KEGG   Homo sapiens (human): 3052
Entry
3052              CDS       T01001                                 
Symbol
HCCS, CCHL, LSDMCA1, MCOPS7, MLS
Name
(RefSeq) holocytochrome c-type synthase
  KO
K01764  cytochrome c heme-lyase [EC:4.4.1.17]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin metabolism
hsa01100  Metabolic pathways
Disease
H01904  Microphthalmia with linear skin defects syndrome
H02170  Microphthalmia, syndromic
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin metabolism
    3052 (HCCS)
Enzymes [BR:hsa01000]
 4. Lyases
  4.4  Carbon-sulfur lyases
   4.4.1  Carbon-sulfur lyases (only sub-subclass identified to date)
    4.4.1.17  holocytochrome-c synthase
     3052 (HCCS)
SSDB
Motif
Pfam: Cyto_heme_lyase
Other DBs
NCBI-GeneID: 3052
NCBI-ProteinID: NP_001116080
OMIM: 300056
HGNC: 4837
UniProt: P53701
Position
X:11111332..11123086
AA seq 268 aa
MGLSPSAPAVAVQASNASASPPSGCPMHEGKMKGCPVNTEPSGPTCEKKTYSVPAHQERA
YEYVECPIRGTAAENKENLDPSNLMPPPNQTPAPDQPFALSTVREESSIPRADSEKKWVY
PSEQMFWNAMLKKGWKWKDEDISQKDMYNIIRIHNQNNEQAWKEILKWEALHAAECPCGP
SLIRFGGKAKEYSPRARIRSWMGYELPFDRHDWIINRCGTEVRYVIDYYDGGEVNKDYQF
TILDVRPALDSLSAVWDRMKVAWWRWTS
NT seq 807 nt   +upstreamnt  +downstreamnt
atgggtttgtctccatctgctcctgctgttgcagttcaggcctcaaatgcttcagcgtcc
ccaccttcaggatgcccgatgcatgaagggaaaatgaaaggctgtccagtgaatacagag
ccatctggcccaacctgtgagaagaaaacatactctgtgcctgcccaccaggaacgcgcc
tatgagtacgtggagtgtcccattaggggcactgcggctgagaataaggagaacctagat
ccttcaaatctgatgccaccaccaaatcaaacaccagctccagatcagccatttgcattg
tctactgtcagagaagagtcatccattccgagagcagattcagagaaaaagtgggtttac
ccttctgagcagatgttctggaatgcaatgttaaagaaagggtggaagtggaaggatgag
gatatcagtcagaaggatatgtataatatcattagaattcacaatcagaataacgagcag
gcttggaaggagattttgaagtgggaagcccttcatgctgcagagtgtccttgtggtcca
tcattgatccggtttggagggaaagcaaaagagtattcaccaagggcacgaattcgttcc
tggatggggtatgagttgccttttgataggcacgattggatcataaaccgttgcgggaca
gaagttagatatgtgattgattattatgatggtggtgaagtcaacaaggactaccagttc
accatcctggacgtccgtcctgccttagattcactttcggcagtatgggacagaatgaaa
gtcgcttggtggcgttggacctcgtaa

  All links  
Disease (2)   
   OMIM (2)   
Gene (11)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (19)   
   RefSeq(nuc) (3)   
   GenBank (8)   
   EMBL (8)   
Protein domain (1)   
   Pfam (1)   
All databases (38)   

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