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    TMEM69 transmembrane protein 69 [ Homo sapiens (human) ]

    Gene ID: 51249, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMEM69provided by HGNC
    Official Full Name
    transmembrane protein 69provided by HGNC
    Primary source
    HGNC:HGNC:28035
    See related
    Ensembl:ENSG00000159596 AllianceGenome:HGNC:28035
    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
    C1orf154
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 14.3), lymph node (RPKM 13.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM69 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45688181..45694436)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45560527..45566780)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46153853..46160108)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GC-rich promoter binding protein 1 like 1 Neighboring gene ribosomal protein S15a pseudogene 10 Neighboring gene ribosomal protein L7a pseudogene 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46142481-46142981 Neighboring gene Sharpr-MPRA regulatory region 13545 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46151821-46152419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 987 Neighboring gene intracisternal A particle-promoted polypeptide Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 834 Neighboring gene uncharacterized LOC105378693 Neighboring gene ribosomal protein L6 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Zhang QH, et al. Genome Res, 2000 Oct. PMID 11042152, Free PMC Article
    2. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    3. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21029, MGC104183

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 69

    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_016486.4 → NP_057570.2  transmembrane protein 69

      See identical proteins and their annotated locations for NP_057570.2

      Status: VALIDATED

      Source sequence(s)
      BC013608, DA451438
      Consensus CDS
      CCDS41325.1
      UniProtKB/Swiss-Prot
      Q3SWW5, Q5SWH9, Q7Z2G0, Q9P0P9
      Related
      ENSP00000361095.4, ENST00000372025.5
      Conserved Domains (1) summary
      pfam11911
      Location:97 → 228
      DUF3429; Protein of unknown function (DUF3429)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      45688181..45694436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      45560527..45566780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SWH9.1 GenPept UniProtKB/Swiss-Prot:Q5SWH9

    Gene LinkOut

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

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