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    TTC8 tetratricopeptide repeat domain 8 [ Homo sapiens (human) ]

    Gene ID: 123016, updated on 21-Apr-2019

    Summary

    Official Symbol
    TTC8provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 8provided by HGNC
    Primary source
    HGNC:HGNC:20087
    See related
    Ensembl:ENSG00000165533 MIM:608132
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BBS8; RP51
    Summary
    This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Expression
    Broad expression in ovary (RPKM 24.2), adrenal (RPKM 16.1) and 24 other tissues See more
    Orthologs

    Genomic context

    See TTC8 in Genome Data Viewer
    Location:
    14q31.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (88824153..88877996)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (89290574..89344335)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 14 Neighboring gene EMAP like 5 Neighboring gene RNA, U4 small nuclear 92, pseudogene Neighboring gene uncharacterized LOC105370615 Neighboring gene metallophosphoesterase 1 pseudogene 1

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • BBSome-mediated cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
      BBSome-mediated cargo-targeting to cilium, organism-specific biosystemThe BBSome is a stable complex consisting of 7 Bardet-Biedl proteins (BBS1, 2, 4, 5, 7, 8 and 9) and BBIP10 that has roles in promoting IFT and trafficking proteins to the cilum (Blacque et al, 2004;...
    • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
      Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp686H0432

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II repressing transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    establishment of anatomical structure orientation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    sensory processing TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    tetratricopeptide repeat protein 8
    Names
    Bardet-Biedl syndrome type 8
    TPR repeat protein 8

    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.

    Genomic

    1. NG_008126.2 RefSeqGene

      Range
      5001..58844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288781.1NP_001275710.1  tetratricopeptide repeat protein 8 isoform D

      See identical proteins and their annotated locations for NP_001275710.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (D) is longer, compared to isoform A.
      Source sequence(s)
      BC026351, BU738965, BX247959
      Consensus CDS
      CCDS73674.1
      UniProtKB/Swiss-Prot
      Q8TAM2
      UniProtKB/TrEMBL
      A0A0C4DGX9, Q86U25
      Related
      ENSP00000482306.1, ENST00000614125.4
      Conserved Domains (2) summary
      COG0457
      Location:257514
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:377404
      TPR; TPR repeat [structural motif]
    2. NM_001288782.1NP_001275711.1  tetratricopeptide repeat protein 8 isoform E

      See identical proteins and their annotated locations for NP_001275711.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR, uses an alternate start codon and an alternate splice site in its 5' coding region, and lacks an exon in its 5' coding region, compared to variant 1. The encoded isoform (E) has a shorter and distinct N-terminus, compared to isoform A.
      Source sequence(s)
      BU738965, BX161472, BX247959
      Consensus CDS
      CCDS73675.1
      UniProtKB/Swiss-Prot
      Q8TAM2
      UniProtKB/TrEMBL
      A0A0C4DFT4, Q86U25
      Related
      ENSP00000351439.5, ENST00000358622.9
      Conserved Domains (2) summary
      sd00006
      Location:163190
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:199264
      TPR_11; TPR repeat
    3. NM_001288783.1NP_001275712.1  tetratricopeptide repeat protein 8 isoform F

      See identical proteins and their annotated locations for NP_001275712.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (F) has a shorter N-terminus, compared to isoform A.
      Source sequence(s)
      AK093891, AY366523, BU738965, BX247959
      UniProtKB/Swiss-Prot
      Q8TAM2
      UniProtKB/TrEMBL
      B3KSL8, Q86U25
      Conserved Domains (3) summary
      sd00006
      Location:122149
      TPR; TPR repeat [structural motif]
      pfam13429
      Location:10115
      TPR_15; Tetratricopeptide repeat
      cl26002
      Location:102223
      TPR_11; TPR repeat
    4. NM_001366535.1NP_001353464.1  tetratricopeptide repeat protein 8 isoform G

      Status: REVIEWED

      Source sequence(s)
      AL121768, AL133238
      Conserved Domains (3) summary
      COG0457
      Location:170397
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:220243
      TPR; TPR repeat [structural motif]
      cl26004
      Location:366443
      PRK02603; photosystem I assembly protein Ycf3; Provisional
    5. NM_001366536.1NP_001353465.1  tetratricopeptide repeat protein 8 isoform H

      Status: REVIEWED

      Source sequence(s)
      AL121768, AL133238
      Conserved Domains (3) summary
      sd00006
      Location:190213
      TPR; TPR repeat [structural motif]
      pfam13429
      Location:160314
      TPR_15; Tetratricopeptide repeat
      cl26002
      Location:262409
      TPR_11; TPR repeat
    6. NM_144596.3NP_653197.2  tetratricopeptide repeat protein 8 isoform A

      See identical proteins and their annotated locations for NP_653197.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform A.
      Source sequence(s)
      AK124675, AY366523, BU738965, BX247959
      Consensus CDS
      CCDS32137.1
      UniProtKB/Swiss-Prot
      Q8TAM2
      UniProtKB/TrEMBL
      Q86U25
      Related
      ENSP00000339486.6, ENST00000345383.9
      Conserved Domains (2) summary
      COG0457
      Location:241498
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:361388
      TPR; TPR repeat [structural motif]
    7. NM_198309.3NP_938051.1  tetratricopeptide repeat protein 8 isoform B

      See identical proteins and their annotated locations for NP_938051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (B) is shorter, compared to isoform A.
      Source sequence(s)
      AY366523, BU738965, BX247959
      Consensus CDS
      CCDS9885.1
      UniProtKB/Swiss-Prot
      Q8TAM2
      UniProtKB/TrEMBL
      A0A0C4DGY3, Q86U25
      Related
      ENSP00000482721.1, ENST00000622513.4
      Conserved Domains (2) summary
      COG0457
      Location:231488
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:351378
      TPR; TPR repeat [structural motif]
    8. NM_198310.3NP_938052.1  tetratricopeptide repeat protein 8 isoform C

      See identical proteins and their annotated locations for NP_938052.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the 5' and central coding region, compared to variant 1. The encoded isoform (C) is shorter, compared to isoform A.
      Source sequence(s)
      AY366524, BU738965, BX247959
      Consensus CDS
      CCDS9886.1
      UniProtKB/Swiss-Prot
      Q8TAM2
      UniProtKB/TrEMBL
      A0A0C4DGH8, Q86U25
      Related
      ENSP00000445067.2, ENST00000536576.5
      Conserved Domains (2) summary
      COG0457
      Location:201458
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:321348
      TPR; TPR repeat [structural motif]

    RNA

    1. NR_159362.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121768, AL133238

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      88824153..88877996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536434.2XP_011534736.1  tetratricopeptide repeat protein 8 isoform X2

      Conserved Domains (2) summary
      COG0457
      Location:227484
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:347374
      TPR; TPR repeat [structural motif]
    2. XM_017020978.2XP_016876467.1  tetratricopeptide repeat protein 8 isoform X4

      Related
      ENSP00000452354.1, ENST00000554686.5
      Conserved Domains (3) summary
      sd00006
      Location:190213
      TPR; TPR repeat [structural motif]
      pfam13429
      Location:160314
      TPR_15; Tetratricopeptide repeat
      cl26002
      Location:262409
      TPR_11; TPR repeat
    3. XM_011536433.2XP_011534735.1  tetratricopeptide repeat protein 8 isoform X1

      Conserved Domains (3) summary
      sd00006
      Location:246269
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:275338
      TPR_11; TPR repeat
      pfam13432
      Location:417476
      TPR_16; Tetratricopeptide repeat
    4. XM_017020977.2XP_016876466.1  tetratricopeptide repeat protein 8 isoform X3

      Conserved Domains (3) summary
      COG0457
      Location:170397
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:220243
      TPR; TPR repeat [structural motif]
      cl26004
      Location:366443
      PRK02603; photosystem I assembly protein Ycf3; Provisional
    5. XM_011536435.3XP_011534737.1  tetratricopeptide repeat protein 8 isoform X5

      UniProtKB/TrEMBL
      B3KSL8
      Conserved Domains (3) summary
      sd00006
      Location:122149
      TPR; TPR repeat [structural motif]
      pfam13429
      Location:10115
      TPR_15; Tetratricopeptide repeat
      cl26002
      Location:102223
      TPR_11; TPR repeat
    6. XM_024449477.1XP_024305245.1  tetratricopeptide repeat protein 8 isoform X5

      Conserved Domains (3) summary
      sd00006
      Location:122149
      TPR; TPR repeat [structural motif]
      pfam13429
      Location:10115
      TPR_15; Tetratricopeptide repeat
      cl26002
      Location:102223
      TPR_11; TPR repeat
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