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Gene

CSPP1

centrosome and spindle pole associated protein 1

Summary

Cytogenetic location
8q13.1-q13.2
Coordinates
Chromosome 8: 67,064,392–67,196,614 (GRCh38)
Exons
31 exons across 132.2 kb
Protein
1,226 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ22490, CSPP, JBTS21, CSPP-L
MANE Select transcript
ENST00000678616.1NM_001382391.1
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Joubert Syndrome And Related Disorders

    • Autosomal recessive

      Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

Broader groupings

  • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

    • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

      One of 57 genes linked to it

      A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CSPP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where CSPP1 sits. CSPP1 and 9 genes near it on chromosome 8, from 66,630,503 to 67,630,502.Chromosome 88q13.1-q13.2p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.366.8 Mb67 Mb67.2 Mb67.4 Mb67.6 MbVCPIP1: 66,628,487–66,667,263, reverse strandVCPIP1C8orf44-SGK3: 66,667,596–66,860,472, forward strandC8orf44-SGK3SGK3: 66,712,484–66,862,022, forward strandSGK3MCMDC2: 66,870,749–66,922,048, forward strandMCMDC2TCF24: 66,946,491–66,962,626, reverse strandTCF24PPP1R42: 66,964,099–67,056,604, reverse strandPPP1R42COPS5: 67,037,579–67,083,783, reverse strandCOPS5CSPP1: 67,064,392–67,196,614, forward strandCSPP1ARFGEF1: 67,173,511–67,343,961, reverse strandARFGEF1CPA6: 67,421,106–67,746,378, reverse strandCPA6Diagram of CSPP1: 31 exons on the forward strand of chromosome 8Exon 1: 3 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 5 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 18: 1 known disease-causing siteExon 19: 5 known disease-causing sitesExon 20: 11 known disease-causing sitesExon 21: 6 known disease-causing sitesExon 22: 4 known disease-causing sitesExon 23: 1 known disease-causing siteExon 24: 2 known disease-causing sitesExon 25: 1 known disease-causing siteExon 26: 2 known disease-causing sitesExon 27: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 29: 3 known disease-causing sitesExon 30: 3 known disease-causing sitesExon 1: 67,064,392–67,064,538, 147 basesExon 2: 67,074,243–67,074,351, 109 basesExon 3: 67,076,482–67,076,581, 100 basesExon 4: 67,086,007–67,086,110, 104 basesExon 5: 67,091,803–67,091,883, 81 basesExon 6: 67,093,543–67,093,641, 99 basesExon 7: 67,095,293–67,095,732, 440 basesExon 8: 67,103,037–67,103,135, 99 basesExon 9: 67,105,905–67,105,975, 71 basesExon 10: 67,111,972–67,112,065, 94 basesExon 11: 67,113,805–67,113,862, 58 basesExon 12: 67,114,329–67,114,370, 42 basesExon 13: 67,115,914–67,116,122, 209 basesExon 14: 67,118,248–67,118,369, 122 basesExon 15: 67,118,743–67,118,821, 79 basesExon 16: 67,131,951–67,132,080, 130 basesExon 17: 67,137,456–67,137,603, 148 basesExon 18: 67,149,783–67,149,935, 153 basesExon 19: 67,154,024–67,154,136, 113 basesExon 20: 67,158,447–67,158,596, 150 basesExon 21: 67,158,991–67,159,137, 147 basesExon 22: 67,161,811–67,161,915, 105 basesExon 23: 67,163,732–67,163,798, 67 basesExon 24: 67,164,391–67,164,508, 118 basesExon 25: 67,172,416–67,172,555, 140 basesExon 26: 67,175,296–67,175,436, 141 basesExon 27: 67,177,680–67,177,726, 47 basesExon 28: 67,179,863–67,179,926, 64 basesExon 29: 67,190,650–67,190,759, 110 basesExon 30: 67,193,464–67,193,602, 139 basesExon 31: 67,195,382–67,196,614, 1,233 bases120315′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.9 kb of the gene's 132.2 kb; 3,681 of those bases code for the protein.

How a genome test reads CSPP1

111

positions in CSPP1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 132.2 kb of CSPP1, introns included, not only the 4.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CSPP1 gene: centrosome and spindle pole associated protein 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/cspp1

Vancouver

Dante Labs. CSPP1 gene: centrosome and spindle pole associated protein 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cspp1

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