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UniProtKB - O75112 (LDB3_HUMAN)

Protein

LIM domain-binding protein 3

Gene

LDB3

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

May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.Curated

<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 - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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>Keywordsi

LigandMetal-binding, Zinc

<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_and_taxonomy_section">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:
LIM domain-binding protein 3
Alternative name(s):
Protein cypher
Z-band alternatively spliced PDZ-motif protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:LDB3Imported
Synonyms:KIAA0613Imported, ZASPImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000122367.19

Human Gene Nomenclature Database

More...HGNCi		HGNC:15710 LDB3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605906 gene+phenotype

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75112

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction (CMD1C)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle.
See also OMIM:601493
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_024009189S → L in CMD1C. 1 PublicationCorresponds to variant dbSNP:rs45487699Ensembl.1
Natural variantiVAR_024010206T → I in CMD1C. 1 PublicationCorresponds to variant dbSNP:rs121908337EnsemblClinVar.1
Natural variantiVAR_024011345I → M in CMD1C. 1 PublicationCorresponds to variant dbSNP:rs121908336EnsemblClinVar.1
Natural variantiVAR_024013673D → N in CMD1C. 1 PublicationCorresponds to variant dbSNP:rs45514002EnsemblClinVar.1
Left ventricular non-compaction 3 (LVNC3)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC3 is an autosomal dominant condition.
See also OMIM:601493
Myopathy, myofibrillar, 4 (MFM4)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM4 is characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy.
See also OMIM:609452
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 21 Publication (identifier: O75112-2)
Natural varianti147A → T in MFM4. 1
Natural varianti165A → V in MFM4. 1
Isoform 61 Publication (identifier: O75112-6)
Natural varianti147A → T in MFM4. Curated1 Publication1
Natural varianti165A → V in MFM4. Curated1 Publication1
Natural varianti268R → C in MFM4. Curated1 Publication1
Isoform 41 Publication (identifier: O75112-4)
Natural varianti262A → T in MFM4. 1
Natural varianti280A → V in MFM4. 1
Natural varianti383R → C in MFM4. 1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Myofibrillar myopathy

Organism-specific databases

DisGeNET

More...DisGeNETi		11155

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		LDB3

MalaCards human disease database

More...MalaCardsi		LDB3
MIMi601493 phenotype
605906 gene+phenotype
609452 phenotype

Open Targets

More...OpenTargetsi		ENSG00000122367

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
154 Familial isolated dilated cardiomyopathy
98912 Late-onset distal myopathy, Markesbery-Griggs type
54260 Left ventricular noncompaction
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30318

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LDB3

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000757671 – 727LIM domain-binding protein 3Add BLAST727

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 residuei44PhosphoserineBy similarity1
Modified residuei121PhosphoserineBy similarity1
Modified residuei123PhosphoserineBy similarity1
Modified residuei217PhosphoserineBy similarity1
Modified residuei219Omega-N-methylarginineBy similarity1
Modified residuei223PhosphoserineBy similarity1
Modified residuei516Omega-N-methylarginineBy similarity1
Modified residuei533Omega-N-methylarginineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75112

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75112

PeptideAtlas

More...PeptideAtlasi		O75112

PRoteomics IDEntifications database

More...PRIDEi		O75112

ProteomicsDB human proteome resource

More...ProteomicsDBi		49765
49766 [O75112-2]
49767 [O75112-3]
49768 [O75112-4]
49769 [O75112-5]
49770 [O75112-6]
49771 [O75112-7]

2D gel databases

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		O75112

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75112

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

More...PhosphoSitePlusi		O75112

<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

Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000122367 Expressed in 213 organ(s), highest expression level in cardiac ventricle

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75112 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75112 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA048955

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts via its LIM domains with various PKC isoforms (By similarity). Interacts via its PDZ domain with the ACTN2 C-terminal region. Interacts with MYOZ1, MYOZ2 and MYOZ3.By similarity2 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		116326, 6 interactors

Protein interaction database and analysis system

More...IntActi		O75112, 1 interactor

<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

Secondary structure

1727
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1RGWNMR-A1-85[»]
4YDPX-ray1.40A/B1-84[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O75112

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

More...SMRi		O75112

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O75112

<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 <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 84PDZPROSITE-ProRule annotationAdd BLAST84
Domaini549 – 607LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST59
Domaini608 – 667LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST60
Domaini668 – 727LIM zinc-binding 3PROSITE-ProRule annotationAdd BLAST60

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154877

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000220936

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051478

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75112

KEGG Orthology (KO)

More...KOi		K19867

Identification of Orthologs from Complete Genome Data

More...OMAi		CTSQATT

Database of Orthologous Groups

More...OrthoDBi		1013114at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75112

TreeFam database of animal gene trees

More...TreeFami		TF106408

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR031847 DUF4749
IPR001478 PDZ
IPR036034 PDZ_sf
IPR006643 Zasp-like_motif
IPR001781 Znf_LIM

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15936 DUF4749, 1 hit
PF00412 LIM, 3 hits
PF00595 PDZ, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00132 LIM, 3 hits
SM00228 PDZ, 1 hit
SM00735 ZM, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50156 SSF50156, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00478 LIM_DOMAIN_1, 2 hits
PS50023 LIM_DOMAIN_2, 3 hits
PS50106 PDZ, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 7 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1Curated (identifier: O75112-1) [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
MSYSVTLTGP GPWGFRLQGG KDFNMPLTIS RITPGSKAAQ SQLSQGDLVV 
        60         70         80         90        100
AIDGVNTDTM THLEAQNKIK SASYNLSLTL QKSKRPIPIS TTAPPVQTPL 
       110        120        130        140        150
PVIPHQKDPA LDTNGSLVAP SPSPEARASP GTPGTPELRP TFSPAFSRPS 
       160        170        180        190        200
AFSSLAEASD PGPPRASLRA KTSPEGARDL LGPKALPGSS QPRQYNNPIG 
       210        220        230        240        250
LYSAETLREM AQMYQMSLRG KASGVGLPGG SLPIKDLAVD SASPVYQAVI 
       260        270        280        290        300
KSQNKPEDEA DEWARRSSNL QSRSFRILAQ MTGTEFMQDP DEEALRRSST 
       310        320        330        340        350
PIEHAPVCTS QATTPLLPAS AQPPAAASPS AASPPLATAA AHTAIASAST 
       360        370        380        390        400
TAPASSPADS PRPQASSYSP AVAASSAPAT HTSYSEGPAA PAPKPRVVTT 
       410        420        430        440        450
ASIRPSVYQP VPASTYSPSP GANYSPTPYT PSPAPAYTPS PAPAYTPSPV 
       460        470        480        490        500
PTYTPSPAPA YTPSPAPNYN PAPSVAYSGG PAEPASRPPW VTDDSFSQKF 
       510        520        530        540        550
APGKSTTSIS KQTLPRGGPA YTPAGPQVPP LARGTVQRAE RFPASSRTPL 
       560        570        580        590        600
CGHCNNVIRG PFLVAMGRSW HPEEFTCAYC KTSLADVCFV EEQNNVYCER 
       610        620        630        640        650
CYEQFFAPLC AKCNTKIMGE VMHALRQTWH TTCFVCAACK KPFGNSLFHM 
       660        670        680        690        700
EDGEPYCEKD YINLFSTKCH GCDFPVEAGD KFIEALGHTW HDTCFICAVC 
       710        720 
HVNLEGQPFY SKKDRPLCKK HAHTINL
Note: No experimental confirmation available.Curated
Length:727
Mass (Da):77,135
Last modified:December 6, 2005 - 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:i67B5B699D2B2AB68
GO
Isoform 21 Publication (identifier: O75112-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-229: DPALDTNGSL...GKASGVGLPG → VVVNSPANAD...QAQAQGSDFS
     299-361: Missing.

Show »
Length:617
Mass (Da):66,671
Checksum:iF3F1EA54284E4271
GO
Isoform 31 Publication (identifier: O75112-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-364: Missing.

Show »
Length:470
Mass (Da):50,620
Checksum:iEEDF0FA566FF03D5
GO
Isoform 41 Publication (identifier: O75112-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     230-230: G → GADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSG
     299-329: STPIEHAPVCTSQATTPLLPASAQPPAAASP → RERFETERNSPRFAKLRNWHHGLSAQILNVK
     331-727: Missing.

Show »
Length:398
Mass (Da):42,832
Checksum:i9046ADEF699169BE
GO
Isoform 51 Publication (identifier: O75112-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     299-329: STPIEHAPVCTSQATTPLLPASAQPPAAASP → RERFETERNSPRFAKLRNWHHGLSAQILNVK
     331-727: Missing.

Show »
Length:330
Mass (Da):35,637
Checksum:iF6B8A00A6EF9B7E0
GO
Isoform 61 Publication (identifier: O75112-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-229: DPALDTNGSL...GKASGVGLPG → VVVNSPANAD...QAQAQGSDFS
     299-329: STPIEHAPVCTSQATTPLLPASAQPPAAASP → RERFETERNSPRFAKLRNWHHGLSAQILNVK
     331-727: Missing.

Show »
Length:283
Mass (Da):30,999
Checksum:i099A4472DB4D9258
GO
Isoform 7 (identifier: O75112-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     230-230: G → GADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSG
     299-361: Missing.

Note: No experimental confirmation available.
Show »
Length:732
Mass (Da):78,504
Checksum:i2820E6271E03DD4C
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A096LPD7A0A096LPD7_HUMAN
LIM domain-binding protein 3
LDB3
81Annotation 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>
A0A0C4DGG7A0A0C4DGG7_HUMAN
LIM domain-binding protein 3
LDB3
231Annotation 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

Isoform 6 : The sequence AAQ14317 differs from that shown. Reason: Frameshift at positions 231 and 258.Curated1 Publication
The sequence BAA31588 differs from that shown. Reason: Erroneous initiation.Curated
Isoform 6 : The sequence CAB46727 differs from that shown. Reason: Frameshift at positions 250 and 258.Curated1 Publication

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 conflicti365 – 368ASSY → VVVN in CAB46729 (PubMed:10427098).Curated4
Sequence conflicti372V → N in CAB46729 (PubMed:10427098).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02400855V → I1 PublicationCorresponds to variant dbSNP:rs3740343EnsemblClinVar.1
Natural variantiVAR_050146101P → L. Corresponds to variant dbSNP:rs45592139EnsemblClinVar.1
Natural variantiVAR_024009189S → L in CMD1C. 1 PublicationCorresponds to variant dbSNP:rs45487699Ensembl.1
Natural variantiVAR_024010206T → I in CMD1C. 1 PublicationCorresponds to variant dbSNP:rs121908337EnsemblClinVar.1
Natural variantiVAR_024011345I → M in CMD1C. 1 PublicationCorresponds to variant dbSNP:rs121908336EnsemblClinVar.1
Natural variantiVAR_024012635V → I1 PublicationCorresponds to variant dbSNP:rs45618633EnsemblClinVar.1
Natural variantiVAR_024013673D → N in CMD1C. 1 PublicationCorresponds to variant dbSNP:rs45514002EnsemblClinVar.1
Isoform 21 Publication (identifier: O75112-2)
Natural varianti117D → N in dilated cardiomyopathy with left ventricular non-compaction. 1
Natural varianti136K → M in dilated cardiomyopathy with left ventricular non-compaction. 1
Natural varianti147A → T in MFM4. 1
Natural varianti165A → V in MFM4. 1
Isoform 61 Publication (identifier: O75112-6)
Natural varianti147A → T in MFM4. Curated1 Publication1
Natural varianti165A → V in MFM4. Curated1 Publication1
Natural varianti268R → C in MFM4. Curated1 Publication1
Isoform 41 Publication (identifier: O75112-4)
Natural varianti232D → N in dilated cardiomyopathy with left ventricular non-compaction. 1
Natural varianti251K → M in dilated cardiomyopathy with left ventricular non-compaction. 1
Natural varianti262A → T in MFM4. 1
Natural varianti280A → V in MFM4. 1
Natural varianti383R → C in MFM4. 1
Isoform 51 Publication (identifier: O75112-5)
Natural varianti315R → C in MFM-ZASP. 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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_051897108 – 364Missing in isoform 3. 1 PublicationAdd BLAST257
Alternative sequenceiVSP_051898108 – 229DPALD…VGLPG → VVVNSPANADYQERFNPSAL KDSALSTHKPIEVKGLGGKA TIIHAQYNTPISMYSQDAIM DAIAGQAQAQGSDFS in isoform 2 and isoform 6. 3 PublicationsAdd BLAST122
Alternative sequenceiVSP_051899230G → GADYQERFNPSALKDSALST HKPIEVKGLGGKATIIHAQY NTPISMYSQDAIMDAIAGQA QAQGSDFSG in isoform 4 and isoform 7. 2 Publications1
Alternative sequenceiVSP_051900299 – 361Missing in isoform 2 and isoform 7. 2 PublicationsAdd BLAST63
Alternative sequenceiVSP_051901299 – 329STPIE…AAASP → RERFETERNSPRFAKLRNWH HGLSAQILNVK in isoform 4, isoform 5 and isoform 6. 3 PublicationsAdd BLAST31
Alternative sequenceiVSP_051902331 – 727Missing in isoform 4, isoform 5 and isoform 6. 3 PublicationsAdd BLAST397

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
AJ133766 mRNA Translation: CAB46727.1 Frameshift.
AJ133767 mRNA Translation: CAB46728.1
AJ133768 mRNA Translation: CAB46729.1
AF276807 mRNA Translation: AAQ14316.1
AF276808 mRNA Translation: AAQ14317.1 Frameshift.
AF276809 mRNA Translation: AAQ14318.1
AB014513 mRNA Translation: BAA31588.1 Different initiation.
AK304760 mRNA Translation: BAG65515.1
EF179181 Genomic DNA Translation: ABN05284.1
AC067750 Genomic DNA No translation available.
BC010929 mRNA Translation: AAH10929.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41544.1 [O75112-2]
CCDS41545.1 [O75112-6]
CCDS44450.1 [O75112-5]
CCDS53549.1 [O75112-4]
CCDS53550.1 [O75112-7]
CCDS7377.1 [O75112-1]

NCBI Reference Sequences

More...RefSeqi		NP_001073583.1, NM_001080114.1 [O75112-2]
NP_001073584.1, NM_001080115.1 [O75112-5]
NP_001073585.1, NM_001080116.1 [O75112-6]
NP_001165081.1, NM_001171610.1 [O75112-7]
NP_001165082.1, NM_001171611.1 [O75112-4]
NP_009009.1, NM_007078.2 [O75112-1]
XP_005269521.1, XM_005269464.4 [O75112-1]
XP_005269525.1, XM_005269468.4 [O75112-5]
XP_011537497.1, XM_011539195.2 [O75112-4]
XP_016871097.1, XM_017015608.1 [O75112-5]
XP_016871098.1, XM_017015609.1 [O75112-6]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.657271

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000263066; ENSP00000263066; ENSG00000122367 [O75112-2]
ENST00000361373; ENSP00000355296; ENSG00000122367 [O75112-1]
ENST00000372056; ENSP00000361126; ENSG00000122367 [O75112-4]
ENST00000372066; ENSP00000361136; ENSG00000122367 [O75112-6]
ENST00000429277; ENSP00000401437; ENSG00000122367 [O75112-7]
ENST00000623007; ENSP00000485389; ENSG00000122367 [O75112-5]
ENST00000623056; ENSP00000485500; ENSG00000122367 [O75112-7]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		11155

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:11155

UCSC genome browser

More...UCSCi		uc001kdr.4 human [O75112-1]

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
AJ133766 mRNA Translation: CAB46727.1 Frameshift.
AJ133767 mRNA Translation: CAB46728.1
AJ133768 mRNA Translation: CAB46729.1
AF276807 mRNA Translation: AAQ14316.1
AF276808 mRNA Translation: AAQ14317.1 Frameshift.
AF276809 mRNA Translation: AAQ14318.1
AB014513 mRNA Translation: BAA31588.1 Different initiation.
AK304760 mRNA Translation: BAG65515.1
EF179181 Genomic DNA Translation: ABN05284.1
AC067750 Genomic DNA No translation available.
BC010929 mRNA Translation: AAH10929.1
CCDSiCCDS41544.1 [O75112-2]
CCDS41545.1 [O75112-6]
CCDS44450.1 [O75112-5]
CCDS53549.1 [O75112-4]
CCDS53550.1 [O75112-7]
CCDS7377.1 [O75112-1]
RefSeqiNP_001073583.1, NM_001080114.1 [O75112-2]
NP_001073584.1, NM_001080115.1 [O75112-5]
NP_001073585.1, NM_001080116.1 [O75112-6]
NP_001165081.1, NM_001171610.1 [O75112-7]
NP_001165082.1, NM_001171611.1 [O75112-4]
NP_009009.1, NM_007078.2 [O75112-1]
XP_005269521.1, XM_005269464.4 [O75112-1]
XP_005269525.1, XM_005269468.4 [O75112-5]
XP_011537497.1, XM_011539195.2 [O75112-4]
XP_016871097.1, XM_017015608.1 [O75112-5]
XP_016871098.1, XM_017015609.1 [O75112-6]
UniGeneiHs.657271

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1RGWNMR-A1-85[»]
4YDPX-ray1.40A/B1-84[»]
ProteinModelPortaliO75112
SMRiO75112
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116326, 6 interactors
IntActiO75112, 1 interactor

PTM databases

iPTMnetiO75112
PhosphoSitePlusiO75112

Polymorphism and mutation databases

BioMutaiLDB3

2D gel databases

UCD-2DPAGEiO75112

Proteomic databases

jPOSTiO75112
MaxQBiO75112
PeptideAtlasiO75112
PRIDEiO75112
ProteomicsDBi49765
49766 [O75112-2]
49767 [O75112-3]
49768 [O75112-4]
49769 [O75112-5]
49770 [O75112-6]
49771 [O75112-7]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		11155
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263066; ENSP00000263066; ENSG00000122367 [O75112-2]
ENST00000361373; ENSP00000355296; ENSG00000122367 [O75112-1]
ENST00000372056; ENSP00000361126; ENSG00000122367 [O75112-4]
ENST00000372066; ENSP00000361136; ENSG00000122367 [O75112-6]
ENST00000429277; ENSP00000401437; ENSG00000122367 [O75112-7]
ENST00000623007; ENSP00000485389; ENSG00000122367 [O75112-5]
ENST00000623056; ENSP00000485500; ENSG00000122367 [O75112-7]
GeneIDi11155
KEGGihsa:11155
UCSCiuc001kdr.4 human [O75112-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		11155
DisGeNETi11155
EuPathDBiHostDB:ENSG00000122367.19

GeneCards: human genes, protein and diseases

More...GeneCardsi		LDB3
GeneReviewsiLDB3
HGNCiHGNC:15710 LDB3
HPAiHPA048955
MalaCardsiLDB3
MIMi601493 phenotype
605906 gene+phenotype
609452 phenotype
neXtProtiNX_O75112
OpenTargetsiENSG00000122367
Orphaneti293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
154 Familial isolated dilated cardiomyopathy
98912 Late-onset distal myopathy, Markesbery-Griggs type
54260 Left ventricular noncompaction
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA30318

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

GeneTreeiENSGT00940000154877
HOGENOMiHOG000220936
HOVERGENiHBG051478
InParanoidiO75112
KOiK19867
OMAiCTSQATT
OrthoDBi1013114at2759
PhylomeDBiO75112
TreeFamiTF106408

Miscellaneous databases

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

More...ChiTaRSi		LDB3 human
EvolutionaryTraceiO75112

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		LDB3

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

More...GenomeRNAii		11155

Protein Ontology

More...PROi		PR:O75112

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000122367 Expressed in 213 organ(s), highest expression level in cardiac ventricle
ExpressionAtlasiO75112 baseline and differential
GenevisibleiO75112 HS

Family and domain databases

InterProiView protein in InterPro
IPR031847 DUF4749
IPR001478 PDZ
IPR036034 PDZ_sf
IPR006643 Zasp-like_motif
IPR001781 Znf_LIM
PfamiView protein in Pfam
PF15936 DUF4749, 1 hit
PF00412 LIM, 3 hits
PF00595 PDZ, 1 hit
SMARTiView protein in SMART
SM00132 LIM, 3 hits
SM00228 PDZ, 1 hit
SM00735 ZM, 1 hit
SUPFAMiSSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS00478 LIM_DOMAIN_1, 2 hits
PS50023 LIM_DOMAIN_2, 3 hits
PS50106 PDZ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiLDB3_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: O75112
Secondary accession number(s): A2TDB7
, A6NIV4, B4E3K3, Q5K6N9, Q5K6P0, Q5K6P1, Q96FH2, Q9Y4Z3, Q9Y4Z4, Q9Y4Z5
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: January 16, 2019
This is version 169 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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