HCCS
entrez
3052
canonical
uniprot
P53701
canonical
ensembl
ENSG00000004961
resolver
ensp
ENSP00000326579
resolver
ensp
ENSP00000370139
resolver
ensp
ENSP00000370140
resolver
ensp
ENSP00000552368
resolver
ensp
ENSP00000552370
resolver
ensp
ENSP00000581535
resolver
ensp
ENSP00000611897
resolver
enst
ENST00000321143
resolver
enst
ENST00000380762
resolver
enst
ENST00000380763
resolver
enst
ENST00000882309
resolver
enst
ENST00000882311
resolver
enst
ENST00000911476
resolver
enst
ENST00000941838
resolver
genesymbol
HCCS
resolver
genesymbol_syn
CCHL
resolver
hgnc
HGNC:4837
resolver
uniprot
B3KUS1
resolver
uniprot
Q502X8
resolver
uniprot_entry
CCHL_HUMAN
resolver
uniprot_sec
B3KUS1
resolver
uniprot_sec
Q502X8
resolver
amino_acid_sequence
MGLSPSAPAVAVQASNASASPPSGCPMHEGKMKGCPVNTEPSGPTCEKKTYSVPAHQERAYEYVECPIRGTAAENKENLDPSNLMPPPNQTPAPDQPFALSTVREESSIPRADSEKKWVYPSEQMFWNAMLKKGWKWKDEDISQKDMYNIIRIHNQNNEQAWKEILKWEALHAAECPCGPSLIRFGGKAKEYSPRARIRSWMGYELPFDRHDWIINRCGTEVRYVIDYYDGGEVNKDYQFTILDVRPALDSLSAVWDRMKVAWWRWTS
uniprot
proteins
disease_involvement
DISEASE: Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) [MIM:309801]: A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, intellectual disability, and diaphragmatic hernia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269|PubMed:17033964}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.4.1.17
uniprot
proteins
function
FUNCTION: Lyase that catalyzes the covalent linking of the heme group to the cytochrome C apoprotein to produce the mature functional cytochrome. {ECO:0000269|PubMed:23150584}.
uniprot
proteins
mass_dalton
30602
uniprot
proteins
mutagenesis
MUTAGEN 154; /note="H->A,G,Y: Loss of holocytochrome C synthase activity. Loss of heme-binding. Loss of interaction with cytochrome C."; /evidence="ECO:0000269|PubMed:23150584"; MUTAGEN 211; /note="H->A,G,C,Y: No effect on holocytochrome C synthase activity."; /evidence="ECO:0000269|PubMed:23150584
uniprot
proteins
protein_family
Cytochrome c-type heme lyase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17033964
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23150584
uniprot
proteins
pubmed
25255805
uniprot
proteins
pubmed
25807930
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
8661044
uniprot
proteins
pubmed
9674913
uniprot
proteins
sequence_length
268
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:17033964}. Membrane {ECO:0000269|PubMed:23150584}; Lipid-anchor {ECO:0000305|PubMed:25255805, ECO:0000305|PubMed:25807930}.
uniprot
proteins