Seroatlas · Human Serome Atlas

IFT80

Intraflagellar transport protein 80 homolog

Also known as: FAP167, IFT80_HUMAN, KIAA1374, WDR56

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

Protein identityUniProt · HPA

UniProt accession
Q9P2H3
Gene
IFT80
Ensembl
ENSG00000068885
Chromosome
3
Canonical length
777 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

777 residues, UniProt reviewed canonical sequence.

>Q9P2H3|IFT80
     1  MRLKISLLKE PKHQELVSCV GWTTAEELYS CSDDHQIVKW NLLTSETTQI VKLPDDIYPI
    61  DFHWFPKSLG VKKQTQAESF VLTSSDGKFH LISKLGRVEK SVEAHCGAVL AGRWNYEGTA
   121  LVTVGEDGQI KIWSKTGMLR STLAQQGTPV YSVAWGPDSE KVLYTAGKQL IIKPLQPNAK
   181  VLQWKAHDGI ILKVDWNSVN DLILSAGEDC KYKVWDSYGR PLYNSQPHEH PITSVAWAPD
   241  GELFAVGSFH TLRLCDKTGW SYALEKPNTG SIFNIAWSID GTQIAGACGN GHVVFAHVVE
   301  QHWEWKNFQV TLTKRRAMQV RNVLNDAVDL LEFRDRVIKA SLNYAHLVVS TSLQCYVFST
   361  KNWNTPIIFD LKEGTVSLIL QAERHFLLVD GSSIYLYSYE GRFISSPKFP GMRTDILNAQ
   421  TVSLSNDTIA IRDKADEKII FLFEASTGKP LGDGKFLSHK NEILEIALDQ KGLTNDRKIA
   481  FIDKNRDLCI TSVKRFGKEE QIIKLGTMVH TLAWNDTCNI LCGLQDTRFI VWYYPNTVYV
   541  DRDILPKTLY ERDASEFSKN PHIVSFVGNQ VTIRRADGSL VHISITPYPA ILHEYVSSSK
   601  WEDAVRLCRF VKEQTMWACL AAMAVANRDM TTAEIAYAAI GEIDKVQYIN SIKNLPSKES
   661  KMAHILLFSG NIQEAEIVLL QAGLVYQAIQ ININLYNWER ALELAVKYKT HVDTVLAYRQ
   721  KFLETFGKQE TNKRYLHYAE GLQIDWEKIK AKIEMEITKE REQSSSSQSS KSIGLKP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IFT80 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)
0.23
Highest tissue expression
26 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 26 nTPM
  • pituitary gland: 24 nTPM
  • retina: 23 nTPM
  • testis: 22 nTPM
  • hippocampal formation: 19 nTPM
  • spinal cord: 19 nTPM

Single-cell type

  • oligodendrocytes: 239 nCPM
  • ependymal cells: 214 nCPM
  • choroid plexus epithelial cells: 184 nCPM
  • bergmann glia: 68 nCPM
  • oligodendrocyte progenitor cells: 64 nCPM
  • astrocytes: 62 nCPM

Immune cell

  • plasmacytoid DC: 1.4 nTPM
  • naive CD4 T-cell: 1 nTPM
  • T-reg: 1 nTPM
  • basophil: 0.9 nTPM
  • NK-cell: 0.9 nTPM
  • memory B-cell: 0.8 nTPM

Brain region

  • white matter: 76 nTPM
  • basal ganglia: 48 nTPM
  • cerebral cortex: 40 nTPM
  • midbrain: 40 nTPM
  • choroid plexus: 39 nTPM
  • hypothalamus: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IFT80.

Disease | AllUniProt

Conditions IFT80 is implicated in, by any mechanism.

  • Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) MIM:611263

Disease | GeneticClinVar

64 pathogenic / likely-pathogenic of 735 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)
0.99
gnomAD pLI
0
gnomAD missense Z
1.51
DepMap mean gene effect
0.02
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of IFT80 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 IFT80 as an antibody target. Whether an autoantibody or antibody against IFT80 could matter depends on whether native IFT80 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IFT80 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 IFT80 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/IFT80. 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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