Format

Send to:

Choose Destination

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

Gene ID: 54739, updated on 5-Aug-2018

Summary

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; 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]
Expression
Ubiquitous expression in spleen (RPKM 13.4), lung (RPKM 8.3) and 24 other tissues See more
Orthologs

Genomic context

See XAF1 in Genome Data Viewer
Location:
17p13.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (6755408..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 member 5 Neighboring gene ribosomal protein L23a pseudogene 73 Neighboring gene F-box protein 39 Neighboring gene GATA motif-containing MPRA enhancer 34

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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 BioSystems

  • Copper homeostasis, organism-specific biosystem (from WikiPathways)
    Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
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 IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

    Status: VALIDATED

    Source sequence(s)
    AC034305
  2. NM_001353135.1NP_001340064.1  XIAP-associated factor 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC034305
    Consensus CDS
    CCDS11080.1
    Conserved Domains (1) summary
    cl27293
    Location:1120
    UFD1; Ubiquitin fusion degradation protein UFD1
  3. NM_001353136.1NP_001340065.1  XIAP-associated factor 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC034305
    Conserved Domains (1) summary
    cl27293
    Location:260
    UFD1; Ubiquitin fusion degradation protein UFD1
  4. NM_001353137.1NP_001340066.1  XIAP-associated factor 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC034305
  5. NM_001353138.1NP_001340067.1  XIAP-associated factor 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC034305
  6. NM_001353139.1NP_001340068.1  XIAP-associated factor 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC034305, EF028165
  7. NM_001353140.1NP_001340069.1  XIAP-associated factor 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC034305, EF028166
  8. NM_017523.4NP_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, AK056908, BC032776, BC058017, BM153640, BM459605, BM475564, BQ639060, BX648588, BX649188
    Consensus CDS
    CCDS11080.1
    UniProtKB/Swiss-Prot
    Q6GPH4
    Related
    ENSP00000354822.3, OTTHUMP00000258020, ENST00000361842.7
    Conserved Domains (1) summary
    cl27293
    Location:1120
    UFD1; Ubiquitin fusion degradation protein UFD1
  9. NM_199139.3NP_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/Swiss-Prot
    Q6GPH4
    Related
    ENSP00000341029.4, OTTHUMP00000258021, ENST00000346752.8
    Conserved Domains (1) summary
    PLN03086
    Location:1101
    PLN03086; PRLI-interacting factor K; Provisional

RNA

  1. NR_046398.2 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 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_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    6755408..6775647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450809.1XP_024306577.1  XIAP-associated factor 1 isoform X3

  2. XM_011523945.2XP_011522247.1  XIAP-associated factor 1 isoform X1

    Conserved Domains (1) summary
    PLN03086
    Location:157222
    PLN03086; PRLI-interacting factor K; Provisional
  3. XM_011523948.1XP_011522250.1  XIAP-associated factor 1 isoform X4

    Conserved Domains (1) summary
    PLN03086
    Location:157222
    PLN03086; PRLI-interacting factor K; Provisional
  4. XM_011523949.2XP_011522251.1  XIAP-associated factor 1 isoform X5

  5. XM_005256708.3XP_005256765.1  XIAP-associated factor 1 isoform X6

    See identical proteins and their annotated locations for XP_005256765.1

    UniProtKB/Swiss-Prot
    Q6GPH4
  6. XM_024450810.1XP_024306578.1  XIAP-associated factor 1 isoform X7

  7. XM_005256706.5XP_005256763.1  XIAP-associated factor 1 isoform X2

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

RNA

  1. XR_934055.2 RNA Sequence

  2. XR_934054.2 RNA Sequence

  3. XR_001752541.1 RNA Sequence

  4. XR_934053.1 RNA Sequence

Support Center