Homo sapiens (human): 166785
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Entry
166785 CDS
T01001
Symbol
MMAA, cblA
Name
(RefSeq) metabolism of cobalamin associated A
KO
K07588
GTPase [EC:3.6.5.-]
Organism
hsa
Homo sapiens (human)
Pathway
hsa04980
Cobalamin transport and metabolism
Network
nt06538
Cobalamin transport and metabolism
Element
N01811
Mitochondrial adenocylation of cobalamin and loading onto MMUT
Disease
H00174
Methylmalonic aciduria
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09150 Organismal Systems
09154 Digestive system
04980 Cobalamin transport and metabolism
166785 (MMAA)
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Gene cluster
GFIT
Motif
Pfam:
MeaB
cobW
ATP_bind_1
AAA_22
AAA_18
AAA_30
Thymidylate_kin
RNA_helicase
NTPase_1
ABC_tran
AAA_24
MnmE_helical
Motif
Other DBs
NCBI-GeneID:
166785
NCBI-ProteinID:
NP_001362573
OMIM:
607481
HGNC:
18871
Ensembl:
ENSG00000151611
UniProt:
Q8IVH4
Structure
PDB
PDBj
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Position
4:145619385..145660033
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AA seq
418 aa
AA seq
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MPMLLPHPHQHFLKGLLRAPFRCYHFIFHSSTHLGSGIPCAQPFNSLGLHCTKWMLLSDG
LKRKLCVQTTLKDHTEGLSDKEQRFVDKLYTGLIQGQRACLAEAITLVESTHSRKKELAQ
VLLQKVLLYHREQEQSNKGKPLAFRVGLSGPPGAGKSTFIEYFGKMLTERGHKLSVLAVD
PSSCTSGGSLLGDKTRMTELSRDMNAYIRPSPTRGTLGGVTRTTNEAILLCEGAGYDIIL
IETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLVAVTKSDGDLIVPAR
RIQAEYVSALKLLRKRSQVWKPKVIRISARSGEGISEMWDKMKDFQDLMLASGELTAKRR
KQQKVWMWNLIQESVLEHFRTHPTVREQIPLLEQKVLIGALSPGLAADFLLKAFKSRD
NT seq
1257 nt
NT seq
+upstream
nt +downstream
nt
atgcccatgctgctaccacatcctcaccagcatttcctaaaaggccttttaagagcacct
ttccgatgttaccacttcatctttcactcaagtactcatctcggatcaggaatcccatgt
gctcagccgtttaattctcttggactccattgtacaaagtggatgctgctgtcagatggc
ttaaagagaaaattatgtgtacaaacaaccttaaaggaccacacagaaggactttctgat
aaagagcaaagatttgtggataaactttatactggtttaatccaagggcaaagggcctgt
ttagcagaggccataactcttgtagaatcaactcacagcaggaaaaaggagttagcccag
gtgcttcttcagaaagtattactttaccacagagaacaagaacaatcaaataaaggaaaa
ccactagcatttcgagtaggattgtctgggccccctggtgctggaaaatcaacatttata
gaatattttggaaaaatgcttactgagagagggcacaaattatctgtgctagctgtggac
ccttcttcttgtactagtggtggatcactcttaggtgataaaacccgaatgactgagtta
tcaagagatatgaatgcatacatcaggccatctcctactagaggaactttaggaggcgtg
acaaggaccacaaatgaagctattctgttgtgtgaaggagcgggatatgacataattctt
attgaaaccgttggtgtgggtcagtcggagtttgctgttgctgacatggttgacatgttt
gttttactactgccaccagcaggaggagatgagctgcagggtatcaaaaggggtataatc
gagatggcagatctggtagctgtaactaaatctgatggagacttgattgtgccagctcga
aggatacaagcggaatatgtgagtgcactgaaattactccgcaaacgttcacaagtctgg
aaaccaaaggtaattcgtatttctgcccgaagtggagaggggatctctgaaatgtgggat
aaaatgaaagatttccaggacctaatgcttgccagtggggagctgactgccaaacgacgg
aagcaacagaaagtttggatgtggaatctcattcaggaaagtgtgttagagcatttcagg
acccaccccacagtccgggaacagattccacttctggaacaaaaggttctcattggggcc
ctgtccccaggactagcagcagacttcttgttaaaagcttttaaaagcagagactaa
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