TMEM143 transmembrane protein 143 [Homo sapiens (human)] - Gene (original) (raw)

S I D E B A R

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

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Exon count:

8

Chromosome 19 - NC_000019.10

• Project title: Tissue-specific circular RNA induction during human fetal development
• Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
• BioProject: PRJNA270632
• Publication:PMID 26076956
• Analysis date: Mon Apr 2 22:54:59 2018

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

Preferred Names

transmembrane protein 143

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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](#geneGenomic 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](/nuccore/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](/nuccore/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](/nuccore/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](/nuccore/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](/nuccore/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

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

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)