Seroatlas · Human Serome Atlas

RSPRY1

RING finger and SPRY domain-containing protein 1

Also known as: KIAA1972, RSPRY_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96DX4
Gene
RSPRY1
Ensembl
ENSG00000159579
Chromosome
16
Canonical length
576 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Secretome location
Secreted to blood

OverviewNCBI Gene

This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Canonical amino-acid sequenceUniProt

576 residues, UniProt reviewed canonical sequence.

>Q96DX4|RSPRY1
     1  MIVFGWAVFL ASRSLGQGLL LTLEEHIAHF LGTGGAATTM GNSCICRDDS GTDDSVDTQQ
    61  QQAENSAVPT ADTRSQPRDP VRPPRRGRGP HEPRRKKQNV DGLVLDTLAV IRTLVDNDQE
   121  PPYSMITLHE MAETDEGWLD VVQSLIRVIP LEDPLGPAVI TLLLDECPLP TKDALQKLTE
   181  ILNLNGEVAC QDSSHPAKHR NTSAVLGCLA EKLAGPASIG LLSPGILEYL LQCLKLQSHP
   241  TVMLFALIAL EKFAQTSENK LTISESSISD RLVTLESWAN DPDYLKRQVG FCAQWSLDNL
   301  FLKEGRQLTY EKVNLSSIRA MLNSNDVSEY LKISPHGLEA RCDASSFESV RCTFCVDAGV
   361  WYYEVTVVTS GVMQIGWATR DSKFLNHEGY GIGDDEYSCA YDGCRQLIWY NARSKPHIHP
   421  CWKEGDTVGF LLDLNEKQMI FFLNGNQLPP EKQVFSSTVS GFFAAASFMS YQQCEFNFGA
   481  KPFKYPPSMK FSTFNDYAFL TAEEKIILPR HRRLALLKQV SIRENCCSLC CDEVADTQLK
   541  PCGHSDLCMD CALQLETCPL CRKEIVSRIR QISHIS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RSPRY1 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
21 nTPM

Expression across tissuesHPA

Tissue

  • testis: 21 nTPM
  • liver: 19 nTPM
  • choroid plexus: 18 nTPM
  • pancreas: 18 nTPM
  • thymus: 16 nTPM
  • thyroid gland: 16 nTPM

Single-cell type

  • early spermatids: 149 nCPM
  • choroid plexus epithelial cells: 111 nCPM
  • early primary spermatocytes: 90 nCPM
  • gonadotrophs: 89 nCPM
  • lactotrophs: 89 nCPM
  • somatotrophs: 88 nCPM

Immune cell

  • non-classical monocyte: 37 nTPM
  • eosinophil: 30 nTPM
  • T-reg: 30 nTPM
  • basophil: 28 nTPM
  • NK-cell: 27 nTPM
  • naive CD4 T-cell: 26 nTPM

Brain region

  • choroid plexus: 41 nTPM
  • white matter: 25 nTPM
  • thalamus: 24 nTPM
  • medulla oblongata: 22 nTPM
  • basal ganglia: 21 nTPM
  • midbrain: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RSPRY1.

Disease | AllUniProt

Conditions RSPRY1 is implicated in, by any mechanism.

  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA) MIM:616723

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 213 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

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)
0.19
gnomAD pLI
1
gnomAD missense Z
3.36
DepMap mean gene effect
-0.09
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

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RSPRY1 as an antibody target. Whether an autoantibody or antibody against RSPRY1 could matter depends on whether native RSPRY1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RSPRY1 is annotated as secreted, so native RSPRY1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label RSPRY1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RSPRY1. 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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