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UniProtKB - Q9NR12 (PDLI7_HUMAN)

Entry version 178 (02 Dec 2020)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
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Protein

PDZ and LIM domain protein 7

Gene

PDLIM7

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 a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved in both of the two fundamental mechanisms of bone formation, direct bone formation (e.g. embryonic flat bones mandible and cranium), and endochondral bone formation (e.g. embryonic long bone development). Plays a role during fracture repair. Involved in BMP6 signaling pathway (By similarity).By similarity2 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Molecular functionDevelopmental protein
Biological processDifferentiation, Osteogenesis
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NR12

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8853659, RET signaling

<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:
PDZ and LIM domain protein 7
Alternative name(s):
LIM mineralization protein
Short name:
LMP
Protein enigma
<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:PDLIM7
Synonyms:ENIGMA
<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 5

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000196923.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:22958, PDLIM7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605903, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NR12

<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

Keywords - Cellular componenti

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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi15 – 16GF → AA: Loss of binding to TPM2. 1 Publication2
Mutagenesisi63H → A: Loss of binding to TPM2. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		9260

Open Targets

More...OpenTargetsi		ENSG00000196923

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA128394546

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NR12, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PDLIM7

Domain mapping of disease mutations (DMDM)

More...DMDMi		74752914

<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_00000758811 – 457PDZ and LIM domain protein 7Add BLAST457

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 residuei78PhosphoserineCombined sources1
Modified residuei103Asymmetric dimethylarginineCombined sources1
Modified residuei111PhosphoserineCombined sources1
Modified residuei247PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-107
CPTAC-108

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NR12

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NR12

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NR12

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NR12

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

More...PaxDbi		Q9NR12

PeptideAtlas

More...PeptideAtlasi		Q9NR12

PRoteomics IDEntifications database

More...PRIDEi		Q9NR12

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82244 [Q9NR12-1]
82245 [Q9NR12-2]
82246 [Q9NR12-3]
82247 [Q9NR12-4]
82248 [Q9NR12-5]
82249 [Q9NR12-6]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		2908, 1 O-Linked glycan (1 site) [Q9NR12-4]

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9NR12, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NR12

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9NR12

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

More...PhosphoSitePlusi		Q9NR12

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9NR12

<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

Isoform 1 and isoform 2 are expressed ubiquitously, however, isoform 2 predominates in skeletal muscle, isoform 1 is more abundant in lung, spleen, leukocytes and fetal liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000196923, Expressed in thoracic aorta and 202 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NR12, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NR12, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000196923, 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

Binds via its LIM zinc-binding 3 domain (LIM 3) to endocytic codes of INSR, but not with those of IGF1R, LDLR, TFRC, or EGFR.

Interacts with various PKC isoforms through the LIM zinc-binding domains. Binds to RET in a phosphorylation-independent manner via its LIM zinc-binding domain 2 (LIM 2). Probably part of a complex with SHC and the RET dimer.

Interacts with TPM2.

Interacts with TBX4 and TBX5 (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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114682, 192 interactors

Protein interaction database and analysis system

More...IntActi		Q9NR12, 191 interactors

Molecular INTeraction database

More...MINTi		Q9NR12

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000348099

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NR12, 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

Secondary structure

1457
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9NR12

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9NR12

<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%5Fand%5Fdomains%5Fsection">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 – 85PDZPROSITE-ProRule annotationAdd BLAST85
Domaini280 – 338LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST59
Domaini339 – 398LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST60
Domaini399 – 457LIM zinc-binding 3PROSITE-ProRule annotationAdd BLAST59

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The LIM zinc-binding 2 (LIM 2) domain interacts with TBX4.By similarity
The LIM zinc-binding 3 (LIM 3) domain provides the structural basis for recognition of tyrosine-containing tight turn structures. This domain is necessary and sufficient for interaction with TBX5 (By similarity).By similarity
Anchored to cell periphery via its N-terminal PDZ domain.

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1703, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159626

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001357_8_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NR12

Identification of Orthologs from Complete Genome Data

More...OMAi		HQCHKII

Database of Orthologous Groups

More...OrthoDBi		1013114at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NR12

TreeFam database of animal gene trees

More...TreeFami		TF106408

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.42.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001478, PDZ
IPR036034, PDZ_sf
IPR001781, Znf_LIM

Pfam protein domain database

More...Pfami		View protein in Pfam
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

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%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 (6+)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 6 <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 6 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NR12-1) [UniParc]FASTAAdd to basket
Also known as: LMP-1

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
MDSFKVVLEG PAPWGFRLQG GKDFNVPLSI SRLTPGGKAA QAGVAVGDWV 
        60         70         80         90        100
LSIDGENAGS LTHIEAQNKI RACGERLSLG LSRAQPVQSK PQKASAPAAD 
       110        120        130        140        150
PPRYTFAPSV SLNKTARPFG APPPADSAPQ QNGQPLRPLV PDASKQRLME 
       160        170        180        190        200
NTEDWRPRPG TGQSRSFRIL AHLTGTEFMQ DPDEEHLKKS SQVPRTEAPA 
       210        220        230        240        250
PASSTPQEPW PGPTAPSPTS RPPWAVDPAF AERYAPDKTS TVLTRHSQPA 
       260        270        280        290        300
TPTPLQSRTS IVQAAAGGVP GGGSNNGKTP VCHQCHKVIR GRYLVALGHA 
       310        320        330        340        350
YHPEEFVCSQ CGKVLEEGGF FEEKGAIFCP PCYDVRYAPS CAKCKKKITG 
       360        370        380        390        400
EIMHALKMTW HVHCFTCAAC KTPIRNRAFY MEEGVPYCER DYEKMFGTKC 
       410        420        430        440        450
HGCDFKIDAG DRFLEALGFS WHDTCFVCAI CQINLEGKTF YSKKDRPLCK 

SHAFSHV
Length:457
Mass (Da):49,845
Last modified:October 1, 2000 - v1
<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:iAA37F9E8E987D990
GO
Isoform 2 (identifier: Q9NR12-2) [UniParc]FASTAAdd to basket
Also known as: LMP-2

The sequence of this isoform differs from the canonical sequence as follows:
     94-133: ASAPAADPPRYTFAPSVSLNKTARPFGAPPPADSAPQQNG → VQTPDK

Note: Did not induce bone induction.Curated
Show »
Length:423
Mass (Da):46,510
Checksum:i486E854CABB4D494
GO
Isoform 3 (identifier: Q9NR12-3) [UniParc]FASTAAdd to basket
Also known as: LMP-3

The sequence of this isoform differs from the canonical sequence as follows:
     134-153: QPLRPLVPDASKQRLMENTE → CRPLTNSRSDRWSQMPASSG
     154-457: Missing.

Note: Same activity as isoform 1 in bone nodule induction.Curated
Show »
Length:153
Mass (Da):16,034
Checksum:i257AD5C3CD61F6F1
GO
Isoform 4 (identifier: Q9NR12-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     191-287: SQVPRTEAPA...KTPVCHQCHK → RPYRPQPYQP...PRVPPGGVCV
     288-457: Missing.

Show »
Length:287
Mass (Da):30,411
Checksum:i7B30CF3E6197899C
GO
Isoform 5 (identifier: Q9NR12-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     192-457: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:191
Mass (Da):20,514
Checksum:iB9B6B99E12B23B25
GO
Isoform 6 (identifier: Q9NR12-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     191-222: SQVPRTEAPAPASSTPQEPWPGPTAPSPTSRP → REKYVLELQSPRYTRLRDWHHQRSAHVLNVQS
     223-457: Missing.

Show »
Length:222
Mass (Da):24,413
Checksum:iADF21719E4928621
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BYK4H7BYK4_HUMAN
PDZ and LIM domain protein 7
PDLIM7
195Annotation 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>
D6RH06D6RH06_HUMAN
PDZ and LIM domain protein 7
PDLIM7
287Annotation 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>
D6RF83D6RF83_HUMAN
PDZ and LIM domain protein 7
PDLIM7
173Annotation 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>
H0Y8W6H0Y8W6_HUMAN
PDZ and LIM domain protein 7
PDLIM7
120Annotation 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>
D6RAN1D6RAN1_HUMAN
PDZ and LIM domain protein 7
PDLIM7
90Annotation 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 AAC37565 differs from that shown. Reason: Frameshift.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 conflicti138P → Q in BC067806 (PubMed:15489334).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_050168326A → T. Corresponds to variant dbSNP:rs2306764Ensembl.1
Natural variantiVAR_036193450K → N in a breast cancer sample; somatic mutation. 1 Publication1

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_01650994 – 133ASAPA…PQQNG → VQTPDK in isoform 2. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_016510134 – 153QPLRP…MENTE → CRPLTNSRSDRWSQMPASSG in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_016513154 – 457Missing in isoform 3. 1 PublicationAdd BLAST304
Alternative sequenceiVSP_016511191 – 287SQVPR…HQCHK → RPYRPQPYQPPALGCGPCVC RALCPGQNEHSADPAQPAGH AHAAAEPHLHCAGSCRRGAR RGQQQRQDSRVSPVPQGHPG PLPGGAGPRVPPGGVCV in isoform 4. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_016512191 – 222SQVPR…PTSRP → REKYVLELQSPRYTRLRDWH HQRSAHVLNVQS in isoform 6. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_016514192 – 457Missing in isoform 5. 1 PublicationAdd BLAST266
Alternative sequenceiVSP_016515223 – 457Missing in isoform 6. 1 PublicationAdd BLAST235
Alternative sequenceiVSP_016516288 – 457Missing in isoform 4. 1 PublicationAdd BLAST170

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
L35240 Genomic DNA Translation: AAC37565.1 Frameshift.
AF345904 mRNA Translation: AAK30567.1
AF345905 mRNA Translation: AAK30568.1
AF345906 mRNA Translation: AAK30569.1
AF265209 mRNA Translation: AAF76152.1
BC001093 mRNA Translation: AAH01093.1
BC014521 mRNA Translation: AAH14521.1
BC067806 mRNA No translation available.
BC084575 mRNA Translation: AAH84575.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4422.1 [Q9NR12-1]
CCDS4423.1 [Q9NR12-2]
CCDS4424.1 [Q9NR12-6]

Protein sequence database of the Protein Information Resource

More...PIRi		A55050

NCBI Reference Sequences

More...RefSeqi		NP_005442.2, NM_005451.4 [Q9NR12-1]
NP_976227.1, NM_203352.2 [Q9NR12-2]
NP_998801.1, NM_213636.2 [Q9NR12-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000355572; ENSP00000347776; ENSG00000196923 [Q9NR12-6]
ENST00000355841; ENSP00000348099; ENSG00000196923 [Q9NR12-1]
ENST00000359895; ENSP00000352964; ENSG00000196923 [Q9NR12-2]
ENST00000393551; ENSP00000377182; ENSG00000196923 [Q9NR12-4]
ENST00000486828; ENSP00000439157; ENSG00000196923 [Q9NR12-5]
ENST00000493815; ENSP00000431236; ENSG00000196923 [Q9NR12-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9260

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9260

UCSC genome browser

More...UCSCi		uc003mhb.3, human [Q9NR12-1]

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
L35240 Genomic DNA Translation: AAC37565.1 Frameshift.
AF345904 mRNA Translation: AAK30567.1
AF345905 mRNA Translation: AAK30568.1
AF345906 mRNA Translation: AAK30569.1
AF265209 mRNA Translation: AAF76152.1
BC001093 mRNA Translation: AAH01093.1
BC014521 mRNA Translation: AAH14521.1
BC067806 mRNA No translation available.
BC084575 mRNA Translation: AAH84575.1
CCDSiCCDS4422.1 [Q9NR12-1]
CCDS4423.1 [Q9NR12-2]
CCDS4424.1 [Q9NR12-6]
PIRiA55050
RefSeqiNP_005442.2, NM_005451.4 [Q9NR12-1]
NP_976227.1, NM_203352.2 [Q9NR12-2]
NP_998801.1, NM_213636.2 [Q9NR12-6]

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
2Q3GX-ray1.11A/B1-84[»]
SMRiQ9NR12
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114682, 192 interactors
IntActiQ9NR12, 191 interactors
MINTiQ9NR12
STRINGi9606.ENSP00000348099

PTM databases

GlyConnecti2908, 1 O-Linked glycan (1 site) [Q9NR12-4]
GlyGeniQ9NR12, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ9NR12
MetOSiteiQ9NR12
PhosphoSitePlusiQ9NR12
SwissPalmiQ9NR12

Polymorphism and mutation databases

BioMutaiPDLIM7
DMDMi74752914

Proteomic databases

CPTACiCPTAC-107
CPTAC-108
EPDiQ9NR12
jPOSTiQ9NR12
MassIVEiQ9NR12
MaxQBiQ9NR12
PaxDbiQ9NR12
PeptideAtlasiQ9NR12
PRIDEiQ9NR12
ProteomicsDBi82244 [Q9NR12-1]
82245 [Q9NR12-2]
82246 [Q9NR12-3]
82247 [Q9NR12-4]
82248 [Q9NR12-5]
82249 [Q9NR12-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		17442, 134 antibodies

The DNASU plasmid repository

More...DNASUi		9260

Genome annotation databases

EnsembliENST00000355572; ENSP00000347776; ENSG00000196923 [Q9NR12-6]
ENST00000355841; ENSP00000348099; ENSG00000196923 [Q9NR12-1]
ENST00000359895; ENSP00000352964; ENSG00000196923 [Q9NR12-2]
ENST00000393551; ENSP00000377182; ENSG00000196923 [Q9NR12-4]
ENST00000486828; ENSP00000439157; ENSG00000196923 [Q9NR12-5]
ENST00000493815; ENSP00000431236; ENSG00000196923 [Q9NR12-3]
GeneIDi9260
KEGGihsa:9260
UCSCiuc003mhb.3, human [Q9NR12-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9260
DisGeNETi9260
EuPathDBiHostDB:ENSG00000196923.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		PDLIM7
HGNCiHGNC:22958, PDLIM7
HPAiENSG00000196923, Tissue enhanced (skeletal)
MIMi605903, gene
neXtProtiNX_Q9NR12
OpenTargetsiENSG00000196923
PharmGKBiPA128394546

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1703, Eukaryota
GeneTreeiENSGT00940000159626
HOGENOMiCLU_001357_8_1_1
InParanoidiQ9NR12
OMAiHQCHKII
OrthoDBi1013114at2759
PhylomeDBiQ9NR12
TreeFamiTF106408

Enzyme and pathway databases

PathwayCommonsiQ9NR12
ReactomeiR-HSA-8853659, RET signaling

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9260, 16 hits in 844 CRISPR screens

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

More...ChiTaRSi		PDLIM7, human
EvolutionaryTraceiQ9NR12

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PDLIM7

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

More...GenomeRNAii		9260
PharosiQ9NR12, Tbio

Protein Ontology

More...PROi		PR:Q9NR12
RNActiQ9NR12, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000196923, Expressed in thoracic aorta and 202 other tissues
ExpressionAtlasiQ9NR12, baseline and differential
GenevisibleiQ9NR12, HS

Family and domain databases

Gene3Di2.30.42.10, 1 hit
InterProiView protein in InterPro
IPR001478, PDZ
IPR036034, PDZ_sf
IPR001781, Znf_LIM
PfamiView protein in Pfam
PF00412, LIM, 3 hits
PF00595, PDZ, 1 hit
SMARTiView protein in SMART
SM00132, LIM, 3 hits
SM00228, PDZ, 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...

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 nameiPDLI7_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: Q9NR12
Secondary accession number(s): Q14250
, Q5XG82, Q6NVZ5, Q96C91, Q9BXB8, Q9BXB9
<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: December 6, 2005
Last sequence update: October 1, 2000
Last modified: December 2, 2020
This is version 178 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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