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Q53GG5 (PDLI3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
PDZ and LIM domain protein 3
Alternative name(s):
Actinin-associated LIM protein
Alpha-actinin-2-associated LIM protein
Gene names
Name:PDLIM3
Synonyms:ALP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length364 AA.
Sequence statusComplete.
Protein existenceEvidence 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

CytoplasmmyofibrilsarcomereZ 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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

RANBP2P497923EBI-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 364364PDZ and LIM domain protein 3
PRO_0000075867

Regions

Domain1 – 8484PDZ
Domain292 – 35160LIM zinc-binding

Natural variations

Alternative sequence111 – 233123DGNYF…PESDV → EFKPIGTAHNRRAQPFVAAA NIDDKRQVVSASYNSPIGLY STSNIQDALHGQLRGLIPSS PQKTGTTLNTSIIFGPNLS in isoform 3.
VSP_016500
Alternative sequence111 – 224114DGNYF…MSEPT → EFKPIGTAHNRRAQPFVAAA NIDDKRQVVSASYNSPIGLY STSNIQDALHGQLRGLIPSS PQNEPT in isoform 2.
VSP_016501
Alternative sequence234 – 364131Missing in isoform 3.
VSP_016502
Natural variant1271V → M.
Corresponds to variant rs11944325 [ dbSNP | Ensembl ].
VAR_050166

Experimental info

Sequence conflict121P → A in AAC16670. Ref.1
Sequence conflict121P → A in AAC16672. Ref.1
Sequence conflict401A → G in AAC16670. Ref.1
Sequence conflict401A → G in AAC16672. Ref.1
Sequence conflict2171T → I in AAC16670. Ref.1
Sequence conflict2211S → N in AAB96665. Ref.2
Sequence conflict3531E → R in AAC16670. Ref.1
Sequence conflict3531E → R in AAC16672. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (ALP-SK) [UniParc].

Last modified May 24, 2005. Version 1.
Checksum: 083802DF22D7A237

FASTA36439,232
        10         20         30         40         50         60 
MPQTVILPGP APWGFRLSGG IDFNQPLVIT RITPGSKAAA ANLCPGDVIL AIDGFGTESM 

        70         80         90        100        110        120 
THADAQDRIK AAAHQLCLKI DRGETHLWSP QVSEDGKAHP FKINLESEPQ DGNYFEHKHN 

       130        140        150        160        170        180 
IRPKPFVIPG RSSGCSTPSG IDCGSGRSTP SSVSTVSTIC PGDLKVAAKL APNIPLEMEL 

       190        200        210        220        230        240 
PGVKIVHAQF NTPMQLYSDD NIMETLQGQV STALGETPLM SEPTASVPPE SDVYRMLHDN 

       250        260        270        280        290        300 
RNEPTQPRQS GSFRVLQGMV DDGSDDRPAG TRSVRAPVTK VHGGSGGAQR MPLCDKCGSG 

       310        320        330        340        350        360 
IVGAVVKARD KYRHPECFVC ADCNLNLKQK GYFFIEGELY CETHARARTK PPEGYDTVTL 


YPKA 

« Hide

Isoform 2 (ALP-H) [UniParc].

Checksum: 99FB41E90188ED8A
Show »

FASTA31634,280
Isoform 3 [UniParc].

Checksum: 4DB3477EA08C336E
Show »

FASTA18920,214

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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.
CCDSCCDS3844.1. [Q53GG5-1]
CCDS47172.1. [Q53GG5-2]
RefSeqNP_001107579.1. NM_001114107.4. [Q53GG5-2]
NP_055291.2. NM_014476.5. [Q53GG5-1]
UniGeneHs.701364.

3D structure databases

ProteinModelPortalQ53GG5.
SMRQ53GG5. Positions 5-93, 269-352.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118119. 2 interactions.
IntActQ53GG5. 9 interactions.
STRING9606.ENSP00000284770.

PTM databases

PhosphoSiteQ53GG5.

Polymorphism databases

DMDM74740479.

Proteomic databases

MaxQBQ53GG5.
PaxDbQ53GG5.
PRIDEQ53GG5.

Protocols and materials databases

DNASU27295.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284767; ENSP00000284767; ENSG00000154553. [Q53GG5-3]
ENST00000284770; ENSP00000284770; ENSG00000154553. [Q53GG5-1]
ENST00000284771; ENSP00000284771; ENSG00000154553. [Q53GG5-2]
GeneID27295.
KEGGhsa:27295.
UCSCuc003ixw.4. human. [Q53GG5-1]
uc003ixx.4. human. [Q53GG5-2]
uc003ixy.3. human. [Q53GG5-3]

Organism-specific databases

CTD27295.
GeneCardsGC04M186422.
HGNCHGNC:20767. PDLIM3.
HPAHPA004749.
MIM605889. gene.
neXtProtNX_Q53GG5.
PharmGKBPA134970631.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG258467.
HOVERGENHBG061371.
InParanoidQ53GG5.
OMASMSEPTA.
OrthoDBEOG77DJ69.
PhylomeDBQ53GG5.
TreeFamTF106408.

Gene expression databases

ArrayExpressQ53GG5.
BgeeQ53GG5.
CleanExHS_PDLIM3.
GenevestigatorQ53GG5.

Family and domain databases

Gene3D2.10.110.10. 1 hit.
2.30.42.10. 1 hit.
InterProIPR001478. PDZ.
IPR006643. ZASP.
IPR001781. Znf_LIM.
[Graphical view]
PfamPF00412. LIM. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view]
SMARTSM00132. LIM. 1 hit.
SM00228. PDZ. 1 hit.
SM00735. ZM. 1 hit.
[Graphical view]
SUPFAMSSF50156. SSF50156. 1 hit.
PROSITEPS00478. LIM_DOMAIN_1. 1 hit.
PS50023. LIM_DOMAIN_2. 1 hit.
PS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPDLIM3. human.
GeneWikiPDLIM3.
GenomeRNAi27295.
NextBio50262.
PROQ53GG5.
SOURCESearch...

Entry information

Entry namePDLI3_HUMAN
AccessionPrimary (citable) accession number: Q53GG5
Secondary accession number(s): B2R866 expand/collapse secondary AC list , O43590, O60439, O60440, Q8N6Y6, Q9BVP4
Entry history
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: May 24, 2005
Last modified: July 9, 2014
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM