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

    Gene ID: 55761, updated on 28-Oct-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, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.5), ovary (RPKM 10.5) and 25 other tissues See more
    Orthologs
    mouse all
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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 (44) 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)

    Genotypes

    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

    Gene LinkOut

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

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