From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Molybdenum cofactor biosynthesis protein 1 is a
protein that in humans and other animals, fungi, and cellular slime molds, is encoded by the MOCS1
gene .
[5]
[6]
[7]
[8]
Both copies of this gene are defective in patients with
molybdenum cofactor deficiency , type A.
[8]
Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in
molybdopterin biosynthesis. (This gene was originally thought to produce a
bicistronic mRNA with the potential to produce two proteins (
MOCS1A and MOCS1B) from adjacent
open reading frames . However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA.) Two of the splice variants found for this gene express proteins (MOCS1A-MOCS1B) that result from a fusion between the two open reading frames.
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000124615 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000064120 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"MOCS1 - Gene - NCBI" . www.ncbi.nlm.nih.gov . Retrieved 19 July 2018 .
^ Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T (Oct 1998). "Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency". Nat Genet . 20 (1): 51–3.
doi :
10.1038/1706 .
PMID
9731530 .
S2CID
23833158 .
^ Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT (Apr 1999).
"Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B" . Am J Hum Genet . 64 (3): 706–11.
doi :
10.1086/302296 .
PMC
1377787 .
PMID
10053004 .
^
a
b
"Entrez Gene: MOCS1 molybdenum cofactor synthesis 1" .
Further reading
Reiss J, Johnson JL (2003).
"Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH" . Hum. Mutat . 21 (6): 569–76.
doi :
10.1002/humu.10223 .
PMID
12754701 .
S2CID
41013043 .
Shalata A, Mandel H, Reiss J, et al. (1998).
"Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping" . Am. J. Hum. Genet . 63 (1): 148–54.
doi :
10.1086/301916 .
PMC
1377237 .
PMID
9634514 .
Feng G, Tintrup H, Kirsch J, et al. (1998). "Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity". Science . 282 (5392): 1321–4.
Bibcode :
1998Sci...282.1321F .
doi :
10.1126/science.282.5392.1321 .
PMID
9812897 .
Reiss J, Christensen E, Kurlemann G, et al. (1999). "Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.". Hum. Genet . 103 (6): 639–44.
doi :
10.1007/s004390050884 .
PMID
9921896 .
S2CID
5247017 .
Reiss J, Christensen E, Dorche C (1999). "Molybdenum cofactor deficiency: first prenatal genetic analysis". Prenat. Diagn . 19 (4): 386–8.
doi :
10.1002/(SICI)1097-0223(199904)19:4<386::AID-PD550>3.0.CO;2-# .
PMID
10327149 .
S2CID
196592216 .
Gray TA, Nicholls RD (2000).
"Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames" . RNA . 6 (7): 928–36.
doi :
10.1017/S1355838200000182 .
PMC
1369970 .
PMID
10917590 .
Hänzelmann P, Schwarz G, Mendel RR (2002).
"Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis" . J. Biol. Chem . 277 (21): 18303–12.
doi :
10.1074/jbc.M200947200 .
PMID
11891227 .
Gross-Hardt S, Reiss J (2003). "The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons". Mol. Genet. Metab . 76 (4): 340–3.
doi :
10.1016/S1096-7192(02)00100-2 .
PMID
12208140 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Mungall AJ, Palmer SA, Sims SK, et al. (2003).
"The DNA sequence and analysis of human chromosome 6" . Nature . 425 (6960): 805–11.
Bibcode :
2003Natur.425..805M .
doi :
10.1038/nature02055 .
PMID
14574404 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004).
"Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5.
doi :
10.1038/ng1285 .
PMID
14702039 .
Hänzelmann P, Hernández HL, Menzel C, et al. (2004).
"Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis" . J. Biol. Chem . 279 (33): 34721–32.
doi :
10.1074/jbc.M313398200 .
PMID
15180982 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004).
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7.
doi :
10.1101/gr.2596504 .
PMC
528928 .
PMID
15489334 .
Ichida K, Aydin HI, Hosoyamada M, et al. (2007). "A Turkish case with molybdenum cofactor deficiency". Nucleosides Nucleotides Nucleic Acids . 25 (9–11): 1087–91.
doi :
10.1080/15257770600894022 .
PMID
17065069 .
S2CID
40601679 .
Fat soluble vitamins
Water soluble vitamins
Nonvitamin cofactors