Seroatlas · Human Serome Atlas

PACSIN3

Protein kinase C and casein kinase substrate in neurons protein 3

Also known as: PACN3_HUMAN, SDPIII

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

Protein identityUniProt · HPA

UniProt accession: Q9UKS6
Gene: PACSIN3
Ensembl: ENSG00000165912
Chromosome: 11
Canonical length: 424 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

424 residues, UniProt reviewed canonical sequence.

>Q9UKS6|PACSIN3
     1  MAPEEDAGGE ALGGSFWEAG NYRRTVQRVE DGHRLCGDLV SCFQERARIE KAYAQQLADW
    61  ARKWRGTVEK GPQYGTLEKA WHAFFTAAER LSALHLEVRE KLQGQDSERV RAWQRGAFHR
   121  PVLGGFRESR AAEDGFRKAQ KPWLKRLKEV EASKKSYHAA RKDEKTAQTR ESHAKADSAV
   181  SQEQLRKLQE RVERCAKEAE KTKAQYEQTL AELHRYTPRY MEDMEQAFET CQAAERQRLL
   241  FFKDMLLTLH QHLDLSSSEK FHELHRDLHQ GIEAASDEED LRWWRSTHGP GMAMNWPQFE
   301  EWSLDTQRTI SRKEKGGRSP DEVTLTSIVP TRDGTAPPPQ SPGSPGTGQD EEWSDEESPR
   361  KAATGVRVRA LYDYAGQEAD ELSFRAGEEL LKMSEEDEQG WCQGQLQSGR IGLYPANYVE
   421  CVGA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PACSIN3 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.41
Highest tissue expression: 451 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 451 nTPM
tongue: 261 nTPM
heart muscle: 155 nTPM
adrenal gland: 65 nTPM
esophagus: 54 nTPM
colon: 51 nTPM

Single-cell type

esophageal apical cells: 176 nCPM
thymic myoid cells: 110 nCPM
esophageal suprabasal cells: 107 nCPM
esophageal basal cells: 102 nCPM
extravillous trophoblasts: 70 nCPM
smooth muscle cells: 66 nCPM

Immune cell

total PBMC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

white matter: 65 nTPM
medulla oblongata: 59 nTPM
basal ganglia: 45 nTPM
midbrain: 44 nTPM
pons: 41 nTPM
spinal cord: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PACSIN3.

Disease | AllUniProt

Conditions PACSIN3 is implicated in, by any mechanism.

Congenital myopathy 27 (CMYO27) MIM:621343

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 96 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital myopathy 27

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): 0.64
gnomAD pLI: 0
gnomAD missense Z: 0.78
DepMap mean gene effect: -0.08
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

InteractionsUniProt · HPA

Protein binding partners of PACSIN3 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 PACSIN3 as an antibody target. Whether an autoantibody or antibody against PACSIN3 could matter depends on whether native PACSIN3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PACSIN3 is annotated at the cell surface, where native PACSIN3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PACSIN3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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