| Type | Description |
|---|---|
| Definition | molybdenum cofactor synthesis 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-24 14:10:00 | Alternative splicing of the bicistronic gene molybdenum cofactor synthesis 1 (MOCS1) uncovers a novel mitochondrial protein maturation mechanism. | 31996372 |
| 2020-10-24 13:56:00 | ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts. | 31477743 |
| 2018-12-29 11:19:00 | Case Report: in a mild case of molybdenum cofactor deficiency detected two proteins: a truncated MOCS1AB protein and a 22.4 kDa protein representing MOCS1B, demonstrating an unusual mechanism of translation re-initiation in the MOCS1 transcript, which results in trace amounts of functional MOCS1B protein being sufficient to partially protect the patient from the most severe symptoms. | 29368224 |
| 2010-01-21 00:00:00 | 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 | 12754701 |
| 2010-01-21 00:00:00 | genetic and protein structural analysis of MOCS1 in molybdenum cofactor deficiency [case report] | 17065069 |
| Type | IDs |
|---|---|
| Synonymous | MIG11, MOCOD, MOCS1A, MOCS1B |
| Gene |
UniProtKB-ID:
MOCS1_HUMAN,
A0A024RD17_HUMAN
UniprotKB:
Q9NZB8,
A0A024RD17
UniParc:
UPI000013DA31,
UPI0000415071,
UPI000019A003,
UPI000036739D,
UPI000006FA21,
UPI000019B3D7,
UPI000019A004,
UPI0000070D36
EMBL:
AJ293577,
AK056740,
AF034374,
AL136089,
AJ293578,
AF214022,
AK300300,
AJ224328,
AJ293579,
CH471081,
AF214023,
AJ404969,
AY423726,
BC036839
Ensembl:
ENSG00000124615
KO:
hsa:4337
|
| Nucleutide sequences |
EMBL-CDS:
CAC44526.1,
CAI20007.1,
BAG62053.1,
AAF67858.1,
CAC44527.1,
CAI20011.1,
AAH36839.1,
CAI20012.1,
AAF67857.1,
CAI20014.1,
CAA11897.1,
CAI20015.1,
BAG51799.1,
AAS00489.1,
AAB87524.1,
AAB87523.1,
CAI20013.1,
CAA11898.1,
EAX04000.1,
EAX04001.1
Gene_ORFName:
MIG11,
hCG_33197
Ensembl_TRS:
ENST00000373195,
ENST00000373188,
ENST00000373181,
ENST00000340692
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000362277,
ENSP00000362291,
ENSP00000344794,
ENSP00000362284
RefSeq:
NP_005934.2,
NP_001068566.1,
NP_001345462.1,
NP_001345460.1,
NP_001345459.1,
NP_001345458.1,
NP_001345463.1
|
| Others |
UniRef100:
UniRef100_A0A024RD17,
UniRef100_Q9NZB8
UniRef90:
UniRef90_Q9NZB8,
UniRef90_Q9NZB8-6
UniRef50:
UniRef50_Q9NZB8,
UniRef50_Q9NZB8-6
UniGene:
Hs.357128,
Hs.718492
CCDS:
CCDS87394.1,
CCDS43460.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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