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

    Gene ID: 54739, updated on 2-Nov-2024

    Summary

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    Official Symbol
    XAF1provided by HGNC
    Official Full Name
    XIAP associated factor 1provided by HGNC
    Primary source
    HGNC:HGNC:30932
    See related
    Ensembl:ENSG00000132530 MIM:606717; AllianceGenome:HGNC:30932
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 13.4), lung (RPKM 8.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See XAF1 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (6755447..6775647)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (6656081..6676290)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (6658766..6678966)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 13 member 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:6604268-6605180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:6606329-6607039 Neighboring gene Sharpr-MPRA regulatory regions 2431 and 6579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11591 Neighboring gene ribosomal protein L23a pseudogene 73 Neighboring gene uncharacterized LOC124903905 Neighboring gene F-box protein 39 Neighboring gene GATA motif-containing MPRA enhancer 34 Neighboring gene tektin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8079

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. XAF1 overexpression inhibits the malignant progression and cisplatin resistance of NSCLC by activating endoplasmic reticulum stress.
      Title: XAF1 overexpression inhibits the malignant progression and cisplatin resistance of NSCLC by activating endoplasmic reticulum stress.
    2. XAF1 promotes colorectal cancer metastasis via VCP-RNF114-JUP axis.
      Title: XAF1 promotes colorectal cancer metastasis via VCP-RNF114-JUP axis.
    3. IRF9 and XAF1 as Diagnostic Markers of Primary Sjogren Syndrome.
      Title: IRF9 and XAF1 as Diagnostic Markers of Primary Sjogren Syndrome.
    4. XAF1 destabilizes estrogen receptor alpha through the assembly of a BRCA1-mediated destruction complex and promotes estrogen-induced apoptosis.
      Title: XAF1 destabilizes estrogen receptor α through the assembly of a BRCA1-mediated destruction complex and promotes estrogen-induced apoptosis.
    5. [Effect of stable overexpression of XAF1 gene on biological characteristics of ovarian cancer A2780 cells].
      Title: [Effect of stable overexpression of XAF1 gene on biological characteristics of ovarian cancer A2780 cells].
    6. Paradoxical epigenetic regulation of XAF1 mediates plasticity towards adaptive resistance evolution in MGMT-methylated glioblastoma.
      Title: Paradoxical epigenetic regulation of XAF1 mediates plasticity towards adaptive resistance evolution in MGMT-methylated glioblastoma.
    7. XAF1 enhances IRF-1-mediated transcription of proapoptotic genes via the XAF1-IRF-1 complex formation on these target promoters. XAF1 inhibits NF-kappaB-mediated tumor cell malignancy by reinforcing IRF-1 binding to a subset of coregulated promoters.
      Title: XAF1 forms a positive feedback loop with IRF-1 to drive apoptotic stress response and suppress tumorigenesis.
    8. Results support a model in which YY1 is able to silence tumor suppressor genes such as XAF1 through HDAC1 in prostate cancer.
      Title: YY1 negatively regulates the XAF1 gene expression in prostate cancer.
    9. Results found that XAF1 transcription levels are downregulated in colorectal neoplasm cells by TGFB1 which activates RAS-ERK signaling.
      Title: TGF-β1 protects colon tumor cells from apoptosis through XAF1 suppression.
    10. this study uncovers an important role for XAF1-MT2A antagonism as a linchpin to govern cell fate under various stressful conditions including heavy metal exposure.
      Title: Identification of XAF1-MT2A mutual antagonism as a molecular switch in cell-fate decisions under stressful conditions.
    Submit: New GeneRIF Correction See all GeneRIFs (72)

    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)

    HIV-1 interactions

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    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
    Vpr vpr HIV-1 Vpr upregulates the gene expression of XAF1 in human monocyte-derived dendritic cells 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 molecular sequestering activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to interferon-beta IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    XIAP-associated factor 1
    Names
    BIRC4-binding protein

    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_001353134.2 → NP_001340063.1  XIAP-associated factor 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC034305

    2. NM_001353135.1 → NP_001340064.1  XIAP-associated factor 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC034305
      Consensus CDS
      CCDS11080.1
      UniProtKB/Swiss-Prot
      A2T931, A2T932, A8K2L1, A8K9Y3, D3DTM6, Q6GPH4, Q6MZE8, Q8N557, Q99982
      Conserved Domains (1) summary
      cl27293
      Location:1 → 120
      UFD1; Ubiquitin fusion degradation protein UFD1

    3. NM_001353136.2 → NP_001340065.1  XIAP-associated factor 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC034305
      UniProtKB/TrEMBL
      B3KPW1
      Conserved Domains (1) summary
      cl27293
      Location:2 → 60
      UFD1; Ubiquitin fusion degradation protein UFD1

    4. NM_001353137.2 → NP_001340066.1  XIAP-associated factor 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC034305

    5. NM_001353138.2 → NP_001340067.1  XIAP-associated factor 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC034305

    6. NM_001353139.2 → NP_001340068.1  XIAP-associated factor 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC034305, EF028165

    7. NM_001353140.2 → NP_001340069.1  XIAP-associated factor 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC034305, EF028166

    8. NM_017523.5 → NP_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) encodes the longest isoform (1). Both variants 1 and 7 encode the same isoform (1).
      Source sequence(s)
      AC034305, BC032776, BC058017, BM153640, BM459605, BM475564, BX648588, BX649188
      Consensus CDS
      CCDS11080.1
      UniProtKB/Swiss-Prot
      A2T931, A2T932, A8K2L1, A8K9Y3, D3DTM6, Q6GPH4, Q6MZE8, Q8N557, Q99982
      Related
      ENSP00000354822.3, ENST00000361842.8
      Conserved Domains (1) summary
      cl27293
      Location:1 → 120
      UFD1; Ubiquitin fusion degradation protein UFD1

    9. NM_199139.4 → NP_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, BC032776, BC058017, BM153640, BM459605, BX648588, BX649188
      Consensus CDS
      CCDS11081.1
      UniProtKB/Swiss-Prot
      Q6GPH4
      Related
      ENSP00000341029.4, ENST00000346752.8
      Conserved Domains (1) summary
      PLN03086
      Location:1 → 101
      PLN03086; PRLI-interacting factor K; Provisional

    RNA

    1. NR_046398.3 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: 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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      6755447..6775647
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436317.1 → XP_047292273.1  XIAP-associated factor 1 isoform X2

    2. XM_047436316.1 → XP_047292272.1  XIAP-associated factor 1 isoform X1

    3. XM_011523948.2 → XP_011522250.1  XIAP-associated factor 1 isoform X3

      Conserved Domains (1) summary
      PLN03086
      Location:157 → 222
      PLN03086; PRLI-interacting factor K; Provisional

    4. XM_011523949.3 → XP_011522251.1  XIAP-associated factor 1 isoform X4

    5. XM_047436318.1 → XP_047292274.1  XIAP-associated factor 1 isoform X5

    RNA

    1. XR_007065309.1 RNA Sequence

    2. XR_007065310.1 RNA Sequence

    3. XR_934053.2 RNA Sequence

    4. XR_007065308.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      6656081..6676290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316542.1 → XP_054172517.1  XIAP-associated factor 1 isoform X2

    2. XM_054316541.1 → XP_054172516.1  XIAP-associated factor 1 isoform X1

    3. XM_054316543.1 → XP_054172518.1  XIAP-associated factor 1 isoform X3

    4. XM_054316544.1 → XP_054172519.1  XIAP-associated factor 1 isoform X4

    5. XM_054316545.1 → XP_054172520.1  XIAP-associated factor 1 isoform X5

    RNA

    1. XR_008484841.1 RNA Sequence

    2. XR_008484842.1 RNA Sequence

    3. XR_008484840.1 RNA Sequence

    4. XR_008484839.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6GPH4.1 GenPept UniProtKB/Swiss-Prot:Q6GPH4

    Gene LinkOut

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

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