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
  • SCYL1BP1 3 4
  • NTKLBP1 3 4
  • SCY1-Like 1 Binding Protein 1 2
  • Gerodermia Osteodysplastica 2
  • Golgin, RAB6-Interacting 2
  • SCYL1-BP1 4
  • HNTKL-BP1 4
  • 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 Autosomal Recessive Cutis Laxa Type Iii. 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
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GORAB

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 intracellular 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

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
nucleus 5
cytosol 5
golgi apparatus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Golgi apparatus (4)
  • Nucleoli (4)
  • Nucleoplasm (4)
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

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 IBA 21873635
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

mRNA/cDNA for GORAB Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

Expression for GORAB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GORAB 31 30
  • 84.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GORAB 31 30
  • 84.66 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gorab 30
  • 80.62 (n)
mouse
(Mus musculus)
Mammalia Gorab 17 31 30
  • 79.98 (n)
oppossum
(Monodelphis domestica)
Mammalia GORAB 31
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GORAB 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves GORAB 31 30
  • 66.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GORAB 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gorab 30
  • 60.77 (n)
zebrafish
(Danio rerio)
Actinopterygii gorab 31 30
  • 58.4 (n)
OneToOne
zgc64162 30
fruit fly
(Drosophila melanogaster)
Insecta CG33052 31
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GORAB Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
2653 Pathogenic: Geroderma osteodysplastica 170,544,850(+) G/C THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
712025 Likely Benign: not provided 170,539,251(+) C/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
725266 Likely Benign: not provided 170,542,563(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
733680 Likely Benign: not provided 170,552,022(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
736121 Likely Benign: not provided 170,552,132(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GORAB Gene

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

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

- 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 54
  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 54
  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 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for GORAB Gene

Sources for GORAB Gene