Seroatlas · Human Serome Atlas

ELFN1

Protein ELFN1

Also known as: ELFN1_HUMAN, PPP1R28

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

Protein identityUniProt · HPA

UniProt accession
P0C7U0
Gene
ELFN1
Ensembl
ENSG00000225968
Chromosome
7
Canonical length
828 aa
Protein class
Predicted membrane proteins
Subcellular location
Nucleoplasm,Cell Junctions

OverviewNCBI Gene

Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in synapse organization. Predicted to act upstream of or within several processes, including chemical synaptic transmission; synapse assembly; and visual perception. Predicted to be located in dendrite and excitatory synapse. Predicted to be active in several cellular components, including axon terminus; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

828 residues, UniProt reviewed canonical sequence.

>P0C7U0|ELFN1
     1  MAGRGWGALW VCVAAATLLH AGGLARADCW LIEGDKGFVW LAICSQNQPP YEAIPQQINS
    61  TIVDLRLNEN RIRSVQYASL SRFGNLTYLN LTKNEIGYIE DGAFSGQFNL QVLQLGYNRL
   121  RNLTEGMLRG LGKLEYLYLQ ANLIEVVMAS SFWECPNIVN IDLSMNRIQQ LNSGTFAGLA
   181  KLSVCELYSN PFYCSCELLG FLRWLAAFTN ATQTYDRMQC ESPPVYSGYY LLGQGRRGHR
   241  SILSKLQSVC TEDSYAAEVV GPPRPASGRS QPGRSPPPPP PPEPSDMPCA DDECFSGDGT
   301  TPLVALPTLA TQAEARPLIK VKQLTQNSAT ITVQLPSPFH RMYTLEHFNN SKASTVSRLT
   361  KAQEEIRLTN LFTLTNYTYC VVSTSAGLRH NHTCLTICLP RLPSPPGPVP SPSTATHYIM
   421  TILGCLFGMV LVLGAVYYCL RRRRRQEEKH KKAASAAAAG SLKKTIIELK YGPELEAPGL
   481  APLSQGPLLG PEAVTRIPYL PAAGEVEQYK LVESADTPKA SKGSYMEVRT GDPPERRDCE
   541  LGRPGPDSQS SVAEISTIAK EVDKVNQIIN NCIDALKSES TSFQGVKSGP VSVAEPPLVL
   601  LSEPLAAKHG FLAPGYKDAF GHSLQRHHSV EAAGPPRAST SSSGSVRSPR AFRAEAVGVH
   661  KAAAAEAKYI EKGSPAADAI LTVTPAAAVL RAEAEKGRQY GEHRHSYPGS HPAEPPAPPG
   721  PPPPPPHEGL GRKASILEPL TRPRPRDLAY SQLSPQYHSL SYSSSPEYTC RASQSIWERF
   781  RLSRRRHKEE EEFMAAGHAL RKKVQFAKDE DLHDILDYWK GVSAQHKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELFN1 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
1
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • liver: 13 nTPM
  • heart muscle: 3.9 nTPM
  • kidney: 3.2 nTPM
  • cerebral cortex: 2.9 nTPM
  • cervix: 2.9 nTPM
  • retina: 2.7 nTPM

Single-cell type

  • cone photoreceptor cells: 62 nCPM
  • rod photoreceptor cells: 36 nCPM
  • retinal ganglion cells: 23 nCPM
  • late spermatids: 18 nCPM
  • hepatocytes: 17 nCPM
  • early spermatids: 15 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • spinal cord: 21 nTPM
  • cerebral cortex: 15 nTPM
  • midbrain: 14 nTPM
  • hypothalamus: 14 nTPM
  • pons: 11 nTPM
  • medulla oblongata: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELFN1.

Disease | AllUniProt

Conditions ELFN1 is implicated in, by any mechanism.

  • Dursun-Ozgul neurodevelopmental syndrome (DONDS) MIM:621344

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 209 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Dursun-Ozgul neurodevelopmental syndrome
  • Developmental and Epileptic Encephalopathy with Joint Laxity

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)
0.15
gnomAD pLI
1
gnomAD missense Z
2.44
DepMap mean gene effect
-0.02
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 ELFN1 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 ELFN1 as an antibody target. Whether an autoantibody or antibody against ELFN1 could matter depends on whether native ELFN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ELFN1 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 ELFN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ELFN1. 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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