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

Gene ID: 54739, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (6755447..6775647)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (6656081..6676290)
105.20220307 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
  • 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. [Effect of stable overexpression of XAF1 gene on biological characteristics of ovarian cancer A2780 cells]. Liu J, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2021 May 20. PMID 34134965, Free PMC Article
  2. Paradoxical epigenetic regulation of XAF1 mediates plasticity towards adaptive resistance evolution in MGMT-methylated glioblastoma. Wu Q, et al. Sci Rep, 2019 Oct 1. PMID 31575897, Free PMC Article
  3. XAF1 expression levels in a non-small cell lung cancer cohort and its potential association with carcinogenesis. Schluckebier L, et al. Oncol Rep, 2017 Jul. PMID 28560416
  4. Role of X‑linked inhibitor of apoptosis‑associated factor‑1 in vasculogenic mimicry in ovarian cancer. Wang Y, et al. Mol Med Rep, 2017 Jul. PMID 28534973
  5. [XAF1 inhibits cell proliferation and induces apoptosis in human lung adenocarcinoma cell line A549 in vitro]. Chen D, et al. Zhongguo Fei Ai Za Zhi, 2014 Dec. PMID 25539606, Free PMC Article

See all (87) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. XAF1 promotes colorectal cancer metastasis via VCP-RNF114-JUP axis.
    Title: XAF1 promotes colorectal cancer metastasis via VCP-RNF114-JUP axis.
  2. IRF9 and XAF1 as Diagnostic Markers of Primary Sjogren Syndrome.
    Title: IRF9 and XAF1 as Diagnostic Markers of Primary Sjogren Syndrome.
  3. 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.
  4. [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].
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. XAF1 expression was markedly altered in non-small cell lung cancer tumor samples when compared to that found in normal lung tissues.
    Title: XAF1 expression levels in a non-small cell lung cancer cohort and its potential association with carcinogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (71)

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

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_2023_10

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

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