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Q9BZF9 (UACA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Uveal autoantigen with coiled-coil domains and ankyrin repeats
Gene names
Name:UACA
Synonyms:KIAA1561
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1416 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Cytoplasmcytoskeleton. Note: Expressed diffusely in cytoplasm. Ref.9

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.9

Induction

Up-regulated after TSH stimulation. Ref.9

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 componentCytoplasm
Cytoskeleton
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainANK repeat
Coiled coil
Repeat
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processintrinsic apoptotic signaling pathway in response to DNA damage

Inferred from electronic annotation. Source: Ensembl

intrinsic apoptotic signaling pathway in response to oxidative stress

Inferred from electronic annotation. Source: Ensembl

negative regulation of NF-kappaB import into nucleus

Inferred from electronic annotation. Source: Ensembl

negative regulation of inflammatory response

Inferred from electronic annotation. Source: Ensembl

positive regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein import into nucleus

Inferred from electronic annotation. Source: Ensembl

response to UV

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentapoptosome

Inferred from electronic annotation. Source: Ensembl

cytoplasm

Inferred from direct assay. Source: HPA

cytoskeleton

Inferred from electronic annotation. Source: UniProtKB-SubCell

extracellular region

Non-traceable author statement Ref.1. Source: UniProtKB

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

membrane

Inferred from electronic annotation. Source: Ensembl

mitochondrion

Inferred from direct assay. Source: HPA

nuclear envelope

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from direct assay. Source: HPA

perinuclear region of cytoplasm

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 17003112. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BZF9-1)

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 2 (identifier: Q9BZF9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MKSLKSRLRRQDVPGPASSGAAAASA → MMNCWFSCTPKNR
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14161416Uveal autoantigen with coiled-coil domains and ankyrin repeats
PRO_0000231650

Regions

Repeat38 – 6629ANK 1
Repeat67 – 9630ANK 2
Repeat100 – 12930ANK 3
Repeat133 – 16230ANK 4
Repeat166 – 19530ANK 5
Repeat199 – 22830ANK 6
Coiled coil286 – 37489 Potential
Coiled coil438 – 1386949 Potential
Compositional bias21 – 299Poly-Ala

Amino acid modifications

Modified residue11N-acetylmethionine Ref.11

Natural variations

Alternative sequence1 – 2626MKSLK…AAASA → MMNCWFSCTPKNR in isoform 2.
VSP_047199
Natural variant8141I → T.
Corresponds to variant rs3743315 [ dbSNP | Ensembl ].
VAR_048313

Experimental info

Sequence conflict139 – 1413HDA → QKK in AAG49577. Ref.1
Sequence conflict1661D → K in AAG49577. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 4, 2006. Version 2.
Checksum: 92C1104445FB0009

FASTA1,416162,505
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 274D35E367DE3B75
Show »

FASTA1,403161,510

References

« Hide '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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[4]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton 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. expand/collapse author list , 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[7]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 646-1187 (ISOFORM 1/2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-634 (ISOFORM 2).
Tissue: Brain and Embryo.
[8]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1181-1416 (ISOFORM 1/2).
Tissue: Brain.
[9]"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] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INDUCTION.
[10]"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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, 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.
AC009269 Genomic DNA. No translation available.
AC087699 Genomic DNA. No translation available.
CH471082 Genomic DNA. Translation: EAW77855.1.
BC113407 mRNA. Translation: AAI13408.1.
BC113409 mRNA. Translation: AAI13410.1.
AK000990 mRNA. Translation: BAA91457.1. Different initiation.
AK055435 mRNA. Translation: BAB70922.1.
AL834464 mRNA. Translation: CAD39123.1.
CCDSCCDS10235.1. [Q9BZF9-1]
CCDS32280.1. [Q9BZF9-2]
RefSeqNP_001008225.1. NM_001008224.1. [Q9BZF9-2]
NP_060473.2. NM_018003.2. [Q9BZF9-1]
UniGeneHs.108049.

3D structure databases

ProteinModelPortalQ9BZF9.
SMRQ9BZF9. Positions 37-313.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120392. 12 interactions.
IntActQ9BZF9. 6 interactions.
MINTMINT-1159571.
STRING9606.ENSP00000314556.

PTM databases

PhosphoSiteQ9BZF9.

Polymorphism databases

DMDM91207950.

Proteomic databases

MaxQBQ9BZF9.
PaxDbQ9BZF9.
PRIDEQ9BZF9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000322954; ENSP00000314556; ENSG00000137831. [Q9BZF9-1]
ENST00000379983; ENSP00000369319; ENSG00000137831. [Q9BZF9-2]
GeneID55075.
KEGGhsa:55075.
UCSCuc002asq.3. human.
uc002asr.3. human. [Q9BZF9-1]

Organism-specific databases

CTD55075.
GeneCardsGC15M070946.
HGNCHGNC:15947. UACA.
HPAHPA041412.
MIM612516. gene.
neXtProtNX_Q9BZF9.
PharmGKBPA38062.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0666.
HOGENOMHOG000147885.
HOVERGENHBG066395.
InParanoidQ9BZF9.
OMALKQGQMY.
OrthoDBEOG7X9G6C.
PhylomeDBQ9BZF9.
TreeFamTF331274.

Gene expression databases

ArrayExpressQ9BZF9.
BgeeQ9BZF9.
CleanExHS_UACA.
GenevestigatorQ9BZF9.

Family and domain databases

Gene3D1.25.40.20. 2 hits.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000727. T_SNARE_dom.
[Graphical view]
PfamPF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSPR01415. ANKYRIN.
SMARTSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 5 hits.
PS50192. T_SNARE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSUACA. human.
GeneWikiUACA.
GenomeRNAi55075.
NextBio58608.
PROQ9BZF9.
SOURCESearch...

Entry information

Entry nameUACA_HUMAN
AccessionPrimary (citable) accession number: Q9BZF9
Secondary accession number(s): G3XAG2 expand/collapse secondary AC list , Q14DD3, Q8N3B8, Q96NH6, Q9HCL1, Q9NWC6
Entry history
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 4, 2006
Last modified: July 9, 2014
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM