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Protein

Uveal autoantigen with coiled-coil domains and ankyrin repeats

Gene

UACA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).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. May be involved in multiple neurite formation (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Uveal autoantigen with coiled-coil domains and ankyrin repeats
Gene namesi
Name:UACA
Synonyms:KIAA1561
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:15947. UACA.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytoskeleton Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: UniProtKB
  • mitochondrion Source: HPA
  • nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi55075.
OpenTargetsiENSG00000137831.
PharmGKBiPA38062.

Polymorphism and mutation databases

BioMutaiUACA.
DMDMi91207950.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002316501 – 1416Uveal autoantigen with coiled-coil domains and ankyrin repeatsAdd BLAST1416

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Cross-linki1035Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ9BZF9.
MaxQBiQ9BZF9.
PaxDbiQ9BZF9.
PeptideAtlasiQ9BZF9.
PRIDEiQ9BZF9.

PTM databases

iPTMnetiQ9BZF9.
PhosphoSitePlusiQ9BZF9.

Expressioni

Tissue specificityi

Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed in choroid, retina and epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells.2 Publications

Inductioni

Up-regulated after TSH stimulation.1 Publication

Gene expression databases

BgeeiENSG00000137831.
CleanExiHS_UACA.
ExpressionAtlasiQ9BZF9. baseline and differential.
GenevisibleiQ9BZF9. HS.

Organism-specific databases

HPAiHPA041412.

Interactioni

Subunit structurei

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. Interacts with RAB39A (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
KRT40Q6A1623EBI-350510,EBI-10171697

Protein-protein interaction databases

BioGridi120392. 37 interactors.
DIPiDIP-33117N.
IntActiQ9BZF9. 22 interactors.
MINTiMINT-1159571.
STRINGi9606.ENSP00000314556.

Structurei

3D structure databases

ProteinModelPortaliQ9BZF9.
SMRiQ9BZF9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati38 – 66ANK 1Add BLAST29
Repeati67 – 96ANK 2Add BLAST30
Repeati100 – 129ANK 3Add BLAST30
Repeati133 – 162ANK 4Add BLAST30
Repeati166 – 195ANK 5Add BLAST30
Repeati199 – 228ANK 6Add BLAST30

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili286 – 374Sequence analysisAdd BLAST89
Coiled coili438 – 1386Sequence analysisAdd BLAST949

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi21 – 29Poly-Ala9

Sequence similaritiesi

Contains 6 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IJC6. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00530000063369.
HOGENOMiHOG000147885.
HOVERGENiHBG066395.
InParanoidiQ9BZF9.
OMAiCYEKEQQ.
OrthoDBiEOG091G025R.
PhylomeDBiQ9BZF9.
TreeFamiTF331274.

Family and domain databases

Gene3Di1.25.40.20. 2 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000727. T_SNARE_dom.
IPR030227. UACA.
[Graphical view]
PANTHERiPTHR24173:SF23. PTHR24173:SF23. 2 hits.
PfamiPF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 5 hits.
PS50192. T_SNARE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BZF9-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MKSLKSRLRR QDVPGPASSG AAAASAHAAD WNKYDDRLMK AAERGDVEKV
60 70 80 90 100
TSILAKKGVN PGKLDVEGRS VFHVVTSKGN LECLNAILIH GVDITTSDTA
110 120 130 140 150
GRNALHLAAK YGHALCLQKL LQYNCPTEHA DLQGRTALHD AAMADCPSSI
160 170 180 190 200
QLLCDHGASV NAKDVDGRTP LVLATQMSRP TICQLLIDRG ADVNSRDKQN
210 220 230 240 250
RTALMLGCEY GCRDAVEVLI KNGADISLLD ALGHDSSYYA RIGDNLDILT
260 270 280 290 300
LLKTASENTN KGRELWKKGP SLQQRNLTHM QDEVNVKSHQ REHQNIQDLE
310 320 330 340 350
IENEDLKERL RKIQQEQRIL LDKVNGLQLQ LNEEVMVADD LESEREKLKS
360 370 380 390 400
LLAAKEKQHE ESLRTIEALK NRFKYFESDH LGSGSHFSNR KEDMLLKQGQ
410 420 430 440 450
MYMADSQCTS PGIPAHMQSR SMLRPLELSL PSQTSYSENE ILKKELEAMR
460 470 480 490 500
TFCESAKQDR LKLQNELAHK VAECKALALE CERVKEDSDE QIKQLEDALK
510 520 530 540 550
DVQKRMYESE GKVKQMQTHF LALKEHLTSE AASGNHRLTE ELKDQLKDLK
560 570 580 590 600
VKYEGASAEV GKLRNQIKQN EMIVEEFKRD EGKLIEENKR LQKELSMCEM
610 620 630 640 650
EREKKGRKVT EMEGQAKELS AKLALSIPAE KFENMKSSLS NEVNEKAKKL
660 670 680 690 700
VEMEREHEKS LSEIRQLKRE LENVKAKLAQ HVKPEEHEQV KSRLEQKSGE
710 720 730 740 750
LGKKITELTL KNQTLQKEIE KVYLDNKLLK EQAHNLTIEM KNHYVPLKVS
760 770 780 790 800
EDMKKSHDAI IDDLNRKLLD VTQKYTEKKL EMEKLLLEND SLSKDVSRLE
810 820 830 840 850
TVFVPPEKHE KEIIALKSNI VELKKQLSEL KKKCGEDQEK IHALTSENTN
860 870 880 890 900
LKKMMSNQYV PVKTHEEVKM TLNDTLAKTN RELLDVKKKF EDINQEFVKI
910 920 930 940 950
KDKNEILKRN LENTQNQIKA EYISLAEHEA KMSSLSQSMR KVQDSNAEIL
960 970 980 990 1000
ANYRKGQEEI VTLHAEIKAQ KKELDTIQEC IKVKYAPIVS FEECERKFKA
1010 1020 1030 1040 1050
TEKELKDQLS EQTQKYSVSE EEVKKNKQEN DKLKKEIFTL QKDLRDKTVL
1060 1070 1080 1090 1100
IEKSHEMERA LSRKTDELNK QLKDLSQKYT EVKNVKEKLV EENAKQTSEI
1110 1120 1130 1140 1150
LAVQNLLQKQ HVPLEQVEAL KKSLNGTIEN LKEELKSMQR CYEKEQQTVT
1160 1170 1180 1190 1200
KLHQLLENQK NSSVPLAEHL QIKEAFEKEV GIIKASLREK EEESQNKMEE
1210 1220 1230 1240 1250
VSKLQSEVQN TKQALKKLET REVVDLSKYK ATKSDLETQI SSLNEKLANL
1260 1270 1280 1290 1300
NRKYEEVCEE VLHAKKKEIS AKDEKELLHF SIEQEIKDQK ERCDKSLTTI
1310 1320 1330 1340 1350
TELQRRIQES AKQIEAKDNK ITELLNDVER LKQALNGLSQ LTYTSGNPTK
1360 1370 1380 1390 1400
RQSQLIDTLQ HQVKSLEQQL ADADRQHQEV IAIYRTHLLS AAQGHMDEDV
1410
QEALLQIIQM RQGLVC
Length:1,416
Mass (Da):162,505
Last modified:April 4, 2006 - v2
Checksum:i92C1104445FB0009
GO
Isoform 2 (identifier: Q9BZF9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MKSLKSRLRRQDVPGPASSGAAAASA → MMNCWFSCTPKNR

Note: No experimental confirmation available.
Show »
Length:1,403
Mass (Da):161,510
Checksum:i274D35E367DE3B75
GO

Sequence cautioni

The sequence BAA91457 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti139 – 141HDA → QKK in AAG49577 (PubMed:11162650).Curated3
Sequence conflicti166D → K in AAG49577 (PubMed:11162650).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048313814I → T.Corresponds to variant rs3743315dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0471991 – 26MKSLK…AAASA → MMNCWFSCTPKNR in isoform 2. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10235.1. [Q9BZF9-1]
CCDS32280.1. [Q9BZF9-2]
RefSeqiNP_001008225.1. NM_001008224.1. [Q9BZF9-2]
NP_060473.2. NM_018003.2. [Q9BZF9-1]
UniGeneiHs.108049.

Genome annotation databases

EnsembliENST00000322954; ENSP00000314556; ENSG00000137831. [Q9BZF9-1]
ENST00000379983; ENSP00000369319; ENSG00000137831. [Q9BZF9-2]
GeneIDi55075.
KEGGihsa:55075.
UCSCiuc002asq.4. human. [Q9BZF9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10235.1. [Q9BZF9-1]
CCDS32280.1. [Q9BZF9-2]
RefSeqiNP_001008225.1. NM_001008224.1. [Q9BZF9-2]
NP_060473.2. NM_018003.2. [Q9BZF9-1]
UniGeneiHs.108049.

3D structure databases

ProteinModelPortaliQ9BZF9.
SMRiQ9BZF9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120392. 37 interactors.
DIPiDIP-33117N.
IntActiQ9BZF9. 22 interactors.
MINTiMINT-1159571.
STRINGi9606.ENSP00000314556.

PTM databases

iPTMnetiQ9BZF9.
PhosphoSitePlusiQ9BZF9.

Polymorphism and mutation databases

BioMutaiUACA.
DMDMi91207950.

Proteomic databases

EPDiQ9BZF9.
MaxQBiQ9BZF9.
PaxDbiQ9BZF9.
PeptideAtlasiQ9BZF9.
PRIDEiQ9BZF9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322954; ENSP00000314556; ENSG00000137831. [Q9BZF9-1]
ENST00000379983; ENSP00000369319; ENSG00000137831. [Q9BZF9-2]
GeneIDi55075.
KEGGihsa:55075.
UCSCiuc002asq.4. human. [Q9BZF9-1]

Organism-specific databases

CTDi55075.
DisGeNETi55075.
GeneCardsiUACA.
HGNCiHGNC:15947. UACA.
HPAiHPA041412.
MIMi612516. gene.
neXtProtiNX_Q9BZF9.
OpenTargetsiENSG00000137831.
PharmGKBiPA38062.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJC6. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00530000063369.
HOGENOMiHOG000147885.
HOVERGENiHBG066395.
InParanoidiQ9BZF9.
OMAiCYEKEQQ.
OrthoDBiEOG091G025R.
PhylomeDBiQ9BZF9.
TreeFamiTF331274.

Miscellaneous databases

ChiTaRSiUACA. human.
GeneWikiiUACA.
GenomeRNAii55075.
PROiQ9BZF9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137831.
CleanExiHS_UACA.
ExpressionAtlasiQ9BZF9. baseline and differential.
GenevisibleiQ9BZF9. HS.

Family and domain databases

Gene3Di1.25.40.20. 2 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000727. T_SNARE_dom.
IPR030227. UACA.
[Graphical view]
PANTHERiPTHR24173:SF23. PTHR24173:SF23. 2 hits.
PfamiPF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 5 hits.
PS50192. T_SNARE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiUACA_HUMAN
AccessioniPrimary (citable) accession number: Q9BZF9
Secondary accession number(s): G3XAG2
, Q14DD3, Q8N3B8, Q96NH6, Q9HCL1, Q9NWC6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 4, 2006
Last modified: November 30, 2016
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Miscellaneous

UACA is a possible target autoantigen in Vogt-Koyanagi-Harada (VKH), Behcet disease (BD) and sarcoidosis that cause different types of panuevitis.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.