Seroatlas · Human Serome Atlas

IFT74

Intraflagellar transport protein 74 homolog

Also known as: CCDC2, CMG-1, CMG1, FLJ22621, IFT74_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96LB3
Gene: IFT74
Ensembl: ENSG00000096872
Chromosome: 9
Canonical length: 600 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Golgi apparatus,Centriolar satellite,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

600 residues, UniProt reviewed canonical sequence.

>Q96LB3|IFT74
     1  MASNHKSSAA RPVSRGGVGL TGRPPSGIRP LSGNIRVATA MPPGTARPGS RGCPIGTGGV
    61  LSSQIKVAHR PVTQQGLTGM KTGTKGPQRQ ILDKSYYLGL LRSKISELTT EVNKLQKGIE
   121  MYNQENSVYL SYEKRAETLA VEIKELQGQL ADYNMLVDKL NTNTEMEEVM NDYNMLKAQN
   181  DRETQSLDVI FTERQAKEKQ IRSVEEEIEQ EKQATDDIIK NMSFENQVKY LEMKTTNEKL
   241  LQELDTLQQQ LDSQNMKKES LEAEIAHSQV KQEAVLLHEK LYELESHRDQ MIAEDKSIGS
   301  PMEEREKLLK QIKDDNQEIA SMERQLTDTK EKINQFIEEI RQLDMDLEEH QGEMNQKYKE
   361  LKKREEHMDT FIETFEETKN QELKRKAQIE ANIVALLEHC SRNINRIEQI SSITNQELKM
   421  MQDDLNFKST EVQKSQSTAQ NLTSDIQRLQ LDLQKMELLE SKMTEEQHSL KSKIKQMTTD
   481  LEIYNDLPAL KSSGEEKIKK LHQERMILST HRNAFKKIME KQNIEYEALK TQLQENETHS
   541  QLTNLERKWQ HLEQNNFAMK EFIATKSQES DYQPIKKNVT KQIAEYNKTI VDALHSTSGN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IFT74 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): 0.52
Highest tissue expression: 46 nTPM

Expression across tissuesHPA

Tissue

testis: 46 nTPM
epididymis: 21 nTPM
fallopian tube: 21 nTPM
thyroid gland: 19 nTPM
parathyroid gland: 16 nTPM
choroid plexus: 15 nTPM

Single-cell type

late primary spermatocytes: 426 nCPM
respiratory ciliated cells: 242 nCPM
fallopian tube ciliated cells: 212 nCPM
choroid plexus epithelial cells: 195 nCPM
kupffer cells: 166 nCPM
thyrotrophs: 164 nCPM

Immune cell

naive B-cell: 13 nTPM
memory B-cell: 12 nTPM
NK-cell: 12 nTPM
naive CD4 T-cell: 10 nTPM
myeloid DC: 9.3 nTPM
naive CD8 T-cell: 7.8 nTPM

Brain region

choroid plexus: 30 nTPM
medulla oblongata: 12 nTPM
hypothalamus: 11 nTPM
midbrain: 10 nTPM
cerebellum: 10 nTPM
white matter: 9.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IFT74.

Disease | AllUniProt

Conditions IFT74 is implicated in, by any mechanism.

Bardet-Biedl syndrome 22 (BBS22) MIM:617119
Joubert syndrome 40 (JBTS40) MIM:619582
Spermatogenic failure 58 (SPGF58) MIM:619585

Disease | GeneticClinVar

57 pathogenic / likely-pathogenic of 659 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

IFT74-related disorder
Bardet-Biedl syndrome 22
Joubert syndrome 40
Jeune thoracic dystrophy
Bardet-Biedl syndrome

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): 0.88
gnomAD pLI: 0
gnomAD missense Z: -1.07
DepMap mean gene effect: 0
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Intraflagellar transport protein 74

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of IFT74 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 IFT74 as an antibody target. Whether an autoantibody or antibody against IFT74 could matter depends on whether native IFT74 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IFT74 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 IFT74 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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