O14862 (AIM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Interferon-inducible protein AIM2

Alternative name(s):
Absent in melanoma 2

Gene names

Name:

AIM2

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

General annotation (Comments)

Function	Tumor suppressor which may act by repressing NF-kappa-B transcriptional activity. Ref.6 Ref.7
Subunit structure	Homodimer. Ref.5
Subcellular location	Nucleus Ref.5.
Tissue specificity	Expressed in spleen, small intestine, peripheral blood leukocytes, and testis. Ref.1
Induction	By IFNG/IFN-gamma. Ref.1 Ref.5
Miscellaneous	Defects in AIM2 may be a cause of microsatellite unstable colon cancers.
Sequence similarities	Belongs to the HIN-200 family. Contains 1 DAPIN domain. Contains 1 HIN-200 domain.
Sequence caution	The sequence AAH10940.1 differs from that shown. Reason: Frameshift at position 340.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Tumor suppressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	activation of innate immune response Traceable author statement. Source: Reactome cellular response to drug Inferred from direct assay. Source: MGI innate immune response Traceable author statement. Source: Reactome interleukin-1 beta secretion Inferred from mutant phenotype. Source: MGI
Cellular component	cytosol Traceable author statement. Source: Reactome mitochondrion Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 343	343	Interferon-inducible protein AIM2		PRO_0000153726
Regions
	Domain	1 – 87	87	DAPIN
	Domain	138 – 337	200	HIN-200
	Compositional bias	206 – 209	4	Poly-Ile
Natural variations
	Natural variant	32	1	E → K. Ref.7 Corresponds to variant rs2276405 [ dbSNP | Ensembl ].		VAR_022022
	Natural variant	304	1	C → Y. Ref.7		VAR_043379
Experimental info
	Sequence conflict	253	1	N → D in BAF84731. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	O14862 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 92EC418AB28CE1E6	FASTA	343	38,954
	10 20 30 40 50 60 MESKYKEILL LTGLDNITDE ELDRFKFFLS DEFNIATGKL HTANRIQVAT LMIQNAGAVS 70 80 90 100 110 120 AVMKTIRIFQ KLNYMLLAKR LQEEKEKVDK QYKSVTKPKP LSQAEMSPAA SAAIRNDVAK 130 140 150 160 170 180 QRAAPKVSPH VKPEQKQMVA QQESIREGFQ KRCLPVMVLK AKKPFTFETQ EGKQEMFHAT 190 200 210 220 230 240 VATEKEFFFV KVFNTLLKDK FIPKRIIIIA RYYRHSGFLE VNSASRVLDA ESDQKVNVPL 250 260 270 280 290 300 NIIRKAGETP KINTLQTQPL GTIVNGLFVV QKVTEKKKNI LFDLSDNTGK MEVLGVRNED 310 320 330 340 TMKCKEGDKV RLTFFTLSKN GEKLQLTSGV HSTIKVIKAK KKT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning a novel member of the human interferon-inducible gene family associated with control of tumorigenicity in a model of human melanoma." DeYoung K.L., Ray M.E., Su Y.A., Anzick S.L., Johnstone R.W., Trapani J.A., Meltzer P.S., Trent J.M. Oncogene 15:453-457(1997) [PubMed: 9242382] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, INDUCTION BY IFNG.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Spleen.
[3]	"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].
[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]. Tissue: Brain.
[5]	"Biochemical and growth regulatory activities of the HIN-200 family member and putative tumor suppressor protein, AIM2." Cresswell K.S., Clarke C.J.P., Jackson J.T., Darcy P.K., Trapani J.A., Johnstone R.W. Biochem. Biophys. Res. Commun. 326:417-424(2005) [PubMed: 15582594] [Abstract] Cited for: SUBCELLULAR LOCATION, INDUCTION BY IFNG, SUBUNIT.
[6]	"AIM2 suppresses human breast cancer cell proliferation in vitro and mammary tumor growth in a mouse model." Chen I.-F., Ou-Yang F., Hung J.-Y., Liu J.-C., Wang H., Wang S.-C., Hou M.-F., Hortobagyi G.N., Hung M.-C. Mol. Cancer Ther. 5:1-7(2006) [PubMed: 16432157] [Abstract] Cited for: FUNCTION.
[7]	"The putative tumor suppressor AIM2 is frequently affected by different genetic alterations in microsatellite unstable colon cancers." Woerner S.M., Kloor M., Schwitalle Y., Youmans H., Doeberitz M.K., Gebert J., Dihlmann S. Genes Chromosomes Cancer 46:1080-1089(2007) [PubMed: 17726700] [Abstract] Cited for: ROLE IN COLON CANCER, VARIANTS LYS-32 AND TYR-304.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF024714 mRNA. Translation: AAB81613.1. AK292042 mRNA. Translation: BAF84731.1. AL359753 Genomic DNA. Translation: CAI15088.1. BC010940 mRNA. Translation: AAH10940.1. Frameshift.
IPI	IPI00844168.
RefSeq	NP_004824.1. NM_004833.1.
UniGene	Hs.281898.
3D structure databases
ProteinModelPortal	O14862.
SMR	O14862. Positions 1-92, 152-337.
ModBase	Search...
Protein-protein interaction databases
STRING	O14862.
Proteomic databases
PRIDE	O14862.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000368130; ENSP00000357112; ENSG00000163568.
GeneID	9447.
KEGG	hsa:9447.
UCSC	uc001ftj.1. human.
Organism-specific databases
CTD	9447.
GeneCards	GC01M159032.
H-InvDB	HIX0001195.
HGNC	HGNC:357. AIM2.
HPA	HPA031365.
MIM	604578. gene.
neXtProt	NX_O14862.
PharmGKB	PA24651.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06741.
HOGENOM	HBG283725.
HOVERGEN	HBG006122.
OMA	KEFFFVK.
OrthoDB	EOG4VQ9PK.
PhylomeDB	O14862.
Enzyme and pathway databases
Reactome	REACT_6900. Immune System.
Gene expression databases
ArrayExpress	O14862.
Bgee	O14862.
CleanEx	HS_AIM2.
Genevestigator	O14862.
GermOnline	ENSG00000163568. Homo sapiens.
Family and domain databases
InterPro	IPR011029. DEATH-like. IPR004021. HIN200/IF120x. IPR012340. NA-bd_OB-fold. IPR004020. Pyrin. [Graphical view]
Gene3D	G3DSA:1.10.533.10. DEATH_like. 1 hit. G3DSA:2.40.50.140. OB_NA_bd_sub. 2 hits.
KO	K12966.
Pfam	PF02760. HIN. 1 hit. PF02758. PAAD_DAPIN. 1 hit. [Graphical view]
SUPFAM	SSF47986. DEATH_like. 1 hit.
PROSITE	PS50824. DAPIN. 1 hit. PS50834. HIN_200. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	35388.
SOURCE	Search...

Entry information

Entry name

AIM2_HUMAN

Accession

Primary (citable) accession number: O14862
Secondary accession number(s): A8K7M7, Q5T3V9, Q96FG9

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	January 1, 1998
Last modified:	January 25, 2012
This is version 83 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.