Seroatlas · Human Serome Atlas

IFT172

Intraflagellar transport protein 172 homolog

Also known as: BBS20, IF172_HUMAN, NPHP17, osm-1, SLB, wim

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

Protein identityUniProt · HPA

UniProt accession
Q9UG01
Gene
IFT172
Ensembl
ENSG00000138002
Chromosome
2
Canonical length
1749 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]

Canonical amino-acid sequenceUniProt

1749 residues, UniProt reviewed canonical sequence.

>Q9UG01|IFT172
     1  MHLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR DKFSTKPADM
    61  KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG DKKVICNKFI QTSAVTCLQW
   121  PAEYIIVFGL AEGKVRLANT KTNKSSTIYG TESYVVSLTT NCSGKGILSG HADGTIVRYF
   181  FDDEGSGESQ GKLVNHPCPP YALAWATNSI VAAGCDRKIV AYGKEGHMLQ TFDYSRDPQE
   241  REFTTAVSSP GGQSVVLGSY DRLRVFNWIP RRSIWEEAKP KEITNLYTIT ALAWKRDGSR
   301  LCVGTLCGGV EQFDCCLRRS IYKNKFELTY VGPSQVIVKN LSSGTRVVLK SHYGYEVEEV
   361  KILGKERYLV AHTSETLLLG DLNTNRLSEI AWQGSGGNEK YFFENENVCM IFNAGELTLV
   421  EYGNNDTLGS VRTEFMNPHL ISVRINERCQ RGTEDNKKLA YLIDIKTIAI VDLIGGYNIG
   481  TVSHESRVDW LELNETGHKL LFRDRKLRLH LYDIESCSKT MILNFCSYMQ WVPGSDVLVA
   541  QNRNSLCVWY NIEAPERVTM FTIRGDVIGL ERGGGKTEVM VMEGVTTVAY TLDEGLIEFG
   601  TAIDDGNYIR ATAFLETLEM TPETEAMWKT LSKLALEARQ LHIAERCFSA LGQVAKARFL
   661  HETNEIADQV SREYGGEGTD FYQVRARLAM LEKNYKLAEM IFLEQNAVEE AMGMYQELHR
   721  WDECIAVAEA KGHPALEKLR RSYYQWLMDT QQEERAGELQ ESQGDGLAAI SLYLKAGLPA
   781  KAARLVLTRE ELLANTELVE HITAALIKGE LYERAGDLFE KIHNPQKALE CYRKGNAFMK
   841  AVELARLAFP VEVVKLEEAW GDHLVQQKQL DAAINHYIEA RCSIKAIEAA LGARQWKKAI
   901  YILDLQDRNT ASKYYPLVAQ HYASLQEYEI AEELYTKGDR TKDAIDMYTQ AGRWEQAHKL
   961  AMKCMRPEDV SVLYITQAQE MEKQGKYREA ERLYVTVQEP DLAITMYKKH KLYDDMIRLV
  1021  GKHHPDLLSD THLHLGKELE AEGRLQEAEY HYLEAQEWKA TVNMYRASGL WEEAYRVART
  1081  QGGANAHKHV AYLWAKSLGG EAAVRLLNKL GLLEAAVDHA ADNCSFEFAF ELSRLALKHK
  1141  TPEVHLKYAM FLEDEGKFEE AEAEFIRAGK PKEAVLMFVH NQDWEAAQRV AEAHDPDSVA
  1201  EVLVGQARGA LEEKDFQKAE GLLLRAQRPG LALNYYKEAG LWSDALRICK DYVPSQLEAL
  1261  QEEYEREATK KGARGVEGFV EQARHWEQAG EYSRAVDCYL KVRDSGNSGL AEKCWMKAAE
  1321  LSIKFLPPQR NMEVVLAVGP QLIGIGKHSA AAELYLNLDL VKEAIDAFIE GEEWNKAKRV
  1381  AKELDPRYED YVDQHYKEFL KNQGKVDSLV GVDVIAALDL YVEQGQWDKC IETATKQNYK
  1441  ILHKYVALYA THLIREGSSA QALALYVQHG APANPQNFNI YKRIFTDMVS SPGTNCAEAY
  1501  HSWADLRDVL FNLCENLVKS SEANSPAHEE FKTMLLIAHY YATRSAAQSV KQLETVAARL
  1561  SVSLLRHTQL LPVDKAFYEA GIAAKAVGWD NMAFIFLNRF LDLTDAIEEG TLDGLDHSDF
  1621  QDTDIPFEVP LPAKQHVPEA EREEVRDWVL TVSMDQRLEQ VLPRDERGAY EASLVAASTG
  1681  VRALPCLITG YPILRNKIEF KRPGKAANKD NWNKFLMAIK TSHSPVCQDV LKFISQWCGG
  1741  LPSTSFSFQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IFT172 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)
0.27
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • fallopian tube: 16 nTPM
  • parathyroid gland: 12 nTPM
  • testis: 12 nTPM
  • choroid plexus: 5.9 nTPM
  • ovary: 5.8 nTPM
  • thyroid gland: 5.5 nTPM

Single-cell type

  • late spermatids: 925 nCPM
  • early spermatids: 660 nCPM
  • respiratory ciliated cells: 291 nCPM
  • fallopian tube ciliated cells: 178 nCPM
  • ependymal cells: 177 nCPM
  • rod photoreceptor cells: 159 nCPM

Immune cell

  • myeloid DC: 0.9 nTPM
  • NK-cell: 0.9 nTPM
  • memory B-cell: 0.7 nTPM
  • intermediate monocyte: 0.6 nTPM
  • naive B-cell: 0.5 nTPM
  • classical monocyte: 0.4 nTPM

Brain region

  • choroid plexus: 28 nTPM
  • medulla oblongata: 11 nTPM
  • midbrain: 11 nTPM
  • white matter: 10 nTPM
  • hypothalamus: 8.7 nTPM
  • pons: 8.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IFT172.

Disease | AllUniProt

Conditions IFT172 is implicated in, by any mechanism.

  • Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) MIM:615630
  • Retinitis pigmentosa 71 (RP71) MIM:616394
  • Bardet-Biedl syndrome 20 (BBS20) MIM:619471

Disease | GeneticClinVar

157 pathogenic / likely-pathogenic of 2,005 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Short-rib thoracic dysplasia 10 with or without polydactyly
  • Retinitis pigmentosa 71
  • Bardet-Biedl syndrome 20
  • IFT172-related disorder
  • Short-rib thoracic dysplasia 10 without polydactyly

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)
0.76
gnomAD pLI
0
gnomAD missense Z
1.19
DepMap mean gene effect
-0.02
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of IFT172 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 IFT172 as an antibody target. Whether an autoantibody or antibody against IFT172 could matter depends on whether native IFT172 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IFT172 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 IFT172 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/IFT172. 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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