Seroatlas · Human Serome Atlas

PFN1

Profilin-1

Also known as: PROF1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P07737
Gene
PFN1
Ensembl
ENSG00000108518
Chromosome
17
Canonical length
140 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]

Canonical amino-acid sequenceUniProt

140 residues, UniProt reviewed canonical sequence.

>P07737|PFN1
     1  MAGWNAYIDN LMADGTCQDA AIVGYKDSPS VWAAVPGKTF VNITPAEVGV LVGKDRSSFY
    61  VNGLTLGGQK CSVIRDSLLQ DGEFSMDLRT KSTGGAPTFN VTVTKTDKTL VLLMGKEGVH
   121  GGLINKKCYE MASHLRRSQY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PFN1 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)
0.28
Highest tissue expression
1,522 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 1,522 nTPM
  • colon: 1,460 nTPM
  • blood vessel: 1,367 nTPM
  • tonsil: 1,347 nTPM
  • spleen: 1,328 nTPM
  • lymph node: 1,269 nTPM

Single-cell type

  • extravillous trophoblasts: 6,866 nCPM
  • hofbauer cells: 4,932 nCPM
  • megakaryocytes: 4,642 nCPM
  • migrating cytotrophoblasts: 3,041 nCPM
  • neutrophil progenitors: 2,080 nCPM
  • decidual stromal cells: 2,066 nCPM

Immune cell

  • total PBMC: 23,587 nTPM
  • eosinophil: 13,955 nTPM
  • non-classical monocyte: 13,624 nTPM
  • T-reg: 11,280 nTPM
  • intermediate monocyte: 10,876 nTPM
  • myeloid DC: 9,939 nTPM

Brain region

  • thalamus: 415 nTPM
  • white matter: 376 nTPM
  • pons: 367 nTPM
  • medulla oblongata: 366 nTPM
  • cerebellum: 306 nTPM
  • spinal cord: 295 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PFN1.

Disease | AllUniProt

Conditions PFN1 is implicated in, by any mechanism.

  • Amyotrophic lateral sclerosis 18 (ALS18) MIM:614808

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 113 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Amyotrophic lateral sclerosis type 18
  • PFN1-related disorder
  • Lower limb muscle weakness
  • Neurodegeneration
  • PAGET DISEASE OF BONE 7, EARLY-ONSET

Disease | ImmuneIEDB

Conditions an epitope on PFN1 was assayed in.

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)
0.69
gnomAD pLI
0.73
gnomAD missense Z
1.95
DepMap mean gene effect
-0.69
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

InteractionsUniProt · HPA

Protein binding partners of PFN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PFN1 as an antibody target. Whether an autoantibody or antibody against PFN1 could matter depends on whether native PFN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PFN1 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 PFN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PFN1. 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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