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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.

No data available for 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
GH01F170530 1 ENCODE 23.9 +0.3 250 3.2 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 GORAB LOC101928650 ENSG00000271811
GH01F170562 1.4 Ensembl ENCODE 23 +31.3 31279 2.4 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 GORAB LOC101928650 KIFAP3 ENSG00000225545
GH01F170556 0.2 ENCODE 20 +25.0 24969 0.5 GORAB LOC101928650 PRRX1 ENSG00000225545
GH01F170585 1.3 FANTOM5 Ensembl ENCODE 13.8 +54.8 54826 2.2 PKNOX1 STAT1 SIN3A NFE2 MLLT1 GORAB LOC101928650 PRRX1 ENSG00000225545
GH01F169707 0.2 ENCODE 13.4 -821.8 -821784 4.9 HDGF ELF3 TBP PKNOX1 NFXL1 YBX1 GLI4 ZNF2 RAD21 ZNF366 METTL18 GORAB RN7SL333P C1orf112 SELL
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000547431 279 3200 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for GORAB Gene

Chromosome:
1
Start:
170,532,122 bp from pter
End:
170,553,834 bp from pter
Size:
21,713 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

Protein Domains for GORAB Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GORAB Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for GORAB Gene

Function 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

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for GORAB Gene COMPARTMENTS Subcellular localization image for GORAB gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 3
endoplasmic reticulum 1
mitochondrion 1

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,IDA --
GO:0005794 Golgi apparatus IDA --
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

Transcripts for GORAB Gene

Unigene Clusters for GORAB Gene

Golgin, RAB6-interacting:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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:

GORAB

SOURCE GeneReport for Unigene cluster for GORAB Gene:

Hs.183702
genes like me logo Genes that share expression patterns with GORAB: view

Primer Products

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 34 35
  • 99.24 (n)
cow
(Bos Taurus)
Mammalia GORAB 34 35
  • 84.82 (n)
dog
(Canis familiaris)
Mammalia GORAB 34 35
  • 84.66 (n)
rat
(Rattus norvegicus)
Mammalia Gorab 34
  • 80.62 (n)
mouse
(Mus musculus)
Mammalia Gorab 34 16 35
  • 79.98 (n)
oppossum
(Monodelphis domestica)
Mammalia GORAB 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GORAB 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves GORAB 34 35
  • 66.97 (n)
lizard
(Anolis carolinensis)
Reptilia GORAB 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gorab 34
  • 60.77 (n)
zebrafish
(Danio rerio)
Actinopterygii gorab 34 35
  • 58.4 (n)
zgc64162 34
fruit fly
(Drosophila melanogaster)
Insecta CG33052 35
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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/G/T)CTCGG nc-transcript-variant, reference, missense
rs386352310 Uncertain significance 170,552,443(+) CATTT(C/G/T)AGCTG nc-transcript-variant, reference, missense, stop-gained
rs483352768 Uncertain significance 170,552,306(+) AGTGT(C/G)ACATT nc-transcript-variant, reference, synonymous-codon

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)
GORAB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GORAB

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: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
geroderma osteodysplasticum
  • geroderma osteodysplastica
geroderma osteodysplastica
  • geroderma osteodysplasticum
hypercementosis
  • cementation hyperplasia
- 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.

Relevant External Links for GORAB

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 H.C. … Mundlos S. (Nat. Genet. 2008) 2 3 4 64
  2. A new human gene hNTKL-BP1 interacts with hPirh2. (PMID: 15781263) Zhang L. … Huo K. (Biochem. Biophys. Res. Commun. 2005) 2 3 4 64
  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. (J. Hum. Genet. 2003) 2 3 22 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for GORAB Gene

Sources for GORAB Gene

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