PPP4R4 - protein phosphatase 4 regulatory subunit 4 Gene

Also Known as PP4R4; CFAP14; KIAA1622

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57718

About PPP4R4

Cytogenetic location: 14q32.12-q32.13 Genomic coordinates (GRCh38): 14:94,174,322-94,279,734 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele and 199 orthologues. Biased expression in brain (RPKM 8.5), testis (RPKM 5.4) and 3 other tissues.

Summary

The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein Phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine Phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]

PPP4R4 Products (6)

mRNA	Protein	Name
NM_001348142.2	NP_001335071.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 3
NM_001348143.2	NP_001335072.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 4
NM_001348144.2	NP_001335073.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 4
NM_001348145.2	NP_001335074.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 5
NM_020958.3	NP_066009.2	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 2
NM_058237.2	NP_478144.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18715871	GOA
enables protein phosphatase regulator activity	IDA IDA: Inferred from direct assay	18715871	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18715871	GOA
part of protein serine/threonine phosphatase complex	IDA IDA: Inferred from direct assay	18715871	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

Protein Preferred Names	Protein Names
serine/threonine-protein phosphatase 4 regulatory subunit 4	HEAT-like repeat-containing protein

PPP4R4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PPP4R4	Q6NUP7	PPP4C	Homo sapiens	P60510	Anti Tag CoIP	18715871
Intra	PPP4R4	Q6NUP7	PPP4C	Homo sapiens	P60510	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spondylocarpotarsal Synostosis Syndrome	SCT Spondylocarpotarsal Syndrome Vertebral Fusion With Carpal Coalition Congenital Scoliosis With Unilateral Unsegmented Bar Congenital Synspondylism Spondylocarpotarsal Synostosis Synspondylism, Congenital Scoliosis, Congenital, With Unilateral Unsegmented Bar Scoliosis, Congenital With Unilateral Unsegmented Bar Synspondylism Congenital Sct Syndrome Synspondylism
D-Bifunctional Protein Deficiency	Bifunctional Peroxisomal Enzyme Deficiency 17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency Dbp Deficiency Peroxisomal Bifunctional Enzyme Deficiency Pbfe Deficiency Bifunctional Enzyme Deficiency Pseudo-Zellweger Syndrome Zellweger-Like Syndrome DBPD Protein Deficiency, D-Bifunctional
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11031	PPP4R4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PPP4R4	MGD	MGI:1921771
Felis catus	PPP4R4	VGNC	VGNC:64331
Bos taurus	PPP4R4	VGNC	VGNC:53947
Canis familiaris	PPP4R4	VGNC	VGNC:44924
Macaca mulatta	PPP4R4	VGNC	VGNC:76306
Rattus norvegicus	PPP4R4	RGD	RGD:1560932
Others	PPP4R4	NCBI