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Aliases for GORAB Gene

Aliases for GORAB Gene

  • Golgin, RAB6 Interacting 2 3 5
  • N-Terminal Kinase-Like-Binding Protein 1 3 4
  • SCY1-Like 1-Binding Protein 1 3 4
  • RAB6-Interacting Golgin 2 3
  • SCYL1-Binding Protein 1 3 4
  • NTKL-Binding Protein 1 3 4
  • SCYL1-BP1 3 4
  • HNTKL-BP1 3 4
  • SCYL1BP1 3 4
  • NTKLBP1 3 4
  • SCY1-Like 1 Binding Protein 1 2
  • Gerodermia Osteodysplastica 2
  • Golgin, RAB6-Interacting 2
  • NTKL-BP1 4
  • GO 3

External Ids for GORAB Gene

Previous HGNC Symbols for GORAB Gene

  • SCYL1BP1

Previous GeneCards Identifiers for GORAB Gene

  • GC01P168768
  • GC01P141724

Summaries for GORAB Gene

Entrez Gene Summary for GORAB 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]

GeneCards Summary for GORAB Gene

GORAB (Golgin, RAB6 Interacting) is a Protein Coding gene. Diseases associated with GORAB include Geroderma Osteodysplasticum and Geroderma Osteodysplastica. Among its related pathways are DNA Damage Response.

Additional gene information for GORAB Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GORAB Gene

Genomics for GORAB Gene

Regulatory Elements for GORAB Gene

Enhancers for GORAB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H169707 1.2 ENCODE dbSUPER 22.1 -821.8 -821784 4.9 HDGF PKNOX1 YBX1 GLI4 ZNF2 ZBTB7B ZNF207 ZNF143 ATF7 SP3 METTL18 RN7SL333P GORAB SCYL3 C1orf112 SELL
GH01H170493 0.8 Ensembl ENCODE 23.3 -37.6 -37582 1.1 RBAK JUN FEZF1 PRDM10 GORAB RN7SL333P METTL18 LOC101928650 PRRC2C GC01P170411
GH01H170585 1.2 FANTOM5 Ensembl ENCODE 13.8 +54.8 54826 2.2 PKNOX1 STAT1 NR2F1 ZSCAN4 GATA3 MLLT1 NFE2 ATF7 GORAB LOC101928650 PRRX1 ENSG00000225545
GH01H170530 1.1 ENCODE 14.1 +0.3 250 3.2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 C1orf112 SCYL3 PRRC2C GORAB METTL18 RN7SL333P LOC101928650 ENSG00000271811
GH01H169941 1.2 VISTA 12.7 -589.5 -589526 2.7 PKNOX1 FEZF1 ZNF2 ZNF121 KLF7 TSHZ1 ZNF488 ZNF610 ZSCAN16 GLIS1 METTL18 C1orf112 GORAB SCYL3 RN7SL333P GC01P169942 GC01M169872
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GORAB on UCSC Golden Path with GeneCards custom track

Promoters for GORAB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for GORAB Gene

Genomic Locations for GORAB Gene
21,713 bases
Plus strand

Genomic View for GORAB Gene

Genes around GORAB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GORAB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GORAB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GORAB Gene

Proteins for GORAB Gene

  • Protein details for GORAB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    RAB6-interacting golgin
    Protein Accession:
    Secondary Accessions:
    • Q49A22
    • Q6P1P9
    • Q9HAE6
    • Q9Y350

    Protein attributes for GORAB Gene

    394 amino acids
    Molecular mass:
    44993 Da
    Quaternary structure:
    • Interacts with SCYL1 (By similarity). Interacts with RCHY1 and RAB6A/RAB6.

    Alternative splice isoforms for GORAB Gene


neXtProt entry for GORAB Gene

Post-translational modifications for GORAB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GORAB Gene

Domains & Families for GORAB Gene

Gene Families for GORAB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for GORAB Gene


Suggested Antigen Peptide Sequences for GORAB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GORAB family.
  • Belongs to the GORAB family.
genes like me logo Genes that share domains with GORAB: view

Function for GORAB Gene

Phenotypes From GWAS Catalog for GORAB Gene

Gene Ontology (GO) - Molecular Function for GORAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15781263
genes like me logo Genes that share ontologies with GORAB: view
genes like me logo Genes that share phenotypes with GORAB: view

Human Phenotype Ontology for GORAB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GORAB Gene

Localization for GORAB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GORAB Gene

Cytoplasm. Golgi apparatus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GORAB gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Golgi apparatus (4)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GORAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus IDA,IEA --
genes like me logo Genes that share ontologies with GORAB: view

Pathways & Interactions for GORAB Gene

SuperPathways for GORAB Gene

SuperPathway Contained pathways
1 DNA Damage Response
genes like me logo Genes that share pathways with GORAB: view

Pathways by source for GORAB Gene

1 KEGG pathway for GORAB Gene

Gene Ontology (GO) - Biological Process for GORAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031069 hair follicle morphogenesis IEA --
GO:1901622 positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA --
GO:1905515 non-motile cilium assembly IEA --
genes like me logo Genes that share ontologies with GORAB: view

No data available for SIGNOR curated interactions for GORAB Gene

Drugs & Compounds for GORAB Gene

No Compound Related Data Available

Transcripts for GORAB Gene

Unigene Clusters for GORAB Gene

Golgin, RAB6-interacting:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GORAB Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7
SP1: -
SP2: - - -
SP3: -
SP4: - - - - -
SP5: - -
SP6: - -
SP7: - - -

Relevant External Links for GORAB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GORAB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GORAB Gene

Protein differential expression in normal tissues from HIPED for GORAB Gene

This gene is overexpressed in Testis (21.7), Placenta (19.1), Stomach (14.6), and Blymphocyte (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GORAB Gene

Protein tissue co-expression partners for GORAB Gene

NURSA nuclear receptor signaling pathways regulating expression of GORAB Gene:


SOURCE GeneReport for Unigene cluster for GORAB Gene:


Evidence on tissue expression from TISSUES for GORAB Gene

  • Pancreas(4.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GORAB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GORAB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GORAB Gene

Orthologs for GORAB Gene

This gene was present in the common ancestor of animals.

Orthologs for GORAB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GORAB 33 34
  • 99.24 (n)
(Bos Taurus)
Mammalia GORAB 33 34
  • 84.82 (n)
(Canis familiaris)
Mammalia GORAB 33 34
  • 84.66 (n)
(Rattus norvegicus)
Mammalia Gorab 33
  • 80.62 (n)
(Mus musculus)
Mammalia Gorab 33 16 34
  • 79.98 (n)
(Monodelphis domestica)
Mammalia GORAB 34
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia GORAB 34
  • 62 (a)
(Gallus gallus)
Aves GORAB 33 34
  • 66.97 (n)
(Anolis carolinensis)
Reptilia GORAB 34
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gorab 33
  • 60.77 (n)
(Danio rerio)
Actinopterygii gorab 33 34
  • 58.4 (n)
zgc64162 33
fruit fly
(Drosophila melanogaster)
Insecta CG33052 34
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
Species where no ortholog for GORAB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GORAB Gene

Gene Tree for GORAB (if available)
Gene Tree for GORAB (if available)

Paralogs for GORAB Gene

No data available for Paralogs for GORAB Gene

Variants for GORAB Gene

Sequence variations from dbSNP and Humsavar for GORAB Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs119455951 Pathogenic 170,539,515(+) ATGTT(G/T)AGATT nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs119455952 Pathogenic 170,552,136(+) AGCTC(C/T)GAAAG nc-transcript-variant, reference, stop-gained
rs183596463 Pathogenic 170,544,841(+) CATAC(A/C/G/T)CTCGG nc-transcript-variant, reference, missense
rs12063774 Likely benign 170,553,527(+) TTTTT(A/T)AAAAA nc-transcript-variant, utr-variant-3-prime
rs41272499 Likely benign 170,552,996(+) GAAAC(C/T)GGAAT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GORAB Gene

Variant ID Type Subtype PubMed ID
nsv3476 CNV insertion 18451855

Variation tolerance for GORAB Gene

Residual Variation Intolerance Score: 31.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GORAB Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GORAB Gene

Disorders for GORAB Gene

MalaCards: The human disease database

(3) MalaCards diseases for GORAB Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
geroderma osteodysplasticum
  • geroderma osteodysplastica
geroderma osteodysplastica
  • geroderma osteodysplasticum
  • cementation hyperplasia
- elite association - COSMIC cancer census association via MalaCards
Search GORAB in MalaCards View complete list of genes associated with diseases


  • Geroderma osteodysplasticum (GO) [MIM:231070]: A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. {ECO:0000269 PubMed:18997784}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GORAB

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GORAB: view

No data available for Genatlas for GORAB Gene

Publications for GORAB Gene

  1. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. (PMID: 18997784) Hennies HC … Mundlos S (Nature genetics 2008) 2 3 4 60
  2. A new human gene hNTKL-BP1 interacts with hPirh2. (PMID: 15781263) Zhang L … Huo K (Biochemical and biophysical research communications 2005) 2 3 4 60
  3. Cloning and characterization of a novel gene which encodes a protein interacting with the mitosis-associated kinase-like protein NTKL. (PMID: 12783284) Di Y … Huo K (Journal of human genetics 2003) 2 3 22 60
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for GORAB Gene

Sources for GORAB Gene

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