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

    Gene ID: 285343, updated on 27-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 7.5), liver (RPKM 6.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TCAIM in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (44338129..44409448)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (44353987..44425287)
    RS_2024_09 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 (19) 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)

    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
    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
    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_2024_08

    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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