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

Gene ID: 123016, updated on 1-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (88824153..88881079)
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 Functions

What'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 PubChem

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 
non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BBSome IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IBA
Inferred from Biological aspect of Ancestor
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
 
non-motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_001366535.2NP_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_001366536.2NP_001353465.1  tetratricopeptide repeat protein 8 isoform H

    Status: REVIEWED

    Source sequence(s)
    AL121768, AL133238
    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
  6. NM_144596.4NP_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, BX247959
    Consensus CDS
    CCDS32137.1
    UniProtKB/Swiss-Prot
    Q8TAM2
    UniProtKB/TrEMBL
    Q86U25
    Related
    ENSP00000370031.2, ENST00000380656.6
    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_159362.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121768, AL133238

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    88824153..88881079
    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_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
  3. 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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