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PHACTR1
HPA
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  • SUMMARY

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  • PHACTR1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PHACTR1
Synonyms dJ257A7.2, KIAA1733, RPEL1
Gene descriptioni

Full gene name according to HGNC.

Phosphatase and actin regulator 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 6
Cytoband p24.1
Chromosome location (bp) 12716312 - 13290446
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

13
Ensembl ENSG00000112137 (version 109)
Entrez gene 221692
HGNC HGNC:20990
UniProt Q9C0D0 (UniProt - Evidence at protein level)
neXtProt NX_Q9C0D0
GeneCards PHACTR1
Antibodypedia PHACTR1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation of PPP1CA activity 1, 2. Involved in the regulation of cortical neuron migration and dendrite arborization (By similarity).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Actin-binding, Protein phosphatase inhibitor
Gene summary (Entrez)i

Useful information about the gene from Entrez

The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PHACTR1-201
ENSP00000329880
ENST00000332995
Q9C0D0
[Direct mapping] Phosphatase and actin regulator 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0021987 [cerebral cortex development]
GO:0030036 [actin cytoskeleton organization]
GO:0031032 [actomyosin structure organization]
GO:0031532 [actin cytoskeleton reorganization]
GO:0043149 [stress fiber assembly]
GO:0045202 [synapse]
GO:0048870 [cell motility]
GO:0140059 [dendrite arborization]
GO:2001222 [regulation of neuron migration]
Show all
580 aa
66.3 kDa
No 0
PHACTR1-203
ENSP00000368639
ENST00000379335
Q4VY12
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
Show all
144 aa
17.6 kDa
No 0
PHACTR1-206
ENSP00000384760
ENST00000406205
H0Y3U1
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0031532 [actin cytoskeleton reorganization]
GO:0045202 [synapse]
Show all
182 aa
20.6 kDa
No 0
PHACTR1-207
ENSP00000412573
ENST00000434977
H0Y7G2
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0031532 [actin cytoskeleton reorganization]
GO:0045202 [synapse]
Show all
230 aa
25.6 kDa
No 0
PHACTR1-209
ENSP00000501726
ENST00000482982
A0A6Q8PFA8
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0031532 [actin cytoskeleton reorganization]
GO:0045202 [synapse]
Show all
488 aa
55.8 kDa
No 0
PHACTR1-211
ENSP00000502157
ENST00000674595
A0A6Q8PG87
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0031532 [actin cytoskeleton reorganization]
GO:0045202 [synapse]
Show all
596 aa
68.2 kDa
No 1
PHACTR1-212
ENSP00000501634
ENST00000674637
Q9C0D0
[Direct mapping] Phosphatase and actin regulator 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0021987 [cerebral cortex development]
GO:0030036 [actin cytoskeleton organization]
GO:0031032 [actomyosin structure organization]
GO:0031532 [actin cytoskeleton reorganization]
GO:0043149 [stress fiber assembly]
GO:0045202 [synapse]
GO:0048870 [cell motility]
GO:0140059 [dendrite arborization]
GO:2001222 [regulation of neuron migration]
Show all
580 aa
66.3 kDa
No 0
PHACTR1-214
ENSP00000502172
ENST00000675203
A0A6Q8PGC2
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0031532 [actin cytoskeleton reorganization]
GO:0045202 [synapse]
Show all
650 aa
73.4 kDa
No 0
PHACTR1-215
ENSP00000501921
ENST00000676159
Q9C0D0
[Direct mapping] Phosphatase and actin regulator 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0021987 [cerebral cortex development]
GO:0030036 [actin cytoskeleton organization]
GO:0031032 [actomyosin structure organization]
GO:0031532 [actin cytoskeleton reorganization]
GO:0043149 [stress fiber assembly]
GO:0045202 [synapse]
GO:0048870 [cell motility]
GO:0140059 [dendrite arborization]
GO:2001222 [regulation of neuron migration]
Show all
580 aa
66.3 kDa
No 0
PHACTR1-216
ENSP00000502037
ENST00000676234
A0A6Q8PFA8
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0031532 [actin cytoskeleton reorganization]
GO:0045202 [synapse]
Show all
488 aa
55.8 kDa
No 0
PHACTR1-218
ENSP00000509410
ENST00000687600
A0A8I5QJF9
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0031532 [actin cytoskeleton reorganization]
GO:0045202 [synapse]
Show all
557 aa
63.1 kDa
No 0
PHACTR1-221
ENSP00000509837
ENST00000689548
A0A8I5KVE0
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0031532 [actin cytoskeleton reorganization]
GO:0045202 [synapse]
Show all
534 aa
61 kDa
No 0
PHACTR1-225
ENSP00000509690
ENST00000692995
A0A6Q8PFA8
[Direct mapping] Phosphatase and actin regulator
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0004864 [protein phosphatase inhibitor activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0008157 [protein phosphatase 1 binding]
GO:0019888 [protein phosphatase regulator activity]
GO:0031532 [actin cytoskeleton reorganization]
GO:0045202 [synapse]
Show all
488 aa
55.8 kDa
No 0

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