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TTC17 tetratricopeptide repeat domain 17 [ Homo sapiens (human) ]

Gene ID: 55761, updated on 3-Nov-2024

Summary

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Official Symbol
TTC17provided by HGNC
Official Full Name
tetratricopeptide repeat domain 17provided by HGNC
Primary source
HGNC:HGNC:25596
See related
Ensembl:ENSG00000052841 MIM:619388; AllianceGenome:HGNC:25596
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
Summary
Involved in actin filament polymerization and cilium organization. Located in actin cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 14.5), ovary (RPKM 10.5) and 25 other tissues See more
Orthologs
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Genomic context

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See TTC17 in Genome Data Viewer
Location:
11p12-p11.2
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (43358920..43494931)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (43514345..43650321)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (43380470..43516481)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43290423-43290924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43290925-43291424 Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:43333299-43334074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:43372671-43373334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3267 Neighboring gene apoptosis inhibitor 5 Neighboring gene RN7SK pseudogene 287 Neighboring gene peptidylprolyl isomerase A pseudogene 41 Neighboring gene CTBP2 pseudogene 6 Neighboring gene hydroxysteroid 17-beta dehydrogenase 12 Neighboring gene microRNA 670

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 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. TTC17 is an endoplasmic reticulum resident TPR-containing adaptor protein. Canniff NP, et al. J Biol Chem, 2023 Dec. PMID 37949225, Free PMC Article
  2. New factors for protein transport identified by a genome-wide CRISPRi screen in mammalian cells. Bassaganyas L, et al. J Cell Biol, 2019 Nov 4. PMID 31488582, Free PMC Article
  3. C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human. Bontems F, et al. PLoS One, 2014. PMID 24475127, Free PMC Article
  4. A novel common variant in DCST2 is associated with length in early life and height in adulthood. van der Valk RJ, et al. Hum Mol Genet, 2015 Feb 15. PMID 25281659, Free PMC Article
  5. HIV-host interactome revealed directly from infected cells. Luo Y, et al. Nat Microbiol, 2016 Jul. PMID 27375898, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TTC17 is an endoplasmic reticulum resident TPR-containing adaptor protein.
    Title: TTC17 is an endoplasmic reticulum resident TPR-containing adaptor protein.
  2. TTC17 is localized along the secretory pathway and was found to interact with resident proteins of ER-Golgi membranes.
    Title: New factors for protein transport identified by a genome-wide CRISPRi screen in mammalian cells.
  3. 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

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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
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
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)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TTC17 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10890, FLJ13099, FLJ23673, DKFZp686D20222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actin filament polymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tetratricopeptide repeat protein 17
Names
TPR repeat protein 17

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_001307943.2 → NP_001294872.1  tetratricopeptide repeat protein 17 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001294872.1

    Status: VALIDATED

    Source sequence(s)
    AC087276
    Consensus CDS
    CCDS76396.1
    UniProtKB/TrEMBL
    Q9NV73
    Related
    ENSP00000299240.5, ENST00000299240.10
    Conserved Domains (6) summary
    smart00028
    Location:689 → 718
    TPR; Tetratricopeptide repeats
    sd00006
    Location:621 → 647
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:658 → 718
    TPR_11; TPR repeat
    pfam13424
    Location:621 → 684
    TPR_12; Tetratricopeptide repeat
    cd16269
    Location:379 → 390
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:329 → 410
    GBP_C; Guanylate-binding protein, C-terminal domain

  2. NM_001376525.1 → NP_001363454.1  tetratricopeptide repeat protein 17 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC023085, AC087276
    Consensus CDS
    CCDS91461.1
    UniProtKB/TrEMBL
    A0A994J3X0
    Related
    ENSP00000515494.1, ENST00000703837.1
    Conserved Domains (5) summary
    COG0457
    Location:563 → 718
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:621 → 647
    TPR; TPR repeat [structural motif]
    cd16269
    Location:379 → 390
    GBP_C; coiled coil [structural motif]
    pfam00515
    Location:297 → 328
    TPR_1; Tetratricopeptide repeat
    cl20817
    Location:329 → 410
    GBP_C; Guanylate-binding protein, C-terminal domain

  3. NM_001376526.1 → NP_001363455.1  tetratricopeptide repeat protein 17 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC023085, AC087276
    Conserved Domains (5) summary
    COG0457
    Location:533 → 688
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:591 → 617
    TPR; TPR repeat [structural motif]
    cd16269
    Location:349 → 360
    GBP_C; coiled coil [structural motif]
    pfam00515
    Location:267 → 298
    TPR_1; Tetratricopeptide repeat
    cl20817
    Location:299 → 380
    GBP_C; Guanylate-binding protein, C-terminal domain

  4. NM_001376527.1 → NP_001363456.1  tetratricopeptide repeat protein 17 isoform 5 precursor

    Status: VALIDATED

    Source sequence(s)
    AC023085, AC087276
    Conserved Domains (2) summary
    COG0457
    Location:425 → 580
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:483 → 509
    TPR; TPR repeat [structural motif]

  5. NM_001376528.1 → NP_001363457.1  tetratricopeptide repeat protein 17 isoform 6 precursor

    Status: VALIDATED

    Source sequence(s)
    AC023085, AC087276
    Conserved Domains (2) summary
    COG0457
    Location:340 → 495
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:398 → 424
    TPR; TPR repeat [structural motif]

  6. NM_018259.6 → NP_060729.2  tetratricopeptide repeat protein 17 isoform 1 precursor

    See identical proteins and their annotated locations for NP_060729.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AW070863, BC017238, BC041893, DA106610
    Consensus CDS
    CCDS31466.1
    UniProtKB/Swiss-Prot
    G3XAB3, Q8NEC0, Q96AE7
    Related
    ENSP00000039989.4, ENST00000039989.9
    Conserved Domains (7) summary
    smart00028
    Location:689 → 718
    TPR; Tetratricopeptide repeats
    sd00006
    Location:621 → 647
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:1088 → 1118
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:1054 → 1116
    TPR_11; TPR repeat
    pfam13424
    Location:621 → 684
    TPR_12; Tetratricopeptide repeat
    cd16269
    Location:379 → 390
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:329 → 410
    GBP_C; Guanylate-binding protein, C-terminal domain

RNA

  1. NR_164823.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC023085, AC087276

  2. NR_164824.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC023085, AC087276

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    43358920..43494931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520218.3 → XP_011518520.1  tetratricopeptide repeat protein 17 isoform X2

    UniProtKB/TrEMBL
    Q9NV73
    Conserved Domains (6) summary
    smart00028
    Location:689 → 718
    TPR; Tetratricopeptide repeats
    sd00006
    Location:621 → 647
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:658 → 718
    TPR_11; TPR repeat
    pfam13424
    Location:621 → 684
    TPR_12; Tetratricopeptide repeat
    cd16269
    Location:379 → 390
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:329 → 410
    GBP_C; Guanylate-binding protein, C-terminal domain

  2. XM_047427254.1 → XP_047283210.1  tetratricopeptide repeat protein 17 isoform X3

  3. XM_047427255.1 → XP_047283211.1  tetratricopeptide repeat protein 17 isoform X4

  4. XM_006718263.2 → XP_006718326.2  tetratricopeptide repeat protein 17 isoform X1

    Conserved Domains (5) summary
    COG0457
    Location:506 → 661
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:564 → 590
    TPR; TPR repeat [structural motif]
    cd16269
    Location:322 → 333
    GBP_C; coiled coil [structural motif]
    pfam00515
    Location:240 → 271
    TPR_1; Tetratricopeptide repeat
    cl20817
    Location:272 → 353
    GBP_C; Guanylate-binding protein, C-terminal domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    43514345..43650321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369348.1 → XP_054225323.1  tetratricopeptide repeat protein 17 isoform X2

  2. XM_054369349.1 → XP_054225324.1  tetratricopeptide repeat protein 17 isoform X3

  3. XM_054369350.1 → XP_054225325.1  tetratricopeptide repeat protein 17 isoform X4

  4. XM_054369347.1 → XP_054225322.1  tetratricopeptide repeat protein 17 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96AE7.1 GenPept UniProtKB/Swiss-Prot:Q96AE7

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