Basic Information

Symbol
XAF1
RNA class
mRNA
Alias
XIAP Associated Factor 1 BIRC4BP XIAPAF1 HSXIAPAF1 XIAP-Associated Factor 1 BIRC4-Binding Protein
Location (GRCh38)
17:6755377-6775647
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_017523.5
Sequence length
3417.0 nt
GC content
0.4223

Transcripts

ID Sequence Length GC content
NM_001353134.2 NCBI
GAAACUCAACCGAAAGCCUGCAGAGAGCAGAACAUGGAAGGAGACUUCU… 3573 nt 0.4271
NM_001353135.1 NCBI
AGAUGUUGUUUAGAGUUCUUCUGUUAGCACAGCUGUUUCUAGGGUCUGG… 3626 nt 0.4277
NM_001353136.2 NCBI
GAAACUCAACCGAAAGCCUGCAGAGAGCAGAACAUGGAAGGAGACUUCU… 3823 nt 0.4353
NM_001353137.2 NCBI
GAAACUCAACCGAAAGCCUGCAGAGAGCAGAACAUGGAAGGAGACUUCU… 3512 nt 0.4254
NM_001353138.2 NCBI
GAAACUCAACCGAAAGCCUGCAGAGAGCAGAACAUGGAAGGAGACUUCU… 3569 nt 0.4267
NM_001353139.2 NCBI
GAAACUCAACCGAAAGCCUGCAGAGAGCAGAACAUGGAAGGAGACUUCU… 3331 nt 0.4239
NM_001353140.2 NCBI
GAAACUCAACCGAAAGCCUGCAGAGAGCAGAACAUGGAAGGAGACUUCU… 3274 nt 0.4224
NM_017523.5 NCBI
GAAACUCAACCGAAAGCCUGCAGAGAGCAGAACAUGGAAGGAGACUUCU… 3417 nt 0.4223
NM_199139.4 NCBI
GAAACUCAACCGAAAGCCUGCAGAGAGCAGAACAUGGAAGGAGACUUCU… 3360 nt 0.4208
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]

Forensic Context

A study in human cardiac tissue from ischemic cardiomyopathy patients demonstrated that the XAF1 gene, which is involved in the regulation of apoptosis, was increased in the arterial endothelial cell population [Simonson et al. DOI:10.1016/j.celrep.2023.112086].