U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TTC27 tetratricopeptide repeat domain 27 [ Homo sapiens (human) ]

Gene ID: 55622, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
TTC27provided by HGNC
Official Full Name
tetratricopeptide repeat domain 27provided by HGNC
Primary source
HGNC:HGNC:25986
See related
Ensembl:ENSG00000018699 AllianceGenome:HGNC:25986
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 testis (RPKM 8.0), thyroid (RPKM 6.7) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
2p22.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (32628050..32821051)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (32676701..32869813)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (32853117..33046118)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene baculoviral IAP repeat containing 6 Neighboring gene BIRC6 antisense RNA 2 Neighboring gene uncharacterized LOC124905985 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:32852317-32852978 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:32852979-32853638 Neighboring gene microRNA 4765 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:32962230-32963429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15561 Neighboring gene Sharpr-MPRA regulatory region 12694 Neighboring gene long intergenic non-protein coding RNA 486 Neighboring gene Sharpr-MPRA regulatory region 6729 Neighboring gene uncharacterized LOC105374453 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:33111152-33111352

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Multiple loci influencing hippocampal degeneration identified by genome scan. Melville SA, et al. Ann Neurol, 2012 Jul. PMID 22745009, Free PMC Article
  2. FBXL12-Mediated Degradation of ALDH3 is Essential for Trophoblast Differentiation During Placental Development. Nishiyama M, et al. Stem Cells, 2015 Nov. PMID 26124079
  3. SUMO-specific protease 2 (SENP2) suppresses keratinocyte migration by targeting NDR1 for de-SUMOylation. Xiao N, et al. FASEB J, 2019 Jan. PMID 29969578
  4. CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI. Hu WF, et al. Cell Death Discov, 2019. PMID 31240132, Free PMC Article
  5. Tumor-derived neomorphic mutations in ASXL1 impairs the BAP1-ASXL1-FOXK1/K2 transcription network. Xia YK, et al. Protein Cell, 2021 Jul. PMID 32683582, Free PMC Article

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Multiple loci influencing hippocampal degeneration identified by genome scan.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ20272

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

Go to the top of the page Help
Preferred Names
tetratricopeptide repeat protein 27
Names
TPR repeat protein 27

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_001193509.2 → NP_001180438.1  tetratricopeptide repeat protein 27 isoform 2

    See identical proteins and their annotated locations for NP_001180438.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different splice site in its first exon, which results in the use of a downstream, in-frame, start codon, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus when it is compared to isoform 1.
    Source sequence(s)
    AL121656, AL133246
    UniProtKB/TrEMBL
    B4DRC7
    Conserved Domains (3) summary
    sd00006
    Location:477 → 505
    TPR; TPR repeat [structural motif]
    pfam07719
    Location:513 → 544
    TPR_2; Tetratricopeptide repeat
    pfam13414
    Location:513 → 575
    TPR_11; TPR repeat

  2. NM_017735.5 → NP_060205.3  tetratricopeptide repeat protein 27 isoform 1

    See identical proteins and their annotated locations for NP_060205.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AL121656, AL133246
    Consensus CDS
    CCDS33176.1
    UniProtKB/Swiss-Prot
    A6NKJ0, Q6P3X3, Q96SS5, Q9BVF1, Q9NWR4, Q9NXG4
    Related
    ENSP00000313953.4, ENST00000317907.9
    Conserved Domains (2) summary
    COG0457
    Location:475 → 631
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:527 → 555
    TPR; TPR 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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    32628050..32821051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532958.3 → XP_011531260.1  tetratricopeptide repeat protein 27 isoform X1

    Conserved Domains (2) summary
    sd00006
    Location:527 → 555
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:526 → 592
    TPR_11; TPR repeat

  2. XM_005264416.3 → XP_005264473.1  tetratricopeptide repeat protein 27 isoform X2

    Conserved Domains (3) summary
    sd00006
    Location:486 → 514
    TPR; TPR repeat [structural motif]
    pfam07719
    Location:522 → 553
    TPR_2; Tetratricopeptide repeat
    pfam13414
    Location:522 → 584
    TPR_11; TPR repeat

  3. XM_047444937.1 → XP_047300893.1  tetratricopeptide repeat protein 27 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    32676701..32869813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342863.1 → XP_054198838.1  tetratricopeptide repeat protein 27 isoform X1

  2. XM_054342864.1 → XP_054198839.1  tetratricopeptide repeat protein 27 isoform X2

  3. XM_054342865.1 → XP_054198840.1  tetratricopeptide repeat protein 27 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P3X3.1 GenPept UniProtKB/Swiss-Prot:Q6P3X3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous