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TCAIM T cell activation inhibitor, mitochondrial [ Homo sapiens (human) ]

Gene ID: 285343, updated on 16-Apr-2024

Summary

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Official Symbol
TCAIMprovided by HGNC
Official Full Name
T cell activation inhibitor, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:25241
See related
Ensembl:ENSG00000179152 MIM:620787; AllianceGenome:HGNC:25241
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
TOAG1; TOAG-1; C3orf23
Summary
Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 7.5), liver (RPKM 6.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p21.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (44338129..44409448)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (44353987..44425287)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (44379621..44450940)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44155749-44156248 Neighboring gene microRNA 138-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19761 Neighboring gene testis and ovary specific TOPAZ 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:44331483-44332682 Neighboring gene uncharacterized LOC105377055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:44379271-44379924 Neighboring gene MPRA-validated peak4626 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr3:44420112-44420270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19763 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:44482886-44483092 Neighboring gene long intergenic non-protein coding RNA 694 Neighboring gene long intergenic non-protein coding RNA 1988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14264 Neighboring gene zinc finger protein 445

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. The mitochondrial protein TCAIM regulates activation of T cells and thereby promotes tolerance induction of allogeneic transplants. Schumann J, et al. Am J Transplant, 2014 Dec. PMID 25363083
  2. Expansion of memory-type CD8+ T cells correlates with the failure of early immunosuppression withdrawal after cadaver liver transplantation using high-dose ATG induction and rapamycin. Donckier V, et al. Transplantation, 2013 Aug 15. PMID 23799424
  3. B-cell-related biomarkers of tolerance are up-regulated in rejection-free kidney transplant recipients. Viklicky O, et al. Transplantation, 2013 Jan 15. PMID 23222918
  4. Cutting Edge: Immunological consequences and trafficking of human regulatory macrophages administered to renal transplant recipients. Hutchinson JA, et al. J Immunol, 2011 Sep 1. PMID 21804023
  5. Expression of tolerance associated gene-1, a mitochondrial protein inhibiting T cell activation, can be used to predict response to immune modulating therapies. Keeren K, et al. J Immunol, 2009 Sep 15. PMID 19684086

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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

  • FLJ41686, MGC119530, MGC119531, MGC119532, MGC119533, DKFZp313N0621

Gene Ontology Provided by GOA

Component Evidence Code Pubs
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
T-cell activation inhibitor, mitochondrial
Names
tolerance associated gene-1 protein

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_001029839.3 → NP_001025010.1  T-cell activation inhibitor, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001025010.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    BC038420
    Consensus CDS
    CCDS43076.1
    Related
    ENSP00000379388.3, ENST00000396078.7
    Conserved Domains (1) summary
    pfam14687
    Location:24 → 55
    DUF4460; Domain of unknown function (DUF4460)

  2. NM_001029840.3 → NP_001025011.1  T-cell activation inhibitor, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001025011.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks several exons, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    BC009400, BC038420, DC413255
    Consensus CDS
    CCDS43076.1
    Related
    ENSP00000373252.3, ENST00000383746.7
    Conserved Domains (1) summary
    pfam14687
    Location:24 → 55
    DUF4460; Domain of unknown function (DUF4460)

  3. NM_001282913.2 → NP_001269842.1  T-cell activation inhibitor, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001269842.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Both variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AK292756, AL832473, BC047231, BC101059
    Consensus CDS
    CCDS2712.1
    UniProtKB/Swiss-Prot
    A8K9P1, Q0P5T9, Q495R1, Q495R3, Q4G0M4, Q6GMU8, Q8N3R3
    Related
    ENSP00000402581.1, ENST00000417237.5
    Conserved Domains (2) summary
    pfam14687
    Location:24 → 128
    DUF4460; Domain of unknown function (DUF4460)
    pfam14688
    Location:189 → 489
    DUF4461; Domain of unknown function (DUF4461)

  4. NM_001282914.2 → NP_001269843.1  T-cell activation inhibitor, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001269843.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform.
    Source sequence(s)
    AL832473, BC038420, BC047231
    UniProtKB/Swiss-Prot
    Q8N3R3
    Conserved Domains (1) summary
    pfam14688
    Location:45 → 345
    DUF4461; Domain of unknown function (DUF4461)

  5. NM_001282915.2 → NP_001269844.1  T-cell activation inhibitor, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001269844.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform.
    Source sequence(s)
    AK292756, AL832473, BC047231, CN372173
    UniProtKB/Swiss-Prot
    Q8N3R3
    Conserved Domains (1) summary
    pfam14688
    Location:45 → 345
    DUF4461; Domain of unknown function (DUF4461)

  6. NM_173826.4 → NP_776187.2  T-cell activation inhibitor, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_776187.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 4 encode the same isoform.
    Source sequence(s)
    AL833118, BC038420, BC047231, BC101060
    Consensus CDS
    CCDS2712.1
    UniProtKB/Swiss-Prot
    A8K9P1, Q0P5T9, Q495R1, Q495R3, Q4G0M4, Q6GMU8, Q8N3R3
    Related
    ENSP00000341539.4, ENST00000342649.9
    Conserved Domains (2) summary
    pfam14687
    Location:24 → 128
    DUF4460; Domain of unknown function (DUF4460)
    pfam14688
    Location:189 → 489
    DUF4461; Domain of unknown function (DUF4461)

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    44338129..44409448
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448023.1 → XP_047303979.1  T-cell activation inhibitor, mitochondrial isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    44353987..44425287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346325.1 → XP_054202300.1  T-cell activation inhibitor, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N3R3.2 GenPept UniProtKB/Swiss-Prot:Q8N3R3

Gene LinkOut

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

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