Q53GG5 (PDLI3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 87.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: PDZ and LIM domain protein 3 Alternative name(s): Actinin-associated LIM protein Alpha-actinin-2-associated LIM protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 364 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May play a role in the organization of actin filament arrays within muscle cells By similarity. |
| Subunit structure | Interacts with ACTN2 By similarity. |
| Subcellular location | Cytoplasm › myofibril › sarcomere › Z line. Note: Localizes to myofiber Z-lines. Ref.2 |
| Tissue specificity | Isoform 1 is highly expressed in differentiated skeletal muscle. Isoform 2 is heart-specific. Ref.1 |
| Sequence similarities | Contains 1 LIM zinc-binding domain. Contains 1 PDZ (DHR) domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | LIM domain |
| Ligand | Metal-binding Zinc |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | actin filament organization Inferred from electronic annotation. Source: Compara heart developmentInferred from electronic annotation. Source: Compara |
| Cellular_component | Z disc Inferred from electronic annotation. Source: UniProtKB-SubCell actin cytoskeletonInferred from electronic annotation. Source: Compara |
| Molecular_function | structural constituent of muscle Inferred from electronic annotation. Source: Compara zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| RANBP2 | P49792 | 3 | EBI-5658852,EBI-973138 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q53GG5-1) Also known as: ALP-SK; 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. | ||||||
| Isoform 2 (identifier: Q53GG5-2) Also known as: ALP-H; The sequence of this isoform differs from the canonical sequence as follows: 111-224: DGNYFEHKHN...GETPLMSEPT → EFKPIGTAHN...IPSSPQNEPT | ||||||
| Isoform 3 (identifier: Q53GG5-3) The sequence of this isoform differs from the canonical sequence as follows: 111-233: DGNYFEHKHN...TASVPPESDV → EFKPIGTAHN...TSIIFGPNLS 234-364: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 364 | 364 | PDZ and LIM domain protein 3 | PRO_0000075867 | |||||
Regions | |||||||||
| Domain | 1 – 84 | 84 | PDZ | ||||||
| Domain | 292 – 351 | 60 | LIM zinc-binding | ||||||
Natural variations | |||||||||
| Alternative sequence | 111 – 233 | 123 | DGNYF…PESDV → EFKPIGTAHNRRAQPFVAAA NIDDKRQVVSASYNSPIGLY STSNIQDALHGQLRGLIPSS PQKTGTTLNTSIIFGPNLS in isoform 3. | VSP_016500 | |||||
| Alternative sequence | 111 – 224 | 114 | DGNYF…MSEPT → EFKPIGTAHNRRAQPFVAAA NIDDKRQVVSASYNSPIGLY STSNIQDALHGQLRGLIPSS PQNEPT in isoform 2. | VSP_016501 | |||||
| Alternative sequence | 234 – 364 | 131 | Missing in isoform 3. | VSP_016502 | |||||
| Natural variant | 127 | 1 | V → M. Corresponds to variant rs11944325 [ dbSNP | Ensembl ]. | VAR_050166 | |||||
Experimental info | |||||||||
| Sequence conflict | 12 | 1 | P → A in AAC16670. Ref.1 | ||||||
| Sequence conflict | 12 | 1 | P → A in AAC16672. Ref.1 | ||||||
| Sequence conflict | 40 | 1 | A → G in AAC16670. Ref.1 | ||||||
| Sequence conflict | 40 | 1 | A → G in AAC16672. Ref.1 | ||||||
| Sequence conflict | 217 | 1 | T → I in AAC16670. Ref.1 | ||||||
| Sequence conflict | 221 | 1 | S → N in AAB96665. Ref.2 | ||||||
| Sequence conflict | 353 | 1 | E → R in AAC16670. Ref.1 | ||||||
| Sequence conflict | 353 | 1 | E → R in AAC16672. Ref.1 | ||||||
Sequences
| ||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs." Xia H., Winokur S.T., Kuo W.-L., Altherr M.R., Bredt D.S. J. Cell Biol. 139:507-515(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, TISSUE SPECIFICITY. Tissue: Skeletal muscle. |
| [2] | "Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes." Bouju S., Pietu G., Le Cunff M., Cros N., Malzac P., Pellissier J.-F., Pons F., Leger J.-J., Auffray C., Dechesne C.A. Neuromuscul. Disord. 9:3-10(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [4] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). |
| [5] | Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Heart. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Tissue: Lung and Skin. |
| [8] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF002280 mRNA. Translation: AAC16670.1. AF002282 mRNA. Translation: AAC16672.1. AF039018 mRNA. Translation: AAB96665.1. AK313253 mRNA. Translation: BAG36063.1. BT007341 mRNA. Translation: AAP36005.1. AK222966 mRNA. Translation: BAD96686.1. CH471056 Genomic DNA. Translation: EAX04641.1. BC001017 mRNA. No translation available. BC027870 mRNA. Translation: AAH27870.1. |
| IPI | IPI00004471. IPI00015745. IPI00167134. |
| RefSeq | NP_001107579.1. NM_001114107.4. NP_055291.2. NM_014476.5. |
| UniGene | Hs.731826. |
3D structure databases | |
| ProteinModelPortal | Q53GG5. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q53GG5. 9 interactions. |
| STRING | 9606.ENSP00000284770. |
PTM databases | |
| PhosphoSite | Q53GG5. |
Polymorphism databases | |
| DMDM | 74740479. |
Proteomic databases | |
| PaxDb | Q53GG5. |
| PRIDE | Q53GG5. |
Protocols and materials databases | |
| DNASU | 27295. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000284767; ENSP00000284767; ENSG00000154553. ENST00000284770; ENSP00000284770; ENSG00000154553. ENST00000284771; ENSP00000284771; ENSG00000154553. |
| GeneID | 27295. |
| KEGG | hsa:27295. |
| UCSC | uc003ixw.4. human. uc003ixx.4. human. uc003ixy.3. human. |
Organism-specific databases | |
| CTD | 27295. |
| GeneCards | GC04M186422. |
| HGNC | HGNC:20767. PDLIM3. |
| HPA | HPA004749. |
| MIM | 605889. gene. |
| neXtProt | NX_Q53GG5. |
| PharmGKB | PA134970631. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG258467. |
| HOVERGEN | HBG061371. |
| InParanoid | Q53GG5. |
| OMA | SMSEPTA. |
| OrthoDB | EOG4DR9CT. |
| PhylomeDB | Q53GG5. |
Gene expression databases | |
| ArrayExpress | Q53GG5. |
| Bgee | Q53GG5. |
| CleanEx | HS_PDLIM3. |
| Genevestigator | Q53GG5. |
| GermOnline | ENSG00000154553. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.10.110.10. 1 hit. |
| InterPro | IPR001478. PDZ. IPR006643. ZASP. IPR001781. Znf_LIM. [Graphical view] |
| Pfam | PF00412. LIM. 1 hit. PF00595. PDZ. 1 hit. [Graphical view] |
| SMART | SM00132. LIM. 1 hit. SM00228. PDZ. 1 hit. SM00735. ZM. 1 hit. [Graphical view] |
| SUPFAM | SSF50156. PDZ. 1 hit. |
| PROSITE | PS00478. LIM_DOMAIN_1. 1 hit. PS50023. LIM_DOMAIN_2. 1 hit. PS50106. PDZ. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | PDLIM3. human. |
| GenomeRNAi | 27295. |
| NextBio | 50262. |
| SOURCE | Search... |
Entry information
| Entry name | PDLI3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q53GG5 Secondary accession number(s): B2R866 Q9BVP4 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
