PPEF1 - protein phosphatase with EF-hand domain 1 Gene

Homo sapiens

Also known as PP7; PPEF; PPP7C; PPP7CA

Gene ID: 5475 | Gene type: protein coding

About PPEF1

Cytogenetic location: Xp22.13 Genomic coordinates (GRCh38): X:18,675,067-18,827,917 (from NCBI)

This gene has 10 transcripts (splice variants), 228 orthologues and 12 paralogues. Biased expression in testis (RPKM 8.3) and brain (RPKM 1.3).

Summary

This gene encodes a member of the serine/threonine protein Phosphatase with EF-hand motif family. The protein contains a protein Phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008]

PPEF1 Products(14)

mRNA	Protein	Name
NM_001377986.2	NP_001364915.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001377993.1	NP_001364922.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001377994.1	NP_001364923.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 2
NM_001377995.1	NP_001364924.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 4
NM_001377996.1	NP_001364925.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001378381.1	NP_001365310.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001378382.1	NP_001365311.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 5
NM_001389620.1	NP_001376549.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001389621.1	NP_001376550.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001389623.1	NP_001376552.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 3
NM_001389624.1	NP_001376553.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 4
NM_006240.4	NP_006231.2	serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_152224.2	NP_689410.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 1b
NM_152226.2	NP_689412.1	serine/threonine-protein phosphatase with EF-hands 1 isoform 3

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12051765	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

PPEF1 Protein Structure

PPP5

Metallophos

EF-hand_7

0
100
200
300
400
500
600
653 a.a.

Protein Preferred Names

Protein Names

serine/threonine-protein phosphatase with EF-hands 1

protein phosphatase 7, catalytic subunit, alpha isozyme

PPEF1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PPEF1	O14829	NEK7	Homo sapiens	Q8TDX7	Validated Y2H	32814053
Intra	PPEF1	O14829	NEK7	Homo sapiens	Q8TDX7	Y2H Array	32814053
Intra	PPEF1	O14829	NEK7	Homo sapiens	Q8TDX7	Y2H Pooling	32814053
Intra	PPEF1	O14829	AHCYL1	Homo sapiens	O43865	Validated Y2H	32814053
Intra	PPEF1	O14829	AHCYL1	Homo sapiens	O43865	Y2H Pooling	32814053
Intra	PPEF1	O14829	AHCYL1	Homo sapiens	O43865	Y2H Array	32814053
Intra	PPEF1	O14829	DLST	Homo sapiens	P36957	Y2H Array	32814053
Intra	PPEF1	O14829	DLST	Homo sapiens	P36957	Y2H Pooling	32814053
Intra	PPEF1	O14829	DLST	Homo sapiens	P36957	Validated Y2H	32814053
Cross	PPEF1	O14829	Calm1	Mus musculus	P0DP27	Y2H	12051765
Cross	PPEF1	O14829	Calm1	Mus musculus	P0DP27	SPR	12051765

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Retinal Degeneration

Degeneration Of Retina

Retinitis Pigmentosa 4

RP4	Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive
Retinitis Pigmentosa, Rhodopsin-Related	Retinitis Pigmentosa, Type 4

Pineal Parenchymal Tumor Of Intermediate Differentiation

Pineal Parenchymal Tumour Of Intermediate Differentiation	Pineal Parenchymal Tumors Of Intermediate Differentiation
Pptid

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10937	PPEF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PPEF1	MGD	MGI:1097157
Felis catus	PPEF1	VGNC	VGNC:68981
Rattus norvegicus	PPEF1	RGD	RGD:1562772
Canis familiaris	PPEF1	VGNC	VGNC:44842
Macaca mulatta	PPEF1	VGNC	VGNC:76232
Bos taurus	PPEF1	VGNC	VGNC:33190

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