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    TMEM14C transmembrane protein 14C [ Homo sapiens (human) ]

    Gene ID: 51522, updated on 2-Nov-2024

    Summary

    Official Symbol
    TMEM14Cprovided by HGNC
    Official Full Name
    transmembrane protein 14Cprovided by HGNC
    Primary source
    HGNC:HGNC:20952
    See related
    Ensembl:ENSG00000111843 MIM:615318; AllianceGenome:HGNC:20952
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NET26; C6orf53; HSPC194; MSTP073; bA421M1.6
    Summary
    Predicted to be involved in regulation of heme biosynthetic process. Predicted to act upstream of or within erythrocyte differentiation; mitochondrial transport; and nitrogen compound transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 65.2), adrenal (RPKM 55.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TMEM14C in Genome Data Viewer
    Location:
    6p24.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10723070..10731127)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10590767..10598824)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10723303..10731360)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene GCNT2 pseudogene 1 Neighboring gene MPRA-validated peak5653 silencer Neighboring gene chromosome 6 open reading frame 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10694821-10695423 Neighboring gene PAK1 interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16903 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10723303-10724199 Neighboring gene Sharpr-MPRA regulatory region 12108 Neighboring gene TMEM14B divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23972 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:10747832-10748052 Neighboring gene transmembrane protein 14B Neighboring gene RNA, 5S ribosomal pseudogene 203

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in erythrocyte differentiation  
    involved_in heme biosynthetic process  
    involved_in mitochondrial transport  
    involved_in regulation of heme biosynthetic process  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane  
    is_active_in mitochondrial membrane  
    located_in mitochondrion PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001165258.2NP_001158730.1  transmembrane protein 14C

      See identical proteins and their annotated locations for NP_001158730.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL702149, BC010086, CX784985
      Consensus CDS
      CCDS4514.1
      UniProtKB/Swiss-Prot
      Q5T4I6, Q9P0S9
      UniProtKB/TrEMBL
      Q53F27
      Related
      ENSP00000444561.1, ENST00000541412.5
      Conserved Domains (1) summary
      pfam03647
      Location:12101
      Tmemb_14; Transmembrane proteins 14C
    2. NM_016462.4NP_057546.1  transmembrane protein 14C

      See identical proteins and their annotated locations for NP_057546.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BC010086, CX784985
      Consensus CDS
      CCDS4514.1
      UniProtKB/Swiss-Prot
      Q5T4I6, Q9P0S9
      UniProtKB/TrEMBL
      Q53F27
      Related
      ENSP00000229563.5, ENST00000229563.6
      Conserved Domains (1) summary
      pfam03647
      Location:12101
      Tmemb_14; Transmembrane proteins 14C

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      10723070..10731127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654713.1 Reference GRCh38.p14 PATCHES

      Range
      233954..242011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      10590767..10598824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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