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Q53GG5

- PDLI3_HUMAN

UniProt

Q53GG5 - PDLI3_HUMAN

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Protein

PDZ and LIM domain protein 3

Gene

PDLIM3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

May play a role in the organization of actin filament arrays within muscle cells.By similarity

GO - Molecular functioni

  1. structural constituent of muscle Source: Ensembl
  2. zinc ion binding Source: InterPro

GO - Biological processi

  1. actin filament organization Source: Ensembl
  2. heart development Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
PDZ and LIM domain protein 3
Alternative name(s):
Actinin-associated LIM protein
Alpha-actinin-2-associated LIM protein
Gene namesi
Name:PDLIM3
Synonyms:ALP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:20767. PDLIM3.

Subcellular locationi

CytoplasmmyofibrilsarcomereZ line 1 Publication
Note: Localizes to myofiber Z-lines.

GO - Cellular componenti

  1. actin cytoskeleton Source: Ensembl
  2. cytoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134970631.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 364364PDZ and LIM domain protein 3PRO_0000075867Add
BLAST

Proteomic databases

MaxQBiQ53GG5.
PaxDbiQ53GG5.
PRIDEiQ53GG5.

PTM databases

PhosphoSiteiQ53GG5.

Expressioni

Tissue specificityi

Isoform 1 is highly expressed in differentiated skeletal muscle. Isoform 2 is heart-specific.1 Publication

Gene expression databases

BgeeiQ53GG5.
CleanExiHS_PDLIM3.
ExpressionAtlasiQ53GG5. baseline and differential.
GenevestigatoriQ53GG5.

Organism-specific databases

HPAiHPA004749.

Interactioni

Subunit structurei

Interacts with ACTN2.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
RANBP2P497923EBI-5658852,EBI-973138

Protein-protein interaction databases

BioGridi118119. 2 interactions.
IntActiQ53GG5. 9 interactions.
STRINGi9606.ENSP00000284770.

Structurei

3D structure databases

ProteinModelPortaliQ53GG5.
SMRiQ53GG5. Positions 5-93, 269-352.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 8484PDZPROSITE-ProRule annotationAdd
BLAST
Domaini292 – 35160LIM zinc-bindingPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 LIM zinc-binding domain.PROSITE-ProRule annotation
Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

Keywords - Domaini

LIM domain

Phylogenomic databases

eggNOGiNOG258467.
GeneTreeiENSGT00590000082980.
HOVERGENiHBG061371.
InParanoidiQ53GG5.
OMAiSMSEPTA.
OrthoDBiEOG77DJ69.
PhylomeDBiQ53GG5.
TreeFamiTF106408.

Family and domain databases

Gene3Di2.10.110.10. 1 hit.
2.30.42.10. 1 hit.
InterProiIPR001478. PDZ.
IPR006643. ZASP.
IPR001781. Znf_LIM.
[Graphical view]
PfamiPF00412. LIM. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view]
SMARTiSM00132. LIM. 1 hit.
SM00228. PDZ. 1 hit.
SM00735. ZM. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
PROSITEiPS00478. LIM_DOMAIN_1. 1 hit.
PS50023. LIM_DOMAIN_2. 1 hit.
PS50106. PDZ. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q53GG5-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MPQTVILPGP APWGFRLSGG IDFNQPLVIT RITPGSKAAA ANLCPGDVIL
60 70 80 90 100
AIDGFGTESM THADAQDRIK AAAHQLCLKI DRGETHLWSP QVSEDGKAHP
110 120 130 140 150
FKINLESEPQ DGNYFEHKHN IRPKPFVIPG RSSGCSTPSG IDCGSGRSTP
160 170 180 190 200
SSVSTVSTIC PGDLKVAAKL APNIPLEMEL PGVKIVHAQF NTPMQLYSDD
210 220 230 240 250
NIMETLQGQV STALGETPLM SEPTASVPPE SDVYRMLHDN RNEPTQPRQS
260 270 280 290 300
GSFRVLQGMV DDGSDDRPAG TRSVRAPVTK VHGGSGGAQR MPLCDKCGSG
310 320 330 340 350
IVGAVVKARD KYRHPECFVC ADCNLNLKQK GYFFIEGELY CETHARARTK
360
PPEGYDTVTL YPKA
Length:364
Mass (Da):39,232
Last modified:May 24, 2005 - v1
Checksum:i083802DF22D7A237
GO
Isoform 2 (identifier: Q53GG5-2) [UniParc]FASTAAdd to Basket

Also known as: ALP-H

The sequence of this isoform differs from the canonical sequence as follows:
     111-224: DGNYFEHKHN...GETPLMSEPT → EFKPIGTAHN...IPSSPQNEPT

Show »
Length:316
Mass (Da):34,280
Checksum:i99FB41E90188ED8A
GO
Isoform 3 (identifier: Q53GG5-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     111-233: DGNYFEHKHN...TASVPPESDV → EFKPIGTAHN...TSIIFGPNLS
     234-364: Missing.

Show »
Length:189
Mass (Da):20,214
Checksum:i4DB3477EA08C336E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti12 – 121P → A in AAC16670. (PubMed:9334352)Curated
Sequence conflicti12 – 121P → A in AAC16672. (PubMed:9334352)Curated
Sequence conflicti40 – 401A → G in AAC16670. (PubMed:9334352)Curated
Sequence conflicti40 – 401A → G in AAC16672. (PubMed:9334352)Curated
Sequence conflicti217 – 2171T → I in AAC16670. (PubMed:9334352)Curated
Sequence conflicti221 – 2211S → N in AAB96665. (PubMed:10063829)Curated
Sequence conflicti353 – 3531E → R in AAC16670. (PubMed:9334352)Curated
Sequence conflicti353 – 3531E → R in AAC16672. (PubMed:9334352)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti127 – 1271V → M.
Corresponds to variant rs11944325 [ dbSNP | Ensembl ].
VAR_050166

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei111 – 233123DGNYF…PESDV → EFKPIGTAHNRRAQPFVAAA NIDDKRQVVSASYNSPIGLY STSNIQDALHGQLRGLIPSS PQKTGTTLNTSIIFGPNLS in isoform 3. 2 PublicationsVSP_016500Add
BLAST
Alternative sequencei111 – 224114DGNYF…MSEPT → EFKPIGTAHNRRAQPFVAAA NIDDKRQVVSASYNSPIGLY STSNIQDALHGQLRGLIPSS PQNEPT in isoform 2. 2 PublicationsVSP_016501Add
BLAST
Alternative sequencei234 – 364131Missing in isoform 3. 2 PublicationsVSP_016502Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS3844.1. [Q53GG5-1]
CCDS47172.1. [Q53GG5-2]
RefSeqiNP_001107579.1. NM_001114107.4. [Q53GG5-2]
NP_055291.2. NM_014476.5. [Q53GG5-1]
UniGeneiHs.701364.

Genome annotation databases

EnsembliENST00000284770; ENSP00000284770; ENSG00000154553. [Q53GG5-1]
ENST00000284771; ENSP00000284771; ENSG00000154553. [Q53GG5-2]
GeneIDi27295.
KEGGihsa:27295.
UCSCiuc003ixw.4. human. [Q53GG5-1]
uc003ixx.4. human. [Q53GG5-2]
uc003ixy.3. human. [Q53GG5-3]

Polymorphism databases

DMDMi74740479.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS3844.1. [Q53GG5-1 ]
CCDS47172.1. [Q53GG5-2 ]
RefSeqi NP_001107579.1. NM_001114107.4. [Q53GG5-2 ]
NP_055291.2. NM_014476.5. [Q53GG5-1 ]
UniGenei Hs.701364.

3D structure databases

ProteinModelPortali Q53GG5.
SMRi Q53GG5. Positions 5-93, 269-352.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118119. 2 interactions.
IntActi Q53GG5. 9 interactions.
STRINGi 9606.ENSP00000284770.

PTM databases

PhosphoSitei Q53GG5.

Polymorphism databases

DMDMi 74740479.

Proteomic databases

MaxQBi Q53GG5.
PaxDbi Q53GG5.
PRIDEi Q53GG5.

Protocols and materials databases

DNASUi 27295.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284770 ; ENSP00000284770 ; ENSG00000154553 . [Q53GG5-1 ]
ENST00000284771 ; ENSP00000284771 ; ENSG00000154553 . [Q53GG5-2 ]
GeneIDi 27295.
KEGGi hsa:27295.
UCSCi uc003ixw.4. human. [Q53GG5-1 ]
uc003ixx.4. human. [Q53GG5-2 ]
uc003ixy.3. human. [Q53GG5-3 ]

Organism-specific databases

CTDi 27295.
GeneCardsi GC04M186422.
HGNCi HGNC:20767. PDLIM3.
HPAi HPA004749.
MIMi 605889. gene.
neXtProti NX_Q53GG5.
PharmGKBi PA134970631.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG258467.
GeneTreei ENSGT00590000082980.
HOVERGENi HBG061371.
InParanoidi Q53GG5.
OMAi SMSEPTA.
OrthoDBi EOG77DJ69.
PhylomeDBi Q53GG5.
TreeFami TF106408.

Miscellaneous databases

ChiTaRSi PDLIM3. human.
GeneWikii PDLIM3.
GenomeRNAii 27295.
NextBioi 50262.
PROi Q53GG5.
SOURCEi Search...

Gene expression databases

Bgeei Q53GG5.
CleanExi HS_PDLIM3.
ExpressionAtlasi Q53GG5. baseline and differential.
Genevestigatori Q53GG5.

Family and domain databases

Gene3Di 2.10.110.10. 1 hit.
2.30.42.10. 1 hit.
InterProi IPR001478. PDZ.
IPR006643. ZASP.
IPR001781. Znf_LIM.
[Graphical view ]
Pfami PF00412. LIM. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view ]
SMARTi SM00132. LIM. 1 hit.
SM00228. PDZ. 1 hit.
SM00735. ZM. 1 hit.
[Graphical view ]
SUPFAMi SSF50156. SSF50156. 1 hit.
PROSITEi PS00478. LIM_DOMAIN_1. 1 hit.
PS50023. LIM_DOMAIN_2. 1 hit.
PS50106. PDZ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiPDLI3_HUMAN
AccessioniPrimary (citable) accession number: Q53GG5
Secondary accession number(s): B2R866
, O43590, O60439, O60440, Q8N6Y6, Q9BVP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: May 24, 2005
Last modified: October 29, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3