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UniProtKB - Q6GPH4 (XAF1_HUMAN)

Protein

XIAP-associated factor 1

Gene

XAF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosis protein) family. Inhibits anti-caspase activity of BIRC4. Induces cleavage and inactivation of BIRC4 independent of caspase activation. Mediates TNF-alpha-induced apoptosis and is involved in apoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrial apoptosis pathway. After translocation to mitochondria, promotes translocation of BAX to mitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution of BIRC4 from the cytoplasm to the nucleus, probably independent of BIRC4 inactivation which seems to occur in the cytoplasm. The BIRC4-XAF1 complex mediates down-regulation of BIRC5/survivin; the process requires the E3 ligase activity of BIRC4. Seems to be involved in cellular sensitivity to the proapoptotic actions of TRAIL. May be a tumor suppressor by mediating apoptosis resistance of cancer cells.5 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri22 – 99TRAF-typePROSITE-ProRule annotationAdd BLAST78

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processApoptosis
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-909733 Interferon alpha/beta signaling
SIGNORiQ6GPH4

Names & Taxonomyi

Protein namesi
Recommended name:
XIAP-associated factor 1
Alternative name(s):
BIRC4-binding protein
Gene namesi
Name:XAF1
Synonyms:BIRC4BP, XIAPAF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000132530.16
HGNCiHGNC:30932 XAF1
MIMi606717 gene
neXtProtiNX_Q6GPH4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

Pathology & Biotechi

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi54739
OpenTargetsiENSG00000132530
PharmGKBiPA162409299

Polymorphism and mutation databases

BioMutaiXAF1
DMDMi74736479

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003290281 – 301XIAP-associated factor 1Add BLAST301

Proteomic databases

MaxQBiQ6GPH4
PaxDbiQ6GPH4
PeptideAtlasiQ6GPH4
PRIDEiQ6GPH4
ProteomicsDBi66307
66308 [Q6GPH4-2]
66309 [Q6GPH4-3]
66310 [Q6GPH4-4]
66311 [Q6GPH4-5]
66312 [Q6GPH4-6]
66313 [Q6GPH4-7]

PTM databases

iPTMnetiQ6GPH4
PhosphoSitePlusiQ6GPH4

Expressioni

Tissue specificityi

Widely expressed. Expression is frequently down-regulated in cancer cell lines. Isoform 5 is widely expressed. Expressed in placenta (at protein level).4 Publications

Developmental stagei

Selectively expressed in third trimester placenta.1 Publication

Inductioni

Up-regulated by IFNB1/IFN-beta in cell lines sensitive to the proapoptotic effects of IFNB1 but not in apoptosis-resistant cells. Up-regulated by TNF in trophoblast cells.2 Publications

Gene expression databases

BgeeiENSG00000132530 Expressed in 206 organ(s), highest expression level in right ovary
CleanExiHS_XAF1
ExpressionAtlasiQ6GPH4 baseline and differential
GenevisibleiQ6GPH4 HS

Organism-specific databases

HPAiHPA057302

Interactioni

Subunit structurei

Interacts with BIRC4; the interaction is not detected in (PubMed:16432762). Interacts with BIRC1, BIRC2, BIRC3, BIRC7 and BIRC8. Part of an complex consisting of BIRC4, XAF1 and BIRC5; the complex formation requires IFN-beta stimulation. Interacts with RNF114, the interaction increases XAF1 stability and proapoptotic effects, and may regulate IFN signaling.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
RNF166Q96A374EBI-2815120,EBI-2130320

Protein-protein interaction databases

BioGridi120121, 21 interactors
IntActiQ6GPH4, 15 interactors
STRINGi9606.ENSP00000354822

Structurei

Secondary structure

1301
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ6GPH4
SMRiQ6GPH4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri22 – 99TRAF-typePROSITE-ProRule annotationAdd BLAST78

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IK96 Eukaryota
ENOG4110HW5 LUCA
GeneTreeiENSGT00530000063869
HOVERGENiHBG108681
InParanoidiQ6GPH4
OMAiCAMCQQS
OrthoDBiEOG091G0OSL
PhylomeDBiQ6GPH4
TreeFamiTF331416

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR031220 XAF1
IPR013083 Znf_RING/FYVE/PHD
IPR001293 Znf_TRAF
PANTHERiPTHR16295:SF17 PTHR16295:SF17, 1 hit
PROSITEiView protein in PROSITE
PS50145 ZF_TRAF, 1 hit

Sequences (7+)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6GPH4-1) [UniParc]FASTAAdd to basket
Also known as: XAF1(A)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEGDFSVCRN CKRHVVSANF TLHEAYCLRF LVLCPECEEP VPKETMEEHC 
        60         70         80         90        100
KLEHQQVGCT MCQQSMQKSS LEFHKANECQ ERPVECKFCK LDMQLSKLEL 
       110        120        130        140        150
HESYCGSRTE LCQGCGQFIM HRMLAQHRDV CRSEQAQLGK GERISAPERE 
       160        170        180        190        200
IYCHYCNQMI PENKYFHHMG KCCPDSEFKK HFPVGNPEIL PSSLPSQAAE 
       210        220        230        240        250
NQTSTMEKDV RPKTRSINRF PLHSESSSKK APRSKNKTLD PLLMSEPKPR 
       260        270        280        290        300
TSSPRGDKAA YDILRRCSQC GILLPLPILN QHQEKCRWLA SSKGKQVRNF 

S
Length:301
Mass (Da):34,626
Last modified:July 19, 2004 - v1
Checksum:iFC9D48BD07BE541D
GO
Isoform 2 (identifier: Q6GPH4-2) [UniParc]FASTAAdd to basket
Also known as: XAF1B

The sequence of this isoform differs from the canonical sequence as follows:
     57-75: Missing.

Show »
Length:282
Mass (Da):32,471
Checksum:i6EAC4F7EC6F8E64A
GO
Isoform 3 (identifier: Q6GPH4-3) [UniParc]FASTAAdd to basket
Also known as: D

The sequence of this isoform differs from the canonical sequence as follows:
     142-301: Missing.

Show »
Length:141
Mass (Da):16,322
Checksum:iB286A33BC34A10A2
GO
Isoform 4 (identifier: Q6GPH4-4) [UniParc]FASTAAdd to basket
Also known as: E

The sequence of this isoform differs from the canonical sequence as follows:
     57-75: Missing.
     142-301: Missing.

Show »
Length:122
Mass (Da):14,167
Checksum:i36CC8B71B4DCCD8A
GO
Isoform 5 (identifier: Q6GPH4-5) [UniParc]FASTAAdd to basket
Also known as: XAF1C

The sequence of this isoform differs from the canonical sequence as follows:
     141-301: GERISAPERE...SKGKQVRNFS → ETSPDPGKCLSITVAAALSAHLWPFT

Show »
Length:166
Mass (Da):18,960
Checksum:i0EDD81DA26C30B50
GO
Isoform 6 (identifier: Q6GPH4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: Missing.
     103-140: SYCGSRTELC...CRSEQAQLGK → MSLHYGCCCP...ACVVKDAGSA

Show »
Length:199
Mass (Da):22,507
Checksum:iFCA89ECA5FB0ED46
GO
Isoform 7 (identifier: Q6GPH4-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     57-74: VGCTMCQQSMQKSSLEFH → GKEFQLLKGKSTVIIATK

Note: No experimental confirmation available.
Show »
Length:301
Mass (Da):34,543
Checksum:i556947EBEFD6B84E
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J7Z8C9J7Z8_HUMAN
XIAP-associated factor 1
XAF1
164Annotation score:
I3L3D9I3L3D9_HUMAN
XIAP-associated factor 1
XAF1
133Annotation score:
I3L509I3L509_HUMAN
XIAP-associated factor 1
XAF1
145Annotation score:
I3L3Q2I3L3Q2_HUMAN
XIAP-associated factor 1
XAF1
63Annotation score:
I3L3B3I3L3B3_HUMAN
XIAP-associated factor 1
XAF1
190Annotation score:
I3L2B3I3L2B3_HUMAN
XIAP-associated factor 1
XAF1
74Annotation score:
I3L534I3L534_HUMAN
XIAP-associated factor 1
XAF1
128Annotation score:

Sequence cautioni

The sequence AAH32776 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAA68030 differs from that shown. Reason: Frameshift at position 294.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti132R → Q in BAF85537 (PubMed:14702039).Curated1
Sequence conflicti138L → R in BAF85537 (PubMed:14702039).Curated1
Sequence conflicti196S → R in BAF85537 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04261685E → G. Corresponds to variant dbSNP:rs34195599Ensembl.1
Natural variantiVAR_042617132R → H. Corresponds to variant dbSNP:rs2271232Ensembl.1
Natural variantiVAR_042618188E → K. Corresponds to variant dbSNP:rs34625877Ensembl.1
Natural variantiVAR_042619219R → I. Corresponds to variant dbSNP:rs3736433Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0329181 – 102Missing in isoform 6. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_03291957 – 75Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_03292057 – 74VGCTM…SLEFH → GKEFQLLKGKSTVIIATK in isoform 7. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_032921103 – 140SYCGS…AQLGK → MSLHYGCCCPECTSVAIKEM MWVIRPRVACVVKDAGSA in isoform 6. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_032922141 – 301GERIS…VRNFS → ETSPDPGKCLSITVAAALSA HLWPFT in isoform 5. CuratedAdd BLAST161
Alternative sequenceiVSP_032923142 – 301Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST160

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X99699 mRNA Translation: CAA68030.1 Frameshift.
EF028165 mRNA Translation: ABM74556.1
EF028166 mRNA Translation: ABM74557.1
AK290276 mRNA Translation: BAF82965.1
AK292710 mRNA Translation: BAF85399.1
AK292848 mRNA Translation: BAF85537.1
CH471108 Genomic DNA Translation: EAW90288.1
CH471108 Genomic DNA Translation: EAW90289.1
BC032776 mRNA Translation: AAH32776.1 Different initiation.
BC073156 mRNA Translation: AAH73156.1
BX649188 mRNA Translation: CAE46206.1
CCDSiCCDS11080.1 [Q6GPH4-1]
CCDS11081.1 [Q6GPH4-2]
RefSeqiNP_059993.2, NM_017523.3 [Q6GPH4-1]
NP_954590.1, NM_199139.2 [Q6GPH4-2]
XP_005256765.1, XM_005256708.2 [Q6GPH4-6]
UniGeneiHs.441975

Genome annotation databases

EnsembliENST00000346752; ENSP00000341029; ENSG00000132530 [Q6GPH4-2]
ENST00000361842; ENSP00000354822; ENSG00000132530 [Q6GPH4-1]
ENST00000571673; ENSP00000461196; ENSG00000132530 [Q6GPH4-4]
ENST00000574962; ENSP00000458229; ENSG00000132530 [Q6GPH4-3]
GeneIDi54739
KEGGihsa:54739
UCSCiuc002gdn.4 human [Q6GPH4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X99699 mRNA Translation: CAA68030.1 Frameshift.
EF028165 mRNA Translation: ABM74556.1
EF028166 mRNA Translation: ABM74557.1
AK290276 mRNA Translation: BAF82965.1
AK292710 mRNA Translation: BAF85399.1
AK292848 mRNA Translation: BAF85537.1
CH471108 Genomic DNA Translation: EAW90288.1
CH471108 Genomic DNA Translation: EAW90289.1
BC032776 mRNA Translation: AAH32776.1 Different initiation.
BC073156 mRNA Translation: AAH73156.1
BX649188 mRNA Translation: CAE46206.1
CCDSiCCDS11080.1 [Q6GPH4-1]
CCDS11081.1 [Q6GPH4-2]
RefSeqiNP_059993.2, NM_017523.3 [Q6GPH4-1]
NP_954590.1, NM_199139.2 [Q6GPH4-2]
XP_005256765.1, XM_005256708.2 [Q6GPH4-6]
UniGeneiHs.441975

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LXWNMR-A251-301[»]
ProteinModelPortaliQ6GPH4
SMRiQ6GPH4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120121, 21 interactors
IntActiQ6GPH4, 15 interactors
STRINGi9606.ENSP00000354822

PTM databases

iPTMnetiQ6GPH4
PhosphoSitePlusiQ6GPH4

Polymorphism and mutation databases

BioMutaiXAF1
DMDMi74736479

Proteomic databases

MaxQBiQ6GPH4
PaxDbiQ6GPH4
PeptideAtlasiQ6GPH4
PRIDEiQ6GPH4
ProteomicsDBi66307
66308 [Q6GPH4-2]
66309 [Q6GPH4-3]
66310 [Q6GPH4-4]
66311 [Q6GPH4-5]
66312 [Q6GPH4-6]
66313 [Q6GPH4-7]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000346752; ENSP00000341029; ENSG00000132530 [Q6GPH4-2]
ENST00000361842; ENSP00000354822; ENSG00000132530 [Q6GPH4-1]
ENST00000571673; ENSP00000461196; ENSG00000132530 [Q6GPH4-4]
ENST00000574962; ENSP00000458229; ENSG00000132530 [Q6GPH4-3]
GeneIDi54739
KEGGihsa:54739
UCSCiuc002gdn.4 human [Q6GPH4-1]

Organism-specific databases

CTDi54739
DisGeNETi54739
EuPathDBiHostDB:ENSG00000132530.16
GeneCardsiXAF1
HGNCiHGNC:30932 XAF1
HPAiHPA057302
MIMi606717 gene
neXtProtiNX_Q6GPH4
OpenTargetsiENSG00000132530
PharmGKBiPA162409299
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK96 Eukaryota
ENOG4110HW5 LUCA
GeneTreeiENSGT00530000063869
HOVERGENiHBG108681
InParanoidiQ6GPH4
OMAiCAMCQQS
OrthoDBiEOG091G0OSL
PhylomeDBiQ6GPH4
TreeFamiTF331416

Enzyme and pathway databases

ReactomeiR-HSA-909733 Interferon alpha/beta signaling
SIGNORiQ6GPH4

Miscellaneous databases

ChiTaRSiXAF1 human
GeneWikiiXAF1
GenomeRNAii54739
PROiPR:Q6GPH4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132530 Expressed in 206 organ(s), highest expression level in right ovary
CleanExiHS_XAF1
ExpressionAtlasiQ6GPH4 baseline and differential
GenevisibleiQ6GPH4 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR031220 XAF1
IPR013083 Znf_RING/FYVE/PHD
IPR001293 Znf_TRAF
PANTHERiPTHR16295:SF17 PTHR16295:SF17, 1 hit
PROSITEiView protein in PROSITE
PS50145 ZF_TRAF, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiXAF1_HUMAN
AccessioniPrimary (citable) accession number: Q6GPH4
Secondary accession number(s): A2T931
, A2T932, A8K2L1, A8K9Y3, D3DTM6, Q6MZE8, Q8N557, Q99982
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: July 19, 2004
Last modified: November 7, 2018
This is version 116 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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