KEGG   Homo sapiens (human): 3052Help
Entry
3052              CDS       T01001                                 

Gene name
HCCS, CCHL, LSDMCA1, MCOPS7, MLS
Definition
(RefSeq) holocytochrome c synthase
  KO
K01764  cytochrome c heme-lyase [EC:4.4.1.17]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
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 and chlorophyll 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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Cyto_heme_lyase
Motif
Other DBs
NCBI-GeneID: 3052
NCBI-ProteinID: NP_001116080
OMIM: 300056
HGNC: 4837
Ensembl: ENSG00000004961
Vega: OTTHUMG00000021128
Pharos: P53701(Tbio)
UniProt: P53701 A0A024RBY9
Position
Xp22.2
AA seq 268 aa AA seqDB search
MGLSPSAPAVAVQASNASASPPSGCPMHEGKMKGCPVNTEPSGPTCEKKTYSVPAHQERA
YEYVECPIRGTAAENKENLDPSNLMPPPNQTPAPDQPFALSTVREESSIPRADSEKKWVY
PSEQMFWNAMLKKGWKWKDEDISQKDMYNIIRIHNQNNEQAWKEILKWEALHAAECPCGP
SLIRFGGKAKEYSPRARIRSWMGYELPFDRHDWIINRCGTEVRYVIDYYDGGEVNKDYQF
TILDVRPALDSLSAVWDRMKVAWWRWTS
NT seq 807 nt NT seq  +upstreamnt  +downstreamnt
atgggtttgtctccatctgctcctgctgttgcagttcaggcctcaaatgcttcagcgtcc
ccaccttcaggatgcccgatgcatgaagggaaaatgaaaggctgtccagtgaatacagag
ccatctggcccaacctgtgagaagaaaacatactctgtgcctgcccaccaggaacgcgcc
tatgagtacgtggagtgtcccattaggggcactgcggctgagaataaggagaacctagat
ccttcaaatctgatgccaccaccaaatcaaacaccagctccagatcagccatttgcattg
tctactgtcagagaagagtcatccattccgagagcagattcagagaaaaagtgggtttac
ccttctgagcagatgttctggaatgcaatgttaaagaaagggtggaagtggaaggatgag
gatatcagtcagaaggatatgtataatatcattagaattcacaatcagaataacgagcag
gcttggaaggagattttgaagtgggaagcccttcatgctgcagagtgtccttgtggtcca
tcattgatccggtttggagggaaagcaaaagagtattcaccaagggcacgaattcgttcc
tggatggggtatgagttgccttttgataggcacgattggatcataaaccgttgcgggaca
gaagttagatatgtgattgattattatgatggtggtgaagtcaacaaggactaccagttc
accatcctggacgtccgtcctgccttagattcactttcggcagtatgggacagaatgaaa
gtcgcttggtggcgttggacctcgtaa

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