Seroatlas · Human Serome Atlas

EFEMP1

EGF-containing fibulin-like extracellular matrix protein 1

Also known as: DHRD, FBLN3, FBLN3_HUMAN, FBNL, MTLV, S1-5

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

Protein identityUniProt · HPA

UniProt accession
Q12805
Gene
EFEMP1
Ensembl
ENSG00000115380
Chromosome
2
Canonical length
493 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location
Mitochondria
Secretome location
Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

493 residues, UniProt reviewed canonical sequence.

>Q12805|EFEMP1
     1  MLKALFLTML TLALVKSQDT EETITYTQCT DGYEWDPVRQ QCKDIDECDI VPDACKGGMK
    61  CVNHYGGYLC LPKTAQIIVN NEQPQQETQP AEGTSGATTG VVAASSMATS GVLPGGGFVA
   121  SAAAVAGPEM QTGRNNFVIR RNPADPQRIP SNPSHRIQCA AGYEQSEHNV CQDIDECTAG
   181  THNCRADQVC INLRGSFACQ CPPGYQKRGE QCVDIDECTI PPYCHQRCVN TPGSFYCQCS
   241  PGFQLAANNY TCVDINECDA SNQCAQQCYN ILGSFICQCN QGYELSSDRL NCEDIDECRT
   301  SSYLCQYQCV NEPGKFSCMC PQGYQVVRSR TCQDINECET TNECREDEMC WNYHGGFRCY
   361  PRNPCQDPYI LTPENRCVCP VSNAMCRELP QSIVYKYMSI RSDRSVPSDI FQIQATTIYA
   421  NTINTFRIKS GNENGEFYLR QTSPVSAMLV LVKSLSGPRE HIVDLEMLTV SSIGTFRTSS
   481  VLRLTIIVGP FSF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EFEMP1 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.43
Highest tissue expression
978 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 978 nTPM
  • placenta: 310 nTPM
  • choroid plexus: 300 nTPM
  • adipose tissue: 238 nTPM
  • heart muscle: 192 nTPM
  • urinary bladder: 190 nTPM

Single-cell type

  • cytotrophoblasts: 1,820 nCPM
  • syncytiotrophoblasts: 1,002 nCPM
  • migrating cytotrophoblasts: 660 nCPM
  • lymphatic endothelial cells: 569 nCPM
  • choroid plexus epithelial cells: 496 nCPM
  • astrocytes: 475 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

  • choroid plexus: 338 nTPM
  • midbrain: 220 nTPM
  • medulla oblongata: 133 nTPM
  • basal ganglia: 132 nTPM
  • hypothalamus: 120 nTPM
  • spinal cord: 112 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EFEMP1.

Disease | AllUniProt

Conditions EFEMP1 is implicated in, by any mechanism.

  • Doyne honeycomb retinal dystrophy (DHRD) MIM:126600
  • Cutis laxa, autosomal recessive, 1D (ARCL1D) MIM:620780
  • Glaucoma 1, open angle, H (GLC1H) MIM:611276

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 415 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Glaucoma of childhood
  • Glaucoma 1, open angle, H
  • Cutis laxa, autosomal recessive, type 1d
  • 14 conditions
  • Doyne honeycomb retinal dystrophy

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
1.82
DepMap mean gene effect
-0.01
DepMap dependency class
none

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 EFEMP1 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 EFEMP1 as an antibody target. Whether an autoantibody or antibody against EFEMP1 could matter depends on whether native EFEMP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EFEMP1 is annotated as secreted, so native EFEMP1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label EFEMP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EFEMP1. 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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