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Gene

GORAB

golgin, RAB6 interacting

Summary

Cytogenetic location
1q24.2
Coordinates
Chromosome 1: 170,532,166–170,553,834 (GRCh38)
Exons
5 exons across 21.7 kb
Protein
369 amino acids
Also known as
FLJ11752, NTKL-BP1, GO
Previous symbols
SCYL1BP1
MANE Select transcript
ENST00000367763.8NM_152281.3
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

  • Cutis Laxa

    • Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.

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

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

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

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

Broader groupings

  • Congenital Disorders of Glycosylation

    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

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

How GORAB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where GORAB sits. GORAB and 4 genes near it on chromosome 1, from 170,043,000 to 171,042,999.Chromosome 11q24.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44170.2 Mb170.4 Mb170.6 Mb170.8 Mb171 MbKIFAP3: 169,921,072–170,085,208, reverse strandKIFAP3NTMT2: 170,145,955–170,168,901, forward strandNTMT2GORAB: 170,532,166–170,553,834, forward strandGORABPRRX1: 170,662,728–170,739,421, forward strandPRRX1MROH9: 170,935,429–171,064,765, forward strandMROH9Diagram of GORAB: 5 exons on the forward strand of chromosome 1Exon 1: 2 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 1: 170,532,166–170,532,284, 119 basesExon 2: 170,539,210–170,539,567, 358 basesExon 3: 170,542,491–170,542,592, 102 basesExon 4: 170,544,705–170,544,845, 141 basesExon 5: 170,552,015–170,553,834, 1,820 bases123455′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 2.5 kb of the gene's 21.7 kb; 1,110 of those bases code for the protein.

How a genome test reads GORAB

13

positions in GORAB 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 21.7 kb of GORAB, introns included, not only the 2.5 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.). GORAB gene: golgin, RAB6 interacting. Retrieved 17 October 2026, from https://dantelabs.com/genes/gorab

Vancouver

Dante Labs. GORAB gene: golgin, RAB6 interacting [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gorab

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