PDLIM5 - PDZ and LIM domain 5 Gene

Also Known as L9; ENH; LIM; ENH1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10611

About PDLIM5

Cytogenetic location: 4q22.3 Genomic coordinates (GRCh38): 4:94,451,942-94,668,223 (from NCBI)

This gene has 23 transcripts (splice variants), 281 orthologues and 7 paralogues. Broad expression in heart (RPKM 70.2), prostate (RPKM 31.5) and 23 other tissues.

Summary

This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

PDLIM5 Products (9)

mRNA Protein Name
NM_001011513.4 NP_001011513.4 PDZ and LIM domain protein 5 isoform b
NM_001011515.3 NP_001011515.1 PDZ and LIM domain protein 5 isoform d
NM_001011516.3 NP_001011516.1 PDZ and LIM domain protein 5 isoform e
NM_001256425.2 NP_001243354.2 PDZ and LIM domain protein 5 isoform c
NM_001256426.2 NP_001243355.2 PDZ and LIM domain protein 5 isoform f
NM_001256427.2 NP_001243356.2 PDZ and LIM domain protein 5 isoform g
NM_001256428.2 NP_001243357.2 PDZ and LIM domain protein 5 isoform h
NM_001256429.2 NP_001243358.1 PDZ and LIM domain protein 5 isoform i
NM_006457.5 NP_006448.5 PDZ and LIM domain protein 5 isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16549780 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

PDLIM5 Protein Structure

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (10 - 82)

LIM

LIM: LIM domain (420 - 473)

LIM

LIM: LIM domain (479 - 533)

LIM

LIM: LIM domain (538 - 590)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 596 a.a.
Protein Preferred Names Protein Names

PDZ and LIM domain protein 5

  • enigma homolog

PDLIM5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PDLIM5 Q96HC4 CCDC136 Homo sapiens Q96JN2-2 25416956
Intra
PDLIM5 Q96HC4 KRT40 Homo sapiens Q6A162 25416956
Intra
PDLIM5 Q96HC4 KRTAP10-7 Homo sapiens P60409 25416956
Intra
PDLIM5 Q96HC4 JPH3 Homo sapiens Q8WXH2 32814053
Intra
PDLIM5 Q96HC4 JPH3 Homo sapiens Q8WXH2 32814053
Intra
PDLIM5 Q96HC4 JPH3 Homo sapiens Q8WXH2 32814053
Intra
PDLIM5 Q96HC4 ZYX Homo sapiens Q15942 25416956
Intra
PDLIM5 Q96HC4 ID2 Homo sapiens Q02363 16549780
Intra
PDLIM5 Q96HC4 ID2 Homo sapiens Q02363 16549780
Intra
PDLIM5 Q96HC4 ID2 Homo sapiens Q02363 16549780
Intra
PDLIM5 Q96HC4 GFAP Homo sapiens P14136 32814053
Intra
PDLIM5 Q96HC4 GFAP Homo sapiens P14136 32814053
Intra
PDLIM5 Q96HC4 GFAP Homo sapiens P14136 32814053
Intra
PDLIM5 Q96HC4 COIL Homo sapiens P38432 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Nail-Patella Syndrome
  • Turner-Kieser Syndrome

  • Onychoosteodysplasia

  • Fong Disease

  • NPS

  • Hereditary Onycho-Osteodysplasia

  • Nps1

  • Hereditary Onychoostedysplasia

  • Iliac Horn Syndrome

  • Nail Patella Syndrome

  • Turner-Kiser Syndrome

  • Arthro-Onychodysplasia

  • Nps 1

  • Osteo-Onychodysplasia

  • Hereditary Osteo-Onychodysplasia

  • Osterreicher Syndrome

  • Pelvic Horn Syndrome

  • Österreicher-Turner Syndrome

  • Nps - [Nail-Patella Syndrome]

  • Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Lissencephaly 3
  • LIS3

  • Lissencephaly Due To Tuba1a Mutation

  • Lissencephaly Type 3

  • Lissencephaly, Type 3

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Major Depressive Disorder
  • Seasonal Affective Disorder

  • Unipolar Depression

  • Depression

  • MDD

  • Depressive Disorder

  • Unipolar Depression, Susceptibility To

  • Major Depressive Disorder 1

  • Major Depressive Disorder, Response To Citalopram Therapy In

  • Major Depressive Disorder 2

  • Winter Depression

  • Single Major Depressive Episode

  • Sad

  • Clinical Depression

  • Major Depression

  • Depressive Syndrome

  • Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

  • Seasonal Affective Disorder, Susceptibility To

  • Recurrent Major Depression

  • Affective Disorder, Seasonal

  • Depression In A Seasonal Pattern

  • Depression

  • Seasonal

  • Major Depressive Disorder With A Seasonal Pattern

  • Seasonal Depression

  • Seasonal Mood Disorder

  • Mental Depression

  • Recurrent Major Depressive Episodes

Precursor T-Cell Acute Lymphoblastic Leukemia
  • T-All

  • Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

  • Precursor T-Cell Acute Lymphocytic Leukemia

  • Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Adult T-Cell Lymphoma/Leukemia

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

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
Bos taurus PDLIM5 VGNC VGNC:32711
Felis catus PDLIM5 VGNC VGNC:64092
Macaca mulatta PDLIM5 VGNC VGNC:75816
Canis familiaris PDLIM5 VGNC VGNC:44387
Rattus norvegicus PDLIM5 RGD RGD:621076
Mus musculus PDLIM5 MGD MGI:1927489
Others PDLIM5 NCBI