Q9UNN5 (FAF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
FAS-associated factor 1
Short name=hFAF1

Alternative name(s):
UBX domain-containing protein 12
UBX domain-containing protein 3A

Gene names

Name:	FAF1
Synonyms:	UBXD12, UBXN3A
ORF Names:	CGI-03

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	650 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Potentiates but cannot initiate FAS-induced apoptosis.
Subunit structure	Specifically interacts with the cytoplasmic domain of FAS.
Subcellular location	Nucleus Potential.
Tissue specificity	Most abundant in testis, slightly less abundant in skeletal muscle and heart, followed by prostate, thymus, ovary, small intestine, and colon. Not detected in the peripheral blood leukocytes.
Sequence similarities	Contains 1 UBX domain.
Sequence caution	The sequence AAD51876.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Apoptosis
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	apoptotic process Inferred from electronic annotation. Source: UniProtKB-KW cytoplasmic sequestering of NF-kappaB Inferred from mutant phenotype. Source: UniProtKB positive regulation of apoptotic process Non-traceable author statement Ref.1. Source: UniProtKB positive regulation of protein complex assembly Inferred from mutant phenotype. Source: UniProtKB proteasomal ubiquitin-dependent protein catabolic process Non-traceable author statement. Source: UniProtKB regulation of protein catabolic process Inferred from mutant phenotype. Source: UniProtKB
Cellular component	CD95 death-inducing signaling complex Non-traceable author statement. Source: UniProtKB Cdc48p-Npl4p-Ufd1p AAA ATPase complex Inferred from direct assay. Source: BHF-UCL cytosol Inferred from direct assay. Source: UniProtKB perinuclear region of cytoplasm Inferred from direct assay. Source: UniProtKB
Molecular function	NF-kappaB binding Inferred from physical interaction. Source: UniProtKB heat shock protein binding Inferred from direct assay. Source: UniProtKB protein kinase binding Inferred from direct assay. Source: UniProtKB protein kinase regulator activity Non-traceable author statement. Source: UniProtKB ubiquitin binding Inferred from direct assay. Source: BHF-UCL ubiquitin protein ligase binding Inferred from direct assay. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: Q9UNN5-1)

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.

Isoform Short (identifier: Q9UNN5-2)

Also known as: hFAF1(s);

The sequence of this isoform differs from the canonical sequence as follows:
     188-339: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 650

650

FAS-associated factor 1

PRO_0000211038

Regions

Domain

569 – 646

78

UBX

Amino acid modifications

Modified residue

225

1

Phosphotyrosine Ref.6

Modified residue

270

1

Phosphoserine By similarity

Modified residue

320

1

Phosphoserine Ref.7 Ref.8

Modified residue

580

1

Phosphothreonine By similarity

Modified residue

582

1

Phosphoserine Ref.8

Natural variations

Alternative sequence

188 – 339

152

Missing in isoform Short.

VSP_006704

Experimental info

Sequence conflict

448

1

F → K in AAD51886. Ref.1

Sequence conflict

448

1

F → K in AAD51876. Ref.1

Sequence conflict

498

1

E → G in AAD51886. Ref.1

Sequence conflict

498

1

E → G in AAD51876. Ref.1

Sequence conflict

529

1

H → R in AAD51886. Ref.1

Sequence conflict

529

1

H → R in AAD51876. Ref.1

Secondary structure

1

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650

Helix Strand Turn

Details...

Beta strand

100 – 106

7

Beta strand

111 – 117

7

Helix

122 – 133

12

Turn

137 – 139

3

Beta strand

146 – 148

3

Helix

156 – 159

4

Beta strand

163 – 169

7

Beta strand

172 – 174

3

Helix

330 – 345

16

Helix

357 – 362

6

Beta strand

365 – 367

3

Turn

369 – 371

3

Beta strand

374 – 380

7

Helix

386 – 393

8

Turn

394 – 396

3

Helix

398 – 406

9

Beta strand

408 – 414

7

Helix

418 – 431

14

Helix

434 – 442

9

Beta strand

449 – 454

6

Beta strand

463 – 467

5

Helix

473 – 490

18

Beta strand

574 – 579

6

Beta strand

585 – 590

6

Helix

596 – 605

10

Beta strand

610 – 617

8

Turn

618 – 621

4

Turn

624 – 626

3

Helix

633 – 636

4

Beta strand

640 – 648

9

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified May 2, 2002. Version 2. Checksum: 7FB9018B9A230488	FASTA	650	73,954
	10 20 30 40 50 60 MASNMDREMI LADFQACTGI ENIDEAITLL EQNNWDLVAA INGVIPQENG ILQSEYGGET 70 80 90 100 110 120 IPGPAFNPAS HPASAPTSSS SSAFRPVMPS RQIVERQPRM LDFRVEYRDR NVDVVLEDTC 130 140 150 160 170 180 TVGEIKQILE NELQIPVSKM LLKGWKTGDV EDSTVLKSLH LPKNNSLYVL TPDLPPPSSS 190 200 210 220 230 240 SHAGALQESL NQNFMLIITH REVQREYNLN FSGSSTIQEV KRNVYDLTSI PVRHQLWEGW 250 260 270 280 290 300 PTSATDDSMC LAESGLSYPC HRLTVGRRSS PAQTREQSEE QITDVHMVSD SDGDDFEDAT 310 320 330 340 350 360 EFGVDDGEVF GMASSALRKS PMMPENAENE GDALLQFTAE FSSRYGDCHP VFFIGSLEAA 370 380 390 400 410 420 FQEAFYVKAR DRKLLAIYLH HDESVLTNVF CSQMLCAESI VSYLSQNFIT WAWDLTKDSN 430 440 450 460 470 480 RARFLTMCNR HFGSVVAQTI RTQKTDQFPL FLIIMGKRSS NEVLNVIQGN TTVDELMMRL 490 500 510 520 530 540 MAAMEIFTAQ QQEDIKDEDE REARENVKRE QDEAYRLSLE ADRAKREAHE REMAEQFRLE 550 560 570 580 590 600 QIRKEQEEER EAIRLSLEQA LPPEPKEENA EPVSKLRIRT PSGEFLERRF LASNKLQIVF 610 620 630 640 650 DFVASKGFPW DEYKLLSTFP RRDVTQLDPN KSLLEVKLFP QETLFLEAKE
	Isoform Short (hFAF1(s)) [UniParc]. Checksum: A9B444F8E8257017	FASTA	498	56,934
	10 20 30 40 50 60 MASNMDREMI LADFQACTGI ENIDEAITLL EQNNWDLVAA INGVIPQENG ILQSEYGGET 70 80 90 100 110 120 IPGPAFNPAS HPASAPTSSS SSAFRPVMPS RQIVERQPRM LDFRVEYRDR NVDVVLEDTC 130 140 150 160 170 180 TVGEIKQILE NELQIPVSKM LLKGWKTGDV EDSTVLKSLH LPKNNSLYVL TPDLPPPSSS 190 200 210 220 230 240 SHAGALQEFS SRYGDCHPVF FIGSLEAAFQ EAFYVKARDR KLLAIYLHHD ESVLTNVFCS 250 260 270 280 290 300 QMLCAESIVS YLSQNFITWA WDLTKDSNRA RFLTMCNRHF GSVVAQTIRT QKTDQFPLFL 310 320 330 340 350 360 IIMGKRSSNE VLNVIQGNTT VDELMMRLMA AMEIFTAQQQ EDIKDEDERE ARENVKREQD 370 380 390 400 410 420 EAYRLSLEAD RAKREAHERE MAEQFRLEQI RKEQEEEREA IRLSLEQALP PEPKEENAEP 430 440 450 460 470 480 VSKLRIRTPS GEFLERRFLA SNKLQIVFDF VASKGFPWDE YKLLSTFPRR DVTQLDPNKS 490 LLEVKLFPQE TLFLEAKE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of human Fas associated factor 1, hFAF1." Ryu S.-W., Chae S.-K., Lee K.-J., Kim E. Biochem. Biophys. Res. Commun. 262:388-394(1999) [PubMed: 10462485] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), CHARACTERIZATION. Tissue: Brain and Liver.
[2]	"Full length cDNA sequence and chromosomal localization of the human Fas-associated factor 1 gene, hFaf1." Boldyreff B. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
[3]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed: 10810093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG). Tissue: Brain and Kidney.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 97-650 (ISOFORM LONG). Tissue: Testis.
[6]	"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells." Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J. Nat. Biotechnol. 23:94-101(2005) [PubMed: 15592455] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-225, MASS SPECTROMETRY.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-320, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-320 AND SER-582, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[9]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]	"The UBX domain: a widespread ubiquitin-like module." Buchberger A., Howard M.J., Proctor M., Bycroft M.M. J. Mol. Biol. 307:17-24(2001) [PubMed: 11243799] [Abstract] Cited for: STRUCTURE BY NMR OF 569-650.
[11]	"Solution structure of the ubiquitin-like domain in human FAS-associated factor 1 (hFAF1)." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 99-191.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF106798 mRNA. Translation: AAD51886.1.
AF094700 mRNA. Translation: AAD51876.1. Different initiation.
AJ271408 mRNA. Translation: CAB67705.1.
AF132938 mRNA. Translation: AAD27713.1.
BC004970 mRNA. Translation: AAH04970.1.
BC067100 mRNA. Translation: AAH67100.1.
AL133631 mRNA. Translation: CAB63755.1.

IPI

IPI00070643.
IPI00219265.

PIR

JC7093.
T43466.

RefSeq

NP_008982.1. NM_007051.2.

UniGene

Hs.530402.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1H8C	NMR	-	A	569-650	[»]
2DZM	NMR	-	A	99-191	[»]
2EC4	NMR	-	A	325-495	[»]
3E21	X-ray	1.73	A	5-47	[»]
3QC8	X-ray	2.20	B	571-650	[»]
3QCA	X-ray	2.90	A/B/C/D	571-650	[»]
3QQ8	X-ray	2.00	B	568-650	[»]
3R3M	X-ray	3.00	A/B/C/D	568-650	[»]

ProteinModelPortal

Q9UNN5.

SMR

Q9UNN5. Positions 5-44, 99-191, 325-495, 570-649.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9UNN5. 26 interactions.

MINT

MINT-88745.

STRING

Q9UNN5.

PTM databases

PhosphoSite

Q9UNN5.

Polymorphism databases

DMDM

20454906.

Proteomic databases

PRIDE

Q9UNN5.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000396153; ENSP00000379457; ENSG00000185104.

GeneID

11124.

KEGG

hsa:11124.

UCSC

uc001cse.1. human.

Organism-specific databases

CTD

11124.

GeneCards

GC01M050905.

H-InvDB

HIX0000568.

HGNC

HGNC:3578. FAF1.

HPA

HPA018253.
HPA019008.

MIM

604460. gene.

neXtProt

NX_Q9UNN5.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG16537.

GeneTree

ENSGT00530000063422.

HOGENOM

HBG446902.

HOVERGEN

HBG002876.

InParanoid

Q9UNN5.

OMA

ADFQACT.

OrthoDB

EOG4229JC.

PhylomeDB

Q9UNN5.

Enzyme and pathway databases

Pathway_Interaction_DB

faspathway. FAS signaling pathway (CD95).

Gene expression databases

ArrayExpress

Q9UNN5.

Bgee

Q9UNN5.

CleanEx

HS_FAF1.

Genevestigator

Q9UNN5.

GermOnline

ENSG00000185104. Homo sapiens.

Family and domain databases

InterPro

IPR006577. UAS.
IPR001012. UBX.
[Graphical view]

Pfam

PF00789. UBX. 1 hit.
[Graphical view]

SMART

SM00594. UAS. 1 hit.
SM00166. UBX. 1 hit.
[Graphical view]

PROSITE

PS50033. UBX. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

42280.

SOURCE

Search...

Entry information

Entry name

FAF1_HUMAN

Accession

Primary (citable) accession number: Q9UNN5
Secondary accession number(s): Q9UF34, Q9UNT3, Q9Y2Z3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2002
Last sequence update:	May 2, 2002
Last modified:	January 25, 2012
This is version 110 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.