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Gene

CTDP1

CTD phosphatase 1

Summary

Cytogenetic location
18q23
Coordinates
Chromosome 18: 79,679,803–79,754,503 (GRCh38)
Exons
13 exons across 74.7 kb
Protein
961 amino acids
Inheritance
Autosomal recessive
Also known as
FCP1
MANE Select transcript
ENST00000613122.5NM_004715.5
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 report relevant to this gene

    • 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.

        • 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 CTDP1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Stretches short reads find hard
    Chromosome 18, with a bracket where CTDP1 sits. CTDP1 and 10 genes near it on chromosome 18, from 79,217,153 to 80,217,152.Chromosome 1818q23p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2379.4 Mb79.6 Mb79.8 Mb80 Mb80.2 MbATP9B: 79,069,259–79,378,391, forward strandATP9BNFATC1: 79,395,856–79,531,338, forward strandNFATC1CTDP1: 79,679,803–79,754,503, forward strandCTDP1KCNG2: 79,797,904–79,900,184, forward strandKCNG2SLC66A2: 79,901,157–79,951,677, reverse strandSLC66A2HSBP1L1: 79,964,582–79,970,823, forward strandHSBP1L1TXNL4A: 79,970,691–80,033,949, reverse strandTXNL4A: 80,034,346–80,097,088, forward strandRBFA: 80,034,389–80,050,651, forward strandRBFAADNP2: 80,109,262–80,147,523, forward strandADNP2PARD6G: 80,157,232–80,247,594, reverse strandPARD6GDiagram of CTDP1: 13 exons on the forward strand of chromosome 18Exon 1: 79,679,803–79,680,261, 459 basesExon 2: 79,695,225–79,695,308, 84 basesExon 3: 79,695,977–79,696,070, 94 basesExon 4: 79,697,860–79,697,988, 129 basesExon 5: 79,704,767–79,704,917, 151 basesExon 6: 79,710,346–79,710,436, 91 basesExon 7: 79,712,972–79,713,138, 167 basesExon 8: 79,714,491–79,715,528, 1,038 basesExon 9: 79,717,535–79,717,676, 142 basesExon 10: 79,717,810–79,718,016, 207 basesExon 11: 79,728,907–79,729,069, 163 basesExon 12: 79,736,355–79,736,521, 167 basesExon 13: 79,753,652–79,754,503, 852 bases124681012135′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 3.7 kb of the gene's 74.7 kb; 2,886 of those bases code for the protein.

    How a genome test reads CTDP1

    1

    position in CTDP1 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 74.7 kb of CTDP1, introns included, not only the 3.7 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.). CTDP1 gene: CTD phosphatase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ctdp1

    Vancouver

    Dante Labs. CTDP1 gene: CTD phosphatase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ctdp1

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