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

Gene ID: 55761, updated on 17-Nov-2019

Summary

Official Symbol
TTC17provided by HGNC
Official Full Name
tetratricopeptide repeat domain 17provided by HGNC
Primary source
HGNC:HGNC:25596
See related
Ensembl:ENSG00000052841
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 thyroid (RPKM 14.5), ovary (RPKM 10.5) and 25 other tissues See more
Orthologs

Genomic context

See TTC17 in Genome Data Viewer
Location:
11p12-p11.2
Exon count:
26
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (43358885..43494931)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (43380435..43516483)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 3 Neighboring gene apoptosis inhibitor 5 Neighboring gene RN7SK pseudogene 287 Neighboring gene peptidyl-prolyl cis-trans isomerase A pseudogene Neighboring gene CTBP2 pseudogene 6 Neighboring gene microRNA 670

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10890, FLJ13099, FLJ23673, DKFZp686D20222

Gene Ontology Provided by GOA

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

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

    See identical proteins and their annotated locations for NP_001294872.1

    Status: VALIDATED

    Source sequence(s)
    AC087276
    Consensus CDS
    CCDS76396.1
    UniProtKB/Swiss-Prot
    Q96AE7
    UniProtKB/TrEMBL
    Q6MZP1
    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

    Status: VALIDATED

    Source sequence(s)
    AC023085, AC087276
  3. NM_001376526.1NP_001363455.1  tetratricopeptide repeat protein 17 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC023085, AC087276
  4. NM_001376527.1NP_001363456.1  tetratricopeptide repeat protein 17 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC023085, AC087276
  5. NM_001376528.1NP_001363457.1  tetratricopeptide repeat protein 17 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC023085, AC087276
  6. NM_018259.6NP_060729.2  tetratricopeptide repeat protein 17 isoform 1

    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
    Q96AE7
    UniProtKB/TrEMBL
    Q49A97
    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: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    43358885..43494931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253016.1XP_005253073.1  tetratricopeptide repeat protein 17 isoform X1

    Conserved Domains (7) summary
    smart00028
    Location:689718
    TPR; Tetratricopeptide repeats
    sd00006
    Location:621647
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:11451175
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:11111173
    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_011520218.2XP_011518520.1  tetratricopeptide repeat protein 17 isoform X2

    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
  3. XM_017018010.1XP_016873499.1  tetratricopeptide repeat protein 17 isoform X3

  4. XM_006718263.1XP_006718326.1  tetratricopeptide repeat protein 17 isoform X4

    Conserved Domains (7) summary
    smart00028
    Location:459488
    TPR; Tetratricopeptide repeats
    sd00006
    Location:391417
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:915945
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:881943
    TPR_11; TPR repeat
    pfam13424
    Location:391454
    TPR_12; Tetratricopeptide repeat
    cd16269
    Location:149160
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:99180
    GBP_C; Guanylate-binding protein, C-terminal domain

RNA

  1. XR_001747926.1 RNA Sequence

  2. XR_001747925.2 RNA Sequence

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