Seroatlas · Human Serome Atlas

RSPH9

Radial spoke head protein 9 homolog

Also known as: C6orf206, CILD12, FLJ30845, MRPS18AL1, RSPH9_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H1X1
Gene: RSPH9
Ensembl: ENSG00000172426
Chromosome: 6
Canonical length: 276 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Acrosome,Equatorial segment,Mid piece,Principal piece,End piece

OverviewNCBI Gene

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

276 residues, UniProt reviewed canonical sequence.

>Q9H1X1|RSPH9
     1  MDADSLLLSL ELASGSGQGL SPDRRASLLT SLMLVKRDYR YDRVLFWGRI LGLVADYYIA
    61  QGLSEDQLAP RKTLYSLNCT EWSLLPPATE EMVAQSSVVK GRFMGDPSYE YEHTELQKVN
   121  EGEKVFEEEI VVQIKEETRL VSVIDQIDKA VAIIPRGALF KTPFGPTHVN RTFEGLSLSE
   181  AKKLSSYFHF REPVELKNKT LLEKADLDPS LDFMDSLEHD IPKGSWSIQM ERGNALVVLR
   241  SLLWPGLTFY HAPRTKNYGY VYVGTGEKNM DLPFML

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RSPH9 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: 15 nTPM

Expression across tissuesHPA

Tissue

testis: 15 nTPM
choroid plexus: 8.1 nTPM
fallopian tube: 7.8 nTPM
pituitary gland: 3.2 nTPM
hypothalamus: 2.5 nTPM
lung: 2.1 nTPM

Single-cell type

respiratory ciliated cells: 457 nCPM
late primary spermatocytes: 257 nCPM
fallopian tube ciliated cells: 253 nCPM
early spermatids: 205 nCPM
platelets: 123 nCPM
endometrial ciliated cells: 111 nCPM

Immune cell

naive B-cell: 1.6 nTPM
neutrophil: 1 nTPM
total PBMC: 0.8 nTPM
memory B-cell: 0.7 nTPM
classical monocyte: 0.6 nTPM
gdT-cell: 0.6 nTPM

Brain region

choroid plexus: 9.8 nTPM
midbrain: 6.1 nTPM
hypothalamus: 5.9 nTPM
cerebellum: 5.6 nTPM
medulla oblongata: 5.6 nTPM
amygdala: 3.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RSPH9.

Disease | AllUniProt

Conditions RSPH9 is implicated in, by any mechanism.

Ciliary dyskinesia, primary, 12 (CILD12) MIM:612650

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 237 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary ciliary dyskinesia
Primary ciliary dyskinesia 12
RSPH9-related disorder
Combined immunodeficiency with skin granulomas

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): 1.63
gnomAD pLI: 0
gnomAD missense Z: 0.24
DepMap mean gene effect: -0.36
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

Radial spoke head protein 9 homolog

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RSPH9 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 RSPH9 as an antibody target. Whether an autoantibody or antibody against RSPH9 could matter depends on whether native RSPH9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RSPH9 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 RSPH9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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