Seroatlas · Human Serome Atlas

PHACTR1

Phosphatase and actin regulator 1

Also known as: dJ257A7.2, KIAA1733, PHAR1_HUMAN, RPEL1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9C0D0
Gene
PHACTR1
Ensembl
ENSG00000112137
Chromosome
6
Canonical length
580 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Plasma membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

580 residues, UniProt reviewed canonical sequence.

>Q9C0D0|PHACTR1
     1  MDYPKMDYFL DVESAHRLLD VESAQRFFYS QGAQARRATL LLPPTLMAAS SEDDIDRRPI
    61  RRVRSKSDTP YLAEARISFN LGAAEEVERL AAMRSDSLVP GTHTPPIRRR SKFANLGRIF
   121  KPWKWRKKKS EKFKHTSAAL ERKISMRQSR EELIKRGVLK EIYDKDGELS ISNEEDSLEN
   181  GQSLSSSQLS LPALSEMEPV PMPRDPCSYE VLQPSDIMDG PDPGAPVKLP CLPVKLSPPL
   241  PPKKVMICMP VGGPDLSLVS YTAQKSGQQG VAQHHHTVLP SQIQHQLQYG SHGQHLPSTT
   301  GSLPMHPSGC RMIDELNKTL AMTMQRLESS EQRVPCSTSY HSSGLHSGDG VTKAGPMGLP
   361  EIRQVPTVVI ECDDNKENVP HESDYEDSSC LYTREEEEEE EDEDDDSSLY TSSLAMKVCR
   421  KDSLAIKLSN RPSKRELEEK NILPRQTDEE RLELRQQIGT KLTRRLSQRP TAEELEQRNI
   481  LKPRNEQEEQ EEKREIKRRL TRKLSQRPTV EELRERKILI RFSDYVEVAD AQDYDRRADK
   541  PWTRLTAADK AAIRKELNEF KSTEMEVHEL SRHLTRFHRP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHACTR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.63
Highest tissue expression
26 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 26 nTPM
  • bone marrow: 22 nTPM
  • tonsil: 15 nTPM
  • heart muscle: 14 nTPM
  • lung: 13 nTPM
  • lymph node: 9.4 nTPM

Single-cell type

  • brain inhibitory neurons: 3,936 nCPM
  • thyrotrophs: 1,800 nCPM
  • brain excitatory neurons: 1,327 nCPM
  • cardiomyocytes: 1,321 nCPM
  • neutrophils: 1,134 nCPM
  • somatotrophs: 1,070 nCPM

Immune cell

  • plasmacytoid DC: 19 nTPM
  • neutrophil: 16 nTPM
  • memory B-cell: 6.9 nTPM
  • naive B-cell: 6.8 nTPM
  • myeloid DC: 3.4 nTPM
  • eosinophil: 1.7 nTPM

Brain region

  • basal ganglia: 188 nTPM
  • cerebral cortex: 162 nTPM
  • white matter: 108 nTPM
  • hippocampal formation: 108 nTPM
  • amygdala: 81 nTPM
  • hypothalamus: 75 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PHACTR1.

Disease | AllUniProt

Conditions PHACTR1 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 70 (DEE70) MIM:618298

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 156 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Developmental and epileptic encephalopathy, 70

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.92
gnomAD pLI
0.64
gnomAD missense Z
0.71
DepMap mean gene effect
0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PHACTR1 as an antibody target. Whether an autoantibody or antibody against PHACTR1 could matter depends on whether native PHACTR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PHACTR1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PHACTR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PHACTR1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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