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

    Gene ID: 23647, updated on 3-Jun-2018
    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; Vega:OTTHUMG00000133406
    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
    Expression
    Ubiquitous expression in prostate (RPKM 12.1), thyroid (RPKM 9.1) and 25 other tissues See more
    Orthologs
    See ARFIP2 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (6474683..6481479, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6495913..6502709, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene hemopexin Neighboring gene tripartite motif containing 3 Neighboring gene translocase of inner mitochondrial membrane 10B Neighboring gene voltage dependent anion channel 1 pseudogene Neighboring gene dynein heavy chain domain 1 Neighboring gene ribosomal RNA processing 8

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Arf1 pathway, organism-specific biosystem (from Pathway Interaction Database)
      Arf1 pathway, organism-specific biosystem
      Arf1 pathway
    • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
      Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • PDGF Pathway, organism-specific biosystem (from WikiPathways)
      PDGF Pathway, organism-specific biosystemPDGF belongs to the PDGF/VEGF (vascular endothelial growth factor) family, which is characterized by eight strictly conserved cysteine residues with similar spacing in between (Joukov et al., 1997; H...
    • Retrograde transport at the Trans-Golgi-Network, organism-specific biosystem (from REACTOME)
      Retrograde transport at the Trans-Golgi-Network, organism-specific biosystemThe trans-Golgi network is the docking site for retrograde cargo from the endolysosomal system and the plasma membrane. Typical cargo includes recycling resident TGN proteins such as TGOLN2 (also kn...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ18046, FLJ18697, FLJ99239

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding TAS
    Traceable Author Statement
    more info
    PubMed 
    GTP-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Rac GTPase binding TAS
    Traceable Author Statement
    more info
    PubMed 
    cadherin binding HDA PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    phosphatidylinositol-4-phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lamellipodium assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of Arp2/3 complex-mediated actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ruffle organization TAS
    Traceable Author Statement
    more info
    PubMed 
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    ruffle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    arfaptin-2
    Names
    partner of RAC1 (arfaptin 2)

    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_001242854.1NP_001229783.1  arfaptin-2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC084337, AK300855, BU627585, DB099222
      Consensus CDS
      CCDS73250.1
      UniProtKB/TrEMBL
      A0A087X1E4, B4DUZ3
      Related
      ENSP00000484121.1, ENST00000614314.4
      Conserved Domains (1) summary
      cd07660
      Location:169356
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin
    2. NM_001242855.1NP_001229784.1  arfaptin-2 isoform 3

      See identical proteins and their annotated locations for NP_001229784.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus and lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC084337, AK301856, BU627585, DB099222
      Consensus CDS
      CCDS55740.1
      UniProtKB/Swiss-Prot
      P53365
      Related
      ENSP00000398375.2, OTTHUMP00000274941, ENST00000423813.6, OTTHUMT00000474310
      Conserved Domains (1) summary
      cd07660
      Location:98285
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin
    3. NM_001242856.1NP_001229785.1  arfaptin-2 isoform 4

      See identical proteins and their annotated locations for NP_001229785.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, uses an alternate downstream start codon, and lacks an internal exon in the 5' coding region, compared to variant 1. The encoded isoform (4) has a distinct and shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC084337, AK304512, BU627585, DB099222
      Consensus CDS
      CCDS55739.1
      UniProtKB/Swiss-Prot
      P53365
      Related
      ENSP00000391427.2, OTTHUMP00000274879, ENST00000445086.6, OTTHUMT00000474170
      Conserved Domains (1) summary
      cd07660
      Location:51238
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin
    4. NM_012402.3NP_036534.1  arfaptin-2 isoform 2

      See identical proteins and their annotated locations for NP_036534.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC084337, AK301972, BC000392, BU627585, DB099222
      Consensus CDS
      CCDS7765.1
      UniProtKB/Swiss-Prot
      P53365
      UniProtKB/TrEMBL
      B4DXH2
      Related
      ENSP00000254584.2, OTTHUMP00000231513, ENST00000254584.6, OTTHUMT00000387044
      Conserved Domains (1) summary
      cd07660
      Location:136323
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      6474683..6481479 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252840.4XP_005252897.1  arfaptin-2 isoform X1

      See identical proteins and their annotated locations for XP_005252897.1

      UniProtKB/Swiss-Prot
      P53365
      Related
      ENSP00000379998.3, OTTHUMP00000164590, ENST00000396777.7, OTTHUMT00000257263
      Conserved Domains (1) summary
      cd07660
      Location:136323
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin
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