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UniProtKB - Q9BZF9 (UACA_HUMAN)

Entry version 161 (02 Dec 2020)
Sequence version 2 (04 Apr 2006)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BZF9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-9627069, Regulation of the apoptosome activity

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Uveal autoantigen with coiled-coil domains and ankyrin repeats
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:UACA
Synonyms:KIAA1561
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000137831.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:15947, UACA

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612516, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BZF9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		55075

Open Targets

More...OpenTargetsi		ENSG00000137831

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38062

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BZF9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		UACA

Domain mapping of disease mutations (DMDM)

More...DMDMi		91207950

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002316501 – 1416Uveal autoantigen with coiled-coil domains and ankyrin repeatsAdd BLAST1416

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki1035Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BZF9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BZF9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BZF9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BZF9

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BZF9

PeptideAtlas

More...PeptideAtlasi		Q9BZF9

PRoteomics IDEntifications database

More...PRIDEi		Q9BZF9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		33739
77515
79836 [Q9BZF9-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BZF9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BZF9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated after TSH stimulation.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000137831, Expressed in calcaneal tendon and 227 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BZF9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BZF9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000137831, Tissue enhanced (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120392, 67 interactors

Database of interacting proteins

More...DIPi		DIP-33117N

Protein interaction database and analysis system

More...IntActi		Q9BZF9, 62 interactors

Molecular INTeraction database

More...MINTi		Q9BZF9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000314556

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BZF9, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9BZF9

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili286 – 374Sequence analysisAdd BLAST89
Coiled coili438 – 1386Sequence analysisAdd BLAST949

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi21 – 29Poly-Ala9

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QPYN, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157475

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005323_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BZF9

Identification of Orthologs from Complete Genome Data

More...OMAi		IHGIDIT

Database of Orthologous Groups

More...OrthoDBi		876605at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BZF9

TreeFam database of animal gene trees

More...TreeFami		TF331274

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.20, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002110, Ankyrin_rpt
IPR020683, Ankyrin_rpt-contain_dom
IPR036770, Ankyrin_rpt-contain_sf
IPR000727, T_SNARE_dom
IPR030227, UACA

The PANTHER Classification System

More...PANTHERi		PTHR24173:SF23, PTHR24173:SF23, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12796, Ank_2, 2 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01415, ANKYRIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00248, ANK, 6 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48403, SSF48403, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50297, ANK_REP_REGION, 1 hit
PS50088, ANK_REPEAT, 5 hits
PS50192, T_SNARE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Show »
Length:1,403
Mass (Da):161,510
Checksum:i274D35E367DE3B75
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

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

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YNH8H0YNH8_HUMAN
Uveal autoantigen with coiled-coil ...
UACA
1,401Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YN48H0YN48_HUMAN
Uveal autoantigen with coiled-coil ...
UACA
564Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YMI1H0YMI1_HUMAN
Uveal autoantigen with coiled-coil ...
UACA
225Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti139 – 141HDA → QKK in AAG49577 (PubMed:11162650).Curated3
Sequence conflicti166D → K in AAG49577 (PubMed:11162650).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_048313814I → T. Corresponds to variant dbSNP:rs3743315Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0471991 – 26MKSLK…AAASA → MMNCWFSCTPKNR in isoform 2. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10235.1 [Q9BZF9-1]
CCDS32280.1 [Q9BZF9-2]

NCBI Reference Sequences

More...RefSeqi		NP_001008225.1, NM_001008224.1 [Q9BZF9-2]
NP_060473.2, NM_018003.2 [Q9BZF9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000322954; ENSP00000314556; ENSG00000137831 [Q9BZF9-1]
ENST00000379983; ENSP00000369319; ENSG00000137831 [Q9BZF9-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55075

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55075

UCSC genome browser

More...UCSCi		uc002asq.4, human [Q9BZF9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ9BZF9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120392, 67 interactors
DIPiDIP-33117N
IntActiQ9BZF9, 62 interactors
MINTiQ9BZF9
STRINGi9606.ENSP00000314556

PTM databases

iPTMnetiQ9BZF9
PhosphoSitePlusiQ9BZF9

Polymorphism and mutation databases

BioMutaiUACA
DMDMi91207950

Proteomic databases

EPDiQ9BZF9
jPOSTiQ9BZF9
MassIVEiQ9BZF9
MaxQBiQ9BZF9
PaxDbiQ9BZF9
PeptideAtlasiQ9BZF9
PRIDEiQ9BZF9
ProteomicsDBi33739
77515
79836 [Q9BZF9-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26467, 289 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55075
DisGeNETi55075
EuPathDBiHostDB:ENSG00000137831.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		UACA
HGNCiHGNC:15947, UACA
HPAiENSG00000137831, Tissue enhanced (skeletal)
MIMi612516, gene
neXtProtiNX_Q9BZF9
OpenTargetsiENSG00000137831
PharmGKBiPA38062

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QPYN, Eukaryota
GeneTreeiENSGT00940000157475
HOGENOMiCLU_005323_1_0_1
InParanoidiQ9BZF9
OMAiIHGIDIT
OrthoDBi876605at2759
PhylomeDBiQ9BZF9
TreeFamiTF331274

Enzyme and pathway databases

PathwayCommonsiQ9BZF9
ReactomeiR-HSA-9627069, Regulation of the apoptosome activity

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55075, 7 hits in 852 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		UACA, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		UACA

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55075
PharosiQ9BZF9, Tbio

Protein Ontology

More...PROi		PR:Q9BZF9
RNActiQ9BZF9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000137831, Expressed in calcaneal tendon and 227 other tissues
ExpressionAtlasiQ9BZF9, baseline and differential
GenevisibleiQ9BZF9, HS

Family and domain databases

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, 2 hits
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiUACA_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BZF9
Secondary accession number(s): G3XAG2
, Q14DD3, Q8N3B8, Q96NH6, Q9HCL1, Q9NWC6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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