Seroatlas · Human Serome Atlas

IFT122

Intraflagellar transport protein 122 homolog

Also known as: FAP80, IF122_HUMAN, SPG, WDR10, WDR10p, WDR140

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

Protein identityUniProt · HPA

UniProt accession: Q9HBG6
Gene: IFT122
Ensembl: ENSG00000163913
Chromosome: 3
Canonical length: 1241 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Primary cilium,Primary cilium tip,Primary cilium transition zone,Cytosol,Mid piece,Principal piece

OverviewNCBI Gene

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

1241 residues, UniProt reviewed canonical sequence.

>Q9HBG6|IFT122
     1  MRAVLTWRDK AEHCINDIAF KPDGTQLILA AGSRLLVYDT SDGTLLQPLK GHKDTVYCVA
    61  YAKDGKRFAS GSADKSVIIW TSKLEGILKY THNDAIQCVS YNPITHQLAS CSSSDFGLWS
   121  PEQKSVSKHK SSSKIICCSW TNDGQYLALG MFNGIISIRN KNGEEKVKIE RPGGSLSPIW
   181  SICWNPSSRW ESFWMNRENE DAEDVIVNRY IQEIPSTLKS AVYSSQGSEA EEEEPEEEDD
   241  SPRDDNLEER NDILAVADWG QKVSFYQLSG KQIGKDRALN FDPCCISYFT KGEYILLGGS
   301  DKQVSLFTKD GVRLGTVGEQ NSWVWTCQAK PDSNYVVVGC QDGTISFYQL IFSTVHGLYK
   361  DRYAYRDSMT DVIVQHLITE QKVRIKCKEL VKKIAIYRNR LAIQLPEKIL IYELYSEDLS
   421  DMHYRVKEKI IKKFECNLLV VCANHIILCQ EKRLQCLSFS GVKEREWQME SLIRYIKVIG
   481  GPPGREGLLV GLKNGQILKI FVDNLFAIVL LKQATAVRCL DMSASRKKLA VVDENDTCLV
   541  YDIDTKELLF QEPNANSVAW NTQCEDMLCF SGGGYLNIKA STFPVHRQKL QGFVVGYNGS
   601  KIFCLHVFSI SAVEVPQSAP MYQYLDRKLF KEAYQIACLG VTDTDWRELA MEALEGLDFE
   661  TAKKAFIRVQ DLRYLELISS IEERKKRGET NNDLFLADVF SYQGKFHEAA KLYKRSGHEN
   721  LALEMYTDLC MFEYAKDFLG SGDPKETKML ITKQADWARN IKEPKAAVEM YISAGEHVKA
   781  IEICGDHGWV DMLIDIARKL DKAEREPLLL CATYLKKLDS PGYAAETYLK MGDLKSLVQL
   841  HVETQRWDEA FALGEKHPEF KDDIYMPYAQ WLAENDRFEE AQKAFHKAGR QREAVQVLEQ
   901  LTNNAVAESR FNDAAYYYWM LSMQCLDIAQ DPAQKDTMLG KFYHFQRLAE LYHGYHAIHR
   961  HTEDPFSVHR PETLFNISRF LLHSLPKDTP SGISKVKILF TLAKQSKALG AYRLARHAYD
  1021  KLRGLYIPAR FQKSIELGTL TIRAKPFHDS EELVPLCYRC STNNPLLNNL GNVCINCRQP
  1081  FIFSASSYDV LHLVEFYLEE GITDEEAISL IDLEVLRPKR DDRQLEIANN SSQILRLVET
  1141  KDSIGDEDPF TAKLSFEQGG SEFVPVVVSR LVLRSMSRRD VLIKRWPPPL RWQYFRSLLP
  1201  DASITMCPSC FQMFHSEDYE LLVLQHGCCP YCRRCKDDPG P

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IFT122 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): 0.28
Highest tissue expression: 44 nTPM

Expression across tissuesHPA

Tissue

testis: 44 nTPM
choroid plexus: 20 nTPM
fallopian tube: 17 nTPM
ovary: 11 nTPM
parathyroid gland: 10 nTPM
cervix: 8.1 nTPM

Single-cell type

cardiomyocytes: 276 nCPM
late spermatids: 231 nCPM
early primary spermatocytes: 213 nCPM
early spermatids: 176 nCPM
late primary spermatocytes: 164 nCPM
ependymal cells: 152 nCPM

Immune cell

basophil: 3.9 nTPM
eosinophil: 2.6 nTPM
classical monocyte: 2.1 nTPM
myeloid DC: 2 nTPM
T-reg: 1.8 nTPM
total PBMC: 1.6 nTPM

Brain region

choroid plexus: 6.6 nTPM
cerebral cortex: 5.3 nTPM
basal ganglia: 5.2 nTPM
hypothalamus: 4.6 nTPM
cerebellum: 4.4 nTPM
amygdala: 4.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IFT122.

Disease | AllUniProt

Conditions IFT122 is implicated in, by any mechanism.

Cranioectodermal dysplasia 1 (CED1) MIM:218330

Disease | GeneticClinVar

93 pathogenic / likely-pathogenic of 1,092 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cranioectodermal dysplasia 1
IFT122-related disorder
Cranioectodermal dysplasia
Rod-cone dystrophy

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): 0.86
gnomAD pLI: 0
gnomAD missense Z: 0.35
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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

WD40 repeat
WD40/YVTN repeat-like-containing domain superfamily
WD40-repeat-containing domain superfamily
Intraflagellar transport protein 122/121 homolog
IFT122, second beta-propeller domain
IFT122/SMU1, beta-propeller domain
IFT122, zinc ribbon domain
Intraflagellar transport protein 122 homolog, TPR domain
IFT122 second beta-propeller
IFT122 first beta-propeller
IFT122, C-terminal zinc ribbon domain
IFT122, zinc ribbon domain
IFT122, TPR domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of IFT122 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 IFT122 as an antibody target. Whether an autoantibody or antibody against IFT122 could matter depends on whether native IFT122 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IFT122 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 IFT122 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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