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    GOLGA4 golgin A4 [ Homo sapiens (human) ]

    Gene ID: 2803, updated on 3-Nov-2024

    Summary

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    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

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    See GOLGA4 in Genome Data Viewer
    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_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377642 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124909483 Neighboring gene CRISPRi-validated cis-regulatory element chr3.1280 Neighboring gene H3K27ac hESC enhancers GRCh37_chr3:37283961-37284580 and GRCh37_chr3:37284581-37285200 Neighboring gene GOLGA4 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:37339657-37340856 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:37343371-37344032 Neighboring gene transcription elongation factor A1 pseudogene 2 Neighboring gene MPRA-validated peak4611 silencer Neighboring gene RNA, 5S ribosomal pseudogene 129 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:37485219-37485403 Neighboring gene APRG1 tumor suppressor candidate Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37516063-37516575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37516576-37517087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37539704-37540204 Neighboring gene integrin subunit alpha 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37579429-37579930 Neighboring gene RNA, U7 small nuclear 73 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Human autoantibodies as reagents to conserved Golgi components. Characterization of a peripheral, 230-kDa compartment-specific Golgi protein. Kooy J, et al. J Biol Chem, 1992 Oct 5. PMID 1400343
    2. Molecular characterization of Golgin-245, a novel Golgi complex protein containing a granin signature. Fritzler MJ, et al. J Biol Chem, 1995 Dec 29. PMID 8537393
    3. Molecular characterization of trans-Golgi p230. A human peripheral membrane protein encoded by a gene on chromosome 6p12-22 contains extensive coiled-coil alpha-helical domains and a granin motif. Erlich R, et al. J Biol Chem, 1996 Apr 5. PMID 8626529
    4. Identification of a novel centrosomal protein CrpF46 involved in cell cycle progression and mitosis. Wei Y, et al. Exp Cell Res, 2008 May 1. PMID 18394601
    5. Golgin A4 in CSF and granulovacuolar degenerations of patients with Alzheimer disease. Kork F, et al. Neurology, 2018 Nov 6. PMID 30305446

    See all (93) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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)

    Genotypes

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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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

    Homology

    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 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

    1. NG_047053.1 RefSeqGene

      Range
      5081..128689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. NM_001429190.1 → NP_001416119.1  golgin subfamily A member 4 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC097359

    4. 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

    5. NM_001429193.1 → NP_001416122.1  golgin subfamily A member 4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC097359

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

      Status: REVIEWED

      Source sequence(s)
      AC097359

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

      Status: REVIEWED

      Source sequence(s)
      AC097359

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

      Status: REVIEWED

      Source sequence(s)
      AC097359

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

      Status: REVIEWED

      Source sequence(s)
      AC097359

    10. 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

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      37243271..37366879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447981.1 → XP_047303937.1  golgin subfamily A member 4 isoform X7

    2. XM_047447980.1 → XP_047303936.1  golgin subfamily A member 4 isoform X7

    3. 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

    4. 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

    5. 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

    6. 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

    7. XM_017006184.2 → XP_016861673.1  golgin subfamily A member 4 isoform X4

    8. 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

    9. 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

    10. 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

    11. XM_047447985.1 → XP_047303941.1  golgin subfamily A member 4 isoform X13

    12. XM_017006188.2 → XP_016861677.1  golgin subfamily A member 4 isoform X16

    13. 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

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      37244671..37368411
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346209.1 → XP_054202184.1  golgin subfamily A member 4 isoform X7

    2. XM_054346208.1 → XP_054202183.1  golgin subfamily A member 4 isoform X7

    3. XM_054346219.1 → XP_054202194.1  golgin subfamily A member 4 isoform X17

    4. XM_054346202.1 → XP_054202177.1  golgin subfamily A member 4 isoform X1

      UniProtKB/TrEMBL
      C9J0Y3

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

      UniProtKB/TrEMBL
      A0A9L9PX25

    6. XM_054346204.1 → XP_054202179.1  golgin subfamily A member 4 isoform X3

    7. XM_054346205.1 → XP_054202180.1  golgin subfamily A member 4 isoform X4

    8. XM_054346206.1 → XP_054202181.1  golgin subfamily A member 4 isoform X5

    9. XM_054346210.1 → XP_054202185.1  golgin subfamily A member 4 isoform X8

    10. XM_054346211.1 → XP_054202186.1  golgin subfamily A member 4 isoform X9

      UniProtKB/TrEMBL
      A0A8V8TPI8

    11. XM_054346215.1 → XP_054202190.1  golgin subfamily A member 4 isoform X13

    12. XM_054346218.1 → XP_054202193.1  golgin subfamily A member 4 isoform X16

    13. XM_054346220.1 → XP_054202195.1  golgin subfamily A member 4 isoform X18

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13439.1 GenPept UniProtKB/Swiss-Prot:Q13439

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