Seroatlas · Human Serome Atlas

IFT57

Intraflagellar transport protein 57 homolog

Also known as: ESRRBL1, FLJ10147, HIPPI, IFT57_HUMAN, MHS4R2

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

Protein identityUniProt · HPA

UniProt accession: Q9NWB7
Gene: IFT57
Ensembl: ENSG00000114446
Chromosome: 3
Canonical length: 429 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Golgi apparatus,Primary cilium,Primary cilium transition zone,Centriolar satellite,Basal body,Cytosol,Mid piece

OverviewNCBI Gene

Predicted to enable DNA binding activity. Acts upstream of or within apoptotic process and regulation of apoptotic process. Located in ciliary base and photoreceptor connecting cilium. Part of intraciliary transport particle B. Implicated in orofaciodigital syndrome XVIII. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

429 residues, UniProt reviewed canonical sequence.

>Q9NWB7|IFT57
     1  MTAALAVVTT SGLEDGVPRS RGEGTGEVVL ERGPGAAYHM FVVMEDLVEK LKLLRYEEEF
    61  LRKSNLKAPS RHYFALPTNP GEQFYMFCTL AAWLINKAGR PFEQPQEYDD PNATISNILS
   121  ELRSFGRTAD FPPSKLKSGY GEHVCYVLDC FAEEALKYIG FTWKRPIYPV EELEEESVAE
   181  DDAELTLNKV DEEFVEEETD NEENFIDLNV LKAQTYHLDM NETAKQEDIL ESTTDAAEWS
   241  LEVERVLPQL KVTIRTDNKD WRIHVDQMHQ HRSGIESALK ETKGFLDKLH NEITRTLEKI
   301  SSREKYINNQ LENLVQEYRA AQAQLSEAKE RYQQGNGGVT ERTRLLSEVM EELEKVKQEM
   361  EEKGSSMTDG APLVKIKQSL TKLKQETVEM DIRIGIVEHT LLQSKLKEKS NMTRNMHATV
   421  IPEPATGFY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IFT57 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): 0.48
Highest tissue expression: 44 nTPM

Expression across tissuesHPA

Tissue

testis: 44 nTPM
epididymis: 43 nTPM
lung: 38 nTPM
fallopian tube: 30 nTPM
prostate: 26 nTPM
thyroid gland: 25 nTPM

Single-cell type

late spermatids: 3,984 nCPM
early spermatids: 1,871 nCPM
late primary spermatocytes: 902 nCPM
respiratory ciliated cells: 799 nCPM
fallopian tube ciliated cells: 600 nCPM
transitional alveolar cells: 527 nCPM

Immune cell

memory B-cell: 42 nTPM
naive B-cell: 35 nTPM
non-classical monocyte: 13 nTPM
myeloid DC: 10 nTPM
memory CD4 T-cell: 7.4 nTPM
NK-cell: 6.9 nTPM

Brain region

choroid plexus: 16 nTPM
midbrain: 11 nTPM
medulla oblongata: 10 nTPM
cerebral cortex: 10 nTPM
spinal cord: 9.9 nTPM
thalamus: 9.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IFT57.

Disease | AllUniProt

Conditions IFT57 is implicated in, by any mechanism.

Orofaciodigital syndrome 18 (OFD18) MIM:617927

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 271 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Orofaciodigital syndrome 18

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): 1.1
gnomAD pLI: 0
gnomAD missense Z: 0.3
DepMap mean gene effect: -0.04
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

DNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Intra-flagellar transport protein 57
Intra-flagellar transport protein 57

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of IFT57 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 IFT57 as an antibody target. Whether an autoantibody or antibody against IFT57 could matter depends on whether native IFT57 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IFT57 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 IFT57 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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