GOLGA4 golgin A4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GOLGA4provided by HGNC
Official Full Name: golgin A4provided by HGNC
Primary source: HGNC:HGNC:4427
See related: Ensembl:ENSG00000144674 MIM:602509; AllianceGenome:HGNC:4427
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GCP2; GOLG; p230; CRPF46; MU-RMS-40.18
Summary: The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
Expression: Ubiquitous expression in thyroid (RPKM 27.2), testis (RPKM 25.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.2

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (37243271..37366879)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (37244671..37368411)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (37284762..37408370)

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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of a novel GOLGA4-JAK2 fusion gene in B-cell acute lymphoblastic leukaemia.
Title: Identification of a novel GOLGA4-JAK2 fusion gene in B-cell acute lymphoblastic leukaemia.
CrpF46 regulates cell migration by centrosomal reorientation and altering the function of the actomyosin network by controlling specific phosphorylation of myosin.
Title: The actomyosin network is influenced by NMHC IIA and regulated by Crp(F46), which is involved in controlling cell migration.
This study provides Class III evidence that elevated cerebrospinal fluid golgin A4 levels identify patients with Alzheimer disease.
Title: Golgin A4 in CSF and granulovacuolar degenerations of patients with Alzheimer disease.
p230 is an important molecule in phagophore formation, although it remains unclear whether p230 has any role in late steps of autophagy
Title: Trans-Golgi protein p230/golgin-245 is involved in phagophore formation.
CD99 also binds p230/golgin-245, a coiled-coil protein that recycles between the cytosol and buds/vesicles of the TGN and which plays a fundamental role in trafficking transport vesicles.
Title: Regulation of HLA class I surface expression requires CD99 and p230/golgin-245 interaction.
The protein CrpF46 has an apparent molecular mass of ~60 kDa, is highly homologous to a 527 amino acid sequence of the C-terminal portion of the protein Golgin-245, and appears to be a splice variant of Golgin-245.
Title: Identification of a novel centrosomal protein CrpF46 involved in cell cycle progression and mitosis.
golgin-245 is a key regulator of TNF secretion; LPS activation of macrophages results in increased Golgi carriers for export, up-regulating the transport pathway for TNF export.
Title: A trans-Golgi network golgin is required for the regulated secretion of TNF in activated macrophages in vivo.
The ability of the four mammalian GRIP domain proteins, p230, golgin-97, GCC88, and GCC185 to interact is reported.
Title: The trans-Golgi network GRIP-domain proteins form alpha-helical homodimers.
tGolgin-1 functions in Golgi positioning indirectly, probably by regulating retrograde movement of cargo required for recruitment or activation of dynein-dynactin complexes on newly formed Golgi elements.
Title: tGolgin-1 (p230, golgin-245) modulates Shiga-toxin transport to the Golgi and Golgi motility towards the microtubule-organizing centre.
crystal structure of Arl1-GTP in complex with the GRIP domain of golgin-245 shows that Arl1-GTP interacts with the GRIP domain predominantly in a hydrophobic manner, with the switch II region conferring the main recognition surface
Title: Structural basis for recruitment of GRIP domain golgin-245 by small GTPase Arl1.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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/MBL complex co-localizes with the ER marker Erp57 and the Golgi marker p230 at subcellular perinuclear compartments in neuronal cells	PubMed
Nef	nef	Genome-wide shRNA screening identifies GOLGA4, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed
Vpu	vpu	HIV-1 Vpu co-localizes with the TGN marker p230 (Golgin)	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-83140 (e-PCR)
- UniSTS:101128

D11S2921 (e-PCR)
- UniSTS:152074

D8S2054 (e-PCR)
- UniSTS:62475

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

G29146 (e-PCR)
- UniSTS:819

D8S2279 (e-PCR)
- UniSTS:473907

RH66759 (e-PCR)
- UniSTS:68945

L18426 (e-PCR)
- UniSTS:34648

A005P39 (e-PCR)
- UniSTS:49765

D1S1425 (e-PCR)
- UniSTS:149621

GOLGA4 (e-PCR)
- UniSTS:505207

G32260 (e-PCR)
- UniSTS:116859

SGC33712 (e-PCR)
- UniSTS:39560

STS-AA017401 (e-PCR)
- UniSTS:16783

SHGC-146102 (e-PCR)
- UniSTS:175006

SHGC-80804 (e-PCR)
- UniSTS:102325

NoName (e-PCR)
- UniSTS:490177

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in Golgi to plasma membrane protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Golgi vesicle transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of axon extension	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle-mediated transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in trans-Golgi network	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: golgin subfamily A member 4

Names: 256 kDa golgin; 72.1 protein; centrosome-related protein F46; golgi autoantigen, golgin subfamily a, 4; golgin-240; golgin-245; protein 72.1; trans-Golgi p230

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.

Genomic

NG_047053.1 RefSeqGene

Range

5081..128689

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001172713.3 → NP_001166184.1 golgin subfamily A member 4 isoform 1

Status: REVIEWED

Source sequence(s)

AC097359

Consensus CDS

CCDS54564.1

UniProtKB/Swiss-Prot

Q13439

UniProtKB/TrEMBL

Q49A56

Related

ENSP00000349305.4, ENST00000356847.8

Conserved Domains (2) summary

smart00755
Location:2187 → 2230

Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245

TIGR02168
Location:1468 → 2109

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
NM_001410721.2 → NP_001397650.1 golgin subfamily A member 4 isoform 3

Status: REVIEWED

Source sequence(s)

AC097359

Consensus CDS

CCDS93242.1

UniProtKB/TrEMBL

H0Y6I0

Related

ENSP00000405842.2, ENST00000437131.2
NM_001429190.1 → NP_001416119.1 golgin subfamily A member 4 isoform 4

Status: REVIEWED

Source sequence(s)

AC097359
NM_001429191.1 → NP_001416120.1 golgin subfamily A member 4 isoform 5

Status: REVIEWED

Source sequence(s)

AC097359

UniProtKB/TrEMBL

A0A8V8TQI6

Related

ENSP00000514745.1, ENST00000699995.1
NM_001429193.1 → NP_001416122.1 golgin subfamily A member 4 isoform 6

Status: REVIEWED

Source sequence(s)

AC097359
NM_001429196.1 → NP_001416125.1 golgin subfamily A member 4 isoform 7

Status: REVIEWED

Source sequence(s)

AC097359
NM_001429198.1 → NP_001416127.1 golgin subfamily A member 4 isoform 8

Status: REVIEWED

Source sequence(s)

AC097359
NM_001429201.1 → NP_001416130.1 golgin subfamily A member 4 isoform 9

Status: REVIEWED

Source sequence(s)

AC097359
NM_001429202.1 → NP_001416131.1 golgin subfamily A member 4 isoform 10

Status: REVIEWED

Source sequence(s)

AC097359
NM_002078.5 → NP_002069.2 golgin subfamily A member 4 isoform 2

See identical proteins and their annotated locations for NP_002069.2

Status: REVIEWED

Source sequence(s)

AW881112, BC045543, U41740

Consensus CDS

CCDS2666.1

UniProtKB/Swiss-Prot

F8W8Q7, Q13270, Q13439, Q13654, Q14436, Q59EW8

Related

ENSP00000354486.2, ENST00000361924.7

Conserved Domains (4) summary

PTZ00121
Location:315 → 997

PTZ00121; MAEBL; Provisional

smart00755
Location:2172 → 2215

Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245

TIGR02168
Location:1446 → 2141

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:136 → 452

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

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

37243271..37366879

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047447981.1 → XP_047303937.1 golgin subfamily A member 4 isoform X7
XM_047447980.1 → XP_047303936.1 golgin subfamily A member 4 isoform X7
XM_024453457.2 → XP_024309225.1 golgin subfamily A member 4 isoform X17

Conserved Domains (3) summary

smart00755
Location:2053 → 2096

Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245

cl25732
Location:1327 → 2022

SMC_N; RecF/RecN/SMC N terminal domain

cl26511
Location:196 → 878

Neuromodulin_N; Gap junction protein N-terminal region
XM_005265069.4 → XP_005265126.1 golgin subfamily A member 4 isoform X1

UniProtKB/TrEMBL

C9J0Y3

Related

ENSP00000392907.2, ENST00000431105.2

Conserved Domains (2) summary

smart00755
Location:2227 → 2270

Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245

TIGR02168
Location:1501 → 2196

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_005265070.4 → XP_005265127.1 golgin subfamily A member 4 isoform X2

UniProtKB/TrEMBL

A0A9L9PX25

Related

ENSP00000516454.1, ENST00000706569.1

Conserved Domains (2) summary

smart00755
Location:2227 → 2270

Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245

TIGR02168
Location:1501 → 2196

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_005265071.4 → XP_005265128.1 golgin subfamily A member 4 isoform X3

Conserved Domains (2) summary

smart00755
Location:2220 → 2263

Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245

TIGR02168
Location:1501 → 2142

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_017006184.2 → XP_016861673.1 golgin subfamily A member 4 isoform X4
XM_005265072.4 → XP_005265129.1 golgin subfamily A member 4 isoform X5

Conserved Domains (2) summary

smart00755
Location:2211 → 2254

Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245

TIGR02168
Location:1485 → 2180

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_006713110.3 → XP_006713173.1 golgin subfamily A member 4 isoform X8

Conserved Domains (2) summary

smart00755
Location:2192 → 2235

Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245

TIGR02168
Location:1466 → 2161

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_005265074.2 → XP_005265131.1 golgin subfamily A member 4 isoform X9

UniProtKB/TrEMBL

A0A8V8TPI8

Related

ENSP00000514746.1, ENST00000699996.1

Conserved Domains (2) summary

smart00755
Location:2187 → 2230

Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245

TIGR02168
Location:1468 → 2109

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_047447985.1 → XP_047303941.1 golgin subfamily A member 4 isoform X13
XM_017006188.2 → XP_016861677.1 golgin subfamily A member 4 isoform X16
XM_011533598.4 → XP_011531900.1 golgin subfamily A member 4 isoform X18

Conserved Domains (2) summary

smart00755
Location:1735 → 1778

Grip; golgin-97, RanBP2alpha,Imh1p and p230/golgin-245

TIGR02168
Location:1009 → 1704

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

37244671..37368411

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054346209.1 → XP_054202184.1 golgin subfamily A member 4 isoform X7
XM_054346208.1 → XP_054202183.1 golgin subfamily A member 4 isoform X7
XM_054346219.1 → XP_054202194.1 golgin subfamily A member 4 isoform X17
XM_054346202.1 → XP_054202177.1 golgin subfamily A member 4 isoform X1

UniProtKB/TrEMBL

C9J0Y3
XM_054346203.1 → XP_054202178.1 golgin subfamily A member 4 isoform X2

UniProtKB/TrEMBL

A0A9L9PX25
XM_054346204.1 → XP_054202179.1 golgin subfamily A member 4 isoform X3
XM_054346205.1 → XP_054202180.1 golgin subfamily A member 4 isoform X4
XM_054346206.1 → XP_054202181.1 golgin subfamily A member 4 isoform X5
XM_054346210.1 → XP_054202185.1 golgin subfamily A member 4 isoform X8
XM_054346211.1 → XP_054202186.1 golgin subfamily A member 4 isoform X9

UniProtKB/TrEMBL

A0A8V8TPI8
XM_054346215.1 → XP_054202190.1 golgin subfamily A member 4 isoform X13
XM_054346218.1 → XP_054202193.1 golgin subfamily A member 4 isoform X16
XM_054346220.1 → XP_054202195.1 golgin subfamily A member 4 isoform X18