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Gene

SAR1B

secretion associated Ras related GTPase 1B

Summary

Cytogenetic location
5q31.1
Coordinates
Chromosome 5: 134,601,149–134,632,828 (GRCh38)
Exons
7 exons across 31.7 kb
Protein
198 amino acids
Inheritance
Autosomal recessive
Previous symbols
SARA2
MANE Select transcript
ENST00000402673.7NM_016103.4
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

  • Hereditary Hypolipoproteinemias

    • HypobetalipoproteinemiaAutosomal recessive

      Includes abetalipoproteinemia (MTTP), familial hypobetalipoproteinemia (APOB, ANGPTL3) and chylomicron retention disease (SAR1B); severe forms cause fat malabsorption and vitamin E deficiency leading to nerve and retinal damage, while mild carrier forms can simply lower LDL cholesterol and may increase liver fat.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows a low-fat diet with high-dose vitamin E and other fat-soluble vitamins in the severe forms, which can prevent or limit nerve and eye damage.

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 SAR1B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where SAR1B sits. SAR1B and 18 genes near it on chromosome 5, from 134,116,989 to 135,116,988.Chromosome 55q31.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3134.2 Mb134.4 Mb134.6 Mb134.8 Mb135 MbTCF7: 134,114,645–134,151,865, forward strandTCF7SKP1: 134,145,693–134,177,911, reverse strandSKP1: 134,157,088–134,225,861, reverse strandPPP2CA: 134,193,967–134,226,219, reverse strandPPP2CA: 134,196,905–134,371,044, reverse strandCDKL3: 134,286,350–134,371,047, reverse strandCDKL3UBE2B: 134,371,174–134,394,447, forward strandUBE2BXTBD1: 134,373,327–134,411,902, reverse strandXTBD1JADE2: 134,523,979–134,583,230, forward strandJADE2SAR1B: 134,601,149–134,632,828, reverse strandSAR1BSEC24A: 134,648,587–134,727,911, forward strandSEC24ACAMLG: 134,737,608–134,752,705, forward strandCAMLGDDX46: 134,758,771–134,831,121, forward strandDDX46: 134,818,916–134,855,133, forward strandC5orf24: 134,845,680–134,859,735, forward strandC5orf24TXNDC15: 134,874,308–134,902,952, forward strandTXNDC15PCBD2: 134,905,039–135,007,959, forward strandPCBD2CATSPER3: 134,967,907–135,011,696, forward strandCATSPER3PITX1: 135,027,734–135,034,813, reverse strandPITX1Diagram of SAR1B: 7 exons on the reverse strand of chromosome 5Exon 7: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 7: 134,601,149–134,607,066, 5,918 basesExon 6: 134,608,372–134,608,503, 132 basesExon 5: 134,609,571–134,609,674, 104 basesExon 4: 134,612,691–134,612,756, 66 basesExon 3: 134,620,933–134,621,052, 120 basesExon 2: 134,623,962–134,624,037, 76 basesExon 1: 134,632,728–134,632,828, 101 bases76543215′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 6.5 kb of the gene's 31.7 kb; 597 of those bases code for the protein.

How a genome test reads SAR1B

6

positions in SAR1B 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 31.7 kb of SAR1B, introns included, not only the 6.5 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.). SAR1B gene: secretion associated Ras related GTPase 1B. Retrieved 17 October 2026, from https://dantelabs.com/genes/sar1b

Vancouver

Dante Labs. SAR1B gene: secretion associated Ras related GTPase 1B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sar1b

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