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

    Gene ID: 9881, updated on 3-Dec-2024

    Summary

    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
    Expression
    Ubiquitous expression in endometrium (RPKM 7.0), lymph node (RPKM 6.9) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TRANK1 in Genome Data Viewer
    Location:
    3p22.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (36826819..36945744, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (36828168..36947110, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001329998.2NP_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:514633
      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:1543
      TPR; TPR repeat [structural motif]
      pfam12796
      Location:517625
      Ank_2; Ankyrin repeats (3 copies)
      pfam13414
      Location:1590
      TPR_11; TPR repeat
      sd00045
      Location:246282
      ANK; ANK repeat [structural motif]
    2. NM_014831.3NP_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:470589
      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:1344
      TPR; TPR repeat [structural motif]
      pfam12796
      Location:473581
      Ank_2; Ankyrin repeats (3 copies)
      pfam13414
      Location:1578
      TPR_11; TPR repeat
      sd00045
      Location:202238
      ANK; ANK repeat [structural motif]

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

    mRNA and Protein(s)

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

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

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

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

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

      Conserved Domains (5) summary
      cd00204
      Location:515634
      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:1644
      TPR; TPR repeat [structural motif]
      pfam12796
      Location:518626
      Ank_2; Ankyrin repeats (3 copies)
      pfam13414
      Location:1691
      TPR_11; TPR repeat
      sd00045
      Location:247283
      ANK; ANK repeat [structural motif]
    6. XM_047449327.1XP_047305283.1  TPR and ankyrin repeat-containing protein 1 isoform X2

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

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

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

      UniProtKB/TrEMBL
      A0A2R8Y8A3
    10. XM_047449331.1XP_047305287.1  TPR and ankyrin repeat-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      A0A2R8Y8A3
    11. XM_047449332.1XP_047305288.1  TPR and ankyrin repeat-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      A0A2R8Y8A3
      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_054348592.1XP_054204567.1  TPR and ankyrin repeat-containing protein 1 isoform X3

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

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

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

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

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

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

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

      UniProtKB/TrEMBL
      A0A2R8Y8A3

    RNA

    1. XR_008486871.1 RNA Sequence

    2. XR_008486872.1 RNA Sequence