Q6K0P9 (IFIX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Pyrin and HIN domain-containing protein 1

Alternative name(s):
Interferon-inducible protein X

Gene names

Name:	PYHIN1
Synonyms:	IFIX

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	492 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Major mediator of the tumor suppressor activity of IFN in breast cancer cells. Promotes ubiquitination and subsequent degradation of MDM2, which leads to p53/TP53 stabilization. Promotes ubiquitination and subsequent degradation of HDAC1, which in turn enhances maspin expression, and impairs invasive activity of cancer cells. Ref.5 Ref.6
Subunit structure	Interacts with MDM2. Ref.5
Subcellular location	Isoform 1: Nucleus › nucleoplasm Ref.1. Isoform 3: Nucleus › nucleoplasm Ref.1. Isoform 5: Nucleus. Nucleus speckle Ref.1.
Tissue specificity	Expressed in spleen, lymph node and peripheral blood leukocytes, and at lower levels in thymus, bone marrow and fetal liver. Down-regulated in breast tumors. Ref.1
Induction	By IFN-alphas and IFNG/IFN-gamma in hematopoietic cancer cells. Ref.1
Domain	The HIN-200 domain mediates interaction with MDM2.
Sequence similarities	Belongs to the HIN-200 family. Contains 1 DAPIN domain. Contains 1 HIN-200 domain.

Ontologies

Keywords
Biological process	Cell cycle
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Tumor suppressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell cycle Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nuclear speck Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6K0P9-1)

Also known as: alpha1;

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 2 (identifier: Q6K0P9-2)

Also known as: alpha2;

The sequence of this isoform differs from the canonical sequence as follows:
     89-97: Missing.

Isoform 3 (identifier: Q6K0P9-3)

Also known as: beta1;

The sequence of this isoform differs from the canonical sequence as follows:
     454-492: KDETHPGAQSSPANFRITSPTVAPPLSSDTSTNRHPAVP → VTKDKDIK

Isoform 4 (identifier: Q6K0P9-4)

Also known as: beta2;

The sequence of this isoform differs from the canonical sequence as follows:
     89-97: Missing.
     454-492: KDETHPGAQSSPANFRITSPTVAPPLSSDTSTNRHPAVP → VTKDKDIK

Isoform 5 (identifier: Q6K0P9-5)

Also known as: gamma1;

The sequence of this isoform differs from the canonical sequence as follows:
     194-245: SLKPLANRHA...RRMFHATVAT → AYLMNLTLSL...IYYTPIPFAH
     246-492: Missing.

Isoform 6 (identifier: Q6K0P9-6)

Also known as: gamma2;

The sequence of this isoform differs from the canonical sequence as follows:
     89-97: Missing.
     194-245: SLKPLANRHA...RRMFHATVAT → AYLMNLTLSL...IYYTPIPFAH
     246-492: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 492	492	Pyrin and HIN domain-containing protein 1		PRO_0000334524
Regions
	Domain	1 – 88	88	DAPIN
	Domain	199 – 399	201	HIN-200
Natural variations
	Alternative sequence	89 – 97	9	Missing in isoform 2, isoform 4 and isoform 6.		VSP_033657
	Alternative sequence	194 – 245	52	SLKPL…ATVAT → AYLMNLTLSLTAGSFLSCAV WGRDRELRNLELSATDSLST APIYYTPIPFAH in isoform 5 and isoform 6.		VSP_033658
	Alternative sequence	246 – 492	247	Missing in isoform 5 and isoform 6.		VSP_033659
	Alternative sequence	454 – 492	39	KDETH…HPAVP → VTKDKDIK in isoform 3 and isoform 4.		VSP_033660

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (alpha1) [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 8711AABB92477D10	FASTA	492	55,065
	10 20 30 40 50 60 MANNYKKIVL LKGLEVINDY HFRIVKSLLS NDLKLNPKMK EEYDKIQIAD LMEEKFPGDA 70 80 90 100 110 120 GLGKLIEFFK EIPTLGDLAE TLKREKLKVA NKIESIPVKG IIPSKKTKQK EVYPATPACT 130 140 150 160 170 180 PSNRLTAKGA EETLGPQKRK KPSEEETGTK RSKMSKEQTR PSCSAGASTS TAMGRSPPPQ 190 200 210 220 230 240 TSSSAPPNTS STESLKPLAN RHATASKNIF REDPIIAMVL NATKVFKYES SENEQRRMFH 250 260 270 280 290 300 ATVATQTQFF HVKVLNINLK RKFIKKRIII ISNYSKRNSL LEVNEASSVS EAGPDQTFEV 310 320 330 340 350 360 PKDIIRRAKK IPKINILHKQ TSGYIVYGLF MLHTKIVNRK TTIYEIQDKT GSMAVVGKGE 370 380 390 400 410 420 CHNIPCEKGD KLRLFCFRLR KRENMSKLMS EMHSFIQIQK NTNQRSHDSR SMALPQEQSQ 430 440 450 460 470 480 HPKPSEASTT LPESHLKTPQ MPPTTPSSSS FTKKDETHPG AQSSPANFRI TSPTVAPPLS 490 SDTSTNRHPA VP
	Isoform 2 (alpha2) [UniParc]. Checksum: 031BBFA420FA6C9E	FASTA	483	54,113
	10 20 30 40 50 60 MANNYKKIVL LKGLEVINDY HFRIVKSLLS NDLKLNPKMK EEYDKIQIAD LMEEKFPGDA 70 80 90 100 110 120 GLGKLIEFFK EIPTLGDLAE TLKREKLKVK GIIPSKKTKQ KEVYPATPAC TPSNRLTAKG 130 140 150 160 170 180 AEETLGPQKR KKPSEEETGT KRSKMSKEQT RPSCSAGAST STAMGRSPPP QTSSSAPPNT 190 200 210 220 230 240 SSTESLKPLA NRHATASKNI FREDPIIAMV LNATKVFKYE SSENEQRRMF HATVATQTQF 250 260 270 280 290 300 FHVKVLNINL KRKFIKKRII IISNYSKRNS LLEVNEASSV SEAGPDQTFE VPKDIIRRAK 310 320 330 340 350 360 KIPKINILHK QTSGYIVYGL FMLHTKIVNR KTTIYEIQDK TGSMAVVGKG ECHNIPCEKG 370 380 390 400 410 420 DKLRLFCFRL RKRENMSKLM SEMHSFIQIQ KNTNQRSHDS RSMALPQEQS QHPKPSEAST 430 440 450 460 470 480 TLPESHLKTP QMPPTTPSSS SFTKKDETHP GAQSSPANFR ITSPTVAPPL SSDTSTNRHP AVP
	Isoform 3 (beta1) [UniParc]. Checksum: F22EB4E2112D7CB7	FASTA	461	51,942
	10 20 30 40 50 60 MANNYKKIVL LKGLEVINDY HFRIVKSLLS NDLKLNPKMK EEYDKIQIAD LMEEKFPGDA 70 80 90 100 110 120 GLGKLIEFFK EIPTLGDLAE TLKREKLKVA NKIESIPVKG IIPSKKTKQK EVYPATPACT 130 140 150 160 170 180 PSNRLTAKGA EETLGPQKRK KPSEEETGTK RSKMSKEQTR PSCSAGASTS TAMGRSPPPQ 190 200 210 220 230 240 TSSSAPPNTS STESLKPLAN RHATASKNIF REDPIIAMVL NATKVFKYES SENEQRRMFH 250 260 270 280 290 300 ATVATQTQFF HVKVLNINLK RKFIKKRIII ISNYSKRNSL LEVNEASSVS EAGPDQTFEV 310 320 330 340 350 360 PKDIIRRAKK IPKINILHKQ TSGYIVYGLF MLHTKIVNRK TTIYEIQDKT GSMAVVGKGE 370 380 390 400 410 420 CHNIPCEKGD KLRLFCFRLR KRENMSKLMS EMHSFIQIQK NTNQRSHDSR SMALPQEQSQ 430 440 450 460 HPKPSEASTT LPESHLKTPQ MPPTTPSSSS FTKVTKDKDI K
	Isoform 4 (beta2) [UniParc]. Checksum: D0EC5EBE88910453	FASTA	452	50,990
	10 20 30 40 50 60 MANNYKKIVL LKGLEVINDY HFRIVKSLLS NDLKLNPKMK EEYDKIQIAD LMEEKFPGDA 70 80 90 100 110 120 GLGKLIEFFK EIPTLGDLAE TLKREKLKVK GIIPSKKTKQ KEVYPATPAC TPSNRLTAKG 130 140 150 160 170 180 AEETLGPQKR KKPSEEETGT KRSKMSKEQT RPSCSAGAST STAMGRSPPP QTSSSAPPNT 190 200 210 220 230 240 SSTESLKPLA NRHATASKNI FREDPIIAMV LNATKVFKYE SSENEQRRMF HATVATQTQF 250 260 270 280 290 300 FHVKVLNINL KRKFIKKRII IISNYSKRNS LLEVNEASSV SEAGPDQTFE VPKDIIRRAK 310 320 330 340 350 360 KIPKINILHK QTSGYIVYGL FMLHTKIVNR KTTIYEIQDK TGSMAVVGKG ECHNIPCEKG 370 380 390 400 410 420 DKLRLFCFRL RKRENMSKLM SEMHSFIQIQ KNTNQRSHDS RSMALPQEQS QHPKPSEAST 430 440 450 TLPESHLKTP QMPPTTPSSS SFTKVTKDKD IK
	Isoform 5 (gamma1) [UniParc]. Checksum: DF21BA91B252774A	FASTA	245	26,951
	10 20 30 40 50 60 MANNYKKIVL LKGLEVINDY HFRIVKSLLS NDLKLNPKMK EEYDKIQIAD LMEEKFPGDA 70 80 90 100 110 120 GLGKLIEFFK EIPTLGDLAE TLKREKLKVA NKIESIPVKG IIPSKKTKQK EVYPATPACT 130 140 150 160 170 180 PSNRLTAKGA EETLGPQKRK KPSEEETGTK RSKMSKEQTR PSCSAGASTS TAMGRSPPPQ 190 200 210 220 230 240 TSSSAPPNTS STEAYLMNLT LSLTAGSFLS CAVWGRDREL RNLELSATDS LSTAPIYYTP IPFAH
	Isoform 6 (gamma2) [UniParc]. Checksum: E1EBF154B6D113A7	FASTA	236	25,999
	10 20 30 40 50 60 MANNYKKIVL LKGLEVINDY HFRIVKSLLS NDLKLNPKMK EEYDKIQIAD LMEEKFPGDA 70 80 90 100 110 120 GLGKLIEFFK EIPTLGDLAE TLKREKLKVK GIIPSKKTKQ KEVYPATPAC TPSNRLTAKG 130 140 150 160 170 180 AEETLGPQKR KKPSEEETGT KRSKMSKEQT RPSCSAGAST STAMGRSPPP QTSSSAPPNT 190 200 210 220 230 SSTEAYLMNL TLSLTAGSFL SCAVWGRDRE LRNLELSATD SLSTAPIYYT PIPFAH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Antitumor activity of IFIX, a novel interferon-inducible HIN-200 gene, in breast cancer." Ding Y., Wang L., Su L.-K., Frey J.A., Shao R., Hunt K.K., Yan D.-H. Oncogene 23:4556-4566(2004) [PubMed: 15122330] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), SUBCELLULAR LOCATION, INDUCTION BY IFN, TISSUE SPECIFICITY.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORMS 2; 3 AND 6). Tissue: Lung.
[5]	"Interferon-inducible protein IFIXalpha1 functions as a negative regulator of HDM2." Ding Y., Lee J.-F., Lu H., Lee M.-H., Yan D.-H. Mol. Cell. Biol. 26:1979-1996(2006) [PubMed: 16479015] [Abstract] Cited for: FUNCTION, INTERACTION WITH MDM2.
[6]	"Interferon-inducible protein IFIXalpha inhibits cell invasion by upregulating the metastasis suppressor maspin." Yamaguchi H., Ding Y., Lee J.-F., Zhang M., Pal A., Bornmann W., Yan D.-H., Hung M.-C. Mol. Carcinog. 47:739-743(2008) [PubMed: 18247378] [Abstract] Cited for: FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY185344 mRNA. Translation: AAO67506.1. AY185345 mRNA. Translation: AAO67507.1. AY185346 mRNA. Translation: AAO67508.1. AY185347 mRNA. Translation: AAO67509.1. AL359753 Genomic DNA. Translation: CAI15075.1. AL359753 Genomic DNA. Translation: CAI15076.1. AL359753 Genomic DNA. Translation: CAI15077.1. AL359753 Genomic DNA. Translation: CAI15078.1. AL359753 Genomic DNA. Translation: CAI15079.1. AL359753 Genomic DNA. Translation: CAI15080.1. CH471121 Genomic DNA. Translation: EAW52805.1. BC020822 mRNA. Translation: AAH20822.1. BC090944 mRNA. Translation: AAH90944.1. BC139741 mRNA. Translation: AAI39742.1.
IPI	IPI00103253. IPI00397542. IPI00397544. IPI00398847. IPI00412281. IPI00893471.
RefSeq	NP_689714.2. NM_152501.4. NP_945146.1. NM_198928.4. NP_945147.1. NM_198929.4. NP_945148.1. NM_198930.3.
UniGene	Hs.710248.
3D structure databases
HSSP	HSSP built from PDB template 2DBG based on UniProtKB P41218.
ProteinModelPortal	Q6K0P9.
SMR	Q6K0P9. Positions 1-90, 208-399.
ModBase	Search...
Protein-protein interaction databases
STRING	Q6K0P9.
PTM databases
PhosphoSite	Q6K0P9.
Polymorphism databases
DMDM	74748871.
Proteomic databases
PRIDE	Q6K0P9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000368140; ENSP00000357122; ENSG00000163564.
GeneID	149628.
KEGG	hsa:149628.
UCSC	uc001fta.2. human. uc001ftb.1. human. uc001ftc.1. human. uc001ftd.1. human. uc001fte.1. human.
Organism-specific databases
CTD	149628.
GeneCards	GC01P158900.
H-InvDB	HIX0001193.
HGNC	HGNC:28894. PYHIN1.
MIM	612677. gene.
neXtProt	NX_Q6K0P9.
PharmGKB	PA134967485.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG09439.
GeneTree	ENSGT00390000013296.
HOGENOM	HBG283725.
HOVERGEN	HBG006122.
InParanoid	Q6K0P9.
OMA	QRSHDSR.
PhylomeDB	Q6K0P9.
Gene expression databases
ArrayExpress	Q6K0P9.
Bgee	Q6K0P9.
CleanEx	HS_PYHIN1.
Genevestigator	Q6K0P9.
Family and domain databases
InterPro	IPR004021. HIN200/IF120x. IPR012340. NA-bd_OB-fold. IPR004020. Pyrin. [Graphical view]
Gene3D	G3DSA:2.40.50.140. OB_NA_bd_sub. 2 hits.
Pfam	PF02760. HIN. 1 hit. PF02758. PAAD_DAPIN. 1 hit. [Graphical view]
PROSITE	PS50824. DAPIN. 1 hit. PS50834. HIN_200. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	86205.
SOURCE	Search...

Entry information

Entry name

IFIX_HUMAN

Accession

Primary (citable) accession number: Q6K0P9
Secondary accession number(s): Q5T3W6 , Q6K0P6, Q6K0P7, Q6K0P8, Q8WW65

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	July 5, 2004
Last modified:	January 25, 2012
This is version 64 of the entry and version 1 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.