Q9BZF9 (UACA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Uveal autoantigen with coiled-coil domains and ankyrin repeats

Gene names

Name:	UACA
Synonyms:	KIAA1561

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	1416 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression of LGALS3 by inhibiting NFKB1 By similarity. Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and motility. Interaction with ARF6 may modulate cell shape and motility after injury By similarity.
Subunit structure	Component of the apoptosome complex, composed of APAF1, pro-caspase-9 and UACA. In the complex, it probably interacts directly with APAF1. Interacts with LGALS3, ARF6 and ACTB By similarity.
Subcellular location	Nucleus. Cytoplasm. Cytoplasm › cytoskeleton. Note: Expressed diffusely in cytoplasm. Ref.8
Tissue specificity	Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed in choroid, retina and epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells. Ref.1 Ref.8
Induction	Up-regulated after TSH stimulation. Ref.8
Miscellaneous	UACA is a possible target autoantigen in Vogt-Koyanagi-Harada (VKH), Behcet disease (BD) and sarcoidosis that cause different types of panuevitis.
Sequence similarities	Contains 6 ANK repeats.
Sequence caution	The sequence BAA91457.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton Nucleus
Coding sequence diversity	Polymorphism
Domain	ANK repeat Coiled coil Repeat
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell extracellular region Non-traceable author statement Ref.1. Source: UniProtKB mitochondrion 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 – 1416	1416	Uveal autoantigen with coiled-coil domains and ankyrin repeats		PRO_0000231650
Regions
	Repeat	38 – 66	29	ANK 1
	Repeat	67 – 96	30	ANK 2
	Repeat	100 – 129	30	ANK 3
	Repeat	133 – 162	30	ANK 4
	Repeat	166 – 195	30	ANK 5
	Repeat	199 – 228	30	ANK 6
	Coiled coil	286 – 374	89	Potential
	Coiled coil	438 – 1386	949	Potential
	Compositional bias	21 – 29	9	Poly-Ala
Amino acid modifications
	Modified residue	562	1	N6-acetyllysine Ref.10
	Modified residue	723	1	Phosphotyrosine Ref.9
	Modified residue	1065	1	Phosphothreonine Ref.7
Natural variations
	Natural variant	814	1	I → T. Corresponds to variant rs3743315 [ dbSNP | Ensembl ].		VAR_048313
Experimental info
	Sequence conflict	139 – 141	3	HDA → QKK in AAG49577. Ref.1
	Sequence conflict	166	1	D → K in AAG49577. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9BZF9 [UniParc]. Last modified April 4, 2006. Version 2. Checksum: 92C1104445FB0009	FASTA	1,416	162,505
	10 20 30 40 50 60 MKSLKSRLRR QDVPGPASSG AAAASAHAAD WNKYDDRLMK AAERGDVEKV TSILAKKGVN 70 80 90 100 110 120 PGKLDVEGRS VFHVVTSKGN LECLNAILIH GVDITTSDTA GRNALHLAAK YGHALCLQKL 130 140 150 160 170 180 LQYNCPTEHA DLQGRTALHD AAMADCPSSI QLLCDHGASV NAKDVDGRTP LVLATQMSRP 190 200 210 220 230 240 TICQLLIDRG ADVNSRDKQN RTALMLGCEY GCRDAVEVLI KNGADISLLD ALGHDSSYYA 250 260 270 280 290 300 RIGDNLDILT LLKTASENTN KGRELWKKGP SLQQRNLTHM QDEVNVKSHQ REHQNIQDLE 310 320 330 340 350 360 IENEDLKERL RKIQQEQRIL LDKVNGLQLQ LNEEVMVADD LESEREKLKS LLAAKEKQHE 370 380 390 400 410 420 ESLRTIEALK NRFKYFESDH LGSGSHFSNR KEDMLLKQGQ MYMADSQCTS PGIPAHMQSR 430 440 450 460 470 480 SMLRPLELSL PSQTSYSENE ILKKELEAMR TFCESAKQDR LKLQNELAHK VAECKALALE 490 500 510 520 530 540 CERVKEDSDE QIKQLEDALK DVQKRMYESE GKVKQMQTHF LALKEHLTSE AASGNHRLTE 550 560 570 580 590 600 ELKDQLKDLK VKYEGASAEV GKLRNQIKQN EMIVEEFKRD EGKLIEENKR LQKELSMCEM 610 620 630 640 650 660 EREKKGRKVT EMEGQAKELS AKLALSIPAE KFENMKSSLS NEVNEKAKKL VEMEREHEKS 670 680 690 700 710 720 LSEIRQLKRE LENVKAKLAQ HVKPEEHEQV KSRLEQKSGE LGKKITELTL KNQTLQKEIE 730 740 750 760 770 780 KVYLDNKLLK EQAHNLTIEM KNHYVPLKVS EDMKKSHDAI IDDLNRKLLD VTQKYTEKKL 790 800 810 820 830 840 EMEKLLLEND SLSKDVSRLE TVFVPPEKHE KEIIALKSNI VELKKQLSEL KKKCGEDQEK 850 860 870 880 890 900 IHALTSENTN LKKMMSNQYV PVKTHEEVKM TLNDTLAKTN RELLDVKKKF EDINQEFVKI 910 920 930 940 950 960 KDKNEILKRN LENTQNQIKA EYISLAEHEA KMSSLSQSMR KVQDSNAEIL ANYRKGQEEI 970 980 990 1000 1010 1020 VTLHAEIKAQ KKELDTIQEC IKVKYAPIVS FEECERKFKA TEKELKDQLS EQTQKYSVSE 1030 1040 1050 1060 1070 1080 EEVKKNKQEN DKLKKEIFTL QKDLRDKTVL IEKSHEMERA LSRKTDELNK QLKDLSQKYT 1090 1100 1110 1120 1130 1140 EVKNVKEKLV EENAKQTSEI LAVQNLLQKQ HVPLEQVEAL KKSLNGTIEN LKEELKSMQR 1150 1160 1170 1180 1190 1200 CYEKEQQTVT KLHQLLENQK NSSVPLAEHL QIKEAFEKEV GIIKASLREK EEESQNKMEE 1210 1220 1230 1240 1250 1260 VSKLQSEVQN TKQALKKLET REVVDLSKYK ATKSDLETQI SSLNEKLANL NRKYEEVCEE 1270 1280 1290 1300 1310 1320 VLHAKKKEIS AKDEKELLHF SIEQEIKDQK ERCDKSLTTI TELQRRIQES AKQIEAKDNK 1330 1340 1350 1360 1370 1380 ITELLNDVER LKQALNGLSQ LTYTSGNPTK RQSQLIDTLQ HQVKSLEQQL ADADRQHQEV 1390 1400 1410 IAIYRTHLLS AAQGHMDEDV QEALLQIIQM RQGLVC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel autoantigen UACA in patients with panuveitis." Yamada K., Senju S., Nakatsura T., Murata Y., Ishihara M., Nakamura S., Ohno S., Negi A., Nishimura Y. Biochem. Biophys. Res. Commun. 280:1169-1176(2001) [PubMed: 11162650] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]	"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed: 10997877] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[3]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION.
[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]	"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] OF 646-1187. Tissue: Brain and Embryo.
[6]	"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 1181-1416. Tissue: Brain.
[7]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1065, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease." Ohkura T., Taniguchi S., Yamada K., Nishio N., Okamura T., Yoshida A., Kamijou K., Fukata S., Kuma K., Inoue Y., Hisatome I., Senju S., Nishimura Y., Shigemasa C. Biochem. Biophys. Res. Commun. 321:432-440(2004) [PubMed: 15358194] [Abstract] Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INDUCTION.
[9]	"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer." Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. , Yuan J., Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J. Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-723, MASS SPECTROMETRY. Tissue: Lung carcinoma.
[10]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-562, MASS SPECTROMETRY.
[11]	"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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF322916 mRNA. Translation: AAG49577.1. AB046781 mRNA. Translation: BAB13387.2. BC113407 mRNA. Translation: AAI13408.1. BC113409 mRNA. Translation: AAI13410.1. AK000990 mRNA. Translation: BAA91457.1. Different initiation. AL834464 mRNA. Translation: CAD39123.1.
IPI	IPI00173359.
RefSeq	NP_001008225.1. NM_001008224.1. NP_060473.2. NM_018003.2.
UniGene	Hs.108049.
3D structure databases
ProteinModelPortal	Q9BZF9.
SMR	Q9BZF9. Positions 35-255.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BZF9. 3 interactions.
MINT	MINT-1159571.
STRING	Q9BZF9.
PTM databases
PhosphoSite	Q9BZF9.
Polymorphism databases
DMDM	91207950.
Proteomic databases
PRIDE	Q9BZF9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000322954; ENSP00000314556; ENSG00000137831.
GeneID	55075.
KEGG	hsa:55075.
UCSC	uc002asq.1. human.
Organism-specific databases
CTD	55075.
GeneCards	GC15M070946.
H-InvDB	HIX0012395.
HGNC	HGNC:15947. UACA.
HPA	HPA041412.
MIM	612516. gene.
neXtProt	NX_Q9BZF9.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000063369.
HOGENOM	HBG446787.
HOVERGEN	HBG066395.
InParanoid	Q9BZF9.
OMA	NRKEDML.
OrthoDB	EOG42RD6F.
PhylomeDB	Q9BZF9.
Gene expression databases
ArrayExpress	Q9BZF9.
Bgee	Q9BZF9.
CleanEx	HS_UACA.
Genevestigator	Q9BZF9.
GermOnline	ENSG00000137831. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR000727. T_SNARE_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF12796. Ank_2. 2 hits. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 6 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 5 hits. PS50192. T_SNARE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	58608.
SOURCE	Search...

Entry information

Entry name

UACA_HUMAN

Accession

Primary (citable) accession number: Q9BZF9
Secondary accession number(s): Q14DD3 , Q8N3B8, Q9HCL1, Q9NWC6

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 4, 2006
Last sequence update:	April 4, 2006
Last modified:	January 25, 2012
This is version 83 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.