Seroatlas · Human Serome Atlas

RSPH4A

Radial spoke head protein 4 homolog A

Also known as: CILD11, dJ412I7.1, FLJ37974, RSH4A_HUMAN, RSHL3, RSPH6B

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

Protein identityUniProt · HPA

UniProt accession
Q5TD94
Gene
RSPH4A
Ensembl
ENSG00000111834
Chromosome
6
Canonical length
716 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Connecting piece,Flagellar centriole,Annulus

OverviewNCBI Gene

This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

716 residues, UniProt reviewed canonical sequence.

>Q5TD94|RSPH4A
     1  MEDSTSPKQE KENQEELGET RRPWEGKTAA SPQYSEPESS EPLEAKQGPE TGRQSRSSRP
    61  WSPQSRAKTP LGGPAGPETS SPAPVSPREP SSSPSPLAPA RQDLAAPPQS DRTTSVIPEA
   121  GTPYPDPLEQ SSDKRESTPH HTSQSEGNTF QQSQQPKPHL CGRRDVSYNN AKQKELRFDV
   181  FQEEDSNSDY DLQQPAPGGS EVAPSMLEIT IQNAKAYLLK TSSNSGFNLY DHLSNMLTKI
   241  LNERPENAVD IFENISQDVK MAHFSKKFDA LQNENELLPT YEIAEKQKAL FLQGHLEGVD
   301  QELEDEIAEN ALPNVMESAF YFEQAGVGLG TDETYRIFLA LKQLTDTHPI QRCRFWGKIL
   361  GLEMNYIVAE VEFREGEDEE EVEEEDVAEE RDNGESEAHE DEEDELPKSF YKAPQAIPKE
   421  ESRTGANKYV YFVCNEPGRP WVKLPPVIPA QIVIARKIKK FFTGRLDAPI ISYPPFPGNE
   481  SNYLRAQIAR ISAGTHVSPL GFYQFGEEEG EEEEEAEGGR NSFEENPDFE GIQVIDLVES
   541  LSNWVHHVQH ILSQGRCNWF NSIQKNEEEE EEEDEEKDDS DYIEQEVGLP LLTPISEDLE
   601  IQNIPPWTTR LSSNLIPQYA IAVLQSNLWP GAYAFSNGKK FENFYIGWGH KYSPDNYTPP
   661  VPPPVYQEYP SGPEITEMDD PSVEEEQAFR AAQEAVLLAA ENEESEEDED EEDDYD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RSPH4A 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)
0.49
Highest tissue expression
35 nTPM

Expression across tissuesHPA

Tissue

  • fallopian tube: 35 nTPM
  • choroid plexus: 22 nTPM
  • retina: 5.6 nTPM
  • lung: 4.3 nTPM
  • pituitary gland: 4 nTPM
  • hypothalamus: 2.6 nTPM

Single-cell type

  • respiratory ciliated cells: 317 nCPM
  • fallopian tube ciliated cells: 263 nCPM
  • endometrial ciliated cells: 109 nCPM
  • epididymal efferent duct ciliated cells: 93 nCPM
  • ependymal cells: 91 nCPM
  • late primary spermatocytes: 38 nCPM

Immune cell

  • basophil: 0.2 nTPM
  • eosinophil: 0.1 nTPM
  • gdT-cell: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 46 nTPM
  • medulla oblongata: 14 nTPM
  • midbrain: 14 nTPM
  • spinal cord: 10 nTPM
  • white matter: 6.4 nTPM
  • hypothalamus: 5.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RSPH4A.

Disease | AllUniProt

Conditions RSPH4A is implicated in, by any mechanism.

  • Ciliary dyskinesia, primary, 11 (CILD11) MIM:612649

Disease | GeneticClinVar

57 pathogenic / likely-pathogenic of 451 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.94
gnomAD pLI
0
gnomAD missense Z
0.32
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 RSPH4A 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 RSPH4A as an antibody target. Whether an autoantibody or antibody against RSPH4A could matter depends on whether native RSPH4A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RSPH4A 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 RSPH4A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RSPH4A. 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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