IFT140
Intraflagellar transport protein 140 homolog
Also known as: gs114, IF140_HUMAN, KIAA0590, WDTC2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96RY7
- Gene
- IFT140
- Ensembl
- ENSG00000187535
- Chromosome
- 16
- Canonical length
- 1462 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Mitochondria,Basal body
OverviewNCBI Gene
This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
Canonical amino-acid sequenceUniProt
1462 residues, UniProt reviewed canonical sequence.
>Q96RY7|IFT140
1 MALYYDHQIE APDAAGSPSF ISWHPVHPFL AVAYISTTST GSVDIYLEQG ECVPDTHVER
61 PFRVASLCWH PTRLVLAVGW ETGEVTVFNK QDKEQHTMPL THTADITVLR WSPSGNCLLS
121 GDRLGVLLLW RLDQRGRVQG TPLLKHEYGK HLTHCIFRLP PPGEDLVQLA KAAVSGDEKA
181 LDMFNWKKSS SGSLLKMGSH EGLLFFVSLM DGTVHYVDEK GKTTQVVSAD STIQMLFYME
241 KREALVVVTE NLRLSLYTVP PEGKAEEVMK VKLSGKTGRR ADIALIEGSL LVMAVGEAAL
301 RFWDIERGEN YILSPDEKFG FEKGENMNCV CYCKVKGLLA AGTDRGRVAM WRKVPDFLGS
361 PGAEGKDRWA LQTPTELQGN ITQIQWGSRK NLLAVNSVIS VAILSERAMS SHFHQQVAAM
421 QVSPSLLNVC FLSTGVAHSL RTDMHISGVF ATKDAVAVWN GRQVAIFELS GAAIRSAGTF
481 LCETPVLAMH EENVYTVESN RVQVRTWQGT VKQLLLFSET EGNPCFLDIC GNFLVVGTDL
541 AHFKSFDLSR REAKAHCSCR SLAELVPGVG GIASLRCSSS GSTISILPSK ADNSPDSKIC
601 FYDVEMDTVT VFDFKTGQID RRETLSFNEQ ETNKSHLFVD EGLKNYVPVN HFWDQSEPRL
661 FVCEAVQETP RSQPQSANGQ PQDGRAGPAA DVLILSFFIS EEHGFLLHES FPRPATSHSL
721 LGMEVPYYYF TRKPEEADRE DEVEPGCHHI PQMVSRRPLR DFVGLEDCDK ATRDAMLHFS
781 FFVTIGDMDE AFKSIKLIKS EAVWENMARM CVKTQRLDVA KVCLGNMGHA RGARALREAE
841 QEPELEARVA VLATQLGMLE DAEQLYRKCK RHDLLNKFYQ AAGRWQEALQ VAEHHDRVHL
901 RSTYHRYAGH LEASADCSRA LSYYEKSDTH RFEVPRMLSE DLPSLELYVN KMKDKTLWRW
961 WAQYLESQGE MDAALHYYEL ARDHFSLVRI HCFQGNVQKA AQIANETGNL AASYHLARQY
1021 ESQEEVGQAV HFYTRAQAFK NAIRLCKENG LDDQLMNLAL LSSPEDMIEA ARYYEEKGVQ
1081 MDRAVMLYHK AGHFSKALEL AFATQQFVAL QLIAEDLDET SDPALLARCS DFFIEHSQYE
1141 RAVELLLAAR KYQEALQLCL GQNMSITEEM AEKMTVAKDS SDLPEESRRE LLEQIADCCM
1201 RQGSYHLATK KYTQAGNKLK AMRALLKSGD TEKITFFASV SRQKEIYIMA ANYLQSLDWR
1261 KEPEIMKNII GFYTKGRALD LLAGFYDACA QVEIDEYQNY DKAHGALTEA YKCLAKAKAK
1321 SPLDQETRLA QLQSRMALVK RFIQARRTYT EDPKESIKQC ELLLEEPDLD STIRIGDVYG
1381 FLVEHYVRKE EYQTAYRFLE EMRRRLPLAN MSYYVSPQAV DAVHRGLGLP LPRTVPEQVR
1441 HNSMEDAREL DEEVVEEADD DPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IFT140 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
- 22 nTPM
Expression across tissuesHPA
Tissue
- thyroid gland: 22 nTPM
- pituitary gland: 15 nTPM
- testis: 15 nTPM
- fallopian tube: 14 nTPM
- urinary bladder: 13 nTPM
- cerebellum: 12 nTPM
Single-cell type
- respiratory ciliated cells: 145 nCPM
- cone photoreceptor cells: 97 nCPM
- ependymal cells: 91 nCPM
- rod photoreceptor cells: 80 nCPM
- endometrial ciliated cells: 79 nCPM
- fallopian tube ciliated cells: 75 nCPM
Immune cell
- MAIT T-cell: 3.7 nTPM
- naive CD8 T-cell: 3 nTPM
- naive CD4 T-cell: 1.9 nTPM
- memory CD8 T-cell: 1.4 nTPM
- NK-cell: 1.1 nTPM
- total PBMC: 0.8 nTPM
Brain region
- choroid plexus: 39 nTPM
- midbrain: 27 nTPM
- hypothalamus: 20 nTPM
- medulla oblongata: 18 nTPM
- cerebellum: 17 nTPM
- spinal cord: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IFT140.
Disease | AllUniProt
Conditions IFT140 is implicated in, by any mechanism.
- Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) MIM:266920
- Retinitis pigmentosa 80 (RP80) MIM:617781
- Polycystic kidney disease 9 (PKD9) MIM:621164
- Cranioectodermal dysplasia 5 (CED5) MIM:621180
Disease | GeneticClinVar
233 pathogenic / likely-pathogenic of 2,258 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Saldino-Mainzer syndrome
- Retinitis pigmentosa 80
- Retinal dystrophy
- IFT140-related disorder
- Renal cyst
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)
- 0.82
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.81
- DepMap mean gene effect
- -0.07
- 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
- cilium assembly
- determination of left/right symmetry
- embryonic brain development
- embryonic camera-type eye development
- embryonic cranial skeleton morphogenesis
- embryonic digit morphogenesis
- heart development
- intraciliary retrograde transport
- neural tube patterning
- non-motile cilium assembly
- photoreceptor cell outer segment organization
- protein localization to cilium
- regulation of cilium assembly
- regulation of smoothened signaling pathway
Cellular components
Protein domainsUniProt · Pfam · InterPro
- WD40 repeat
- WD40/YVTN repeat-like-containing domain superfamily
- WD40-repeat-containing domain superfamily
- IF140/IFT172/WDR19, TPR domain
- IF140/IFT172 TPR domain
- IFT140, first beta-propeller domain
- IFT140, second beta-propeller domain
- IF140, C-terminal TPR domain
- IFT140 first beta-propeller
- IFT140 second beta-propeller
- IF140 C-terminal TPR domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IFT140 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 IFT140 as an antibody target. Whether an autoantibody or antibody against IFT140 could matter depends on whether native IFT140 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IFT140 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 IFT140 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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