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    TMEM143 transmembrane protein 143 [ Homo sapiens (human) ]

    Gene ID: 55260, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM143provided by HGNC
    Official Full Name
    transmembrane protein 143provided by HGNC
    Primary source
    HGNC:HGNC:25603
    See related
    Ensembl:ENSG00000161558 AllianceGenome:HGNC:25603
    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
    Summary
    Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 9.0), fat (RPKM 4.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM143 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48332356..48363940, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51326502..51358084, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48835613..48867197, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene outer dynein arm docking complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10875 Neighboring gene uncharacterized LOC124904735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14879 Neighboring gene Sharpr-MPRA regulatory region 73 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14881 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48827824-48828055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48836515-48837250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48842328-48843265 Neighboring gene epithelial membrane protein 3 (MAM blood group) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48845414-48845914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48845915-48846415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876382-48876882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876883-48877383 Neighboring gene synaptogyrin 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10878 Neighboring gene KDEL endoplasmic reticulum protein retention receptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48899313-48899496 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2D

    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
    • 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. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    2. ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ. Rayner SL, et al. Hum Mol Genet, 2021 May 31. PMID 33729478
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article
    4. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. Choi JH, et al. Science, 2019 May 10. PMID 31073040, Free PMC Article
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10922

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 143

    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_001303538.2 → NP_001290467.1  transmembrane protein 143 isoform b

      See identical proteins and their annotated locations for NP_001290467.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC008392, AK297610, AW136519, DC357566
      Consensus CDS
      CCDS77326.1
      UniProtKB/TrEMBL
      B4DMR6, B4DMT0
      Related
      ENSP00000397038.2, ENST00000435956.7
      Conserved Domains (1) summary
      pfam12576
      Location:194 → 316
      DUF3754; Protein of unknown function (DUF3754)

    2. NM_001303539.2 → NP_001290468.1  transmembrane protein 143 isoform c

      See identical proteins and their annotated locations for NP_001290468.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AC008392, AK298317, AW136519, DC357566
      UniProtKB/TrEMBL
      B4DPF8
      Conserved Domains (1) summary
      pfam12576
      Location:164 → 286
      DUF3754; Protein of unknown function (DUF3754)

    3. NM_001303540.2 → NP_001290469.1  transmembrane protein 143 isoform d

      See identical proteins and their annotated locations for NP_001290469.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two in-frame exons in the 5' coding region compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AC008392, AW136519, AY358161, DC357566
      Consensus CDS
      CCDS77325.1
      UniProtKB/Swiss-Prot
      Q96AN5
      Related
      ENSP00000366649.1, ENST00000377431.6
      Conserved Domains (1) summary
      pfam12576
      Location:129 → 251
      DUF3754; Protein of unknown function (DUF3754)

    4. NM_018273.4 → NP_060743.2  transmembrane protein 143 isoform a

      See identical proteins and their annotated locations for NP_060743.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC008392, AW136519, BC016919, DC357566
      Consensus CDS
      CCDS12716.1
      UniProtKB/Swiss-Prot
      A8K656, Q6UXY4, Q96AN5, Q9NV49
      Related
      ENSP00000293261.2, ENST00000293261.8
      Conserved Domains (1) summary
      pfam12576
      Location:229 → 351
      DUF3754; Protein of unknown function (DUF3754)

    RNA

    1. NR_130317.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008392, AC020955, AK297591, AW136519, DC357566

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48332356..48363940 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51326502..51358084 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AN5.1 GenPept UniProtKB/Swiss-Prot:Q96AN5

    Gene LinkOut

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

    Chemical Information
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