KEGG   Homo sapiens (human): 83636
Entry
83636             CDS       T01001                                 
Symbol
C19orf12, MPAN, NBIA3, NBIA4, SPG43
Name
(RefSeq) chromosome 19 open reading frame 12
  KO
K23168  protein MPAN
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia
H00833  Neurodegeneration with brain iron accumulation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    83636 (C19orf12)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitophagy factors
   Other mitophagy factors
    83636 (C19orf12)
SSDB
Motif
Pfam: C19orf12 DUF5862
Other DBs
NCBI-GeneID: 83636
NCBI-ProteinID: NP_001026896
OMIM: 614297
HGNC: 25443
Ensembl: ENSG00000131943
UniProt: Q9NSK7
Position
19:complement(29698886..29715789)
AA seq 141 aa
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGL
LGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQ
LLAMLVNYVTKELRAEIQYDD
NT seq 426 nt   +upstreamnt  +downstreamnt
atgactatcatggtggaggacatcatgaagctgctgtgctccctttctggggagaggaag
atgaaggcggctgtcaagcactctgggaagggtgccctggtcacaggggccatggccttc
gtcgggggtttggtgggcggcccaccgggactcgccgttgggggggctgtcggggggctg
ttaggtgcctggatgacaagtggacagtttaagccggttcctcagatcctaatggagctg
ccccctgccgagcaacagaggctctttaacgaagccgcagccatcatcaggcacctggag
tggacggacgccgtgcagctgaccgcgctggtcatgggcagcgaggccctgcagcagcag
ctgctggccatgctggtgaactacgtcaccaaggagctgcgggccgagatccagtatgat
gactag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (16)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (14)   
DNA sequence (44)   
   RefSeq(nuc) (14)   
   GenBank (15)   
   EMBL (15)   
Protein domain (2)   
   Pfam (2)   
All databases (80)   

Download RDF
DBGET integrated database retrieval system