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

    Gene ID: 55761, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    tetratricopeptide repeat protein 17
    Names
    TPR repeat protein 17

    NCBI Reference Sequences (RefSeq)

    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_001307943.2NP_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:689718
      TPR; Tetratricopeptide repeats
      sd00006
      Location:621647
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:658718
      TPR_11; TPR repeat
      pfam13424
      Location:621684
      TPR_12; Tetratricopeptide repeat
      cd16269
      Location:379390
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:329410
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. NM_001376525.1NP_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:563718
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:621647
      TPR; TPR repeat [structural motif]
      cd16269
      Location:379390
      GBP_C; coiled coil [structural motif]
      pfam00515
      Location:297328
      TPR_1; Tetratricopeptide repeat
      cl20817
      Location:329410
      GBP_C; Guanylate-binding protein, C-terminal domain
    3. NM_001376526.1NP_001363455.1  tetratricopeptide repeat protein 17 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC023085, AC087276
      Conserved Domains (5) summary
      COG0457
      Location:533688
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:591617
      TPR; TPR repeat [structural motif]
      cd16269
      Location:349360
      GBP_C; coiled coil [structural motif]
      pfam00515
      Location:267298
      TPR_1; Tetratricopeptide repeat
      cl20817
      Location:299380
      GBP_C; Guanylate-binding protein, C-terminal domain
    4. NM_001376527.1NP_001363456.1  tetratricopeptide repeat protein 17 isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AC023085, AC087276
      Conserved Domains (2) summary
      COG0457
      Location:425580
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:483509
      TPR; TPR repeat [structural motif]
    5. NM_001376528.1NP_001363457.1  tetratricopeptide repeat protein 17 isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC023085, AC087276
      Conserved Domains (2) summary
      COG0457
      Location:340495
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:398424
      TPR; TPR repeat [structural motif]
    6. NM_018259.6NP_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:689718
      TPR; Tetratricopeptide repeats
      sd00006
      Location:621647
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:10881118
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:10541116
      TPR_11; TPR repeat
      pfam13424
      Location:621684
      TPR_12; Tetratricopeptide repeat
      cd16269
      Location:379390
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:329410
      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_011520218.3XP_011518520.1  tetratricopeptide repeat protein 17 isoform X2

      UniProtKB/TrEMBL
      Q9NV73
      Conserved Domains (6) summary
      smart00028
      Location:689718
      TPR; Tetratricopeptide repeats
      sd00006
      Location:621647
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:658718
      TPR_11; TPR repeat
      pfam13424
      Location:621684
      TPR_12; Tetratricopeptide repeat
      cd16269
      Location:379390
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:329410
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. XM_047427254.1XP_047283210.1  tetratricopeptide repeat protein 17 isoform X3

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

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

      Conserved Domains (5) summary
      COG0457
      Location:506661
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:564590
      TPR; TPR repeat [structural motif]
      cd16269
      Location:322333
      GBP_C; coiled coil [structural motif]
      pfam00515
      Location:240271
      TPR_1; Tetratricopeptide repeat
      cl20817
      Location:272353
      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_054369348.1XP_054225323.1  tetratricopeptide repeat protein 17 isoform X2

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

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

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