Gene
ANAPC1
anaphase promoting complex subunit 1
- HGNC 19988↗(opens in a new tab)
- Ensembl gene ENSG00000153107↗(opens in a new tab)
- NCBI Gene 64682↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q13
- Coordinates
- Chromosome 2: 111,767,640–111,884,193 (GRCh38)
- Exons
- 48 exons across 116.6 kb
- Protein
- 1,944 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- MCPR, TSG24, APC1
- MANE Select transcript
- ENST00000341068.8NM_022662.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Rothmund-Thomson Syndrome
- Autosomal recessive
A genodermatosis with poikiloderma, sparse hair, small stature, skeletal abnormalities and, in type 2 (RECQL4), an increased risk of osteosarcoma and skin cancer.
- ClinGen rates the link moderate
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Awareness of bone pain or swelling as possible signs of osteosarcoma, skin checks and sun protection; carriers have no expected health effects.
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 ANAPC1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 7.8 kb of the gene's 116.6 kb; 5,835 of those bases code for the protein.
How a genome test reads ANAPC1
2
positions in ANAPC1 where ClinVar classes a change as pathogenic or likely pathogenic
2 of them (100%) fall in regions short reads find hard.
- Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 116.6 kb of ANAPC1, introns included, not only the 7.8 kb of exons.
Genes linked to the same conditions
Traits linked to ANAPC1
The Human Phenotype Ontology lists these as features of the rare conditions ANAPC1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Metaphyseal striations
- Plantar hyperkeratosis
- Abnormal ulnar metaphysis morphology
- Abnormality of the radial head
- Absent kneecap
- Fused finger bones
- Increased bone density in wide portion of long bone
- Outward bow-leggedness
Show 3 more traits
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). ANAPC1 gene: anaphase promoting complex subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/anapc1
Dante Labs. ANAPC1 gene: anaphase promoting complex subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/anapc1
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