GOLGB1 golgin B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GOLGB1provided by HGNC
Official Full Name: golgin B1provided by HGNC
Primary source: HGNC:HGNC:4429
See related: Ensembl:ENSG00000173230 MIM:602500; AllianceGenome:HGNC:4429
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GCP; GCP372; GOLIM1
Summary: Enables RNA binding activity. Involved in protein localization to pericentriolar material. Located in Golgi apparatus and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 16.1), prostate (RPKM 15.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.33

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (121663201..121749966, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (124383093..124471671, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (121382048..121468588, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

common polymorphisms of GOLGB1 are not associated with nonsyndromic cleft palate susceptibility in the Brazilian population
Title: Association between GOLGB1 tag-polymorphisms and nonsyndromic cleft palate only in the Brazilian population.
Ethanol-induced Golgi disassembly was associated with de-dimerization of the largest Golgi matrix protein giantin, along with impaired transport of selected hepatic proteins.
Title: Giantin Is Required for Post-Alcohol Recovery of Golgi in Liver Cells.
In situ proximity ligation assays of Golgi localization of alpha-mannosidase IA at giantin versus GM130-GRASP65 site, and absence or presence of N-glycans terminated with alpha3-mannose on trans-Golgi glycosyltransferases may be useful for distinguishing indolent from aggressive prostate cancer cells.
Title: Shifted Golgi targeting of glycosyltransferases and α-mannosidase IA from giantin to GM130-GRASP65 results in formation of high mannose N-glycans in aggressive prostate cancer cells.
Single nucleotide polymorphisms (SNPs) rs1035798 in RAGE gene, rs2073617 and rs2073618 in TNFRSF11B, and rs3732410 in Golgb1 will be investigated on whether there is an association with hemorrhagic stroke (HS) in Chinese population.
Title: Polymorphisms in three genes are associated with hemorrhagic stroke.
Results show that ST3Gal1 uses GM130-GRASP65 and giantin, whereas C2GnT-L uses only giantin for Golgi targeting and defective giantin dimerization in PC-3 and DU145 prostate cancer cells causes fragmentation of the Golgi and prevents its targeting.
Title: Restoration of compact Golgi morphology in advanced prostate cancer enhances susceptibility to galectin-1-induced apoptosis by modifying mucin O-glycan synthesis.
Partial depletion of giantin or of WDR34 leads to an increase in cilia length consistent with the concept that giantin acts through dynein-2.
Title: A role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2.
the spatial organization of the Golgi ribbon is mediated by giantin, which also plays a role in cargo transport and sugar modifications
Title: The golgin tether giantin regulates the secretory pathway by controlling stack organization within Golgi apparatus.
unbiased whole-genome search for genetic modifiers of stroke risk in sickle cell anemia was performed; mutation in GOLGB1 (Y1212C) and mutation in ENPP1 (K173Q) were confirmed as having significant associations with a decreased risk for stroke
Title: Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia.
Data report the characterization of a mammalian coiled-coil protein, CASP, a Golgi protein that shares with giantin a conserved histidine in its transmembrane domain.
Title: CASP, the alternatively spliced product of the gene encoding the CCAAT-displacement protein transcription factor, is a Golgi membrane protein related to giantin.
Giantin binds to Rab6A and Rab1 proteins.
Title: Giantin interacts with both the small GTPase Rab6 and Rab1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 co-localizes with the Golgi apparatus protein giantin in HIV-transfected 293T cells	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 co-localizes with the Golgi apparatus protein giantin in HIV-transfected 293T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G19747 (e-PCR)
- UniSTS:60928

A001X20 (e-PCR)
- UniSTS:60929

SHGC-37473 (e-PCR)
- UniSTS:5384

RH69909 (e-PCR)
- UniSTS:82747

IB1423 (e-PCR)
- UniSTS:46407

RH91267 (e-PCR)
- UniSTS:91746

STS-X75304 (e-PCR)
- UniSTS:41855

WI-22003 (e-PCR)
- UniSTS:50828

WIAF-2081 (e-PCR)
- UniSTS:12953

EST13C8 (e-PCR)
- UniSTS:263095

G59904 (e-PCR)
- UniSTS:137186

D3S3940 (e-PCR)
- UniSTS:68839

PMC311069P7 (e-PCR)
- UniSTS:272888

RH118950 (e-PCR)
- UniSTS:138235

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Golgi organization	TAS Traceable Author Statement more info	PubMed
involved_in protein localization to pericentriolar material	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in Golgi stack	TAS Traceable Author Statement more info	PubMed
is_active_in cis-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum-Golgi intermediate compartment	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: golgin subfamily B member 1

Names: 372 kDa Golgi complex-associated protein; giantin; golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1; golgi integral membrane protein 1; golgin B1, golgi integral membrane protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001256486.2 → NP_001243415.1 golgin subfamily B member 1 isoform 1

See identical proteins and their annotated locations for NP_001243415.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AA127633, AB371588, AB593126, BP320001

Consensus CDS

CCDS58847.1

UniProtKB/TrEMBL

C9J8Q0

Related

ENSP00000377275.3, ENST00000393667.8

Conserved Domains (4) summary

COG1196
Location:814 → 1650

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1904 → 2778

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1394 → 2326

Myosin_tail_1; Myosin tail

pfam10211
Location:1160 → 1223

Ax_dynein_light; Axonemal dynein light chain
NM_001256487.2 → NP_001243416.1 golgin subfamily B member 1 isoform 3

See identical proteins and their annotated locations for NP_001243416.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site at its 5' end and initiates translation at a downstream start codon, compared to variant 1. It also uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AA127633, AB593126, BP320001, D25542

UniProtKB/TrEMBL

C9J8Q0

Conserved Domains (4) summary

COG1196
Location:775 → 1611

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1865 → 2739

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1355 → 2287

Myosin_tail_1; Myosin tail

pfam10211
Location:1121 → 1184

Ax_dynein_light; Axonemal dynein light chain
NM_001256488.2 → NP_001243417.1 golgin subfamily B member 1 isoform 4

See identical proteins and their annotated locations for NP_001243417.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate splice site at its 5' end and initiates translation at a downstream start codon, compared to variant 1. It also lacks an internal in-frame exon and uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AA127633, AB593126, X75304

UniProtKB/TrEMBL

A0A8Q3WKA7

Conserved Domains (4) summary

COG1196
Location:734 → 1570

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1824 → 2698

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1314 → 2246

Myosin_tail_1; Myosin tail

pfam10211
Location:1080 → 1143

Ax_dynein_light; Axonemal dynein light chain
NM_001366282.2 → NP_001353211.1 golgin subfamily B member 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC119736, AC133750

Consensus CDS

CCDS93348.1

UniProtKB/TrEMBL

A0A8J9C4H3, C9J8Q0

Related

ENSP00000484083.2, ENST00000614479.5

Conserved Domains (1) summary

cl25732
Location:1317 → 2187

SMC_N; RecF/RecN/SMC N terminal domain
NM_001366283.2 → NP_001353212.1 golgin subfamily B member 1 isoform 6

Status: VALIDATED

Source sequence(s)

AC119736, AC133750

Consensus CDS

CCDS93347.1

UniProtKB/TrEMBL

A0A8Q3WKA7, E7EU81

Related

ENSP00000418231.2, ENST00000494517.6

Conserved Domains (1) summary

cl25732
Location:1276 → 2146

SMC_N; RecF/RecN/SMC N terminal domain
NM_001366284.2 → NP_001353213.1 golgin subfamily B member 1 isoform 7

Status: VALIDATED

Source sequence(s)

AC119736, AC133750

UniProtKB/TrEMBL

A0A8Q3WKA7

Conserved Domains (1) summary

cl25732
Location:1237 → 2107

SMC_N; RecF/RecN/SMC N terminal domain
NM_001389631.1 → NP_001376560.1 golgin subfamily B member 1 isoform 8

Status: VALIDATED

Source sequence(s)

AC119736, AC133750

UniProtKB/TrEMBL

A0A8Q3SHH2

Conserved Domains (2) summary

COG1196
Location:1272 → 2142

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:151 → 979

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
NM_004487.5 → NP_004478.3 golgin subfamily B member 1 isoform 2

See identical proteins and their annotated locations for NP_004478.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the 5' and 3' coding regions, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AA127633, AB593126, X75304

Consensus CDS

CCDS3004.1

UniProtKB/Swiss-Prot

B2ZZ91, D3DN92, E7EP74, F1T0J2, Q14398, Q14789

UniProtKB/TrEMBL

C9J8Q0

Related

ENSP00000341848.5, ENST00000340645.10

Conserved Domains (4) summary

COG1196
Location:809 → 1645

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1899 → 2773

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1389 → 2321

Myosin_tail_1; Myosin tail

pfam10211
Location:1155 → 1218

Ax_dynein_light; Axonemal dynein light chain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

121663201..121749966 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047447994.1 → XP_047303950.1 golgin subfamily B member 1 isoform X8
XM_047447992.1 → XP_047303948.1 golgin subfamily B member 1 isoform X7
XM_047447989.1 → XP_047303945.1 golgin subfamily B member 1 isoform X4
XM_047447988.1 → XP_047303944.1 golgin subfamily B member 1 isoform X2
XM_011512699.4 → XP_011511001.1 golgin subfamily B member 1 isoform X1

See identical proteins and their annotated locations for XP_011511001.1

UniProtKB/TrEMBL

C9J8Q0

Conserved Domains (4) summary

COG1196
Location:814 → 1650

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1904 → 2778

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1394 → 2326

Myosin_tail_1; Myosin tail

pfam10211
Location:1160 → 1223

Ax_dynein_light; Axonemal dynein light chain
XM_047447995.1 → XP_047303951.1 golgin subfamily B member 1 isoform X9

Related

ENSP00000417767.2, ENST00000489400.2
XM_006713591.3 → XP_006713654.1 golgin subfamily B member 1 isoform X8

UniProtKB/TrEMBL

H0Y867

Conserved Domains (4) summary

COG1196
Location:734 → 1570

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1824 → 2698

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1314 → 2246

Myosin_tail_1; Myosin tail

pfam10211
Location:1080 → 1143

Ax_dynein_light; Axonemal dynein light chain
XM_005247373.3 → XP_005247430.1 golgin subfamily B member 1 isoform X7

UniProtKB/TrEMBL

A0A8Q3WKA7

Conserved Domains (4) summary

COG1196
Location:773 → 1609

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1863 → 2737

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1353 → 2285

Myosin_tail_1; Myosin tail

pfam10211
Location:1119 → 1182

Ax_dynein_light; Axonemal dynein light chain
XM_047447990.1 → XP_047303946.1 golgin subfamily B member 1 isoform X5

Related

ENSP00000511618.1, ENST00000694958.1
XM_006713589.3 → XP_006713652.1 golgin subfamily B member 1 isoform X4

UniProtKB/TrEMBL

A0A8Q3SHH2

Conserved Domains (4) summary

COG1196
Location:808 → 1644

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1898 → 2772

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1388 → 2320

Myosin_tail_1; Myosin tail

pfam10211
Location:1154 → 1217

Ax_dynein_light; Axonemal dynein light chain
XM_006713588.3 → XP_006713651.1 golgin subfamily B member 1 isoform X2

UniProtKB/TrEMBL

C9J8Q0

Conserved Domains (4) summary

COG1196
Location:809 → 1645

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1899 → 2773

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1389 → 2321

Myosin_tail_1; Myosin tail

pfam10211
Location:1155 → 1218

Ax_dynein_light; Axonemal dynein light chain
XM_047447993.1 → XP_047303949.1 golgin subfamily B member 1 isoform X8
XM_017006191.2 → XP_016861680.1 golgin subfamily B member 1 isoform X7

UniProtKB/TrEMBL

A0A8Q3WKA7

Related

ENSP00000511640.1, ENST00000695008.1

Conserved Domains (4) summary

COG1196
Location:773 → 1609

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1863 → 2737

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1353 → 2285

Myosin_tail_1; Myosin tail

pfam10211
Location:1119 → 1182

Ax_dynein_light; Axonemal dynein light chain
XM_017006190.2 → XP_016861679.1 golgin subfamily B member 1 isoform X4

UniProtKB/TrEMBL

A0A8Q3SHH2

Related

ENSP00000511648.1, ENST00000695017.1

Conserved Domains (4) summary

COG1196
Location:808 → 1644

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1898 → 2772

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1388 → 2320

Myosin_tail_1; Myosin tail

pfam10211
Location:1154 → 1217

Ax_dynein_light; Axonemal dynein light chain
XM_017006189.2 → XP_016861678.1 golgin subfamily B member 1 isoform X2

UniProtKB/TrEMBL

C9J8Q0

Conserved Domains (4) summary

COG1196
Location:809 → 1645

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1899 → 2773

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1389 → 2321

Myosin_tail_1; Myosin tail

pfam10211
Location:1155 → 1218

Ax_dynein_light; Axonemal dynein light chain
XM_047447987.1 → XP_047303943.1 golgin subfamily B member 1 isoform X3

UniProtKB/TrEMBL

A0A8J9C4H3
XM_005247371.5 → XP_005247428.1 golgin subfamily B member 1 isoform X1

See identical proteins and their annotated locations for XP_005247428.1

UniProtKB/TrEMBL

C9J8Q0

Conserved Domains (4) summary

COG1196
Location:814 → 1650

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1904 → 2778

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01576
Location:1394 → 2326

Myosin_tail_1; Myosin tail

pfam10211
Location:1160 → 1223

Ax_dynein_light; Axonemal dynein light chain
XM_047447991.1 → XP_047303947.1 golgin subfamily B member 1 isoform X6
XM_017006195.2 → XP_016861684.1 golgin subfamily B member 1 isoform X10

UniProtKB/TrEMBL

A0A8Q3SHP0

Related

ENSP00000511621.1, ENST00000694973.1
XM_047447996.1 → XP_047303952.1 golgin subfamily B member 1 isoform X11

Related

ENSP00000511622.1, ENST00000694974.1