Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GOLGB1 Gene

Aliases for GOLGB1 Gene

  • Golgin B1 2 3 5
  • Macrogolgin 2 3 4
  • Golgi Autoantigen, Golgin Subfamily B, Macrogolgin (With Transmembrane Signal), 1 2 3
  • Golgin B1, Golgi Integral Membrane Protein 2 3
  • 372 KDa Golgi Complex-Associated Protein 3 4
  • Golgi Integral Membrane Protein 1 2 3
  • Giantin 3 4
  • GCP372 3 4
  • Golgin Subfamily B Member 1 3
  • GOLIM1 3
  • GCP 3

External Ids for GOLGB1 Gene

Previous GeneCards Identifiers for GOLGB1 Gene

  • GC03P118042
  • GC03M121023
  • GC03M122663
  • GC03M122703
  • GC03M122681
  • GC03M122865
  • GC03M121382
  • GC03M118756

Summaries for GOLGB1 Gene

GeneCards Summary for GOLGB1 Gene

GOLGB1 (Golgin B1) is a Protein Coding gene. Diseases associated with GOLGB1 include Pedophilia and Blue Cone Monochromacy. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding.

UniProtKB/Swiss-Prot for GOLGB1 Gene

  • May participate in forming intercisternal cross-bridges of the Golgi complex.

Gene Wiki entry for GOLGB1 Gene

Additional gene information for GOLGB1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GOLGB1 Gene

Genomics for GOLGB1 Gene

GeneHancer (GH) Regulatory Elements for GOLGB1 Gene

Promoters and enhancers for GOLGB1 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
GH03J121747 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 660.9 +1.5 1538 3.3 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 GOLGB1 PIR33653 GC03P121749 IQCB1 LOC102723582 HCLS1 PIR54680 GC03M121324
GH03J122645 Enhancer 1 Ensembl ENCODE 68.7 -895.9 -895907 1.5 SMAD1 ZFP64 YY1 ZNF121 ZNF213 IKZF2 ZNF680 ZBTB11 ZC3H11A REST GOLGB1 IQCB1 SEC22A LOC102723582 ENSG00000273454 PARP14 EIF4BP8 PIR41127
GH03J121544 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 30 +204.9 204937 2.5 SMAD1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B E2F8 ZNF143 POLQ IQCB1 GOLGB1 GTF2E1 LOC102723582 STXBP5L RPL7AP11 GC03M121324
GH03J122021 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 28.8 -271.2 -271233 1.6 RB1 ZFP64 SIN3A GLIS2 EGR1 SCRT2 RCOR1 IKZF2 SP3 ZC3H11A ILDR1 GOLGB1 IQCB1 LOC102723582 RPL7AP11 ENSG00000202388 GC03M121324 LOC101927010
GH03J122362 Enhancer 1 ENCODE 42.7 -614.2 -614227 4.6 PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 LOC102723582 GOLGB1 IQCB1 SEC22A WDR5B CSTA RPL7AP11 CASR CCDC58
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GOLGB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GOLGB1 gene promoter:
  • NF-E2 p45
  • NF-E2
  • Nkx2-5
  • NF-Y
  • CBF(2)
  • S8
  • GATA-1
  • ATF
  • CRE-BP1

Genomic Locations for GOLGB1 Gene

Genomic Locations for GOLGB1 Gene
chr3:121,663,199-121,750,811
(GRCh38/hg38)
Size:
87,613 bases
Orientation:
Minus strand
chr3:121,382,046-121,468,602
(GRCh37/hg19)
Size:
86,557 bases
Orientation:
Minus strand

Genomic View for GOLGB1 Gene

Genes around GOLGB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GOLGB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GOLGB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GOLGB1 Gene

Proteins for GOLGB1 Gene

  • Protein details for GOLGB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14789-GOGB1_HUMAN
    Recommended name:
    Golgin subfamily B member 1
    Protein Accession:
    Q14789
    Secondary Accessions:
    • B2ZZ91
    • D3DN92
    • E7EP74
    • F1T0J2
    • Q14398

    Protein attributes for GOLGB1 Gene

    Size:
    3259 amino acids
    Molecular mass:
    376019 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with PLK3.
    Miscellaneous:
    • Antigen in chronic rheumatoid arthritis and in the autoimmune disease Sjoegren syndrome.

    Alternative splice isoforms for GOLGB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GOLGB1 Gene

Post-translational modifications for GOLGB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for GOLGB1 (GOLGB1/Giantin)
  • Abcam antibodies for GOLGB1

No data available for DME Specific Peptides for GOLGB1 Gene

Domains & Families for GOLGB1 Gene

Gene Families for GOLGB1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GOLGB1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GOLGB1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GOLGB1: view

No data available for UniProtKB/Swiss-Prot for GOLGB1 Gene

Function for GOLGB1 Gene

Molecular function for GOLGB1 Gene

UniProtKB/Swiss-Prot Function:
May participate in forming intercisternal cross-bridges of the Golgi complex.

Phenotypes From GWAS Catalog for GOLGB1 Gene

Gene Ontology (GO) - Molecular Function for GOLGB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA binding transcription factor activity IEA --
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 14980500
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with GOLGB1: view
genes like me logo Genes that share phenotypes with GOLGB1: view

Animal Model Products

CRISPR Products

miRNA for GOLGB1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOLGB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GOLGB1 Gene

Localization for GOLGB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GOLGB1 Gene

Golgi apparatus membrane; Single-pass type I membrane protein.

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 GOLGB1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GOLGB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
GO:0005794 Golgi apparatus IDA 22572157
GO:0005795 Golgi stack TAS 7691276
GO:0005801 cis-Golgi network IEA --
genes like me logo Genes that share ontologies with GOLGB1: view

Pathways & Interactions for GOLGB1 Gene

genes like me logo Genes that share pathways with GOLGB1: view

Gene Ontology (GO) - Biological Process for GOLGB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007030 Golgi organization TAS 7691276
GO:1905793 protein localization to pericentriolar material IMP 25205765
genes like me logo Genes that share ontologies with GOLGB1: view

No data available for SIGNOR curated interactions for GOLGB1 Gene

Drugs & Compounds for GOLGB1 Gene

(2) Drugs for GOLGB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GOLGB1: view

Transcripts for GOLGB1 Gene

mRNA/cDNA for GOLGB1 Gene

Unigene Clusters for GOLGB1 Gene

Golgin B1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOLGB1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GOLGB1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d ^ 14 ^ 15 ^
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: -
SP5:
SP6:

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for GOLGB1 Gene

GeneLoc Exon Structure for
GOLGB1
ECgene alternative splicing isoforms for
GOLGB1

Expression for GOLGB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GOLGB1 Gene

Protein differential expression in normal tissues from HIPED for GOLGB1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (12.0), Peripheral blood mononuclear cells (11.5), and Salivary gland (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GOLGB1 Gene



Protein tissue co-expression partners for GOLGB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GOLGB1 Gene:

GOLGB1

SOURCE GeneReport for Unigene cluster for GOLGB1 Gene:

Hs.213389

Evidence on tissue expression from TISSUES for GOLGB1 Gene

  • Liver(4.7)
  • Eye(4.5)
  • Nervous system(4.2)
  • Stomach(3.7)
  • Intestine(3.5)
  • Pancreas(3.4)
  • Kidney(3.3)
  • Adrenal gland(2.9)
  • Gall bladder(2.9)
  • Lung(2.9)
  • Lymph node(2.9)
  • Spleen(2.9)
  • Thyroid gland(2.9)
  • Heart(2.7)
  • Bone marrow(2.2)
  • Muscle(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with GOLGB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GOLGB1 Gene

Orthologs for GOLGB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GOLGB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GOLGB1 34 33
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GOLGB1 34 33
  • 89.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GOLGB1 34 33
  • 87.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Golgb1 16 34 33
  • 79.81 (n)
rat
(Rattus norvegicus)
Mammalia Golgb1 33
  • 79.19 (n)
oppossum
(Monodelphis domestica)
Mammalia GOLGB1 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GOLGB1 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves GOLGB1 34 33
  • 61.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GOLGB1 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6338 33
zebrafish
(Danio rerio)
Actinopterygii golgb1 34
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C02F12.7 35
  • 22 (a)
Species where no ortholog for GOLGB1 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for GOLGB1 Gene

ENSEMBL:
Gene Tree for GOLGB1 (if available)
TreeFam:
Gene Tree for GOLGB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GOLGB1: view image

Paralogs for GOLGB1 Gene

No data available for Paralogs for GOLGB1 Gene

Variants for GOLGB1 Gene

Sequence variations from dbSNP and Humsavar for GOLGB1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
VAR_036096 A breast cancer sample p.Gln348His
VAR_036097 A breast cancer sample p.Ala944Gly
rs1000028156 -- 121,748,451(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000075600 -- 121,690,632(-) CTCT/CT intron_variant
rs1000095570 -- 121,710,859(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GOLGB1 Gene

Variant ID Type Subtype PubMed ID
dgv8524n54 CNV gain 21841781
esv3451038 OTHER inversion 20981092
esv3575598 CNV gain 25503493
esv3575599 CNV gain 25503493
nsv1141890 OTHER inversion 24896259
nsv477672 CNV novel sequence insertion 20440878
nsv516233 CNV gain+loss 19592680
nsv829703 CNV loss 17160897
nsv998740 CNV gain 25217958
nsv999335 CNV gain 25217958

Variation tolerance for GOLGB1 Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.98; 96.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GOLGB1 Gene

Human Gene Mutation Database (HGMD)
GOLGB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GOLGB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GOLGB1 Gene

Disorders for GOLGB1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GOLGB1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
pedophilia
  • paedophilia
blue cone monochromacy
  • bcm
gastric dilatation
  • stomach dilatation
paraphilia disorder
  • paraphilia
gastrointestinal lymphoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GOLGB1

genes like me logo Genes that share disorders with GOLGB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GOLGB1 Gene

Publications for GOLGB1 Gene

  1. The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins. (PMID: 15004235) Oka T … Krieger M (Molecular biology of the cell 2004) 2 3 22 58
  2. Polo-like kinase 3 is Golgi localized and involved in regulating Golgi fragmentation during the cell cycle. (PMID: 14980500) Ruan Q … Dai W (Experimental cell research 2004) 3 4 22 58
  3. Macrogolgin--a new 376 kD Golgi complex outer membrane protein as target of antibodies in patients with rheumatic diseases and HIV infections. (PMID: 8198703) Seelig HP … Renz M (Journal of autoimmunity 1994) 3 4 22 58
  4. Giantin, a novel conserved Golgi membrane protein containing a cytoplasmic domain of at least 350 kDa. (PMID: 7691276) Linstedt AD … Hauri HP (Molecular biology of the cell 1993) 2 3 22 58
  5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M … Kato S (Investigative ophthalmology & visual science 2011) 3 4 58

Products for GOLGB1 Gene

Sources for GOLGB1 Gene

Content
Loading form....