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TMEM143 transmembrane protein 143 [ Homo sapiens (human) ]

Gene ID: 55260, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 9.0), fat (RPKM 4.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48332356..48363940, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51326502..51358084, complement)
105.20220307 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 (16) 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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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

  • 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
  
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_2023_10

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.

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