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    XAF1 XIAP associated factor 1 [ Homo sapiens (human) ]

    Gene ID: 54739, updated on 24-Aug-2015
    Official Symbol
    XAF1provided by HGNC
    Official Full Name
    XIAP associated factor 1provided by HGNC
    Primary source
    HGNC:HGNC:30932
    See related
    Ensembl:ENSG00000132530; HPRD:06978; MIM:606717; Vega:OTTHUMG00000177908
    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
    BIRC4BP; XIAPAF1; HSXIAPAF1
    Summary
    This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
    Orthologs
    See XAF1 in Epigenomics, MapViewer
    Location:
    17p13.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (6755572..6775647)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6658716..6678966)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 13 (sodium-dependent citrate transporter), member 5 Neighboring gene ribosomal protein L23a pseudogene 73 Neighboring gene F-box protein 39 Neighboring gene tektin 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of XIAP associated factor 1 (XAF1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
      Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    negative regulation of protein complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    response to interferon-beta IDA
    Inferred from Direct Assay
    more info
    PubMed 
    type I interferon signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    XIAP-associated factor 1
    Names
    BIRC4 binding protein
    BIRC4-binding protein

    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_017523.3NP_059993.2  XIAP-associated factor 1 isoform 1

      See identical proteins and their annotated locations for NP_059993.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC034305, AK056908, BC032776, BC058017, BM153640, BM459605, BM475564, BQ639060, BX648588, BX649188
      Consensus CDS
      CCDS11080.1
      UniProtKB/TrEMBL
      B3KPW1
      UniProtKB/Swiss-Prot
      Q6GPH4
      Related
      ENSP00000354822, OTTHUMP00000258020, ENST00000361842, OTTHUMT00000439643
      Conserved Domains (1) summary
      PLN03086
      Location:1120
      PLN03086; PRLI-interacting factor K; Provisional
    2. NM_199139.2NP_954590.1  XIAP-associated factor 1 isoform 2

      See identical proteins and their annotated locations for NP_954590.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AC034305, AK056908, BC032776, BC058017, BM153640, BM459605, BQ639060, BX648588, BX649188
      Consensus CDS
      CCDS11081.1
      UniProtKB/TrEMBL
      B3KPW1
      UniProtKB/Swiss-Prot
      Q6GPH4
      Conserved Domains (1) summary
      PLN03086
      Location:1101
      PLN03086; PRLI-interacting factor K; Provisional

    RNA

    1. NR_046396.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC034305, EF028165
    2. NR_046397.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC034305, EF028166
    3. NR_046398.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two alternate consecutive exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC034305, BC032776

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

      Range
      6755572..6775647
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256706.3XP_005256763.1  

      Conserved Domains (1) summary
      PLN03086
      Location:175
      PLN03086; PRLI-interacting factor K; Provisional
    2. XM_011523945.1XP_011522247.1  

      Conserved Domains (1) summary
      PLN03086
      Location:157222
      PLN03086; PRLI-interacting factor K; Provisional
    3. XM_005256708.1XP_005256765.1  

      See identical proteins and their annotated locations for XP_005256765.1

      UniProtKB/Swiss-Prot
      Q6GPH4
    4. XM_011523946.1XP_011522248.1  

      Conserved Domains (1) summary
      PLN03086
      Location:157222
      PLN03086; PRLI-interacting factor K; Provisional
    5. XM_011523948.1XP_011522250.1  

      Conserved Domains (1) summary
      PLN03086
      Location:157222
      PLN03086; PRLI-interacting factor K; Provisional
    6. XM_011523949.1XP_011522251.1  

    7. XM_011523947.1XP_011522249.1  

      Conserved Domains (1) summary
      PLN03086
      Location:61126
      PLN03086; PRLI-interacting factor K; Provisional

    RNA

    1. XR_934054.1 RNA Sequence

    2. XR_934057.1 RNA Sequence

    3. XR_934055.1 RNA Sequence

    4. XR_934053.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      6669375..6689184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)