Gene

pleca

ID

ZDB-GENE-030131-8984

Name

plectin a

Symbol

pleca Nomenclature History

Previous Names

plec (1)
fa95h11
sb:eu420
si:dkey-151c10.1
wu:fa95h11

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Description

Predicted to enable ankyrin binding activity. Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within locomotory behavior and skeletal muscle tissue development. Predicted to be located in cell projection; cytoskeleton; and membrane. Predicted to be active in several cellular components, including focal adhesion; hemidesmosome; and sarcolemma. Predicted to colocalize with intermediate filament. Is expressed in epidermis; telencephalon; and yolk syncytial layer. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy. Orthologous to human PLEC (plectin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu420 (9 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Bührdel et al., 2015
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pleca Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive limb-girdle muscular dystrophy type 2Q	Alliance	Muscular dystrophy, limb-girdle, autosomal recessive 17	613723
epidermolysis bullosa simplex Ogna type	Alliance	Epidermolysis bullosa simplex 5A, Ogna type	131950
epidermolysis bullosa simplex with muscular dystrophy	Alliance	Epidermolysis bullosa simplex 5B, with muscular dystrophy	226670
		Epidermolysis bullosa simplex 5C, with pyloric atresia	612138
		?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive	616487

Associated With pleca Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR001589	Actinin-type actin-binding domain, conserved site
Domain	IPR001452	SH3 domain
Domain	IPR001715	Calponin homology domain
Domain	IPR041573	Desmoplakin, spectrin-like domain
Domain	IPR041615	Desmoplakin, SH3 domain
Family	IPR043197	Plakin
Homologous_superfamily	IPR035915	Plakin repeat superfamily
Homologous_superfamily	IPR036872	CH domain superfamily
Repeat	IPR001101	Plectin repeat
Repeat	IPR018159	Spectrin/alpha-actinin
Repeat	IPR049538	Plectin-like, spectrin-like repeat

Domain Details Per Protein

Protein	Length	Actinin-type actin-binding domain, conserved site	Calponin homology domain	CH domain superfamily	Desmoplakin, SH3 domain	Desmoplakin, spectrin-like domain	Plakin	Plakin repeat superfamily	Plectin-like, spectrin-like repeat	Plectin repeat	SH3 domain	Spectrin/alpha-actinin
UniProtKB:A0A8M9PNG8 InterPro	4592
UniProtKB:A0A8M9PGJ1 InterPro	4597
UniProtKB:A0A8M9PRQ7 InterPro	4597
UniProtKB:E7F8G7 InterPro	4762
UniProtKB:A5WV02 InterPro	4577
UniProtKB:A0A8M9PGJ7 InterPro	4586
UniProtKB:A0A8M9PRN8 InterPro	4790
UniProtKB:A0A8M9PGI7 InterPro	4605
UniProtKB:A0A8M9PNG2 InterPro	4600
UniProtKB:A0A8M9P1X0 InterPro	4592
UniProtKB:A0A2R8PVX9 InterPro	4580
UniProtKB:A0A8M9PNE8 InterPro	4779
UniProtKB:A0A2R8RIJ1 InterPro	4599
UniProtKB:A0A8M9PB30 InterPro	4588
UniProtKB:A0A8M9PNF5 InterPro	4630
UniProtKB:A0A8M9PB27 InterPro	4599
UniProtKB:A0A8M9PB23 InterPro	4611
UniProtKB:A0A286YBE9 InterPro	4773
UniProtKB:A0A8M9PRQ0 InterPro	4604
UniProtKB:A0A8M9PGI1 InterPro	4767
UniProtKB:A0A8M9P1W1 InterPro	4778
UniProtKB:A0A8M9P1W5 InterPro	4616

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pleca-201 (1) Ensembl	Ensembl	720 nt	Select Tool ZFIN BLAST
mRNA	pleca-202 (1) Ensembl	Ensembl	17,158 nt	Select Tool ZFIN BLAST
mRNA	pleca-203 (1) Ensembl	Ensembl	15,886 nt	Select Tool ZFIN BLAST
mRNA	pleca-204 (1) Ensembl	Ensembl	643 nt	Select Tool ZFIN BLAST
mRNA	pleca-205 (1) Ensembl	Ensembl	13,710 nt	Select Tool ZFIN BLAST
mRNA	pleca-206 (1) Ensembl	Ensembl	14,813 nt	Select Tool ZFIN BLAST
mRNA	pleca-207 (1) Ensembl	Ensembl	13,800 nt	Select Tool ZFIN BLAST
mRNA	pleca-208 (1) Ensembl	Ensembl	13,743 nt	Select Tool ZFIN BLAST
mRNA	pleca-209 (1) Ensembl	Ensembl	13,872 nt	Select Tool ZFIN BLAST
mRNA	pleca-210 (1) Ensembl	Ensembl	14,988 nt	Select Tool ZFIN BLAST
mRNA	pleca-211 (1) Ensembl	Ensembl	13,764 nt	Select Tool ZFIN BLAST
mRNA	pleca-212 (1) Ensembl	Ensembl	14,150 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations