KEGG   Homo sapiens (human): 51300
Entry
51300             CDS       T01001                                 
Symbol
TIMMDC1, C3orf1, MC1DN31
Name
(RefSeq) translocase of inner mitochondrial membrane domain containing 1
  KO
K23505  complex I assembly factor TIMMDC1
Organism
hsa  Homo sapiens (human)
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    51300 (TIMMDC1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    51300 (TIMMDC1)
SSDB
Motif
Pfam: Tim17 DUF6861 Rick_17kDa_Anti
Other DBs
NCBI-GeneID: 51300
NCBI-ProteinID: NP_057673
OMIM: 615534
HGNC: 1321
Ensembl: ENSG00000113845
UniProt: Q9NPL8
Position
3:119498547..119525090
AA seq 285 aa
MEVPPPAPRSFLCRALCLFPRVFAAEAVTADSEVLEERQKRLPYVPEPYYPESGWDRLRE
LFGKDEQQRISKDLANICKTAATAGIIGWVYGGIPAFIHAKQQYIEQSQAEIYHNRFDAV
QSAHRAATRGFIRYGWRWGWRTAVFVTIFNTVNTSLNVYRNKDALSHFVIAGAVTGSLFR
INVGLRGLVAGGIIGALLGTPVGGLLMAFQKYSGETVQERKQKDRKALHELKLEEWKGRL
QVTEHLPEKIESSLQEDEPENDAKKIEALLNLPRNPSVIDKQDKD
NT seq 858 nt   +upstreamnt  +downstreamnt
atggaggtgccgccaccggcaccgcggagctttctctgtagagcattgtgcctatttccc
cgagtctttgctgccgaagctgtgactgccgattcggaagtccttgaggagcgtcagaag
cggcttccctacgtcccagagccctattacccggaatctggatgggaccgcctccgggag
ctgtttggcaaagatgaacagcagagaatttcaaaggaccttgctaatatctgtaagacg
gcagctacagcaggcatcattggctgggtgtatgggggaataccagcttttattcatgct
aaacaacaatacattgagcagagccaggcagaaatttatcataaccggtttgatgctgtg
caatctgcacatcgtgctgccacacgaggcttcattcgttatggctggcgctggggttgg
agaactgcagtgtttgtgactatattcaacacagtgaacactagtctgaatgtataccga
aataaagatgccttaagccattttgtaattgcaggagctgtcacgggaagtctttttagg
ataaacgtaggcctgcgtggcctggtggctggtggcataattggagccttgctgggcact
cctgtaggaggcctgctgatggcatttcagaagtactctggtgagactgttcaggaaaga
aaacagaaggatcgaaaggcactccatgagctaaaactggaagagtggaaaggcagacta
caagttactgagcacctccctgagaaaattgaaagtagtttacaggaagatgaacctgag
aatgatgctaagaaaattgaagcactgctaaaccttcctagaaacccttcagtaatagat
aaacaagacaaggactga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (33)   
   RefSeq(nuc) (3)   
   GenBank (15)   
   EMBL (15)   
Protein domain (3)   
   Pfam (3)   
All databases (61)   

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