KEGG   Homo sapiens (human): 64374
Entry
64374             CDS       T01001                                 
Symbol
SIL1, BAP, MSS, ULG5
Name
(RefSeq) SIL1 nucleotide exchange factor
  KO
K14001  nucleotide exchange factor SIL1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Disease
H01284  Marinesco-Sjogren syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    64374 (SIL1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    64374 (SIL1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Proteins involved in Fe-S cluster biogenesis
    64374 (SIL1)
SSDB
Motif
Pfam: Fes1 DUF4704 V-ATPase_H_C G0-G1_switch_2
Other DBs
NCBI-GeneID: 64374
NCBI-ProteinID: NP_001032722
OMIM: 608005
HGNC: 24624
Ensembl: ENSG00000120725
UniProt: Q9H173 A0A0S2Z6B4
Structure
Position
5:complement(138946724..139198368)
AA seq 461 aa
MAPQSLPSSRMAPLGMLLGLLMAACFTFCLSHQNLKEFALTNPEKSSTKETERKETKAEE
ELDAEVLEVFHPTHEWQALQPGQAVPAGSHVRLNLQTGEREAKLQYEDKFRNNLKGKRLD
INTNTYTSQDLKSALAKFKEGAEMESSKEDKARQAEVKRLFRPIEELKKDFDELNVVIET
DMQIMVRLINKFNSSSSSLEEKIAALFDLEYYVHQMDNAQDLLSFGGLQVVINGLNSTEP
LVKEYAAFVLGAAFSSNPKVQVEAIEGGALQKLLVILATEQPLTAKKKVLFALCSLLRHF
PYAQRQFLKLGGLQVLRTLVQEKGTEVLAVRVVTLLYDLVTEKMFAEEEAELTQEMSPEK
LQQYRQVHLLPGLWEQGWCEITAHLLALPEHDAREKVLQTLGVLLTTCRDRYRQDPQLGR
TLASLQAEYQVLASLELQDGEDEGYFQELLGSVNSLLKELR
NT seq 1386 nt   +upstreamnt  +downstreamnt
atggctccccagagcctgccttcatctaggatggctcctctgggcatgctgcttgggctg
ctgatggccgcctgcttcaccttctgcctcagtcatcagaacctgaaggagtttgccctg
accaacccagagaagagcagcaccaaagaaacagagagaaaagaaaccaaagccgaggag
gagctggatgccgaagtcctggaggtgttccacccgacgcatgagtggcaggcccttcag
ccagggcaggctgtccctgcaggatcccacgtacggctgaatcttcagactggggaaaga
gaggcaaaactccaatatgaggacaagttccgaaataatttgaaaggcaaaaggctggat
atcaacaccaacacctacacatctcaggatctcaagagtgcactggcaaaattcaaggag
ggggcagagatggagagttcaaaggaagacaaggcaaggcaggctgaggtaaagcggctc
ttccgccccattgaggaactgaagaaagactttgatgagctgaatgttgtcattgagact
gacatgcagatcatggtacggctgatcaacaagttcaatagttccagctccagtttggaa
gagaagattgctgcgctctttgatcttgaatattatgtccatcagatggacaatgcgcag
gacctgctttcctttggtggtcttcaagtggtgatcaatgggctgaacagcacagagccc
ctcgtgaaggagtatgctgcgtttgtgctgggcgctgccttttccagcaaccccaaggtc
caggtggaggccatcgaagggggagccctgcagaagctgctggtcatcctggccacggag
cagccgctcactgcaaagaagaaggtcctgtttgcactgtgctccctgctgcgccacttc
ccctatgcccagcggcagttcctgaagctcggggggctgcaggtcctgaggaccctggtg
caggagaagggcacggaggtgctcgccgtgcgcgtggtcacactgctctacgacctggtc
acggagaagatgttcgccgaggaggaggctgagctgacccaggagatgtccccagagaag
ctgcagcagtatcgccaggtacacctcctgccaggcctgtgggaacagggctggtgcgag
atcacggcccacctcctggcgctgcccgagcatgatgcccgtgagaaggtgctgcagaca
ctgggcgtcctcctgaccacctgccgggaccgctaccgtcaggacccccagctcggcagg
acactggccagcctgcaggctgagtaccaggtgctggccagcctggagctgcaggatggt
gaggacgagggctacttccaggagctgctgggctctgtcaacagcttgctgaaggagctg
agatga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (11)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (38)   
   RefSeq(nuc) (8)   
   GenBank (15)   
   EMBL (15)   
3D Structure (2)   
   PDB (2)   
Protein domain (4)   
   Pfam (4)   
All databases (75)   

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