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    Tmem14c transmembrane protein 14C [ Mus musculus (house mouse) ]

    Gene ID: 66154, updated on 8-Feb-2024

    Summary

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    Official Symbol
    Tmem14cprovided by MGI
    Official Full Name
    transmembrane protein 14Cprovided by MGI
    Primary source
    MGI:MGI:1913404
    See related
    Ensembl:ENSMUSG00000021361 AllianceGenome:MGI:1913404
    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
    HSPC194; 1110021D01Rik
    Summary
    Predicted to enable identical protein binding activity. Acts upstream of or within erythrocyte differentiation; mitochondrial transport; and regulation of heme biosynthetic process. Located in mitochondrial inner membrane. Is expressed in several structures, including central nervous system; salivary gland; sensory organ; skeletal muscle; and thymus primordium. Orthologous to several human genes including TMEM14C (transmembrane protein 14C). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver E14 (RPKM 150.0), liver E14.5 (RPKM 146.6) and 27 other tissues See more
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    Genomic context

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    Location:
    13 A3.3; 13 20.25 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (41169726..41176058)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (41016250..41022582)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene glucosaminyl (N-acetyl) transferase 2 (I blood group) Neighboring gene predicted gene, 31683 Neighboring gene STARR-seq mESC enhancer starr_34294 Neighboring gene RIKEN cDNA A730081D07 gene Neighboring gene STARR-positive B cell enhancer ABC_E11542 Neighboring gene STARR-positive B cell enhancer ABC_E9874 Neighboring gene PAK1 interacting protein 1 Neighboring gene male germ cell-associated kinase Neighboring gene glial cells missing homolog 2

    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. TMEM14C is required for erythroid mitochondrial heme metabolism. Yien YY, et al. J Clin Invest, 2014 Oct. PMID 25157825, Free PMC Article
    2. Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis. Nilsson R, et al. Cell Metab, 2009 Aug. PMID 19656490, Free PMC Article
    3. Identification of the Mitochondrial Heme Metabolism Complex. Medlock AE, et al. PLoS One, 2015. PMID 26287972, Free PMC Article
    4. Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia. Carninci P, et al. Genome Res, 2003 Jun. PMID 12819125, Free PMC Article
    5. Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Mootha VK, et al. Cell, 2003 Nov 26. PMID 14651853

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM14C facilitates the import of protoporphyrinogen IX into the mitochondrial matrix for heme synthesis and subsequent hemoglobin production
      Title: TMEM14C is required for erythroid mitochondrial heme metabolism.
    2. Required for functional heme biosynthesis in erythroid cells.
      Title: Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Endonuclease-mediated (1) 

    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 identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heme biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within mitochondrial transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within nitrogen compound transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within organic substance transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of heme biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 14C

    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_001360770.1 → NP_001347699.1  transmembrane protein 14C isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC133496
      UniProtKB/TrEMBL
      Q8C297
      Conserved Domains (1) summary
      pfam03647
      Location:5 → 94
      Tmemb_14; Transmembrane proteins 14C

    2. NM_025387.3 → NP_079663.1  transmembrane protein 14C isoform 1

      See identical proteins and their annotated locations for NP_079663.1

      Status: VALIDATED

      Source sequence(s)
      AK010609, BY785978, CO039120
      Consensus CDS
      CCDS26470.1
      UniProtKB/Swiss-Prot
      Q543H6, Q9CQN6, Q9D849
      Related
      ENSMUSP00000021790.6, ENSMUST00000021790.7
      Conserved Domains (1) summary
      pfam03647
      Location:13 → 102
      Tmemb_14; Transmembrane proteins 14C

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      41169726..41176058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516938.3 → XP_006517001.1  transmembrane protein 14C isoform X1

      See identical proteins and their annotated locations for XP_006517001.1

      UniProtKB/TrEMBL
      Q8C297
      Conserved Domains (1) summary
      pfam03647
      Location:5 → 94
      Tmemb_14; Transmembrane proteins 14C
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CQN6.1 GenPept UniProtKB/Swiss-Prot:Q9CQN6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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