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    AGGF1 angiogenic factor with G-patch and FHA domains 1 [ Homo sapiens (human) ]

    Gene ID: 55109, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AGGF1provided by HGNC
    Official Full Name
    angiogenic factor with G-patch and FHA domains 1provided by HGNC
    Primary source
    HGNC:HGNC:24684
    See related
    Ensembl:ENSG00000164252 MIM:608464; AllianceGenome:HGNC:24684
    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
    VG5Q; GPATC7; GPATCH7; HSU84971; HUS84971
    Summary
    This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in testis (RPKM 13.2), brain (RPKM 10.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AGGF1 in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (77030404..77065234)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (77512128..77546904)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (76326229..76361059)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene S100 calcium binding protein Z Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:76249596-76250282 Neighboring gene RNA, U6atac small nuclear 36, pseudogene Neighboring gene corticotropin releasing hormone binding protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:76325887-76326466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:76326467-76327046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16108 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:76382768-76383369 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:76383370-76383972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:76383973-76384573 Neighboring gene ZBED3 antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 47 Neighboring gene uncharacterized LOC124901008 Neighboring gene zinc finger BED-type containing 3 Neighboring gene phosphodiesterase 8B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Angiogenic Factor with G Patch and FHA Domains 1 (AGGF1) Acts as Diagnostic Biomarker and Adverse Prognostic Factor of Hepatocellular Carcinoma (HCC): Evidence from Bioinformatic Analysis. Wang W, et al. Med Sci Monit, 2020 Feb 24. PMID 32090983, Free PMC Article
    2. AGGF1 protects from myocardial ischemia/reperfusion injury by regulating myocardial apoptosis and angiogenesis. Liu Y, et al. Apoptosis, 2014 Aug. PMID 24893993
    3. Overexpression of AGGF1 is correlated with angiogenesis and poor prognosis of hepatocellular carcinoma. Wang W, et al. Med Oncol, 2015 Apr. PMID 25796501
    4. AGGF1 is a novel anti-inflammatory factor associated with TNF-α-induced endothelial activation. Hu FY, et al. Cell Signal, 2013 Aug. PMID 23628701
    5. Polymorphic Variants rs13155212 (T/C) and rs7704267 (G/C) in the AGGF1 Gene and Risk of Varicose Veins of the Lower Extremities in the Population of Ethnic Russians. Shadrina AS, et al. Bull Exp Biol Med, 2016 Sep. PMID 27704351

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Decreased AGGF1 facilitates the progression of placenta accreta spectrum via mediating the P53 signaling pathway under the regulation of miR-1296-5p.
      Title: Decreased AGGF1 facilitates the progression of placenta accreta spectrum via mediating the P53 signaling pathway under the regulation of miR-1296-5p.
    2. Receptor and Molecular Mechanism of AGGF1 Signaling in Endothelial Cell Functions and Angiogenesis.
      Title: Receptor and Molecular Mechanism of AGGF1 Signaling in Endothelial Cell Functions and Angiogenesis.
    3. Angiogenic factor with G patch and FHA domains 1 protects retinal vascular endothelial cells under hyperoxia by inhibiting autophagy.
      Title: Angiogenic factor with G patch and FHA domains 1 protects retinal vascular endothelial cells under hyperoxia by inhibiting autophagy.
    4. Angiogenic factor AGGF1 acts as a tumor suppressor by modulating p53 post-transcriptional modifications and stability via MDM2.
      Title: Angiogenic factor AGGF1 acts as a tumor suppressor by modulating p53 post-transcriptional modifications and stability via MDM2.
    5. AGGF1 inhibits the expression of inflammatory mediators and promotes angiogenesis in dental pulp cells.
      Title: AGGF1 inhibits the expression of inflammatory mediators and promotes angiogenesis in dental pulp cells.
    6. Angiogenic Factor with G Patch and FHA Domains 1 (AGGF1) Acts as Diagnostic Biomarker and Adverse Prognostic Factor of Hepatocellular Carcinoma (HCC): Evidence from Bioinformatic Analysis.
      Title: Angiogenic Factor with G Patch and FHA Domains 1 (AGGF1) Acts as Diagnostic Biomarker and Adverse Prognostic Factor of Hepatocellular Carcinoma (HCC): Evidence from Bioinformatic Analysis.
    7. At the protein level, AGGF1 expression in colorectal cancer (CRC) tissues was higher than in paired normal mucosa, which showed a clear association with TNM stage, AJCC stage, vascular invasion, and differentiation. An apparent correlation between AGGF1 expression and poorer disease-free survival and overall survival of CRC patients was revealed.
      Title: Elevated expression of AGGF1 predicts poor prognosis and promotes the metastasis of colorectal cancer.
    8. LncRNA OR3A4 participates in the angiogenesis of hepatocellular carcinoma through modulating AGGF1/akt/mTOR pathway
      Title: LncRNA OR3A4 participates in the angiogenesis of hepatocellular carcinoma through modulating AGGF1/akt/mTOR pathway.
    9. Aggf1 has a role in regulating vascular injury.
      Title: Angiogenic Factor With G Patch and FHA Domains 1 Is a Novel Regulator of Vascular Injury.
    10. High expression of AGGF1 predicts poor prognosis in gastric cancer patients.
      Title: High Expression of Angiogenic Factor with G-Patch and FHA Domain1 (AGGF1) Predicts Poor Prognosis in Gastric Cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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)

    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

    Clone Names

    • FLJ10283

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vasculogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    angiogenic factor with G patch and FHA domains 1
    Names
    G patch domain-containing protein 7
    angiogenic factor VG5Q
    vasculogenesis gene on 5q protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_027822.1 RefSeqGene

      Range
      5020..39850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018046.5 → NP_060516.2  angiogenic factor with G patch and FHA domains 1

      See identical proteins and their annotated locations for NP_060516.2

      Status: REVIEWED

      Source sequence(s)
      AC008581, AI453097, AY500994, BI561566, BX648120, DR157679
      Consensus CDS
      CCDS4035.1
      UniProtKB/Swiss-Prot
      O00581, Q53YS3, Q8N302, Q9BU84, Q9NW66
      UniProtKB/TrEMBL
      Q6PIK7
      Related
      ENSP00000316109.7, ENST00000312916.12
      Conserved Domains (4) summary
      COG1196
      Location:22 → 87
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00060
      Location:410 → 516
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd16164
      Location:200 → 253
      OCRE_VG5Q; OCRE domain found in angiogenic factor VG5Q and similar proteins
      pfam01585
      Location:620 → 661
      G-patch; G-patch domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      77030404..77065234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      77512128..77546904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_013303.1: Suppressed sequence

      Description
      NM_013303.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.

    2. NM_138490.1: Suppressed sequence

      Description
      NM_138490.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N302.2 GenPept UniProtKB/Swiss-Prot:Q8N302

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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