Seroatlas · Human Serome Atlas

IFT81

Intraflagellar transport protein 81 homolog

Also known as: CDV-1R, CDV1, IFT81_HUMAN, MGC4027

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

Protein identityUniProt · HPA

UniProt accession: Q8WYA0
Gene: IFT81
Ensembl: ENSG00000122970
Chromosome: 12
Canonical length: 676 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Primary cilium,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]

Canonical amino-acid sequenceUniProt

676 residues, UniProt reviewed canonical sequence.

>Q8WYA0|IFT81
     1  MSDQIKFIMD SLNKEPFRKN YNLITFDSLE PMQLLQVLSD VLAEIDPKQL VDIREEMPEQ
    61  TAKRMLSLLG ILKYKPSGNA TDMSTFRQGL VIGSKPVIYP VLHWLLQRTN ELKKRAYLAR
   121  FLIKLEVPSE FLQDETVADT NKQYEELMEA FKTLHKEYEQ LKISGFSTAE IRKDISAMEE
   181  EKDQLIKRVE HLKKRVETAQ NHQWMLKIAR QLRVEKEREE YLAQQKQEQK NQLFHAVQRL
   241  QRVQNQLKSM RQAAADAKPE SLMKRLEEEI KFNLYMVTEK FPKELENKKK ELHFLQKVVS
   301  EPAMGHSDLL ELESKINEIN TEINQLIEKK MMRNEPIEGK LSLYRQQASI ISRKKEAKAE
   361  ELQEAKEKLA SLEREASVKR NQTREFDGTE VLKGDEFKRY VNKLRSKSTV FKKKHQIIAE
   421  LKAEFGLLQR TEELLKQRHE NIQQQLQTME EKKGISGYSY TQEELERVSA LKSEVDEMKG
   481  RTLDDMSEMV KKLYSLVSEK KSALASVIKE LRQLRQKYQE LTQECDEKKS QYDSCAAGLE
   541  SNRSKLEQEV RRLREECLQE ESRYHYTNCM IKNLEVQLRR ATDEMKAYIS SDQQEKRKAI
   601  REQYTKNTAE QENLGKKLRE KQKVIRESHG PNMKQAKMWR DLEQLMECKK QCFLKQQSQT
   661  SIGQVIQEGG EDRLIL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IFT81 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): 0.45
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

testis: 30 nTPM
retina: 21 nTPM
epididymis: 18 nTPM
fallopian tube: 17 nTPM
parathyroid gland: 16 nTPM
blood vessel: 15 nTPM

Single-cell type

respiratory ciliated cells: 288 nCPM
early primary spermatocytes: 244 nCPM
fallopian tube ciliated cells: 219 nCPM
ependymal cells: 194 nCPM
cone photoreceptor cells: 184 nCPM
endometrial ciliated cells: 168 nCPM

Immune cell

myeloid DC: 1 nTPM
plasmacytoid DC: 1 nTPM
neutrophil: 0.8 nTPM
NK-cell: 0.7 nTPM
MAIT T-cell: 0.5 nTPM
memory CD4 T-cell: 0.5 nTPM

Brain region

choroid plexus: 28 nTPM
medulla oblongata: 21 nTPM
cerebellum: 20 nTPM
midbrain: 20 nTPM
hypothalamus: 18 nTPM
spinal cord: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IFT81.

Disease | AllUniProt

Conditions IFT81 is implicated in, by any mechanism.

Short-rib thoracic dysplasia 19 with or without polydactyly (SRTD19) MIM:617895

Disease | GeneticClinVar

50 pathogenic / likely-pathogenic of 523 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Short-rib thoracic dysplasia 19 with or without polydactyly
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY
Retinal dystrophy
Jeune thoracic dystrophy
Short stature

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): 0.8
gnomAD pLI: 0
gnomAD missense Z: 0.83
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

tubulin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Intraflagellar transport protein 81
IFT81, calponin homology domain
IFT81, N-terminal domain superfamily
Intraflagellar transport 81 calponin homology domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of IFT81 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 IFT81 as an antibody target. Whether an autoantibody or antibody against IFT81 could matter depends on whether native IFT81 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IFT81 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 IFT81 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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