Seroatlas · Human Serome Atlas

CSPP1

Centrosome and spindle pole-associated protein 1

Also known as: CSPP, CSPP-L, CSPP1_HUMAN, FLJ22490, JBTS21

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

Protein identityUniProt · HPA

UniProt accession: Q1MSJ5
Gene: CSPP1
Ensembl: ENSG00000104218
Chromosome: 8
Canonical length: 1256 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Primary cilium,Centriolar satellite,Centrosome,Basal body

OverviewNCBI Gene

This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

Canonical amino-acid sequenceUniProt

1256 residues, UniProt reviewed canonical sequence.

>Q1MSJ5|CSPP1
     1  MLFPLQVAAV TSSVRDDPLE HCVSPRTRAR SPEICKMADN LDEFIEEQKA RLAEDKAELE
    61  SDPPYMEMKG KLSAKLSENS KILISMAKEN IPPNSQQTRG SLGIDYGLSL PLGEDYERKK
   121  HKLKEELRQD YRRYLTQGIT QGKRKKNFLS TSETDPSTLG VSLPIGERLS AKERLKLERN
   181  KEYNQFLRGK EESSEKFRQV EKSTEPKSQR NKKPIGQVKP DLTSQIQTSC ENSEGPRKDV
   241  LTPSEAYEEL LNQRRLEEDR YRQLDDEIEL RNRRIIKKAN EEVGISNLKH QRFASKAGIP
   301  DRRFHRFNED RVFDRRYHRP DQDPEVSEEM DERFRYESDF DRRLSRVYTN DRMHRNKRGN
   361  MPPMEHDGDV IEQSNIRISS AENKSAPDNE TSKSANQDTC SPFAGMLFGG EDRELIQRRK
   421  EKYRLELLEQ MAEQQRNKRR EKDLELRVAA SGAQDPEKSP DRLKQFSVAP RHFEEMIPPE
   481  RPRIAFQTPL PPLSAPSVPP IPSVHPVPSQ NEDLRSGLSS ALGEMVSPRI APLPPPPLLP
   541  PLATNYRTPY DDAYYFYGSR NTFDPSLAYY GSGMMGVQPA AYVSAPVTHQ LAQPVVNTVG
   601  QNELKITSDQ VINSGLIFED KPKPSKQSLQ SYQEALQQQI REREERRKKE REEKEEYEAK
   661  LEAEMRTYNP WGKGGGGAPL RDAKGNLITD LNRMHRQNID AYHNPDARTY EDKRAVVSLD
   721  PNLATSNAEN LEDAANKSSG HMQTQSSPFA RGNVFGEPPT ELQIKQQELY KNFLRFQIEE
   781  KKQREEAERE RLRIAEEKEE RRLAEQRARI QQEYEEEQEK KREKEEEQRL KNEEHIRLAE
   841  ERQKEAERKK KEEEEKYNLQ LQHYCERDNL IGEETKHMRQ PSPIVPALQN KIASKLQRPP
   901  SVDSIIRSFI HESSMSRAQS PPVPARKNQL RAEEEKKNVI MELSEMRKQL RSEERRLQER
   961  LLHMDSDDEI PIRKKERNPM DIFDMARHRL QAPVRRQSPK GLDAATFQNV HDFNELKDRD
  1021  SETRVDLKFM YLDPPRDHHT LEIQQQALLR EQQKRLNRIK MQEGAKVDLD AIPSAKVREQ
  1081  RMPRDDTSDF LKNSLLESDS AFIGAYGETY PAIEDDVLPP PSQLPSARER RRNKWKGLDI
  1141  DSSRPNVAPD GLSLKSISSV NVDELRVRNE ERMRRLNEFH NKPINTDDES SLVDPDDIMK
  1201  HIGDDGSNSV ATEPWLRPGT SETLKRFMAE QLNQEQQQIP GKPGTFTWQG LSTAHG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CSPP1 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): 0.61
Highest tissue expression: 7.9 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 7.9 nTPM
skeletal muscle: 6.9 nTPM
testis: 6.2 nTPM
placenta: 5.7 nTPM
kidney: 5.1 nTPM
parathyroid gland: 4 nTPM

Single-cell type

endometrial ciliated cells: 826 nCPM
ependymal cells: 802 nCPM
respiratory ciliated cells: 563 nCPM
podocytes: 560 nCPM
choroid plexus epithelial cells: 519 nCPM
epididymal efferent duct ciliated cells: 515 nCPM

Immune cell

T-reg: 1.1 nTPM
intermediate monocyte: 1 nTPM
naive B-cell: 1 nTPM
naive CD4 T-cell: 0.9 nTPM
basophil: 0.7 nTPM
MAIT T-cell: 0.7 nTPM

Brain region

cerebellum: 5.3 nTPM
choroid plexus: 5.1 nTPM
midbrain: 4.7 nTPM
medulla oblongata: 4.6 nTPM
thalamus: 4.3 nTPM
cerebral cortex: 4.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CSPP1.

Disease | AllUniProt

Conditions CSPP1 is implicated in, by any mechanism.

Joubert syndrome 21 (JBTS21) MIM:615636

Disease | GeneticClinVar

117 pathogenic / likely-pathogenic of 1,307 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): 0.93
gnomAD pLI: 0
gnomAD missense Z: 0.65
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% 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

Centrosome and spindle pole associated protein 1
Centrosome and spindle pole-associated protein 1, C-terminal
Centrosome and spindle pole-associated protein 1, C-terminal

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CSPP1 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 CSPP1 as an antibody target. Whether an autoantibody or antibody against CSPP1 could matter depends on whether native CSPP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CSPP1 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 CSPP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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