XAF1

Protein-coding gene in the species Homo sapiens

XAF1

Available structures

PDB

Ortholog search: PDBe RCSB

List of PDB id codes
2LXW

Identifiers

Aliases

XAF1, BIRC4BP, HSXIAPAF1, XIAPAF1, XIAP associated factor 1

External IDs

OMIM: 606717; MGI: 3772572; HomoloGene: 49488; GeneCards: XAF1; OMA:XAF1 - orthologs

Gene location (Human)

Chr.	Chromosome 17 (human)^[1]

Band	17p13.1	Start	6,755,447 bp^[1]
Band	17p13.1	End	6,775,647 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 11 (mouse)^[2]

Band	11\|11 B4	Start	72,192,455 bp^[2]
Band	11\|11 B4	End	72,204,559 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

apex of heart

right ovary

left ovary

gallbladder

right uterine tube

monocyte

right lobe of liver

visceral pleura

spleen

endothelial cell

Top expressed in

decidua

cervix

right lung

epithelium of small intestine

right lung lobe

subcutaneous adipose tissue

carotid body

gastrula

sciatic nerve

duodenum

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	metal ion binding zinc ion binding
Cellular component	cytosol cytoplasm nucleus mitochondrion
Biological process	apoptotic process type I interferon signaling pathway response to interferon-beta
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


54739


327959

Ensembl


ENSG00000132530


ENSMUSG00000040483

UniProt


Q6GPH4


Q5NBU8

RefSeq (mRNA)

NM_017523 NM_199139 NM_001353134 NM_001353135 NM_001353136
NM_001353137 NM_001353138 NM_001353139 NM_001353140


NM_001037713 NM_001291153

RefSeq (protein)

NP_059993 NP_954590 NP_001340063 NP_001340064 NP_001340065
NP_001340066 NP_001340067 NP_001340068 NP_001340069


NP_001032802 NP_001278082

Location (UCSC)

Chr 17: 6.76 – 6.78 Mb

Chr 11: 72.19 – 72.2 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

XIAP-associated factor 1 is a protein that in humans is encoded by the XAF1 gene.^[5]^[6]^[7]

Function

X-linked inhibitor of apoptosis (XIAP; MIM 300079) is a potent member of the IAP family. All members of this family possess baculoviral IAP (BIR) repeats, cysteine-rich domains of approximately 80 amino acids that bind and inhibit caspases (e.g., CASP3; MIM 600636). XIAP has 3 BIR domains and a C-terminal RING zinc finger that possesses E3 ubiquitin ligase (see MIM 601623) activity. XAF1 antagonizes the anticaspase activity of XIAP and may be important in mediating apoptosis resistance in cancer cells (Liston et al., 2001).[supplied by OMIM]^[7]

Interactions

XAF1 has been shown to interact with XIAP.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000132530 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040483 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Leaman DW, Chawla-Sarkar M, Vyas K, Reheman M, Tamai K, Toji S, Borden EC (Aug 2002). "Identification of X-linked inhibitor of apoptosis-associated factor-1 as an interferon-stimulated gene that augments TRAIL Apo2L-induced apoptosis". J. Biol. Chem. 277 (32): 28504–11. doi:10.1074/jbc.M204851200. PMID 12029096.
^ ^a ^b Liston P, Fong WG, Kelly NL, Toji S, Miyazaki T, Conte D, Tamai K, Craig CG, McBurney MW, Korneluk RG (Feb 2001). "Identification of XAF1 as an antagonist of XIAP anti-Caspase activity". Nat. Cell Biol. 3 (2): 128–33. doi:10.1038/35055027. PMID 11175744. S2CID 19731886.
^ ^a ^b "Entrez Gene: XAF1 XIAP associated factor-1".

Fong WG, Liston P, Rajcan-Separovic E, St Jean M, Craig C, Korneluk RG (2000). "Expression and genetic analysis of XIAP-associated factor 1 (XAF1) in cancer cell lines". Genomics. 70 (1): 113–22. doi:10.1006/geno.2000.6364. PMID 11087668.
Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K (2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts". Mol. Vis. 8: 196–204. PMID 12107411.
Byun DS, Cho K, Ryu BK, Lee MG, Kang MJ, Kim HR, Chi SG (2003). "Hypermethylation of XIAP-associated factor 1, a putative tumor suppressor gene from the 17p13.2 locus, in human gastric adenocarcinomas". Cancer Res. 63 (21): 7068–75. PMID 14612497.
Ng KC, Campos EI, Martinka M, Li G (2004). "XAF1 expression is significantly reduced in human melanoma". J. Invest. Dermatol. 123 (6): 1127–34. doi:10.1111/j.0022-202X.2004.23467.x. PMID 15610524.
Wang J, He H, Yu L, Xia HH, Lin MC, Gu Q, Li M, Zou B, An X, Jiang B, Kung HF, Wong BC (2006). "HSF1 down-regulates XAF1 through transcriptional regulation". J. Biol. Chem. 281 (5): 2451–9. doi:10.1074/jbc.M505890200. PMID 16303760.
Yin W, Cheepala S, Clifford JL (2006). "Identification of a novel splice variant of X-linked inhibitor of apoptosis-associated factor 1". Biochem. Biophys. Res. Commun. 339 (4): 1148–54. doi:10.1016/j.bbrc.2005.11.128. PMID 16343440.
Fang X, Liu Z, Fan Y, Zheng C, Nilson S, Egevad L, Ekman P, Xu D (2006). "Switch to full-length of XAF1 mRNA expression in prostate cancer cells by the DNA methylation inhibitor". Int. J. Cancer. 118 (10): 2485–9. doi:10.1002/ijc.21636. PMID 16353137. S2CID 43629966.
Gilli F, Marnetto F, Caldano M, Sala A, Malucchi S, Capobianco M, Bertolotto A (2006). "Biological markers of interferon-beta therapy: comparison among interferon-stimulated genes MxA, TRAIL and XAF-1". Mult. Scler. 12 (1): 47–57. doi:10.1191/135248506ms1245oa. PMID 16459719. S2CID 34530563.
Reu FJ, Bae SI, Cherkassky L, Leaman DW, Lindner D, Beaulieu N, MacLeod AR, Borden EC (2006). "Overcoming resistance to interferon-induced apoptosis of renal carcinoma and melanoma cells by DNA demethylation". J. Clin. Oncol. 24 (23): 3771–9. CiteSeerX 10.1.1.1025.9291. doi:10.1200/JCO.2005.03.4074. PMID 16801630.
Lee MG, Huh JS, Chung SK, Lee JH, Byun DS, Ryu BK, Kang MJ, Chae KS, Lee SJ, Lee CH, Kim JI, Chang SG, Chi SG (2006). "Promoter CpG hypermethylation and downregulation of XAF1 expression in human urogenital malignancies: implication for attenuated p53 response to apoptotic stresses". Oncogene. 25 (42): 5807–22. doi:10.1038/sj.onc.1209867. PMID 16909101.
Zou B, Chim CS, Zeng H, Leung SY, Yang Y, Tu SP, Lin MC, Wang J, He H, Jiang SH, Sun YW, Yu LF, Yuen ST, Kung HF, Wong BC (2006). "Correlation between the single-site CpG methylation and expression silencing of the XAF1 gene in human gastric and colon cancers". Gastroenterology. 131 (6): 1835–43. doi:10.1053/j.gastro.2006.09.050. PMID 17087954.
Micali OC, Cheung HH, Plenchette S, Hurley SL, Liston P, LaCasse EC, Korneluk RG (2007). "Silencing of the XAF1 gene by promoter hypermethylation in cancer cells and reactivation to TRAIL-sensitization by IFN-beta". BMC Cancer. 7: 52. doi:10.1186/1471-2407-7-52. PMC 1845166. PMID 17376236.
Kempkensteffen C, Hinz S, Schrader M, Christoph F, Magheli A, Krause H, Schostak M, Miller K, Weikert S (2007). "Gene expression and promoter methylation of the XIAP-associated Factor 1 in renal cell carcinomas: correlations with pathology and outcome". Cancer Lett. 254 (2): 227–35. doi:10.1016/j.canlet.2007.03.006. PMID 17449173.
Shibata T, Mahotka C, Wethkamp N, Heikaus S, Gabbert HE, Ramp U (2007). "Disturbed expression of the apoptosis regulators XIAP, XAF1, and Smac/DIABLO in gastric adenocarcinomas". Diagn. Mol. Pathol. 16 (1): 1–8. doi:10.1097/01.pdm.0000213471.92925.51. PMID 17471152. S2CID 43822747.
Chung SK, Lee MG, Ryu BK, Lee JH, Han J, Byun DS, Chae KS, Lee KY, Jang JY, Kim HJ, Chi SG (2007). "Frequent alteration of XAF1 in human colorectal cancers: implication for tumor cell resistance to apoptotic stresses". Gastroenterology. 132 (7): 2459–77. doi:10.1053/j.gastro.2007.04.024. PMID 17570219.
Arora V, Cheung HH, Plenchette S, Micali OC, Liston P, Korneluk RG (2007). "Degradation of survivin by the X-linked inhibitor of apoptosis (XIAP)-XAF1 complex". J. Biol. Chem. 282 (36): 26202–9. doi:10.1074/jbc.M700776200. PMID 17613533.