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UniProtKB - Q9BZF9 (UACA_HUMAN)

Protein

Uveal autoantigen with coiled-coil domains and ankyrin repeats

Gene

UACA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Miscellaneous

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

GO - Biological processi

View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000137831.14
HGNCiHGNC:15947 UACA
MIMi612516 gene
neXtProtiNX_Q9BZF9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi79836

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 Expressed in 212 organ(s), highest expression level in visceral pleura
CleanExiHS_UACA
ExpressionAtlasiQ9BZF9 baseline and differential
GenevisibleiQ9BZF9 HS

Organism-specific databases

HPAiHPA041412
HPA043503

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

Protein-protein interaction databases

BioGridi120392, 44 interactors
DIPiDIP-33117N
IntActiQ9BZF9, 33 interactors
MINTiQ9BZF9
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

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IJC6 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00530000063369
HOGENOMiHOG000147885
HOVERGENiHBG066395
InParanoidiQ9BZF9
OMAiMRQGLVC
OrthoDBiEOG091G025R
PhylomeDBiQ9BZF9
TreeFamiTF331274

Family and domain databases

CDDicd00204 ANK, 2 hits
Gene3Di1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR000727 T_SNARE_dom
IPR030227 UACA
PANTHERiPTHR24173:SF23 PTHR24173:SF23, 2 hits
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF13606 Ank_3, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 6 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 5 hits
PS50192 T_SNARE, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YNH8H0YNH8_HUMAN
Uveal autoantigen with coiled-coil ...
UACA
1,401Annotation score:
F5H2B9F5H2B9_HUMAN
Uveal autoantigen with coiled-coil ...
UACA
1,307Annotation score:
H0YN48H0YN48_HUMAN
Uveal autoantigen with coiled-coil ...
UACA
564Annotation score:
H0YMI1H0YMI1_HUMAN
Uveal autoantigen with coiled-coil ...
UACA
225Annotation score:

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 dbSNP:rs3743315Ensembl.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

Similar proteinsi

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, 44 interactors
DIPiDIP-33117N
IntActiQ9BZF9, 33 interactors
MINTiQ9BZF9
STRINGi9606.ENSP00000314556

PTM databases

iPTMnetiQ9BZF9
PhosphoSitePlusiQ9BZF9

Polymorphism and mutation databases

BioMutaiUACA
DMDMi91207950

Proteomic databases

EPDiQ9BZF9
MaxQBiQ9BZF9
PaxDbiQ9BZF9
PeptideAtlasiQ9BZF9
PRIDEiQ9BZF9
ProteomicsDBi79836

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
EuPathDBiHostDB:ENSG00000137831.14
GeneCardsiUACA
HGNCiHGNC:15947 UACA
HPAiHPA041412
HPA043503
MIMi612516 gene
neXtProtiNX_Q9BZF9
OpenTargetsiENSG00000137831
PharmGKBiPA38062
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJC6 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00530000063369
HOGENOMiHOG000147885
HOVERGENiHBG066395
InParanoidiQ9BZF9
OMAiMRQGLVC
OrthoDBiEOG091G025R
PhylomeDBiQ9BZF9
TreeFamiTF331274

Miscellaneous databases

ChiTaRSiUACA human
GeneWikiiUACA
GenomeRNAii55075
PROiPR:Q9BZF9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137831 Expressed in 212 organ(s), highest expression level in visceral pleura
CleanExiHS_UACA
ExpressionAtlasiQ9BZF9 baseline and differential
GenevisibleiQ9BZF9 HS

Family and domain databases

CDDicd00204 ANK, 2 hits
Gene3Di1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR000727 T_SNARE_dom
IPR030227 UACA
PANTHERiPTHR24173:SF23 PTHR24173:SF23, 2 hits
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF13606 Ank_3, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 6 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 5 hits
PS50192 T_SNARE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiUACA_HUMAN
AccessioniPrimary (citable) accession number: Q9BZF9
Secondary accession number(s): G3XAG2
, Q14DD3, Q8N3B8, Q96NH6, Q9HCL1, Q9NWC6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 4, 2006
Last modified: October 10, 2018
This is version 143 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  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
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