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    Hccs holocytochrome c synthetase [ Mus musculus (house mouse) ]

    Gene ID: 15159, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Hccsprovided by MGI
    Official Full Name
    holocytochrome c synthetaseprovided by MGI
    Primary source
    MGI:MGI:106911
    See related
    Ensembl:ENSMUSG00000031352 AllianceGenome:MGI:106911
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CCHL
    Summary
    Predicted to enable heme binding activity and holocytochrome-c synthase activity. Predicted to be involved in cytochrome c-heme linkage. Is active in cytosol and mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study microphthalmia. Human ortholog(s) of this gene implicated in linear skin defects with multiple congenital anomalies 1 and microphthalmia. Orthologous to human HCCS (holocytochrome c synthase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 10.4), limb E14.5 (RPKM 6.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hccs in Genome Data Viewer
    Location:
    X F5; X 78.98 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (168094526..168103361, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (169311530..169320374, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chrX:165110350-165110651 Neighboring gene STARR-seq mESC enhancer starr_48278 Neighboring gene MSL complex subunit 3 Neighboring gene Rho GTPase activating protein 6 Neighboring gene STARR-seq mESC enhancer starr_48279 Neighboring gene STARR-seq mESC enhancer starr_48280 Neighboring gene STARR-positive B cell enhancer mm9_chrX:165523946-165524246 Neighboring gene STARR-seq mESC enhancer starr_48281 Neighboring gene amelogenin, X-linked Neighboring gene predicted gene 15246 Neighboring gene STARR-seq mESC enhancer starr_48282 Neighboring gene predicted gene 15245

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Dietary protein restriction throughout intrauterine and postnatal life results in potentially beneficial myocardial tissue remodeling in the adult mouse heart. Hennig M, et al. Sci Rep, 2019 Oct 22. PMID 31641210, Free PMC Article
    2. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Schaefer L, et al. Genomics, 1996 Jun 1. PMID 8661044
    3. Impaired myocardial development resulting in neonatal cardiac hypoplasia alters postnatal growth and stress response in the heart. Drenckhahn JD, et al. Cardiovasc Res, 2015 Apr 1. PMID 25661081
    4. Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development. Drenckhahn JD, et al. Dev Cell, 2008 Oct. PMID 18854137
    5. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Prakash SK, et al. Hum Mol Genet, 2002 Dec 1. PMID 12444108

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice
      Title: Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables holocytochrome-c synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables holocytochrome-c synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables holocytochrome-c synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytochrome c-heme linkage ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    holocytochrome c-type synthase
    Names
    cytochrome c-type heme lyase
    NP_001317978.1
    NP_001317979.1
    NP_001397360.1
    NP_001397361.1
    NP_001397362.1
    NP_001397363.1
    NP_001397364.1
    NP_001397365.1
    NP_001397366.1
    NP_001397367.1
    NP_001397368.1
    NP_001397369.1
    NP_001397370.1
    NP_032248.3

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001331049.2 → NP_001317978.1  holocytochrome c-type synthase isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 all encode the same protein.
      Source sequence(s)
      AL831750
      Consensus CDS
      CCDS30535.1
      UniProtKB/Swiss-Prot
      P53702, Q6P5G5
      UniProtKB/TrEMBL
      Q8BP79
      Related
      ENSMUSP00000107743.2, ENSMUST00000112115.2
      Conserved Domains (1) summary
      pfam01265
      Location:5 → 270
      Cyto_heme_lyase; Cytochrome c/c1 heme lyase

    2. NM_001331050.2 → NP_001317979.1  holocytochrome c-type synthase isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 all encode the same protein.
      Source sequence(s)
      AL831750
      Consensus CDS
      CCDS30535.1
      UniProtKB/Swiss-Prot
      P53702, Q6P5G5
      UniProtKB/TrEMBL
      Q8BP79
      Conserved Domains (1) summary
      pfam01265
      Location:5 → 270
      Cyto_heme_lyase; Cytochrome c/c1 heme lyase

    3. NM_001410431.1 → NP_001397360.1  holocytochrome c-type synthase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL831750
      UniProtKB/Swiss-Prot
      P53702, Q6P5G5

    4. NM_001410432.1 → NP_001397361.1  holocytochrome c-type synthase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL831750
      UniProtKB/Swiss-Prot
      P53702, Q6P5G5

    5. NM_001410433.1 → NP_001397362.1  holocytochrome c-type synthase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL831750

    6. NM_001410434.1 → NP_001397363.1  holocytochrome c-type synthase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL831750

    7. NM_001410435.1 → NP_001397364.1  holocytochrome c-type synthase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL831750

    8. NM_001410436.1 → NP_001397365.1  holocytochrome c-type synthase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL831750

    9. NM_001410437.1 → NP_001397366.1  holocytochrome c-type synthase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL831750

    10. NM_001410438.1 → NP_001397367.1  holocytochrome c-type synthase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL831750

    11. NM_001410439.1 → NP_001397368.1  holocytochrome c-type synthase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL831750

    12. NM_001410440.1 → NP_001397369.1  holocytochrome c-type synthase isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL831750

    13. NM_001410441.1 → NP_001397370.1  holocytochrome c-type synthase isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL831750

    14. NM_008222.6 → NP_032248.3  holocytochrome c-type synthase isoform 1

      See identical proteins and their annotated locations for NP_032248.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 all encode the same protein.
      Source sequence(s)
      AL831750
      Consensus CDS
      CCDS30535.1
      UniProtKB/Swiss-Prot
      P53702, Q6P5G5
      UniProtKB/TrEMBL
      Q8BP79
      Related
      ENSMUSP00000033717.3, ENSMUST00000033717.9
      Conserved Domains (1) summary
      pfam01265
      Location:5 → 270
      Cyto_heme_lyase; Cytochrome c/c1 heme lyase

    RNA

    1. NR_177071.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL831750

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      168094526..168103361 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53702.2 GenPept UniProtKB/Swiss-Prot:P53702

    Gene LinkOut

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