Homo sapiens (human): 27249
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Entry
27249 CDS
T01001
Symbol
MMADHC, C2orf25, CL25022, HMAD, MACD, MAHCD, cblD
Name
(RefSeq) metabolism of cobalamin associated D
KO
K26006
cobalamin trafficking protein CblD
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
N01812
Cobalamin loading and activation of MTR
Disease
H00174
Methylmalonic aciduria
H00183
Homocystinuria
H02221
Methylmalonic aciduria and homocystinuria
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09150 Organismal Systems
09154 Digestive system
04980 Cobalamin transport and metabolism
27249 (MMADHC)
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Motif
Pfam:
MMADHC
Motif
Other DBs
NCBI-GeneID:
27249
NCBI-ProteinID:
NP_056517
OMIM:
611935
HGNC:
25221
Ensembl:
ENSG00000168288
UniProt:
Q9H3L0
Structure
PDB
PDBj
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All DBs
Position
2:complement(149569637..149587775)
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AA seq
296 aa
AA seq
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MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPDICSRTVWPDE
TMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSLVHKTLPDVLAEPLSSERHEFVMAQYV
NEFQGNDAPVEQEINSAETYFESARVECAIQTCPELLRKDFESLFPEVANGKLMILTVTQ
KTKNDMTVWSEEVEIEREVLLEKFINGAKEICYALRAEGYWADFIDPSSGLAFFGPYTNN
TLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVVGSIFTNATPDSHIMKKLSGN
NT seq
891 nt
NT seq
+upstream
nt +downstream
nt
atggccaatgtgctttgtaacagagccagactggtttcctatctcccaggattttgctct
ttagttaaaagggttgtcaatcccaaagccttttcgactgcaggatcatcaggttcggat
gagtctcatgtggctgctgcacctccagatatatgctctcgaacagtgtggcctgatgaa
actatgggaccctttggacctcaagatcagaggttccagcttcctgggaacataggtttt
gattgtcacctcaatgggactgcttcacagaagaaaagcctggttcataaaactttgcct
gatgttctagcagaacctttatcaagtgaaagacatgagtttgtgatggcacaatatgtg
aatgaatttcagggtaatgatgcacctgttgaacaagaaattaacagtgcagaaacttac
tttgaaagtgccagagtagagtgtgcaatacagacatgtccagaattgctgcgaaaagat
tttgaatcactgtttccagaagtagctaatggcaaactaatgattctgactgtaacacaa
aaaactaagaatgatatgactgtttggagtgaagaagtagaaattgaaagagaagtgctc
ttagaaaagttcatcaatggtgctaaggaaatttgctatgctcttcgagctgagggttat
tgggctgactttattgacccatcatctggtttggcattttttggaccatatacaaacaac
actctttttgaaactgatgaacgctaccgacatttaggattctctgttgatgaccttgga
tgctgtaaagtgattcgtcatagtctctggggtacccatgtagttgtagggagtatcttc
actaatgcaacaccagacagccatattatgaagaaattaagtggaaattag
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