Pdlim3 PDZ and LIM domain 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pdlim3provided by MGI
Official Full Name: PDZ and LIM domain 3provided by MGI
Primary source: MGI:MGI:1859274
See related: Ensembl:ENSMUSG00000031636 AllianceGenome:MGI:1859274
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ALP; Actn2lp
Summary: Enables cytoskeletal protein binding activity. A structural constituent of muscle. Acts upstream of or within actin filament organization and heart development. Located in actin cytoskeleton. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; limb bud; and sensory organ. Used to study arrhythmogenic right ventricular cardiomyopathy. Orthologous to human PDLIM3 (PDZ and LIM domain 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in bladder adult (RPKM 302.3), colon adult (RPKM 44.0) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B1.1; 8 25.86 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (46338524..46372672)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (45885487..45919635)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

upon induction of muscle differentiation a nuclear translocation of smALP from the cytoplasm to the nucleus of C2C12 myoblasts, concomitant to an up-regulation of the protein expression, occurs in parallel with the nuclear accumulation of myogenin.
Title: Nuclear translocation of the cytoskeleton-associated protein, smALP, upon induction of skeletal muscle differentiation.
characterized the internal interaction site of ALP by NMR
Title: Backbone NMR assignment of the internal interaction site of ALP.
ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line
Title: The ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line.
critical role of ALP on muscle differentiation, likely via cytoskeletal regulation of SRF
Title: The cytoskeleton-associated PDZ-LIM protein, ALP, acts on serum response factor activity to regulate muscle differentiation.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation

General gene information

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Markers

AI463105 (e-PCR)
- UniSTS:179736

D8Mit175 (e-PCR), detects polymorphism
- UniSTS:131382

PMC86714P1 (e-PCR)
- UniSTS:273549

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actinin binding	ISO Inferred from Sequence Orthology more info
enables cytoskeletal protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables muscle alpha-actinin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of muscle	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of muscle	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle structure development	IBA Inferred from Biological aspect of Ancestor more info
NOT acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in Z disc	TAS Traceable Author Statement more info	PubMed
located_in actin cytoskeleton	IPI Inferred from Physical Interaction more info	PubMed
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of filamentous actin	IBA Inferred from Biological aspect of Ancestor more info
is_active_in stress fiber	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: PDZ and LIM domain protein 3

Names: actinin alpha 2 associated LIM protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001374652.2 → NP_001361581.1 PDZ and LIM domain protein 3 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC113469, AC114558

Consensus CDS

CCDS90393.1

UniProtKB/TrEMBL

A0A1B0GSX6

Related

ENSMUSP00000148113.2, ENSMUST00000210422.2

Conserved Domains (3) summary

cd09450
Location:294 → 346

LIM_ALP; This family represents the LIM domain of ALP, actinin-associated LIM protein

cd00992
Location:2 → 80

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam15936
Location:184 → 268

DUF4749; Domain of unknown function (DUF4749)
NM_016798.5 → NP_058078.1 PDZ and LIM domain protein 3 isoform 2

See identical proteins and their annotated locations for NP_058078.1

Status: VALIDATED

Source sequence(s)

AC113469, AC114558

Consensus CDS

CCDS22281.1

UniProtKB/Swiss-Prot

O70209

Related

ENSMUSP00000034053.6, ENSMUST00000034053.7

Conserved Domains (3) summary

cd09450
Location:246 → 298

LIM_ALP; This family represents the LIM domain of ALP, actinin-associated LIM protein

cd00992
Location:2 → 80

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam15936
Location:137 → 220

DUF4749; Domain of unknown function (DUF4749)