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

Gene ID: 123016, updated on 6-Jul-2014
Official Symbol
TTC8provided by HGNC
Official Full Name
tetratricopeptide repeat domain 8provided by HGNC
Primary source
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]
See TTC8 in Epigenomics, MapViewer
Location:
14q31.3
Exon count :
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 spermatogenesis associated 7 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 transfer RNA-Ala (AGC) 15-1 Neighboring gene metallophosphoesterase 1 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Bardet-Biedl syndrome
MedGen: C0752166 OMIM: 209900 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
 
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
 
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 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
tetratricopeptide repeat protein 8
Names
tetratricopeptide repeat protein 8
TPR repeat protein 8
Bardet-Biedl syndrome type 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 

    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 proteins identical to 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
    UniProtKB/TrEMBL
    Q86U25
    UniProtKB/Swiss-Prot
    Q8TAM2
    Conserved Domains (2) summary
    COG0457
    Location:257514
    Blast Score: 148
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:310408
    Blast Score: 159
    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 proteins identical to 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
    UniProtKB/TrEMBL
    Q86U25
    UniProtKB/Swiss-Prot
    Q8TAM2
    Conserved Domains (3) summary
    cd00189
    Location:96194
    Blast Score: 145
    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
    Blast Score: 105
    TPR_11; TPR repeat
    pfam13424
    Location:163226
    Blast Score: 84
    TPR_12; Tetratricopeptide repeat
  3. NM_001288783.1NP_001275712.1  tetratricopeptide repeat protein 8 isoform F

    See proteins identical to 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 (2) summary
    COG0457
    Location:2259
    Blast Score: 110
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:55153
    Blast Score: 145
    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 proteins identical to 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
    ENSP00000370031, OTTHUMP00000244656, ENST00000380656, OTTHUMT00000410866
    Conserved Domains (2) summary
    COG0457
    Location:241498
    Blast Score: 152
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:294392
    Blast Score: 161
    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 proteins identical to 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
    Q86U25
    UniProtKB/Swiss-Prot
    Q8TAM2
    Related
    ENSP00000339486, OTTHUMP00000244652, ENST00000345383, OTTHUMT00000410861
    Conserved Domains (2) summary
    COG0457
    Location:231488
    Blast Score: 150
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:284382
    Blast Score: 159
    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 proteins identical to 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
    Q86U25
    UniProtKB/Swiss-Prot
    Q8TAM2
    Related
    ENSP00000298324, OTTHUMP00000244653, ENST00000346301, OTTHUMT00000410863
    Conserved Domains (2) summary
    COG0457
    Location:201458
    Blast Score: 148
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:254352
    Blast Score: 159
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

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

mRNA and Protein(s)

  1. XM_006720035.1XP_006720098.1  

    See proteins identical to XP_006720098.1

    UniProtKB/Swiss-Prot
    Q8TAM2
    Conserved Domains (2) summary
    COG0457
    Location:231488
    Blast Score: 150
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:284382
    Blast Score: 159
    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_006720036.1XP_006720099.1  

    Conserved Domains (3) summary
    cd00189
    Location:284382
    Blast Score: 159
    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:246312
    Blast Score: 82
    TPR_11; TPR repeat
    pfam13432
    Location:391450
    Blast Score: 79
    TPR_16; Tetratricopeptide repeat
  3. XM_006720037.1XP_006720100.1  

    See proteins identical to XP_006720100.1

    UniProtKB/Swiss-Prot
    Q8TAM2
    Conserved Domains (2) summary
    COG0457
    Location:201458
    Blast Score: 148
    NrfG; FOG: TPR repeat [General function prediction only]
    cd00189
    Location:254352
    Blast Score: 159
    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 HuRef

Genomic

  1. AC_000146.1 

    Range
    69465359..69519176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

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

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