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

Gene ID: 64427, updated on 3-Apr-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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Location:
2p13.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74483081..74494559)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74491645..74503123)
105.20220307 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 (15) 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)

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

  • 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_2023_10

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

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

    Related
    ENSP00000387213.1, ENST00000410003.5

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

    Related
    ENSP00000416823.3, ENST00000442235.6

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

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

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

  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

  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

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

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

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

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

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

  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

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