Seroatlas · Human Serome Atlas

PSD

PH and SEC7 domain-containing protein 1

Also known as: EFA6, EFA6A, KIAA2011, PSD1, PSD1_HUMAN, TYL

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

Protein identityUniProt · HPA

UniProt accession: A5PKW4
Gene: PSD
Ensembl: ENSG00000059915
Chromosome: 10
Canonical length: 1024 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Canonical amino-acid sequenceUniProt

1024 residues, UniProt reviewed canonical sequence.

>A5PKW4|PSD
     1  MAQGAMRFCS EGDCAISPPR CPRRWLPEGP VPQSPPASMY GSTGSLLRRV AGPGPRGREL
    61  GRVTAPCTPL RGPPSPRVAP SPWAPSSPTG QPPPGAQSSV VIFRFVEKAS VRPLNGLPAP
   121  GGLSRSWDLG GVSPPRPTPA LGPGSNRKLR LEASTSDPLP ARGGSALPGS RNLVHGPPAP
   181  PQVGADGLYS SLPNGLGGPP ERLATLFGGP ADTGFLNQGD TWSSPREVSS HAQRIARAKW
   241  EFFYGSLDPP SSGAKPPEQA PPSPPGVGSR QGSGVAVGRA AKYSETDLDT VPLRCYRETD
   301  IDEVLAEREE ADSAIESQPS SEGPPGTAYP PAPRPGPLPG PHPSLGSGNE DEDDDEAGGE
   361  EDVDDEVFEA SEGARPGSRM PLKSPVPFLP GTSPSADGPD SFSCVFEAIL ESHRAKGTSY
   421  TSLASLEALA SPGPTQSPFF TFELPPQPPA PRPDPPAPAP LAPLEPDSGT SSAADGPWTQ
   481  RGEEEEAEAR AKLAPGREPP SPCHSEDSLG LGAAPLGSEP PLSQLVSDSD SELDSTERLA
   541  LGSTDTLSNG QKADLEAAQR LAKRLYRLDG FRKADVARHL GKNNDFSKLV AGEYLKFFVF
   601  TGMTLDQALR VFLKELALMG ETQERERVLA HFSQRYFQCN PEALSSEDGA HTLTCALMLL
   661  NTDLHGHNIG KRMTCGDFIG NLEGLNDGGD FPRELLKALY SSIKNEKLQW AIDEEELRRS
   721  LSELADPNPK VIKRISGGSG SGSSPFLDLT PEPGAAVYKH GALVRKVHAD PDCRKTPRGK
   781  RGWKSFHGIL KGMILYLQKE EYKPGKALSE TELKNAISIH HALATRASDY SKRPHVFYLR
   841  TADWRVFLFQ APSLEQMQSW ITRINVVAAM FSAPPFPAAV SSQKKFSRPL LPSAATRLSQ
   901  EEQVRTHEAK LKAMASELRE HRAAQLGKKG RGKEAEEQRQ KEAYLEFEKS RYSTYAALLR
   961  VKLKAGSEEL DAVEAALAQA GSTEDGLPPS HSSPSLQPKP SSQPRAQRHS SEPRPGAGSG
  1021  RRKP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PSD 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): 0.53
Highest tissue expression: 476 nTPM

Expression across tissuesHPA

Tissue

basal ganglia: 476 nTPM
hippocampal formation: 475 nTPM
amygdala: 405 nTPM
cerebral cortex: 385 nTPM
colon: 249 nTPM
urinary bladder: 117 nTPM

Single-cell type

rod photoreceptor cells: 159 nCPM
smooth muscle cells: 147 nCPM
cone photoreceptor cells: 112 nCPM
cardiomyocytes: 108 nCPM
epicardial cells: 107 nCPM
lactotrophs: 102 nCPM

Immune cell

naive CD8 T-cell: 0.1 nTPM
neutrophil: 0.1 nTPM
NK-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

cerebral cortex: 516 nTPM
hippocampal formation: 491 nTPM
amygdala: 365 nTPM
basal ganglia: 348 nTPM
white matter: 207 nTPM
hypothalamus: 178 nTPM

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): 0.34
gnomAD pLI: 0.9
gnomAD missense Z: 1.8
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 PSD in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

ACTN1

Antibody and autoantibody relevanceSeroatlas analysis

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

PSD is annotated at the cell surface, where native PSD 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 PSD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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