PDLIM1 - PDZ and LIM domain 1 Gene

Also Known as CLIM1; CLP36; CLP-36; hCLIM1; HEL-S-112

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9124

About PDLIM1

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:95,237,572-95,291,003 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues and 7 paralogues. Ubiquitous expression in small intestine (RPKM 111.6), colon (RPKM 111.5) and 24 other tissues.

Summary

This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the Cytoskeleton. The protein may function as an adapter to bring Other LIM-interacting proteins to the Cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]

PDLIM1 Products (1)

mRNA Protein Name
NM_020992.4 NP_066272.1 PDZ and LIM domain protein 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
10753915 GOA
Cellular Component GO Annotation Evidence References Source
located in Z disc IDA
IDA: Inferred from direct assay
10861853 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
10861853 GOA
located in cytoskeleton IDA
IDA: Inferred from direct assay
10861853 GOA
located in stress fiber IDA
IDA: Inferred from direct assay
11110697 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDLIM1 Protein Structure

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (5 - 81)

LIM

LIM: LIM domain (260 - 310)

  • 0
  • 100
  • 200
  • 300
  • 329 a.a.
Protein Preferred Names Protein Names

PDZ and LIM domain protein 1

  • LIM domain protein CLP-36

PDLIM1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PDLIM1 O00151 ACTN4 Homo sapiens O43707 33961781
Intra
PDLIM1 O00151 ACTN4 Homo sapiens O43707 28514442
Intra
PDLIM1 O00151 GFAP Homo sapiens P14136 31515488
Cross: Cross-species interaction Intra: Intraspecies interaction

PDLIM1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81820 PDLIM1 Antibody (YA1565) WB, ICC/IF, IP Human, Mouse, Rat
HY-P81820A PDLIM1 Antibody (YA1565)(PBS only) WB, ICC/IF, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Supravalvular Aortic Stenosis
  • SVAS

  • Supravalvar Aortic Stenosis

  • Supravalvar Aortic Stenosis, Eisenberg Type

  • Aortic Supravalvular Stenosis

  • Aortic Stenosis, Supravalvular

  • Supra-Valvular Aortic Stenosis

  • Stenosis, Aortic Supravalvular

  • Stenosis, Supravalvular Aortic

  • Supravalvular Stenosis, Aortic

  • Aortic Stenosis Supravalvular

Williams-Beuren Syndrome
  • Williams Syndrome

  • WBS

  • Wms

  • Deletion 7q11.23

  • Monosomy 7q11.23

  • Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

  • Fanconi Schlesinger Syndrome

  • Beuren Syndrome

  • Elfin Facies Syndrome

  • Elfin Facies With Hypercalcemia

  • Hypercalcemia-Supravalvar Aortic Stenosis

  • Ws

Aortic Valve Disease 2
  • Aortic Valve Stenosis

  • Aortic Stenosis

  • Rheumatic Aortic Stenosis

  • AOVD2

  • Bicuspid Aortic Valve

  • Rheumatic Aortic Valve Stenosis

  • Valvular Aortic Stenosis

  • Aortic Valve Disease, Type 2

  • Aortic Valve Stricture

  • Aortic Valve Obstruction

  • Obstructed Aorta Valve

  • Rheumatic Aortic Obstruction

  • Rheumatic Aortic Valve Obstruction

  • Rheumatic Aortic Stricture

  • Aortic Valve Regurgitation

  • Aortic Insufficiency With Stenosis

  • Rheumatic Aortic Valve Stenosis With Insufficiency

  • Rheumatic Aortic Stenosis With Incompetence

  • Rheumatic Aortic Stenosis With Regurgitation

Orthostatic Intolerance
  • Mitral Valve Prolapse

  • Neurocirculatory Asthenia

  • Mitral Valve Prolapse Syndrome

  • Irritable Heart

  • Systolic Click-Murmur Syndrome

  • Soldiers Heart

  • Cardiovascular Malfunction Arising From Mental Factors

  • Cardiovascular Neurosis

  • Da Costa'S Syndrome

  • Krishaber'S Disease

  • Barlow'S Syndrome

  • Floppy Mitral Valve

  • Mitral Leaflet Syndrome

  • Myxomatous Mitral Valve Prolapse

  • Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

  • Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

  • Orthostatic Intolerance Due To Net Deficiency

  • Pots Due To Net Deficiency

  • OI

  • Intolerance, Orthostatic

  • Mitral Valve Prolapse, Familial, X-Linked

  • Ballooning Mitral Valve

  • Barlow Syndrome

  • Flail Mitral Leaflet

  • Myxomatous Mitral Valve

  • Mitral Valve Prolapse-Click Syndrome

  • Prolapsing Mitral Valve Leaflet Syndrome

  • Billowing Mitral Valve Leaflet

  • Posterior Mitral Leaflet Deformity

  • Ballooning Posterior Leaflet Syndrome

  • Blue Valve Syndrome

  • Floppy Mitral Valve Syndrome

  • Mitral Valvular Prolapse

  • Systolic Click Syndrome

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

Familial Expansile Osteolysis
  • FEO

  • Mccabe Disease

  • Osteolysis, Familial Expansile

  • Polyostotic Osteolytic Dysplasia, Hereditary Expansile

  • Hepod

  • Expansile Osteolysis, Familial

  • Eof

  • Hereditary Expansile Polyostotic Osteolytic Dysplasia

Osteogenesis Imperfecta, Type I
  • Osteogenesis Imperfecta Type I

  • OI1

  • Oi, Type I

  • Osteogenesis Imperfecta Tarda

  • Osteogenesis Imperfecta With Blue Sclerae

  • Osteogenesis Imperfecta Type 1

  • Adair-Dighton Syndrome

  • Mild Osteogenesis Imperfecta

  • Non-Deforming Osteogenesis Imperfecta

  • Oi Type 1

  • Van Der Hoeve Syndrome

  • Classic Non-Deforming Oi With Blue Sclerae

  • Osteogenesis Imperfecta 1

  • Oi-I

  • Osteopenic Non-Fracture Syndrome

  • Osteogenesis Imperfecta, Mild

  • Osteogenesis Imperfecta

  • Lobstein'S Disease

Hemoglobin E Disease
  • Hemoglobin E

  • Hb-E Disease

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus PDLIM1 VGNC VGNC:64089
Macaca mulatta PDLIM1 VGNC VGNC:103842
Mus musculus PDLIM1 MGD MGI:1860611
Canis familiaris PDLIM1 VGNC VGNC:53007
Bos taurus PDLIM1 VGNC VGNC:32707
Rattus norvegicus PDLIM1 RGD RGD:68324
Others PDLIM1 NCBI