Property Summary

NCBI Gene PubMed Count 22
Grant Count 169
R01 Count 90
Funding $30,052,766.79
PubMed Score 2181.10
PubTator Score 343.81

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
Multiple myeloma 1.015 0.006
astrocytic glioma -2.000 0.009
ependymoma -1.700 0.032
psoriasis 1.800 0.000
atypical teratoid / rhabdoid tumor -1.400 0.000
glioblastoma -1.100 0.000
medulloblastoma -1.200 0.000
medulloblastoma, large-cell -1.700 0.000
tuberculosis -1.400 0.000
intraductal papillary-mucinous neoplasm ... 2.100 0.003
lung cancer -1.100 0.011
ovarian cancer 1.500 0.000

Synonym

Accession P53701 B3KUS1 Q502X8 CCHL
Symbols MLS
CCHL
MCOPS7
LSDMCA1

Gene

PANTHER Protein Class (1)

Gene RIF (7)

PMID Text
25170082 cysteines and histidine of the heme attachment site, Cys-XX-Cys-His play a key role in mitochondrial holocytochrome c synthase
25054239 These data indicate that heme contacts mediated by residues within these domains modulate the dynamics of heme binding and contribute to the stability of the HCCS-heme-cytochrome c steady state ternary complex.
23401659 Identification of a deletion in two patients, including HCCS, leads to the diagnosis of microphthalmia with linear skin defects syndrome
23150584 Spectroscopic analyses of HCCS alone and complexes of HCCS with site-directed variants of cytochrome c revealed the fundamental steps of heme attachment and maturation.
17893649 Missense mutation p.E159K of HCCS, leading to loss-of-function of encoded holocytochrome c-type synthase, in female with microphthalmia of both eyes and bilateral sclerocornea may suggest HCCS as candidate for severe ocular manifestations.
17033964 mutant proteins (R217C and Delta 197-268) were unable to complement a Saccharomyces cerevisiae mutant deficient for the HCCS orthologue Cyc3p, in contrast to wild-type HCCS
12444108 Through the study of genetically engineered mice, the loss of HCCS is demonstrated to cause the male lethality of microphthalmia with linear skin defects (MLS) syndrome.

AA Sequence

MGLSPSAPAVAVQASNASASPPSGCPMHEGKMKGCPVNTEPSGPTCEKKTYSVPAHQERAYEYVECPIRG      1 - 70
TAAENKENLDPSNLMPPPNQTPAPDQPFALSTVREESSIPRADSEKKWVYPSEQMFWNAMLKKGWKWKDE     71 - 140
DISQKDMYNIIRIHNQNNEQAWKEILKWEALHAAECPCGPSLIRFGGKAKEYSPRARIRSWMGYELPFDR    141 - 210
HDWIINRCGTEVRYVIDYYDGGEVNKDYQFTILDVRPALDSLSAVWDRMKVAWWRWTS                211 - 268
//

Text Mined References (23)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25807930 2015 Multifunctional reagents for quantitative proteome-wide analysis of protein modification in human cells and dynamic profiling of protein lipidation during vertebrate development.
25255805 2014 Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.
25170082 2014 Mechanisms of mitochondrial holocytochrome c synthase and the key roles played by cysteines and histidine of the heme attachment site, Cys-XX-Cys-His.
25054239 2014 Conserved residues of the human mitochondrial holocytochrome c synthase mediate interactions with heme.
23401659 2013 Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.
23150584 2013 Human mitochondrial holocytochrome c synthase's heme binding, maturation determinants, and complex formation with cytochrome c.
21269460 2011 Initial characterization of the human central proteome.
19734545 2009 A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
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