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 wit... See more...

Aliases for GORAB Gene

Aliases for GORAB Gene

  • Golgin, RAB6 Interacting 2 3 5
  • RAB6-Interacting Golgin 2 3 4
  • N-Terminal Kinase-Like-Binding Protein 1 3 4
  • SCY1-Like 1-Binding Protein 1 3 4
  • 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 Cutis Laxa, Autosomal Recessive, Type Iib. Among its related pathways are DNA Damage Response.

Additional gene information for GORAB Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GORAB Gene

Genomics for GORAB Gene

GeneHancer (GH) Regulatory Elements for GORAB Gene

Promoters and enhancers for GORAB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J170530 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 773.3 +0.3 279 3.6 E2F8 FOXK2 SIN3A ZBTB40 LCORL SMARCE1 RBPJ POLR2A TCF7L2 ATF1 GORAB PRRC2C C1orf112 SCYL3 METTL18 RN7SL333P SELP GORAB-AS1 ENSG00000271811
GH01J169707 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 31.3 -822.4 -822427 6.2 ZNF785 ZNF24 CTCF TRIM22 ELF1 RELA RAD21 MTA3 ZNF652 IKZF1 SELL lnc-SELE-1 METTL18 C1orf112 RN7SL333P SCYL3 GORAB SELP F5 DPT
GH01J169793 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11 -736.8 -736821 3 E2F8 ZNF24 ZBTB40 SIX5 RBPJ POLR2A NR2F6 ATF1 CREB1 HCFC1 METTL18 C1orf112 SCYL3 RN7SL333P SELP GORAB BLZF1 F5 KIFAP3 RF00017-389
GH01J170562 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 18.9 +31.5 31479 3.6 ZNF148 MAFK ZNF687 PRDM1 FOSL2 IKZF1 POLR2A ZNF512 IKZF2 CHD2 GORAB GORAB-AS1 KIFAP3 piR-52294-008 ENSG00000225545
GH01J170493 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 23.3 -37.3 -37322 2 PRDM10 RBAK JUN FEZF1 GORAB RN7SL333P METTL18 GORAB-AS1 PRRC2C piR-39341-024
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GORAB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GORAB gene promoter:
  • AML1a
  • ATF-2
  • FOXD3
  • FOXL1
  • IRF-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for GORAB Gene

Genomic Locations for GORAB Gene
chr1:170,532,122-170,553,834
(GRCh38/hg38)
Size:
21,713 bases
Orientation:
Plus strand
chr1:170,501,263-170,522,974
(GRCh37/hg19)
Size:
21,712 bases
Orientation:
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:
    Q5T7V8-GORAB_HUMAN
    Recommended name:
    RAB6-interacting golgin
    Protein Accession:
    Q5T7V8
    Secondary Accessions:
    • Q49A22
    • Q6P1P9
    • Q9HAE6
    • Q9Y350

    Protein attributes for GORAB Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GORAB Gene

GenScript: Design optimal peptide antigens:
  • SCY1-like 1-binding protein 1 (GORAB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T7V8

UniProtKB/Swiss-Prot:

GORAB_HUMAN :
  • Belongs to the GORAB family.
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GORAB

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

COMPARTMENTS
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
golgi apparatus 5
nucleus 4
cytosol 4
mitochondrion 0
endoplasmic reticulum 0

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 IEA,IDA --
genes like me logo Genes that share ontologies with GORAB: view

Pathways & Interactions for GORAB Gene

PathCards logo

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GORAB

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
GORAB
ECgene alternative splicing isoforms for
GORAB

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, MaxQB, and MOPED for GORAB Gene



Protein tissue co-expression partners for GORAB Gene

NURSA nuclear receptor signaling pathways regulating expression of GORAB Gene:

GORAB

SOURCE GeneReport for Unigene cluster for GORAB Gene:

Hs.183702

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
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • 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
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia GORAB 33 32
  • 99.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GORAB 33 32
  • 84.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GORAB 33 32
  • 84.66 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gorab 32
  • 80.62 (n)
mouse
(Mus musculus)
Mammalia Gorab 17 33 32
  • 79.98 (n)
oppossum
(Monodelphis domestica)
Mammalia GORAB 33
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GORAB 33
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves GORAB 33 32
  • 66.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GORAB 33
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gorab 32
  • 60.77 (n)
zebrafish
(Danio rerio)
Actinopterygii gorab 33 32
  • 58.4 (n)
OneToOne
zgc64162 32
fruit fly
(Drosophila melanogaster)
Insecta CG33052 33
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 37 (a)
OneToOne
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

ENSEMBL:
Gene Tree for GORAB (if available)
TreeFam:
Gene Tree for GORAB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GORAB: view image

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 Variation AA Info Type
rs1085307068 likely-pathogenic, Geroderma osteodysplastica 170,539,555(+) AGA/A 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs119455951 pathogenic, Geroderma osteodysplastica 170,539,515(+) G/A/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs119455952 pathogenic, Geroderma osteodysplastica 170,552,136(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs12063774 likely-benign, Geroderma osteodysplastica 170,553,527(+) A/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs149924639 uncertain-significance, Geroderma osteodysplastica 170,552,071(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for GORAB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GORAB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
geroderma osteodysplasticum
  • go
cutis laxa, autosomal recessive, type iib
  • arcl2b
autosomal recessive cutis laxa type iii
  • progeroid syndrome of de barsy
hypercementosis
  • cementation hyperplasia
cutis laxa
  • loose skin
- elite association - COSMIC cancer census association via MalaCards
Search GORAB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GORAB_HUMAN
  • 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.

Additional Disease Information for GORAB

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 56
  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 56
  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 23 56
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for GORAB Gene

Sources for GORAB Gene