Format

Send to:

Choose Destination

HCCS holocytochrome c synthase [ Homo sapiens (human) ]

Gene ID: 3052, updated on 11-Sep-2019

Summary

Official Symbol
HCCSprovided by HGNC
Official Full Name
holocytochrome c synthaseprovided by HGNC
Primary source
HGNC:HGNC:4837
See related
Ensembl:ENSG00000004961 MIM:300056
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MLS; CCHL; MCOPS7; LSDMCA1
Summary
The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]
Expression
Ubiquitous expression in heart (RPKM 12.9), colon (RPKM 8.9) and 25 other tissues See more
Orthologs

Genomic context

See HCCS in Genome Data Viewer
Location:
Xp22.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (11111332..11123086)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (11129406..11141206)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene midline 1 Neighboring gene MID1 promoter D Neighboring gene RNA, U6 small nuclear 800, pseudogene Neighboring gene uncharacterized LOC107985627 Neighboring gene Rho GTPase activating protein 6 Neighboring gene amelogenin X-linked

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-10)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp779I1858

Gene Ontology Provided by GOA

Function Evidence Code Pubs
holocytochrome-c synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cytochrome c-heme linkage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cytochrome c-type heme lyase
Names
cytochrome c heme-lyase
holocytochrome c-type synthase
microphthalamia with linear skin defects
NP_001116080.1
NP_001165462.1
NP_005324.3
XP_024308136.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016460.1 RefSeqGene

    Range
    5038..16792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001122608.3NP_001116080.1  cytochrome c-type heme lyase

    See identical proteins and their annotated locations for NP_001116080.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AI027533, AK097815
    Consensus CDS
    CCDS14139.1
    UniProtKB/Swiss-Prot
    P53701
    UniProtKB/TrEMBL
    A0A024RBY9
    Related
    ENSP00000326579.4, ENST00000321143.8
    Conserved Domains (1) summary
    pfam01265
    Location:4266
    Cyto_heme_lyase; Cytochrome c/c1 heme lyase
  2. NM_001171991.3NP_001165462.1  cytochrome c-type heme lyase

    See identical proteins and their annotated locations for NP_001165462.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AI027533, BC001691, BC095455, DB253108
    Consensus CDS
    CCDS14139.1
    UniProtKB/Swiss-Prot
    P53701
    UniProtKB/TrEMBL
    A0A024RBY9
    Related
    ENSP00000370140.3, ENST00000380763.7
    Conserved Domains (1) summary
    pfam01265
    Location:4266
    Cyto_heme_lyase; Cytochrome c/c1 heme lyase
  3. NM_005333.5NP_005324.3  cytochrome c-type heme lyase

    See identical proteins and their annotated locations for NP_005324.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AI027533, BC095455, DB253108
    Consensus CDS
    CCDS14139.1
    UniProtKB/Swiss-Prot
    P53701
    UniProtKB/TrEMBL
    A0A024RBY9
    Related
    ENSP00000370139.4, ENST00000380762.5
    Conserved Domains (1) summary
    pfam01265
    Location:4266
    Cyto_heme_lyase; Cytochrome c/c1 heme lyase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    11111332..11123086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452368.1XP_024308136.1  cytochrome c-type heme lyase isoform X1

    Conserved Domains (1) summary
    pfam01265
    Location:53286
    Cyto_heme_lyase; Cytochrome c/c1 heme lyase
Support Center