GORAB
RAB6-interacting golgin
Also known as: FLJ11752, GO, GORAB_HUMAN, NTKL-BP1, SCYL1BP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5T7V8
- Gene
- GORAB
- Ensembl
- ENSG00000120370
- Chromosome
- 1
- Canonical length
- 369 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Golgi apparatus,Cytosol
OverviewNCBI Gene
This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Canonical amino-acid sequenceUniProt
369 residues, UniProt reviewed canonical sequence.
>Q5T7V8|GORAB
1 MAQGWAGFSE EELRRLKQTK DPFEPQRRLP AKKSRQQLQR EKALVEQSQK LGLQDGSTSL
61 LPEQLLSAPK QRVNVQKPPF SSPTLPSHFT LTSPVGDGQP QGIESQPKEL GLENSHDGHN
121 NVEILPPKPD CKLEKKKVEL QEKSRWEVLQ QEQRLMEEKN KRKKALLAKA IAERSKRTQA
181 ETMKLKRIQK ELQALDDMVS ADIGILRNRI DQASLDYSYA RKRFDRAEAE YIAAKLDIQR
241 KTEIKEQLTE HLCTIIQQNE LRKAKKLEEL MQQLDVEADE ETLELEVEVE RLLHEQEVES
301 RRPVVRLERP FQPAEESVTL EFAKENRKCQ EQAVSPKVDD QCGNSSSIPF LSPNCPNQEG
361 NDISAALATLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GORAB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.6
- Highest tissue expression
- 3.2 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 3.2 nTPM
- cervix: 3.1 nTPM
- epididymis: 3.1 nTPM
- ovary: 3.1 nTPM
- lymph node: 3 nTPM
- tonsil: 2.9 nTPM
Single-cell type
- pancreatic duct cells: 45 nCPM
- somatotrophs: 37 nCPM
- lactotrophs: 33 nCPM
- leydig cells: 31 nCPM
- sertoli cells: 31 nCPM
- cardiomyocytes: 29 nCPM
Immune cell
- T-reg: 5.1 nTPM
- NK-cell: 3.9 nTPM
- intermediate monocyte: 3.8 nTPM
- memory CD4 T-cell: 3.8 nTPM
- MAIT T-cell: 3.5 nTPM
- classical monocyte: 3.2 nTPM
Brain region
- hypothalamus: 2 nTPM
- white matter: 1.3 nTPM
- medulla oblongata: 1.2 nTPM
- midbrain: 1.2 nTPM
- choroid plexus: 1.1 nTPM
- spinal cord: 1.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GORAB.
Disease | AllUniProt
Conditions GORAB is implicated in, by any mechanism.
- Geroderma osteodysplasticum (GO) MIM:231070
Disease | GeneticClinVar
49 pathogenic / likely-pathogenic of 425 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Geroderma osteodysplastica
- GORAB-related disorder
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.99
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.18
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- dorsal/ventral neural tube patterning
- hair follicle morphogenesis
- non-motile cilium assembly
- positive regulation of smoothened signaling pathway
Cellular components
Protein domainsUniProt · Pfam · InterPro
- RAB6-interacting golgin
- Transcriptional activator
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GORAB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GORAB as an antibody target. Whether an autoantibody or antibody against GORAB could matter depends on whether native GORAB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GORAB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GORAB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...