
16429380 2005 Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study.
16021469 2005 Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15180982 2004 Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12754701 2003 Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12208140 2002 The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons.
11891227 2002 Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis.
10917590 2000 Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames.
10327149 1999 Molybdenum cofactor deficiency: first prenatal genetic analysis.
10053004 1999 Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.
9921896 1998 Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
9812897 1998 Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity.
9731530 1998 Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.
9634514 1998 Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.