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    TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 [ Homo sapiens (human) ]

    Gene ID: 9881, updated on 7-Apr-2024

    Summary

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    Official Symbol
    TRANK1provided by HGNC
    Official Full Name
    tetratricopeptide repeat and ankyrin repeat containing 1provided by HGNC
    Primary source
    HGNC:HGNC:29011
    See related
    Ensembl:ENSG00000168016 MIM:619316; AllianceGenome:HGNC:29011
    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
    LBA1
    Summary
    Predicted to enable ATP binding activity. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in endometrium (RPKM 7.0), lymph node (RPKM 6.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3p22.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (36826819..36945744, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (36828168..36947110, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (36868310..36986545, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377030 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:36863988-36864163 Neighboring gene long intergenic non-protein coding RNA 2033 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:36899292-36899475 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:36907187-36907362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19661 Neighboring gene CBX3 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19664 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:36952104-36952272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19665 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:36964989-36965490 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:36965491-36965990 Neighboring gene Sharpr-MPRA regulatory region 3248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19666 Neighboring gene CRISPRi-validated cis-regulatory element chr3.1267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19668 Neighboring gene RNA, U6atac small nuclear 4, pseudogene Neighboring gene protease associated domain containing 1 pseudogene 1

    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. New Evidence of Gut Microbiota Involvement in the Neuropathogenesis of Bipolar Depression by TRANK1 Modulation: Joint Clinical and Animal Data. Lai J, et al. Front Immunol, 2021. PMID 34992606, Free PMC Article
    2. Impaired blood-brain barrier in the microbiota-gut-brain axis: Potential role of bipolar susceptibility gene TRANK1. Lai J, et al. J Cell Mol Med, 2021 Jul. PMID 34014031, Free PMC Article
    3. Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci. Ambati A, et al. Proc Natl Acad Sci U S A, 2021 Mar 23. PMID 33737391, Free PMC Article
    4. Independent replications and integrative analyses confirm TRANK1 as a susceptibility gene for bipolar disorder. Li W, et al. Neuropsychopharmacology, 2021 May. PMID 32791513, Free PMC Article
    5. Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. Chen DT, et al. Mol Psychiatry, 2013 Feb. PMID 22182935

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. New Evidence of Gut Microbiota Involvement in the Neuropathogenesis of Bipolar Depression by TRANK1 Modulation: Joint Clinical and Animal Data.
      Title: New Evidence of Gut Microbiota Involvement in the Neuropathogenesis of Bipolar Depression by TRANK1 Modulation: Joint Clinical and Animal Data.
    2. Impaired blood-brain barrier in the microbiota-gut-brain axis: Potential role of bipolar susceptibility gene TRANK1.
      Title: Impaired blood-brain barrier in the microbiota-gut-brain axis: Potential role of bipolar susceptibility gene TRANK1.
    3. Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci.
      Title: Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci.
    4. Independent replications and integrative analyses confirm TRANK1 as a susceptibility gene for bipolar disorder.
      Title: Independent replications and integrative analyses confirm TRANK1 as a susceptibility gene for bipolar disorder.
    5. The results of this study suggested that significant novel association signals near the genes TRANK1 and provide supportive evidence for the previously reported association signals near ANK3 and within the 3p21.1 locus.
      Title: Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder.
    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association of mood-incongruent psychotic bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study reveals two new risk loci for bipolar disorder.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog
    Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
    EBI GWAS Catalog

    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

    • KIAA0342

    General protein information

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    Preferred Names
    TPR and ankyrin repeat-containing protein 1
    Names
    lupus brain antigen 1 homolog

    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_001329998.2 → NP_001316927.1  TPR and ankyrin repeat-containing protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC011816, AC097360, AC105749
      Consensus CDS
      CCDS87061.1
      UniProtKB/TrEMBL
      A0A2R8YEM9
      Related
      ENSP00000494480.1, ENST00000645898.2
      Conserved Domains (5) summary
      cd00204
      Location:514 → 633
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00006
      Location:15 → 43
      TPR; TPR repeat [structural motif]
      pfam12796
      Location:517 → 625
      Ank_2; Ankyrin repeats (3 copies)
      pfam13414
      Location:15 → 90
      TPR_11; TPR repeat
      sd00045
      Location:246 → 282
      ANK; ANK repeat [structural motif]

    2. NM_014831.3 → NP_055646.2  TPR and ankyrin repeat-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_055646.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB002340, AC011816, AC097360, AC105749, BG750754, BG960452, BQ024165, CD698859, CN482191, EG328357, EG328358
      Consensus CDS
      CCDS46789.2
      UniProtKB/Swiss-Prot
      O15050, Q8N8K0
      Related
      ENSP00000416168.2, ENST00000429976.5
      Conserved Domains (5) summary
      cd00204
      Location:470 → 589
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00006
      Location:13 → 44
      TPR; TPR repeat [structural motif]
      pfam12796
      Location:473 → 581
      Ank_2; Ankyrin repeats (3 copies)
      pfam13414
      Location:15 → 78
      TPR_11; TPR repeat
      sd00045
      Location:202 → 238
      ANK; ANK repeat [structural motif]

    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
      36826819..36945744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007570.2 → XP_016863059.1  TPR and ankyrin repeat-containing protein 1 isoform X3

    2. XM_047449328.1 → XP_047305284.1  TPR and ankyrin repeat-containing protein 1 isoform X4

    3. XM_047449326.1 → XP_047305282.1  TPR and ankyrin repeat-containing protein 1 isoform X2

    4. XM_047449325.1 → XP_047305281.1  TPR and ankyrin repeat-containing protein 1 isoform X1

    5. XM_011534289.3 → XP_011532591.1  TPR and ankyrin repeat-containing protein 1 isoform X1

      Conserved Domains (5) summary
      cd00204
      Location:515 → 634
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00006
      Location:16 → 44
      TPR; TPR repeat [structural motif]
      pfam12796
      Location:518 → 626
      Ank_2; Ankyrin repeats (3 copies)
      pfam13414
      Location:16 → 91
      TPR_11; TPR repeat
      sd00045
      Location:247 → 283
      ANK; ANK repeat [structural motif]

    6. XM_047449327.1 → XP_047305283.1  TPR and ankyrin repeat-containing protein 1 isoform X2

    7. XM_047449329.1 → XP_047305285.1  TPR and ankyrin repeat-containing protein 1 isoform X5

    8. XM_047449330.1 → XP_047305286.1  TPR and ankyrin repeat-containing protein 1 isoform X6

    9. XM_017007573.2 → XP_016863062.1  TPR and ankyrin repeat-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A2R8Y8A3

    10. XM_047449331.1 → XP_047305287.1  TPR and ankyrin repeat-containing protein 1 isoform X8

    11. XM_047449332.1 → XP_047305288.1  TPR and ankyrin repeat-containing protein 1 isoform X9

      Related
      ENSP00000496771.1, ENST00000646897.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      36828168..36947110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348592.1 → XP_054204567.1  TPR and ankyrin repeat-containing protein 1 isoform X3

    2. XM_054348593.1 → XP_054204568.1  TPR and ankyrin repeat-containing protein 1 isoform X4

    3. XM_054348590.1 → XP_054204565.1  TPR and ankyrin repeat-containing protein 1 isoform X2

    4. XM_054348589.1 → XP_054204564.1  TPR and ankyrin repeat-containing protein 1 isoform X1

    5. XM_054348588.1 → XP_054204563.1  TPR and ankyrin repeat-containing protein 1 isoform X1

    6. XM_054348591.1 → XP_054204566.1  TPR and ankyrin repeat-containing protein 1 isoform X2

    7. XM_054348594.1 → XP_054204569.1  TPR and ankyrin repeat-containing protein 1 isoform X6

    8. XM_054348595.1 → XP_054204570.1  TPR and ankyrin repeat-containing protein 1 isoform X7

    RNA

    1. XR_008486871.1 RNA Sequence

    2. XR_008486872.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15050.4 GenPept UniProtKB/Swiss-Prot:O15050

    Gene LinkOut

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