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

Gene ID: 123016, updated on 4-May-2015
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; Vega:OTTHUMG00000170884
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]
Orthologs
See TTC8 in MapViewer
Location:
14q31.3
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105370614 Neighboring gene protein tyrosine phosphatase, non-receptor type 21 Neighboring gene zinc finger CCCH-type containing 14 Neighboring gene echinoderm microtubule associated protein like 5 Neighboring gene uncharacterized LOC105370615 Neighboring gene metallophosphoesterase 1 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Bardet-Biedl syndrome 8
MedGen: C1859566 OMIM: 615985 GeneReviews: Bardet-Biedl Syndrome
Compare labs
Retinitis pigmentosa 51
MedGen: C3150715 OMIM: 613464 GeneReviews: Retinitis Pigmentosa Overview
Compare labs

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
    Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
  • 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 biosystemThe primary cilium is a sensory organelle that is required for the transduction of numerous external signals such as growth factors, hormones and morphogens, and an intact primary cilium is needed fo...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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
axon guidance IEA
Inferred from Electronic Annotation
more info
 
camera-type eye photoreceptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cilium assembly TAS
Traceable Author Statement
more info
PubMed 
establishment of anatomical structure orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
nonmotile primary cilium assembly IEA
Inferred from Electronic Annotation
more info
 
olfactory bulb development IEA
Inferred from Electronic Annotation
more info
 
organelle organization TAS
Traceable Author Statement
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of protein localization IEA
Inferred from Electronic Annotation
more info
 
renal tubule development IEA
Inferred from Electronic Annotation
more info
 
sensory perception of smell 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
 
photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
tetratricopeptide repeat protein 8
Names
tetratricopeptide repeat protein 8
Bardet-Biedl syndrome type 8
TPR repeat protein 8

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_008126.1 RefSeqGene

    Range
    4520..58363
    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/TrEMBL
    A0A0C4DGX9
    UniProtKB/TrEMBL
    Q86U25
    UniProtKB/Swiss-Prot
    Q8TAM2
    Related
    ENSP00000482306, ENST00000614125
    Conserved Domains (2) summary
    COG0457
    Location:257514
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:310408
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
  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/TrEMBL
    A0A0C4DFT4
    UniProtKB/TrEMBL
    Q86U25
    UniProtKB/Swiss-Prot
    Q8TAM2
    Related
    ENSP00000351439, ENST00000358622
    Conserved Domains (3) summary
    cd00189
    Location:96194
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    pfam13414
    Location:197264
    TPR_11; TPR repeat
    pfam13424
    Location:163226
    TPR_12; Tetratricopeptide 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/TrEMBL
    B3KSL8
    UniProtKB/TrEMBL
    Q86U25
    UniProtKB/Swiss-Prot
    Q8TAM2
    Conserved Domains (3) summary
    COG0457
    Location:2259
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:55153
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    cl22441
    Location:193261
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
  4. 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/TrEMBL
    Q86U25
    UniProtKB/Swiss-Prot
    Q8TAM2
    Related
    ENSP00000339486, ENST00000345383
    Conserved Domains (2) summary
    COG0457
    Location:241498
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:294392
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
  5. 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/TrEMBL
    A0A0C4DGY3
    UniProtKB/TrEMBL
    Q86U25
    UniProtKB/Swiss-Prot
    Q8TAM2
    Conserved Domains (2) summary
    COG0457
    Location:231488
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:284382
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
  6. 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/TrEMBL
    A0A0C4DGH8
    UniProtKB/TrEMBL
    Q86U25
    UniProtKB/Swiss-Prot
    Q8TAM2
    Related
    ENSP00000445067, ENST00000536576
    Conserved Domains (2) summary
    COG0457
    Location:201458
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:254352
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536432.1XP_011534734.1  

    See identical proteins and their annotated locations for XP_011534734.1

    Related
    ENSP00000337653, OTTHUMP00000244654, ENST00000338104, OTTHUMT00000410864
    Conserved Domains (2) summary
    COG0457
    Location:257514
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:310408
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
  2. XM_006720035.1XP_006720098.1  

    See identical proteins and their annotated locations for XP_006720098.1

    UniProtKB/TrEMBL
    A0A0C4DGY3
    UniProtKB/Swiss-Prot
    Q8TAM2
    Conserved Domains (2) summary
    COG0457
    Location:231488
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:284382
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
  3. XM_006720037.2XP_006720100.1  

    See identical proteins and their annotated locations for XP_006720100.1

    UniProtKB/TrEMBL
    A0A0C4DGH8
    UniProtKB/Swiss-Prot
    Q8TAM2
    Related
    ENSP00000298324, OTTHUMP00000244653, ENST00000346301, OTTHUMT00000410863
    Conserved Domains (2) summary
    COG0457
    Location:201458
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:254352
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
  4. XM_011536433.1XP_011534735.1  

    Conserved Domains (3) summary
    cd00189
    Location:310408
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    pfam13414
    Location:272338
    TPR_11; TPR repeat
    pfam13432
    Location:417476
    TPR_16; Tetratricopeptide repeat
  5. XM_011536434.1XP_011534736.1  

    Conserved Domains (2) summary
    COG0457
    Location:227484
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:280378
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
  6. XM_011536435.1XP_011534737.1  

    See identical proteins and their annotated locations for XP_011534737.1

    Conserved Domains (3) summary
    COG0457
    Location:2259
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:55153
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    cl22441
    Location:193261
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    89228305..89282150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)