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    TTC31 tetratricopeptide repeat domain 31 [ Homo sapiens (human) ]

    Gene ID: 64427, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TTC31provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 31provided by HGNC
    Primary source
    HGNC:HGNC:25759
    See related
    Ensembl:ENSG00000115282 AllianceGenome:HGNC:25759
    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
    Expression
    Ubiquitous expression in duodenum (RPKM 9.8), lymph node (RPKM 9.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TTC31 in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74483081..74494559)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74491645..74503123)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74710208..74721686)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16061 Neighboring gene mitochondrial ribosomal protein L53 Neighboring gene coiled-coil domain containing 142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16066 Neighboring gene ladybird homeobox 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74729628-74730252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74730253-74730878 Neighboring gene LBX2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74734085-74735015 Neighboring gene polycomb group ring finger 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. [Novel bidirectional promoter from human genome]. Orekhova AS, et al. Mol Biol (Mosk), 2011 May-Jun. PMID 21790010
    2. Genome-Wide CRISPR-Cas9 Screens Expose Genetic Vulnerabilities and Mechanisms of Temozolomide Sensitivity in Glioblastoma Stem Cells. MacLeod G, et al. Cell Rep, 2019 Apr 16. PMID 30995489
    3. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. Vizeacoumar FJ, et al. Mol Syst Biol, 2013 Oct 8. PMID 24104479, Free PMC Article
    4. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
    5. Mutual regulation between OGT and XIAP to control colon cancer cell growth and invasion. Seo HG, et al. Cell Death Dis, 2020 Sep 29. PMID 32994395, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • FLJ12788, FLJ33201, MGC120200

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 31
    Names
    TPR repeat protein 31

    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_001376129.1 → NP_001363058.1  tetratricopeptide repeat protein 31 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (b).
      Source sequence(s)
      AC005041
      UniProtKB/TrEMBL
      Q86XF2
      Conserved Domains (2) summary
      PLN03088
      Location:342 → 415
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:323 → 351
      TPR; TPR repeat [structural motif]

    2. NM_001376130.1 → NP_001363059.1  tetratricopeptide repeat protein 31 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC005041
      UniProtKB/TrEMBL
      Q86XF2
      Conserved Domains (2) summary
      PLN03088
      Location:324 → 397
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:305 → 333
      TPR; TPR repeat [structural motif]

    3. NM_001376132.1 → NP_001363061.1  tetratricopeptide repeat protein 31 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC005041
      UniProtKB/TrEMBL
      Q86XF2
      Conserved Domains (2) summary
      PLN03088
      Location:322 → 395
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:303 → 331
      TPR; TPR repeat [structural motif]

    4. NM_001376133.1 → NP_001363062.1  tetratricopeptide repeat protein 31 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC005041
      UniProtKB/TrEMBL
      Q86XF2
      Conserved Domains (2) summary
      PLN03088
      Location:322 → 395
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:303 → 331
      TPR; TPR repeat [structural motif]

    5. NM_001376134.1 → NP_001363063.1  tetratricopeptide repeat protein 31 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC005041
      UniProtKB/TrEMBL
      Q86XF2
      Conserved Domains (2) summary
      PLN03088
      Location:253 → 326
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:234 → 262
      TPR; TPR repeat [structural motif]

    6. NM_001376135.1 → NP_001363064.1  tetratricopeptide repeat protein 31 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC005041
      UniProtKB/TrEMBL
      Q86XF2
      Conserved Domains (2) summary
      PLN03088
      Location:251 → 324
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:232 → 260
      TPR; TPR repeat [structural motif]

    7. NM_001376136.1 → NP_001363065.1  tetratricopeptide repeat protein 31 isoform h

      Status: VALIDATED

      Source sequence(s)
      AC005041
      UniProtKB/TrEMBL
      G5E9H3
      Conserved Domains (2) summary
      PLN03088
      Location:324 → 397
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:305 → 333
      TPR; TPR repeat [structural motif]

    8. NM_001376137.1 → NP_001363066.1  tetratricopeptide repeat protein 31 isoform i

      Status: VALIDATED

      Source sequence(s)
      AC005041
      UniProtKB/TrEMBL
      G5E9H3
      Conserved Domains (2) summary
      PLN03088
      Location:324 → 397
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:305 → 333
      TPR; TPR repeat [structural motif]

    9. NM_001376138.1 → NP_001363067.1  tetratricopeptide repeat protein 31 isoform j

      Status: VALIDATED

      Source sequence(s)
      AC005041
      Conserved Domains (2) summary
      PLN03088
      Location:200 → 273
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:181 → 209
      TPR; TPR repeat [structural motif]

    10. NM_001376139.1 → NP_001363068.1  tetratricopeptide repeat protein 31 isoform k

      Status: VALIDATED

      Source sequence(s)
      AC005041
      Conserved Domains (2) summary
      PLN03088
      Location:180 → 253
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:161 → 189
      TPR; TPR repeat [structural motif]

    11. NM_001376140.1 → NP_001363069.1  tetratricopeptide repeat protein 31 isoform l

      Status: VALIDATED

      Source sequence(s)
      AC005041
      Conserved Domains (2) summary
      PLN03088
      Location:178 → 251
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:159 → 187
      TPR; TPR repeat [structural motif]

    12. NM_001376141.1 → NP_001363070.1  tetratricopeptide repeat protein 31 isoform m

      Status: VALIDATED

      Source sequence(s)
      AC005041
      Conserved Domains (2) summary
      PLN03088
      Location:182 → 255
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:163 → 191
      TPR; TPR repeat [structural motif]

    13. NM_001376144.1 → NP_001363073.1  tetratricopeptide repeat protein 31 isoform n

      Status: VALIDATED

      Source sequence(s)
      AC005041
      Conserved Domains (2) summary
      PLN03088
      Location:152 → 225
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:133 → 161
      TPR; TPR repeat [structural motif]

    14. NM_001376145.1 → NP_001363074.1  tetratricopeptide repeat protein 31 isoform o

      Status: VALIDATED

      Source sequence(s)
      AC005041
      Conserved Domains (2) summary
      PLN03088
      Location:180 → 244
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:161 → 189
      TPR; TPR repeat [structural motif]

    15. NM_022492.6 → NP_071937.4  tetratricopeptide repeat protein 31 isoform a

      See identical proteins and their annotated locations for NP_071937.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AC005041
      Consensus CDS
      CCDS42701.1
      UniProtKB/Swiss-Prot
      Q49AM3, Q4KN40, Q53FD4, Q9H9F7
      UniProtKB/TrEMBL
      Q86XF2
      Related
      ENSP00000233623.6, ENST00000233623.11
      Conserved Domains (2) summary
      PLN03088
      Location:324 → 397
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:305 → 333
      TPR; TPR repeat [structural motif]

    RNA

    1. NR_027749.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon, 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)
      AC005041
      Related
      ENST00000424122.5

    2. NR_164770.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005041

    3. NR_164771.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005041

    4. NR_164772.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005041

    5. NR_164773.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005041

    6. NR_164774.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005041

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      74483081..74494559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533035.2 → XP_011531337.1  tetratricopeptide repeat protein 31 isoform X1

      UniProtKB/TrEMBL
      Q86XF2
      Conserved Domains (2) summary
      sd00006
      Location:325 → 353
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:324 → 390
      TPR_11; TPR repeat

    2. XM_047445421.1 → XP_047301377.1  tetratricopeptide repeat protein 31 isoform X6

    3. XM_047445422.1 → XP_047301378.1  tetratricopeptide repeat protein 31 isoform X7

      UniProtKB/TrEMBL
      Q4KMS4

    4. XM_047445423.1 → XP_047301379.1  tetratricopeptide repeat protein 31 isoform X8

      UniProtKB/TrEMBL
      G5E9H3
      Related
      ENSP00000387213.1, ENST00000410003.5

    5. XM_047445424.1 → XP_047301380.1  tetratricopeptide repeat protein 31 isoform X9

      UniProtKB/TrEMBL
      G5E9H3
      Related
      ENSP00000416823.3, ENST00000442235.6

    6. XM_047445419.1 → XP_047301375.1  tetratricopeptide repeat protein 31 isoform X4

      UniProtKB/TrEMBL
      Q86XF2

    7. XM_047445417.1 → XP_047301373.1  tetratricopeptide repeat protein 31 isoform X2

      UniProtKB/TrEMBL
      Q86XF2

    8. XM_047445418.1 → XP_047301374.1  tetratricopeptide repeat protein 31 isoform X3

      UniProtKB/TrEMBL
      Q86XF2

    9. XM_047445420.1 → XP_047301376.1  tetratricopeptide repeat protein 31 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74491645..74503123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343379.1 → XP_054199354.1  tetratricopeptide repeat protein 31 isoform X1

      UniProtKB/TrEMBL
      Q86XF2

    2. XM_054343384.1 → XP_054199359.1  tetratricopeptide repeat protein 31 isoform X6

    3. XM_054343385.1 → XP_054199360.1  tetratricopeptide repeat protein 31 isoform X7

      UniProtKB/TrEMBL
      Q4KMS4

    4. XM_054343386.1 → XP_054199361.1  tetratricopeptide repeat protein 31 isoform X8

      UniProtKB/TrEMBL
      G5E9H3

    5. XM_054343387.1 → XP_054199362.1  tetratricopeptide repeat protein 31 isoform X9

      UniProtKB/TrEMBL
      G5E9H3

    6. XM_054343382.1 → XP_054199357.1  tetratricopeptide repeat protein 31 isoform X4

      UniProtKB/TrEMBL
      Q86XF2

    7. XM_054343380.1 → XP_054199355.1  tetratricopeptide repeat protein 31 isoform X2

      UniProtKB/TrEMBL
      Q86XF2

    8. XM_054343381.1 → XP_054199356.1  tetratricopeptide repeat protein 31 isoform X3

      UniProtKB/TrEMBL
      Q86XF2

    9. XM_054343383.1 → XP_054199358.1  tetratricopeptide repeat protein 31 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q49AM3.3 GenPept UniProtKB/Swiss-Prot:Q49AM3

    Gene LinkOut

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