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

    Gene ID: 123016, updated on 3-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:20087
    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
    mouse all
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    Genomic context

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    Location:
    14q31.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (88824153..88881079)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (83047758..83104682)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (89290497..89347423)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 14 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:89084698-89085319 Neighboring gene EMAP like 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8843 Neighboring gene MPRA-validated peak2226 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8844 Neighboring gene RNA, U4 small nuclear 92, pseudogene Neighboring gene tRNA-Ala (anticodon AGC) 15-1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:89466718-89467917 Neighboring gene uncharacterized LOC124903356

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Riazuddin SA, et al. Am J Hum Genet, 2010 May 14. PMID 20451172, Free PMC Article
    2. Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. Ullah A, et al. Mol Vis, 2017. PMID 28761321, Free PMC Article
    3. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Bin J, et al. Hum Mutat, 2009 Jul. PMID 19402160
    4. Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. Barbelanne M, et al. Hum Mol Genet, 2015 Apr 15. PMID 25552655, Free PMC Article
    5. Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. Su X, et al. Hum Mol Genet, 2014 Oct 15. PMID 24939912, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome.
      Title: Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
    2. Observational study of genetic testing. (HuGE Navigator)
      Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
    3. A splice-site mutation in a retina-specific exon of TTC8 causes nonsyndromic retinitis pigmentosa.
      Title: A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
    4. small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients
      Title: BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
    6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
    7. A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium
      Title: Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686H0432

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in camera-type eye photoreceptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cilium assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in establishment of anatomical structure orientation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of epithelial cell apical/basal polarity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of planar polarity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner ear receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multi-ciliated epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in olfactory bulb development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of stress fiber assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in renal tubule development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of smell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BBSome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of BBSome IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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
      5499..58836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288781.1 → NP_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
      A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8
      UniProtKB/TrEMBL
      A0A0C4DGX9
      Related
      ENSP00000337653.6, ENST00000338104.10
      Conserved Domains (2) summary
      COG0457
      Location:257 → 514
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:377 → 404
      TPR; TPR repeat [structural motif]

    2. NM_001288782.1 → NP_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
      UniProtKB/TrEMBL
      A0A0S2Z5V9
      Conserved Domains (2) summary
      sd00006
      Location:163 → 190
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:199 → 264
      TPR_11; TPR repeat

    3. NM_001288783.1 → NP_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
      Conserved Domains (3) summary
      TIGR02521
      Location:102 → 223
      type_IV_pilW; type IV pilus biogenesis/stability protein PilW
      TIGR02917
      Location:2 → 259
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:122 → 149
      TPR; TPR repeat [structural motif]

    4. NM_001366535.2 → NP_001353464.1  tetratricopeptide repeat protein 8 isoform G

      Status: REVIEWED

      Source sequence(s)
      AL121768, AL133238
      UniProtKB/TrEMBL
      H0YJX0
      Conserved Domains (3) summary
      COG0457
      Location:170 → 397
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:220 → 243
      TPR; TPR repeat [structural motif]
      cl26004
      Location:366 → 443
      PRK02603; photosystem I assembly protein Ycf3; Provisional

    5. NM_001366536.2 → NP_001353465.1  tetratricopeptide repeat protein 8 isoform H

      Status: REVIEWED

      Source sequence(s)
      AL121768, AL133238
      UniProtKB/TrEMBL
      H0YJX0
      Related
      ENSP00000452354.1, ENST00000554686.5
      Conserved Domains (3) summary
      sd00006
      Location:190 → 213
      TPR; TPR repeat [structural motif]
      pfam13429
      Location:160 → 314
      TPR_15; Tetratricopeptide repeat
      cl26002
      Location:262 → 409
      TPR_11; TPR repeat

    6. NM_144596.4 → NP_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
      A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8
      Related
      ENSP00000370031.2, ENST00000380656.7
      Conserved Domains (2) summary
      COG0457
      Location:241 → 498
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:361 → 388
      TPR; TPR repeat [structural motif]

    7. NM_198309.3 → NP_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
      A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8
      UniProtKB/TrEMBL
      A0A0C4DGY3
      Related
      ENSP00000482721.1, ENST00000622513.4
      Conserved Domains (2) summary
      COG0457
      Location:231 → 488
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:351 → 378
      TPR; TPR repeat [structural motif]

    8. NM_198310.3 → NP_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, H0YJX0
      Related
      ENSP00000298324.6, ENST00000346301.8
      Conserved Domains (2) summary
      COG0457
      Location:201 → 458
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:321 → 348
      TPR; TPR repeat [structural motif]

    RNA

    1. NR_159362.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121768, AL133238

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      88824153..88881079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536433.3 → XP_011534735.1  tetratricopeptide repeat protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8
      Conserved Domains (3) summary
      sd00006
      Location:246 → 269
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:275 → 338
      TPR_11; TPR repeat
      pfam13432
      Location:417 → 476
      TPR_16; Tetratricopeptide repeat

    2. XM_011536434.3 → XP_011534736.1  tetratricopeptide repeat protein 8 isoform X2

      UniProtKB/Swiss-Prot
      A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8
      Conserved Domains (2) summary
      COG0457
      Location:227 → 484
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:347 → 374
      TPR; TPR repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      83047758..83104682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375403.1 → XP_054231378.1  tetratricopeptide repeat protein 8 isoform X1

    2. XM_054375404.1 → XP_054231379.1  tetratricopeptide repeat protein 8 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAM2.2 GenPept UniProtKB/Swiss-Prot:Q8TAM2

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