Seroatlas · Human Serome Atlas

TTC8

Tetratricopeptide repeat protein 8

Also known as: BBS8, RP51, TTC8_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8TAM2
Gene
TTC8
Ensembl
ENSG00000165533
Chromosome
14
Canonical length
541 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoli fibrillar center,Basal body,Perinuclear theca,Flagellar centriole

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

541 residues, UniProt reviewed canonical sequence.

>Q8TAM2|TTC8
     1  MSSEMEPLLL AWSYFRRRKF QLCADLCTQM LEKSPYDQEP DPELPVHQAA WILKARALTE
    61  MVYIDEIDVD QEGIAEMMLD ENAIAQVPRP GTSLKLPGTN QTGGPSQAVR PITQAGRPIT
   121  GFLRPSTQSG RPGTMEQAIR TPRTAYTARP ITSSSGRFVR LGTASMLTSP DGPFINLSRL
   181  NLTKYSQKPK LAKALFEYIF HHENDVKTIH LEDVVLHLGI YPFLLRNKNH IEKNALDLAA
   241  LSTEHSQYKD WWWKVQIGKC YYRLGMYREA EKQFKSALKQ QEMVDTFLYL AKVYVSLDQP
   301  VTALNLFKQG LDKFPGEVTL LCGIARIYEE MNNMSSAAEY YKEVLKQDNT HVEAIACIGS
   361  NHFYSDQPEI ALRFYRRLLQ MGIYNGQLFN NLGLCCFYAQ QYDMTLTSFE RALSLAENEE
   421  EAADVWYNLG HVAVGIGDTN LAHQCFRLAL VNNNNHAEAY NNLAVLEMRK GHVEQARALL
   481  QTASSLAPHM YEPHFNFATI SDKIGDLQRS YVAAQKSEAA FPDHVDTQHL IKQLRQHFAM
   541  L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TTC8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
62 nTPM

Expression across tissuesHPA

Tissue

  • ovary: 62 nTPM
  • pituitary gland: 40 nTPM
  • adrenal gland: 37 nTPM
  • retina: 35 nTPM
  • thyroid gland: 35 nTPM
  • epididymis: 34 nTPM

Single-cell type

  • sertoli cells: 339 nCPM
  • rod photoreceptor cells: 322 nCPM
  • cone photoreceptor cells: 317 nCPM
  • lactotrophs: 298 nCPM
  • ependymal cells: 270 nCPM
  • thyrotrophs: 260 nCPM

Immune cell

  • basophil: 14 nTPM
  • eosinophil: 3.8 nTPM
  • naive B-cell: 2.2 nTPM
  • myeloid DC: 1.9 nTPM
  • NK-cell: 1.7 nTPM
  • non-classical monocyte: 1.5 nTPM

Brain region

  • choroid plexus: 27 nTPM
  • hypothalamus: 25 nTPM
  • hippocampal formation: 15 nTPM
  • midbrain: 14 nTPM
  • basal ganglia: 14 nTPM
  • medulla oblongata: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TTC8.

Disease | AllUniProt

Conditions TTC8 is implicated in, by any mechanism.

Disease | GeneticClinVar

76 pathogenic / likely-pathogenic of 613 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.74
gnomAD pLI
0
gnomAD missense Z
-0.08
DepMap mean gene effect
-0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TTC8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TTC8 as an antibody target. Whether an autoantibody or antibody against TTC8 could matter depends on whether native TTC8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TTC8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TTC8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TTC8. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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