Format

Send to:

Choose Destination

PPEF1 protein phosphatase with EF-hand domain 1 [ Homo sapiens (human) ]

Gene ID: 5475, updated on 8-Jul-2021

Summary

Official Symbol
PPEF1provided by HGNC
Official Full Name
protein phosphatase with EF-hand domain 1provided by HGNC
Primary source
HGNC:HGNC:9243
See related
Ensembl:ENSG00000086717 MIM:300109
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PP7; PPEF; PPP7C; PPP7CA
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]
Expression
Biased expression in testis (RPKM 8.3) and brain (RPKM 1.3) See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PPEF1 in Genome Data Viewer
Location:
Xp22.13
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (18675067..18827921)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (18693187..18846035)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cyclin dependent kinase like 5 Neighboring gene tRNA-Val (anticodon TAC) 1-2 Neighboring gene retinoschisin 1 Neighboring gene PPEF1 antisense RNA 1 Neighboring gene BLOC1S6 pseudogene 1 Neighboring gene HAUS augmin like complex subunit 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
 
enables manganese ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein threonine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in detection of stimulus involved in sensory perception IEA
Inferred from Electronic Annotation
more info
 
involved_in protein dephosphorylation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
serine/threonine-protein phosphatase with EF-hands 1
Names
protein phosphatase 7, catalytic subunit, alpha isozyme
protein phosphatase with EF calcium-binding domain
protein phosphatase, EF-hand calcium binding domain 1
protein phosphatase, serine/threonine type, with EF-hands
serine/threonine protein phosphatase 7
NP_001364915.1
NP_001364922.1
NP_001364923.1
NP_001364924.1
NP_001364925.1
NP_001365310.1
NP_001365311.1
NP_001376549.1
NP_001376550.1
NP_001376552.1
NP_001376553.1
NP_006231.2
NP_689410.1
NP_689412.1
XP_016885101.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012519.1 RefSeqGene

    Range
    5001..141991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001377986.2NP_001364915.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Conserved Domains (3) summary
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    cd07420
    Location:115452
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:568636
    EF-hand_7; EF-hand domain pair
  2. NM_001377993.1NP_001364922.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Conserved Domains (3) summary
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    cd07420
    Location:115452
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:568636
    EF-hand_7; EF-hand domain pair
  3. NM_001377994.1NP_001364923.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Conserved Domains (2) summary
    cd07420
    Location:50387
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:503571
    EF-hand_7; EF-hand domain pair
  4. NM_001377995.1NP_001364924.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Conserved Domains (3) summary
    PTZ00183
    Location:395543
    PTZ00183; centrin; Provisional
    cd07420
    Location:25362
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:478546
    EF-hand_7; EF-hand domain pair
  5. NM_001377996.1NP_001364925.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Related
    ENST00000379962.3
    Conserved Domains (3) summary
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    cd07420
    Location:115452
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:568636
    EF-hand_7; EF-hand domain pair
  6. NM_001378381.1NP_001365310.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Conserved Domains (3) summary
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    cd07420
    Location:115452
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:568636
    EF-hand_7; EF-hand domain pair
  7. NM_001378382.1NP_001365311.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Conserved Domains (4) summary
    PTZ00183
    Location:393541
    PTZ00183; centrin; Provisional
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    pfam13499
    Location:476544
    EF-hand_7; EF-hand domain pair
    cl13995
    Location:79360
    MPP_superfamily; metallophosphatase superfamily, metallophosphatase domain
  8. NM_001389620.1NP_001376549.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Conserved Domains (3) summary
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    cd07420
    Location:115452
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:568636
    EF-hand_7; EF-hand domain pair
  9. NM_001389621.1NP_001376550.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Conserved Domains (3) summary
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    cd07420
    Location:115452
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:568636
    EF-hand_7; EF-hand domain pair
  10. NM_001389623.1NP_001376552.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Conserved Domains (3) summary
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    pfam13499
    Location:506574
    EF-hand_7; EF-hand domain pair
    cl13995
    Location:115390
    MPP_superfamily; metallophosphatase superfamily, metallophosphatase domain
  11. NM_001389624.1NP_001376553.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL096700, Z94056
    Conserved Domains (3) summary
    PTZ00183
    Location:395543
    PTZ00183; centrin; Provisional
    cd07420
    Location:25362
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:478546
    EF-hand_7; EF-hand domain pair
  12. NM_006240.4NP_006231.2  serine/threonine-protein phosphatase with EF-hands 1 isoform 1

    See identical proteins and their annotated locations for NP_006231.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (1).
    Source sequence(s)
    AL096700, Z94056
    Consensus CDS
    CCDS14188.1
    UniProtKB/Swiss-Prot
    O14829
    UniProtKB/TrEMBL
    A0A024RBZ9
    Related
    ENSP00000354871.3, ENST00000361511.8
    Conserved Domains (3) summary
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    cd07420
    Location:115452
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:568636
    EF-hand_7; EF-hand domain pair
  13. NM_152224.2NP_689410.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 1b

    See identical proteins and their annotated locations for NP_689410.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1b) uses an alternate in-frame splice site compared to variant 1, resulting in an isoform (1b) that lacks an internal segment compared to isoform 1. Isoform 1b contains a catalytic domain and two EF-hand motifs. Its functional significance is unknown.
    Source sequence(s)
    AL096700, Z94056
    UniProtKB/Swiss-Prot
    O14829
    Conserved Domains (5) summary
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    smart00156
    Location:134427
    PP2Ac; Protein phosphatase 2A homologues, catalytic domain
    cd00051
    Location:542607
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd07420
    Location:115424
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:546607
    EF-hand_7; EF-hand domain pair
  14. NM_152226.2NP_689412.1  serine/threonine-protein phosphatase with EF-hands 1 isoform 3

    See identical proteins and their annotated locations for NP_689412.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the coding region compared to variant 1, resulting in an isoform (3) that is missing an internal segment compared to isoform 1. Isoform 3 contains a catalytic domain and two EF-hand motifs. Its functional significance is unknown.
    Source sequence(s)
    AL096700, Z94056
    Consensus CDS
    CCDS43920.1
    UniProtKB/Swiss-Prot
    O14829
    Related
    ENSP00000341892.5, ENST00000349874.9
    Conserved Domains (3) summary
    smart00015
    Location:1837
    IQ; Calmodulin-binding motif
    pfam13499
    Location:506574
    EF-hand_7; EF-hand domain pair
    cl13995
    Location:115390
    MPP_superfamily; metallophosphatase superfamily, metallophosphatase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    18675067..18827921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029612.1XP_016885101.1  serine/threonine-protein phosphatase with EF-hands 1 isoform X1

    Conserved Domains (3) summary
    PTZ00183
    Location:395543
    PTZ00183; centrin; Provisional
    cd07420
    Location:25362
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:478546
    EF-hand_7; EF-hand domain pair

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152223.1: Suppressed sequence

    Description
    NM_152223.1: This RefSeq was permanently suppressed because it contains the wrong CDS. Annotation of the correct CDS causes this transcript to be a candidate for nonsense-mediated mRNA decay (NMD).
  2. NM_152225.1: Suppressed sequence

    Description
    NM_152225.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Support Center