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Gene

CAVIN1

caveolae associated protein 1

Summary

Cytogenetic location
17q21.2
Coordinates
Chromosome 17: 42,402,449–42,423,256 (GRCh38)
Exons
2 exons across 20.8 kb
Protein
390 amino acids
Inheritance
Autosomal recessive
Also known as
cavin-1, CGL4
Previous symbols
PTRF
MANE Select transcript
ENST00000357037.6NM_012232.6
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

  • Lipodystrophy

    • Congenital Generalized LipodystrophyAutosomal recessive

      An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.

      • 2 GenCC submitters rate it definitive or strong

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 CAVIN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where CAVIN1 sits. CAVIN1 and 41 genes near it on chromosome 17, from 41,912,853 to 42,912,852.Chromosome 1717q21.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.342 Mb42.2 Mb42.4 Mb42.6 Mb42.8 MbACLY: 41,866,916–41,930,551, reverse strandACLYODAD4: 41,930,599–41,966,503, forward strandODAD4CNP: 41,966,729–41,977,740, forward strandCNPDNAJC7: 41,974,005–42,021,376, reverse strandDNAJC7NKIRAS2: 42,011,382–42,025,644, forward strandNKIRAS2ZNF385C: 42,025,576–42,098,479, reverse strandZNF385CC17orf113: 42,038,232–42,050,601, reverse strandC17orf113DHX58: 42,101,404–42,112,735, reverse strandKAT2A: 42,113,109–42,121,382, reverse strand: 42,119,674–42,154,916, reverse strandHSPB9: 42,122,804–42,123,352, forward strandHSPB9RAB5C: 42,124,976–42,155,044, reverse strandRAB5CKCNH4: 42,156,891–42,181,146, reverse strandKCNH4HCRT: 42,184,060–42,185,452, reverse strandHCRTGHDC: 42,188,799–42,194,513, reverse strandGHDCSTAT5B: 42,199,176–42,288,633, reverse strandSTAT5BSTAT5A: 42,287,547–42,311,943, forward strandSTAT5ASTAT3: 42,313,322–42,388,574, reverse strandSTAT3CAVIN1: 42,402,449–42,423,256, reverse strandCAVIN1ATP6V0A1: 42,458,823–42,522,582, forward strandATP6V0A1NAGLU: 42,536,216–42,544,449, forward strandNAGLUHSD17B1: 42,552,920–42,555,217, forward strandHSD17B1COASY: 42,561,467–42,566,277, forward strandCOASYMLX: 42,567,067–42,573,239, forward strandMLXPSMC3IP: 42,572,310–42,577,831, reverse strandRETREG3: 42,579,508–42,610,623, reverse strandTUBG1: 42,609,411–42,615,253, forward strandTUBG2: 42,659,223–42,667,007, forward strandTUBG2PLEKHH3: 42,667,914–42,677,064, reverse strandPLEKHH3CCR10: 42,678,889–42,683,917, reverse strandCCR10CNTNAP1: 42,682,368–42,699,993, forward strandCNTNAP1EZH1: 42,700,270–42,745,069, reverse strandEZH1RAMP2: 42,758,447–42,763,537, forward strandRAMP2VPS25: 42,773,439–42,779,600, forward strandVPS25WNK4: 42,780,593–42,797,066, forward strandWNK4COA3: 42,793,154–42,798,719, reverse strandCOA3CNTD1: 42,798,800–42,811,587, forward strandBECN1: 42,809,108–42,833,350, reverse strandBECN1PSME3: 42,824,385–42,843,760, forward strandAOC2: 42,844,574–42,850,707, forward strandAOC2AOC3: 42,851,130–42,858,130, forward strandAOC3G6PC1: 42,900,722–42,923,502, forward strandG6PC1Diagram of CAVIN1: 2 exons on the reverse strand of chromosome 17Exon 2: 5 known disease-causing sitesExon 1: 1 known disease-causing siteExon 2: 42,402,449–42,405,388, 2,940 basesExon 1: 42,422,627–42,423,256, 630 bases215′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 3.6 kb of the gene's 20.8 kb; 1,173 of those bases code for the protein.

How a genome test reads CAVIN1

6

positions in CAVIN1 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 20.8 kb of CAVIN1, introns included, not only the 3.6 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.). CAVIN1 gene: caveolae associated protein 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/cavin1

Vancouver

Dante Labs. CAVIN1 gene: caveolae associated protein 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cavin1

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