UniProtKB - Q9BZF9 (UACA_HUMAN)
Protein
Uveal autoantigen with coiled-coil domains and ankyrin repeats
Gene
UACA
Organism
Homo sapiens (Human)
Status
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
- apoptotic signaling pathway Source: InterPro
- negative regulation of NIK/NF-kappaB signaling Source: GO_Central
- positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q9BZF9 |
Reactomei | R-HSA-9627069, Regulation of the apoptosome activity |
Names & Taxonomyi
Protein namesi | Recommended name: Uveal autoantigen with coiled-coil domains and ankyrin repeats |
Gene namesi | Name:UACA Synonyms:KIAA1561 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000137831.14 |
HGNCi | HGNC:15947, UACA |
MIMi | 612516, gene |
neXtProti | NX_Q9BZF9 |
Subcellular locationi
Cytoskeleton
- cytoskeleton 1 Publication
Nucleus
- Nucleus 1 Publication
Other locations
- Cytoplasm 1 Publication
Note: Expressed diffusely in cytoplasm.
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 55075 |
OpenTargetsi | ENSG00000137831 |
PharmGKBi | PA38062 |
Miscellaneous databases
Pharosi | Q9BZF9, Tbio |
Polymorphism and mutation databases
BioMutai | UACA |
DMDMi | 91207950 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000231650 | 1 – 1416 | Uveal autoantigen with coiled-coil domains and ankyrin repeatsAdd BLAST | 1416 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Cross-linki | 1035 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Ubl conjugationProteomic databases
EPDi | Q9BZF9 |
jPOSTi | Q9BZF9 |
MassIVEi | Q9BZF9 |
MaxQBi | Q9BZF9 |
PaxDbi | Q9BZF9 |
PeptideAtlasi | Q9BZF9 |
PRIDEi | Q9BZF9 |
ProteomicsDBi | 33739 77515 79836 [Q9BZF9-1] |
PTM databases
iPTMneti | Q9BZF9 |
PhosphoSitePlusi | Q9BZF9 |
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
Bgeei | ENSG00000137831, Expressed in calcaneal tendon and 227 other tissues |
ExpressionAtlasi | Q9BZF9, baseline and differential |
Genevisiblei | Q9BZF9, HS |
Organism-specific databases
HPAi | ENSG00000137831, Tissue enhanced (skeletal) |
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 similarityBinary interactionsi
Hide detailsQ9BZF9
Protein-protein interaction databases
BioGRIDi | 120392, 67 interactors |
DIPi | DIP-33117N |
IntActi | Q9BZF9, 62 interactors |
MINTi | Q9BZF9 |
STRINGi | 9606.ENSP00000314556 |
Miscellaneous databases
RNActi | Q9BZF9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 38 – 66 | ANK 1Add BLAST | 29 | |
Repeati | 67 – 96 | ANK 2Add BLAST | 30 | |
Repeati | 100 – 129 | ANK 3Add BLAST | 30 | |
Repeati | 133 – 162 | ANK 4Add BLAST | 30 | |
Repeati | 166 – 195 | ANK 5Add BLAST | 30 | |
Repeati | 199 – 228 | ANK 6Add BLAST | 30 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 286 – 374 | Sequence analysisAdd BLAST | 89 | |
Coiled coili | 438 – 1386 | Sequence analysisAdd BLAST | 949 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 21 – 29 | Poly-Ala | 9 |
Keywords - Domaini
ANK repeat, Coiled coil, RepeatPhylogenomic databases
eggNOGi | ENOG502QPYN, Eukaryota |
GeneTreei | ENSGT00940000157475 |
HOGENOMi | CLU_005323_1_0_1 |
InParanoidi | Q9BZF9 |
OMAi | IHGIDIT |
OrthoDBi | 876605at2759 |
PhylomeDBi | Q9BZF9 |
TreeFami | TF331274 |
Family and domain databases
Gene3Di | 1.25.40.20, 2 hits |
InterProi | View protein in InterPro IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf IPR000727, T_SNARE_dom IPR030227, UACA |
PANTHERi | PTHR24173:SF23, PTHR24173:SF23, 2 hits |
Pfami | View protein in Pfam PF12796, Ank_2, 2 hits |
PRINTSi | PR01415, ANKYRIN |
SMARTi | View protein in SMART SM00248, ANK, 6 hits |
SUPFAMi | SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 5 hits PS50192, T_SNARE, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H2B9 | F5H2B9_HUMAN | Uveal autoantigen with coiled-coil ... | UACA | 1,307 | Annotation score: | ||
H0YNH8 | H0YNH8_HUMAN | Uveal autoantigen with coiled-coil ... | UACA | 1,401 | Annotation score: | ||
H0YN48 | H0YN48_HUMAN | Uveal autoantigen with coiled-coil ... | UACA | 564 | Annotation score: | ||
H0YMI1 | H0YMI1_HUMAN | Uveal autoantigen with coiled-coil ... | UACA | 225 | Annotation score: |
Sequence cautioni
The sequence BAA91457 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 139 – 141 | HDA → QKK in AAG49577 (PubMed:11162650).Curated | 3 | |
Sequence conflicti | 166 | D → K in AAG49577 (PubMed:11162650).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048313 | 814 | I → T. Corresponds to variant dbSNP:rs3743315Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047199 | 1 – 26 | MKSLK…AAASA → MMNCWFSCTPKNR in isoform 2. 1 PublicationAdd BLAST | 26 |
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 |
CCDSi | CCDS10235.1 [Q9BZF9-1] CCDS32280.1 [Q9BZF9-2] |
RefSeqi | NP_001008225.1, NM_001008224.1 [Q9BZF9-2] NP_060473.2, NM_018003.2 [Q9BZF9-1] |
Genome annotation databases
Ensembli | ENST00000322954; ENSP00000314556; ENSG00000137831 [Q9BZF9-1] ENST00000379983; ENSP00000369319; ENSG00000137831 [Q9BZF9-2] |
GeneIDi | 55075 |
KEGGi | hsa:55075 |
UCSCi | uc002asq.4, human [Q9BZF9-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar 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 |
CCDSi | CCDS10235.1 [Q9BZF9-1] CCDS32280.1 [Q9BZF9-2] |
RefSeqi | NP_001008225.1, NM_001008224.1 [Q9BZF9-2] NP_060473.2, NM_018003.2 [Q9BZF9-1] |
3D structure databases
SMRi | Q9BZF9 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120392, 67 interactors |
DIPi | DIP-33117N |
IntActi | Q9BZF9, 62 interactors |
MINTi | Q9BZF9 |
STRINGi | 9606.ENSP00000314556 |
PTM databases
iPTMneti | Q9BZF9 |
PhosphoSitePlusi | Q9BZF9 |
Polymorphism and mutation databases
BioMutai | UACA |
DMDMi | 91207950 |
Proteomic databases
EPDi | Q9BZF9 |
jPOSTi | Q9BZF9 |
MassIVEi | Q9BZF9 |
MaxQBi | Q9BZF9 |
PaxDbi | Q9BZF9 |
PeptideAtlasi | Q9BZF9 |
PRIDEi | Q9BZF9 |
ProteomicsDBi | 33739 77515 79836 [Q9BZF9-1] |
Protocols and materials databases
Antibodypediai | 26467, 289 antibodies |
Genome annotation databases
Ensembli | ENST00000322954; ENSP00000314556; ENSG00000137831 [Q9BZF9-1] ENST00000379983; ENSP00000369319; ENSG00000137831 [Q9BZF9-2] |
GeneIDi | 55075 |
KEGGi | hsa:55075 |
UCSCi | uc002asq.4, human [Q9BZF9-1] |
Organism-specific databases
CTDi | 55075 |
DisGeNETi | 55075 |
EuPathDBi | HostDB:ENSG00000137831.14 |
GeneCardsi | UACA |
HGNCi | HGNC:15947, UACA |
HPAi | ENSG00000137831, Tissue enhanced (skeletal) |
MIMi | 612516, gene |
neXtProti | NX_Q9BZF9 |
OpenTargetsi | ENSG00000137831 |
PharmGKBi | PA38062 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPYN, Eukaryota |
GeneTreei | ENSGT00940000157475 |
HOGENOMi | CLU_005323_1_0_1 |
InParanoidi | Q9BZF9 |
OMAi | IHGIDIT |
OrthoDBi | 876605at2759 |
PhylomeDBi | Q9BZF9 |
TreeFami | TF331274 |
Enzyme and pathway databases
PathwayCommonsi | Q9BZF9 |
Reactomei | R-HSA-9627069, Regulation of the apoptosome activity |
Miscellaneous databases
BioGRID-ORCSi | 55075, 7 hits in 852 CRISPR screens |
ChiTaRSi | UACA, human |
GeneWikii | UACA |
GenomeRNAii | 55075 |
Pharosi | Q9BZF9, Tbio |
PROi | PR:Q9BZF9 |
RNActi | Q9BZF9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000137831, Expressed in calcaneal tendon and 227 other tissues |
ExpressionAtlasi | Q9BZF9, baseline and differential |
Genevisiblei | Q9BZF9, HS |
Family and domain databases
Gene3Di | 1.25.40.20, 2 hits |
InterProi | View protein in InterPro IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf IPR000727, T_SNARE_dom IPR030227, UACA |
PANTHERi | PTHR24173:SF23, PTHR24173:SF23, 2 hits |
Pfami | View protein in Pfam PF12796, Ank_2, 2 hits |
PRINTSi | PR01415, ANKYRIN |
SMARTi | View protein in SMART SM00248, ANK, 6 hits |
SUPFAMi | SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 5 hits PS50192, T_SNARE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | UACA_HUMAN | |
Accessioni | Q9BZF9Primary (citable) accession number: Q9BZF9 Secondary accession number(s): G3XAG2 Q9NWC6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 4, 2006 |
Last sequence update: | April 4, 2006 | |
Last modified: | December 2, 2020 | |
This is version 161 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations