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    ARFIP2 ADP ribosylation factor interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 23647, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ARFIP2provided by HGNC
    Official Full Name
    ADP ribosylation factor interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:17160
    See related
    Ensembl:ENSG00000132254 MIM:601638; AllianceGenome:HGNC:17160
    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
    POR1
    Summary
    Enables several functions, including GTP-dependent protein binding activity; membrane curvature sensor activity; and phosphatidylinositol-4-phosphate binding activity. Involved in actin cytoskeleton organization. Located in cell cortex; ruffle; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in prostate (RPKM 12.1), thyroid (RPKM 9.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11p15.4
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6476519..6481331, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (6534991..6539815, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6497749..6502561, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3102 Neighboring gene hemopexin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4341 Neighboring gene tripartite motif containing 3 Neighboring gene Sharpr-MPRA regulatory region 6512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6493832-6494771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6494772-6495710 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:6502154-6503353 Neighboring gene translocase of inner mitochondrial membrane 10B Neighboring gene voltage dependent anion channel 1 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
    • 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. Dimer of arfaptin 2 regulates NF-κB signaling by interacting with IKKβ/NEMO and inhibiting IKKβ kinase activity. You DJ, et al. Cell Signal, 2015 Nov. PMID 26296658
    2. Arf1 and membrane curvature cooperate to recruit Arfaptin2 to liposomes. Ambroggio EE, et al. PLoS One, 2013. PMID 23638170, Free PMC Article
    3. Structural basis for membrane binding specificity of the Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin-2 determined by Arl1 GTPase. Nakamura K, et al. J Biol Chem, 2012 Jul 20. PMID 22679020, Free PMC Article
    4. The structural basis of Arfaptin-mediated cross-talk between Rac and Arf signalling pathways. Tarricone C, et al. Nature, 2001 May 10. PMID 11346801
    5. Circular RNA circ-ARFIP2 regulates proliferation, migration and invasion in human vascular smooth muscle cells via miR-338-3p-dependent modulation of KDR. Qin K, et al. Metab Brain Dis, 2021 Aug. PMID 33837886

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deciphering the immunological and prognostic features of hepatocellular carcinoma through ADP-ribosylation-related genes analysis and identify potential therapeutic target ARFIP2.
      Title: Deciphering the immunological and prognostic features of hepatocellular carcinoma through ADP-ribosylation-related genes analysis and identify potential therapeutic target ARFIP2.
    2. Circular RNA circ-ARFIP2 regulates proliferation, migration and invasion in human vascular smooth muscle cells via miR-338-3p-dependent modulation of KDR.
      Title: Circular RNA circ-ARFIP2 regulates proliferation, migration and invasion in human vascular smooth muscle cells via miR-338-3p-dependent modulation of KDR.
    3. The data indicate that arfaptin 2 is the first molecule to regulate NF-kappaB signaling by interacting with the functional IkappaB kinase complex but not by direct inhibiting IKKbeta phosphorylation.
      Title: Dimer of arfaptin 2 regulates NF-κB signaling by interacting with IKKβ/NEMO and inhibiting IKKβ kinase activity.
    4. both Arf1 activation and high membrane curvature are required for efficient recruitment of Arfaptin2 to membranes
      Title: Arf1 and membrane curvature cooperate to recruit Arfaptin2 to liposomes.
    5. The binding of arfaptin1, but not arfaptin2, to PI(4)P is regulated by protein kinase D (PKD) mediated phosphorylation at Ser100 within the AH.
      Title: Recruitment of arfaptins to the trans-Golgi network by PI(4)P and their involvement in cargo export.
    6. The Arl1.Arfaptin-2 BAR structure suggests that one of the two Arl1 molecules competes with Rac1, which binds to the concave face of the Arfaptin-2 BAR homodimer and may hinder its membrane association.
      Title: Structural basis for membrane binding specificity of the Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin-2 determined by Arl1 GTPase.
    7. arfaptin 2 phosphorylation at Ser260 by Akt inhibits PolyQ-huntingtin-induced toxicity by rescuing proteasome impairment
      Title: Phosphorylation of arfaptin 2 at Ser260 by Akt Inhibits PolyQ-huntingtin-induced toxicity by rescuing proteasome impairment.
    8. arfaptin 2 is involved in regulating huntingtin protein aggregation
      Title: Arfaptin 2 regulates the aggregation of mutant huntingtin protein.
    Submit: New GeneRIF Correction

    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

    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

    • FLJ18046, FLJ18697, FLJ99239

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables GTP-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables cadherin binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables membrane curvature sensor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-4-phosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lamellipodium assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in mitophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to phagophore assembly site IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Arp2/3 complex-mediated actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ruffle organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in small GTPase-mediated signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in ruffle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    arfaptin-2
    Names
    partner of RAC1 (arfaptin 2)

    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)

    1. NM_001242854.3 → NP_001229783.1  arfaptin-2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC084337
      Consensus CDS
      CCDS73250.1
      UniProtKB/TrEMBL
      A0A087X1E4, B4DUZ3
      Related
      ENSP00000484121.1, ENST00000614314.4
      Conserved Domains (1) summary
      cd07660
      Location:169 → 356
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    2. NM_001242855.3 → NP_001229784.1  arfaptin-2 isoform 3

      See identical proteins and their annotated locations for NP_001229784.1

      Status: VALIDATED

      Source sequence(s)
      AC084337
      Consensus CDS
      CCDS55740.1
      UniProtKB/TrEMBL
      B4DXH2
      Related
      ENSP00000398375.2, ENST00000423813.6
      Conserved Domains (1) summary
      cd07660
      Location:98 → 285
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    3. NM_001242856.3 → NP_001229785.1  arfaptin-2 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001229785.1

      Status: VALIDATED

      Source sequence(s)
      AC084337
      Consensus CDS
      CCDS55739.1
      UniProtKB/Swiss-Prot
      P53365
      Related
      ENSP00000391427.2, ENST00000445086.6
      Conserved Domains (1) summary
      cd07660
      Location:51 → 238
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    4. NM_001370406.2 → NP_001357335.1  arfaptin-2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC084337
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:136 → 322
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    5. NM_001370408.2 → NP_001357337.1  arfaptin-2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC084337
      Consensus CDS
      CCDS55740.1
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:98 → 285
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    6. NM_001370409.2 → NP_001357338.1  arfaptin-2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC084337
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:136 → 318
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    7. NM_001370411.2 → NP_001357340.1  arfaptin-2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC084337
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:136 → 318
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    8. NM_001370412.2 → NP_001357341.1  arfaptin-2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC084337
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:120 → 307
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    9. NM_001370413.2 → NP_001357342.1  arfaptin-2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC084337
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:120 → 307
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    10. NM_001376558.2 → NP_001363487.1  arfaptin-2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC084337
      Consensus CDS
      CCDS7765.1
      UniProtKB/Swiss-Prot
      B4DX86, B4E306, D3DQT5, P53365
      UniProtKB/TrEMBL
      B4DXH2
      Related
      ENSP00000379998.3, ENST00000396777.8
      Conserved Domains (1) summary
      cd07660
      Location:136 → 323
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    11. NM_001376559.2 → NP_001363488.1  arfaptin-2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC084337
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:136 → 322
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    12. NM_001376560.2 → NP_001363489.1  arfaptin-2 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC084337
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:136 → 321
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    13. NM_001376561.2 → NP_001363490.1  arfaptin-2 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC084337
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:136 → 290
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    14. NM_001376562.2 → NP_001363491.1  arfaptin-2 isoform 12 precursor

      Status: VALIDATED

      Source sequence(s)
      AC084337
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:108 → 295
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    15. NM_001376563.2 → NP_001363492.1  arfaptin-2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC084337
      Consensus CDS
      CCDS55740.1
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:98 → 285
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    16. NM_001376564.2 → NP_001363493.1  arfaptin-2 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC084337
      UniProtKB/TrEMBL
      B4DXH2
      Conserved Domains (1) summary
      cd07660
      Location:98 → 284
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    17. NM_012402.5 → NP_036534.1  arfaptin-2 isoform 2

      See identical proteins and their annotated locations for NP_036534.1

      Status: VALIDATED

      Source sequence(s)
      AC084337
      Consensus CDS
      CCDS7765.1
      UniProtKB/Swiss-Prot
      B4DX86, B4E306, D3DQT5, P53365
      UniProtKB/TrEMBL
      B4DXH2
      Related
      ENSP00000254584.2, ENST00000254584.6
      Conserved Domains (1) summary
      cd07660
      Location:136 → 323
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    RNA

    1. NR_163423.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC084337
      Related
      ENST00000531037.5

    2. NR_163424.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC084337

    3. NR_164825.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC084337

    4. NR_164826.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC084337

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      6476519..6481331 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426687.1 → XP_047282643.1  arfaptin-2 isoform X1

      Conserved Domains (1) summary
      cd07660
      Location:136 → 290
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      6534991..6539815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368252.1 → XP_054224227.1  arfaptin-2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53365.1 GenPept UniProtKB/Swiss-Prot:P53365

    Gene LinkOut

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

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