Seroatlas · Human Serome Atlas

RSPH1

Radial spoke head 1 homolog

Also known as: CILD24, FLJ32753, RSP44, RSPH1_HUMAN, RSPH10A, TSGA2

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

Protein identityUniProt · HPA

UniProt accession
Q8WYR4
Gene
RSPH1
Ensembl
ENSG00000160188
Chromosome
21
Canonical length
309 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Centrosome,Basal body,Acrosome,Mid piece

OverviewNCBI Gene

This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

Canonical amino-acid sequenceUniProt

309 residues, UniProt reviewed canonical sequence.

>Q8WYR4|RSPH1
     1  MSDLGSEELE EEGENDIGEY EGGRNEAGER HGRGRARLPN GDTYEGSYEF GKRHGQGIYK
    61  FKNGARYIGE YVRNKKHGQG TFIYPDGSRY EGEWANDLRH GHGVYYYINN DTYTGEWFAH
   121  QRHGQGTYLY AETGSKYVGT WVNGQQEGTA ELIHLNHRYQ GKFLNKNPVG PGKYVFDVGC
   181  EQHGEYRLTD MERGEEEEEE ELVTVVPKWK ATQITELALW TPTLPKKPTS TDGPGQDAPG
   241  AESAGEPGEE AQALLEGFEG EMDMRPGDED ADVLREESRE YDQEEFRYDM DEGNINSEEE
   301  ETRQSDLQD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RSPH1 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)
0.46
Highest tissue expression
152 nTPM

Expression across tissuesHPA

Tissue

  • fallopian tube: 152 nTPM
  • choroid plexus: 109 nTPM
  • hypothalamus: 33 nTPM
  • basal ganglia: 33 nTPM
  • testis: 31 nTPM
  • pituitary gland: 27 nTPM

Single-cell type

  • respiratory ciliated cells: 1,690 nCPM
  • fallopian tube ciliated cells: 1,410 nCPM
  • endometrial ciliated cells: 1,007 nCPM
  • epididymal efferent duct ciliated cells: 813 nCPM
  • ependymal cells: 586 nCPM
  • late spermatids: 189 nCPM

Immune cell

  • plasmacytoid DC: 3 nTPM
  • eosinophil: 0.2 nTPM
  • naive B-cell: 0.2 nTPM
  • classical monocyte: 0.1 nTPM
  • gdT-cell: 0.1 nTPM
  • memory B-cell: 0.1 nTPM

Brain region

  • choroid plexus: 49 nTPM
  • midbrain: 37 nTPM
  • medulla oblongata: 28 nTPM
  • spinal cord: 20 nTPM
  • white matter: 16 nTPM
  • pons: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RSPH1.

Disease | AllUniProt

Conditions RSPH1 is implicated in, by any mechanism.

  • Ciliary dyskinesia, primary, 24 (CILD24) MIM:615481

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 319 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)
0.99
gnomAD pLI
0
gnomAD missense Z
0.14
DepMap mean gene effect
0.06
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 RSPH1 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 RSPH1 as an antibody target. Whether an autoantibody or antibody against RSPH1 could matter depends on whether native RSPH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RSPH1 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 RSPH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RSPH1. 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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