RSPH14
Radial spoke head 14 homolog
Also known as: RSP14_HUMAN, RTDR1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UHP6
- Gene
- RSPH14
- Ensembl
- ENSG00000100218
- Chromosome
- 22
- Canonical length
- 348 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoli
OverviewNCBI Gene
This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
348 residues, UniProt reviewed canonical sequence.
>Q9UHP6|RSPH14
1 MAHSQNSLEL PININATQIT TAYGHRALPK LKEELQSEDL QTRQKALMAL CDLMHDPECI
61 YKAMNIGCME NLKALLKDSN SMVRIKTTEV LHITASHSVG RYAFLEHDIV LALSFLLNDP
121 SPVCRGNLYK AYMQLVQVPR GAQEIISKGL ISSLVWKLQV EVEEEEFQEF ILDTLVLCLQ
181 EDATEALGSN VVLVLKQKLL SANQNIRSKA ARALLNVSIS REGKKQVCHF DVIPILVHLL
241 KDPVEHVKSN AAGALMFATV ITEGKYAALE AQAIGLLLEL LHSPMTIARL NATKALTMLA
301 EAPEGRKALQ THVPTFRAME VETYEKPQVA EALQRAARIA ISVIEFKPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RSPH14 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)
- 0.26
- Highest tissue expression
- 25 nTPM
Expression across tissuesHPA
Tissue
- testis: 25 nTPM
- fallopian tube: 12 nTPM
- retina: 11 nTPM
- choroid plexus: 9.7 nTPM
- basal ganglia: 7.5 nTPM
- kidney: 6.8 nTPM
Single-cell type
- late spermatids: 416 nCPM
- early spermatids: 191 nCPM
- respiratory ciliated cells: 138 nCPM
- late primary spermatocytes: 85 nCPM
- megakaryocytes: 68 nCPM
- platelets: 63 nCPM
Immune cell
- neutrophil: 7.8 nTPM
- non-classical monocyte: 1.8 nTPM
- total PBMC: 0.6 nTPM
- naive CD4 T-cell: 0.2 nTPM
- memory B-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
Brain region
- cerebral cortex: 20 nTPM
- midbrain: 19 nTPM
- hypothalamus: 16 nTPM
- choroid plexus: 15 nTPM
- basal ganglia: 15 nTPM
- white matter: 15 nTPM
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)
- 1.13
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
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
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Armadillo
- Armadillo-like helical
- Armadillo-type fold
- Armadillo/beta-catenin-like repeat
- Radial spoke protein 14
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RSPH14 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 RSPH14 as an antibody target. Whether an autoantibody or antibody against RSPH14 could matter depends on whether native RSPH14 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RSPH14 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 RSPH14 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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