Human Gene PHACTR4 (ENST00000373839.8) from GENCODE V44
  Description: Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 6, mRNA. (from RefSeq NM_001350161)
RefSeq Summary (NM_001048183): This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000373839.8
Gencode Gene: ENSG00000204138.13
Transcript (Including UTRs)
   Position: hg38 chr1:28,369,740-28,500,364 Size: 130,625 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg38 chr1:28,407,448-28,496,549 Size: 89,102 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:28,369,740-28,500,364)mRNA (may differ from genome)Protein (702 aa)
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OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PHAR4_HUMAN
DESCRIPTION: RecName: Full=Phosphatase and actin regulator 4;
FUNCTION: Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to dephosphorylation and subsequent activation of cofilin (COF1 or COF2) and repression of the integrin signaling through the RHO/ROCK pathway (By similarity).
SUBUNIT: Binds PPP1CA and actin (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cell projection, lamellipodium (By similarity).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the phosphatase and actin regulator family.
SIMILARITY: Contains 3 RPEL repeats.
SEQUENCE CAUTION: Sequence=AAG35507.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH68508.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB14483.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15130.1; Type=Frameshift; Positions=51; Sequence=CAH18286.1; Type=Frameshift; Positions=53;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.17 RPKM in Esophagus - Mucosa
Total median expression: 283.34 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.90124-0.394 Picture PostScript Text
3' UTR -1556.203815-0.408 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004018 - RPEL_repeat

Pfam Domains:
PF02755 - RPEL repeat

ModBase Predicted Comparative 3D Structure on Q8IZ21
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0008157 protein phosphatase 1 binding
GO:0019888 protein phosphatase regulator activity
GO:0072542 protein phosphatase activator activity

Biological Process:
GO:0001755 neural crest cell migration
GO:0001843 neural tube closure
GO:0007266 Rho protein signal transduction
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0030036 actin cytoskeleton organization
GO:0043085 positive regulation of catalytic activity
GO:0043666 regulation of phosphoprotein phosphatase activity
GO:0048484 enteric nervous system development
GO:0051726 regulation of cell cycle
GO:0061386 closure of optic fissure
GO:2001045 negative regulation of integrin-mediated signaling pathway

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0030027 lamellipodium
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  CR749449 - Homo sapiens mRNA; cDNA DKFZp686L07205 (from clone DKFZp686L07205).
AK025436 - Homo sapiens cDNA: FLJ21783 fis, clone HEP00284.
BC029266 - Homo sapiens phosphatase and actin regulator 4, mRNA (cDNA clone MGC:34186 IMAGE:4422413), complete cds.
BC016152 - Homo sapiens phosphatase and actin regulator 4, mRNA (cDNA clone IMAGE:3608342), containing frame-shift errors.
BC068508 - Homo sapiens phosphatase and actin regulator 4, mRNA (cDNA clone MGC:87269 IMAGE:4825777), complete cds.
CU688618 - Synthetic construct Homo sapiens gateway clone IMAGE:100020028 5' read PHACTR4 mRNA.
JF432272 - Synthetic construct Homo sapiens clone IMAGE:100073444 phosphatase and actin regulator 4 (PHACTR4) gene, encodes complete protein.
KJ899500 - Synthetic construct Homo sapiens clone ccsbBroadEn_08894 PHACTR4 gene, encodes complete protein.
BC021247 - Homo sapiens phosphatase and actin regulator 4, mRNA (cDNA clone MGC:20618 IMAGE:4577873), complete cds.
JD408105 - Sequence 389129 from Patent EP1572962.
JD496695 - Sequence 477719 from Patent EP1572962.
JD468676 - Sequence 449700 from Patent EP1572962.
JD436667 - Sequence 417691 from Patent EP1572962.
KJ903125 - Synthetic construct Homo sapiens clone ccsbBroadEn_12519 PHACTR4 gene, encodes complete protein.
JD096811 - Sequence 77835 from Patent EP1572962.
AK023233 - Homo sapiens cDNA FLJ13171 fis, clone NT2RP3003819.
AF130081 - Homo sapiens clone FLC0987 PRO2963 mRNA, complete cds.
AK024663 - Homo sapiens cDNA: FLJ21010 fis, clone CAE04212.
JD111816 - Sequence 92840 from Patent EP1572962.
JD381853 - Sequence 362877 from Patent EP1572962.
JD500183 - Sequence 481207 from Patent EP1572962.
JD344922 - Sequence 325946 from Patent EP1572962.
JD479609 - Sequence 460633 from Patent EP1572962.
JD080297 - Sequence 61321 from Patent EP1572962.
JD309879 - Sequence 290903 from Patent EP1572962.
JD050490 - Sequence 31514 from Patent EP1572962.
JD375266 - Sequence 356290 from Patent EP1572962.
JD135587 - Sequence 116611 from Patent EP1572962.
JD308837 - Sequence 289861 from Patent EP1572962.
JD332049 - Sequence 313073 from Patent EP1572962.
JD447727 - Sequence 428751 from Patent EP1572962.
JD085160 - Sequence 66184 from Patent EP1572962.
JD536433 - Sequence 517457 from Patent EP1572962.
JD459483 - Sequence 440507 from Patent EP1572962.
JD155824 - Sequence 136848 from Patent EP1572962.
JD366322 - Sequence 347346 from Patent EP1572962.
JD299080 - Sequence 280104 from Patent EP1572962.
JD558190 - Sequence 539214 from Patent EP1572962.
JD293178 - Sequence 274202 from Patent EP1572962.
JD293179 - Sequence 274203 from Patent EP1572962.
JD565049 - Sequence 546073 from Patent EP1572962.
JD293180 - Sequence 274204 from Patent EP1572962.
JD293181 - Sequence 274205 from Patent EP1572962.
JD270490 - Sequence 251514 from Patent EP1572962.
JD457282 - Sequence 438306 from Patent EP1572962.
JD457283 - Sequence 438307 from Patent EP1572962.
JD388638 - Sequence 369662 from Patent EP1572962.
JD513973 - Sequence 494997 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A2APK6, B9ZVW0, D3DPM3, ENST00000373839.1, ENST00000373839.2, ENST00000373839.3, ENST00000373839.4, ENST00000373839.5, ENST00000373839.6, ENST00000373839.7, NM_001350161, PHAR4_HUMAN, PRO2963, Q68DD4, Q6NUN6, Q8IZ21, Q8N384, Q9H395, Q9H6X0, Q9H8W6, uc001bpw.1, uc001bpw.2, uc001bpw.3, uc001bpw.4, uc001bpw.5
UCSC ID: ENST00000373839.8
RefSeq Accession: NM_001048183
Protein: Q8IZ21 (aka PHAR4_HUMAN)
CCDS: CCDS41294.1, CCDS41293.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.