Seroatlas · Human Serome Atlas

EMILIN1

EMILIN-1

Also known as: DKFZp586M121, EMIL1_HUMAN, EMILIN, gp115

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

Protein identityUniProt · HPA

UniProt accession: Q9Y6C2
Gene: EMILIN1
Ensembl: ENSG00000138080
Chromosome: 2
Canonical length: 1016 aa
Protein class: Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Secretome location: Secreted to extracellular matrix
Quaternary structure: Homotrimer

OverviewNCBI Gene

This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

1016 residues, UniProt reviewed canonical sequence.

>Q9Y6C2|EMILIN1
     1  MAPRTLWSCY LCCLLTAAAG AASYPPRGFS LYTGSSGALS PGGPQAQIAP RPASRHRNWC
    61  AYVVTRTVSC VLEDGVETYV KYQPCAWGQP QCPQSIMYRR FLRPRYRVAY KTVTDMEWRC
   121  CQGYGGDDCA ESPAPALGPA SSTPRPLARP ARPNLSGSSA GSPLSGLGGE GPGESEKVQQ
   181  LEEQVQSLTK ELQGLRGVLQ GLSGRLAEDV QRAVETAFNG RQQPADAAAR PGVHETLNEI
   241  QHQLQLLDTR VSTHDQELGH LNNHHGGSSS SGGSRAPAPA SAPPGPSEEL LRQLEQRLQE
   301  SCSVCLAGLD GFRRQQQEDR ERLRAMEKLL ASVEERQRHL AGLAVGRRPP QECCSPELGR
   361  RLAELERRLD VVAGSVTVLS GRRGTELGGA AGQGGHPPGY TSLASRLSRL EDRFNSTLGP
   421  SEEQEESWPG APGGLSHWLP AARGRLEQLG GLLANVSGEL GGRLDLLEEQ VAGAMQACGQ
   481  LCSGAPGEQD SQVSEILSAL ERRVLDSEGQ LRLVGSGLHT VEAAGEARQA TLEGLQEVVG
   541  RLQDRVDAQD ETAAEFTLRL NLTAARLGQL EGLLQAHGDE GCGACGGVQE ELGRLRDGVE
   601  RCSCPLLPPR GPGAGPGVGG PSRGPLDGFS VFGGSSGSAL QALQGELSEV ILSFSSLNDS
   661  LNELQTTVEG QGADLADLGA TKDRIISEIN RLQQEATEHA TESEERFRGL EEGQAQAGQC
   721  PSLEGRLGRL EGVCERLDTV AGGLQGLREG LSRHVAGLWA GLRETNTTSQ MQAALLEKLV
   781  GGQAGLGRRL GALNSSLQLL EDRLHQLSLK DLTGPAGEAG PPGPPGLQGP PGPAGPPGSP
   841  GKDGQEGPIG PPGPQGEQGV EGAPAAPVPQ VAFSAALSLP RSEPGTVPFD RVLLNDGGYY
   901  DPETGVFTAP LAGRYLLSAV LTGHRHEKVE AVLSRSNQGV ARVDSGGYEP EGLENKPVAE
   961  SQPSPGTLGV FSLILPLQAG DTVCVDLVMG QLAHSEEPLT IFSGALLYGD PELEHA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EMILIN1 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): 0.53
Highest tissue expression: 224 nTPM

Expression across tissuesHPA

Tissue

colon: 224 nTPM
endometrium: 203 nTPM
blood vessel: 182 nTPM
ovary: 169 nTPM
cervix: 153 nTPM
fallopian tube: 144 nTPM

Single-cell type

peritubular myoid cells: 191 nCPM
hepatic stellate cells: 181 nCPM
smooth muscle cells: 136 nCPM
leydig cells: 105 nCPM
decidual stromal cells: 98 nCPM
fibroblasts: 92 nCPM

Immune cell

plasmacytoid DC: 0.5 nTPM
eosinophil: 0.4 nTPM
T-reg: 0.2 nTPM
memory CD8 T-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM

Brain region

medulla oblongata: 25 nTPM
thalamus: 20 nTPM
white matter: 16 nTPM
spinal cord: 15 nTPM
midbrain: 14 nTPM
hypothalamus: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EMILIN1.

Disease | AllUniProt

Conditions EMILIN1 is implicated in, by any mechanism.

Neuronopathy, distal hereditary motor, autosomal dominant 10 (HMND10) MIM:620080
Arterial tortuosity-bone fragility syndrome (ATBFS) MIM:620908

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 243 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Arterial tortuosity
Arterial tortuosity-bone fragility syndrome
Neuronopathy, distal hereditary motor, autosomal dominant 10

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): 0.51
gnomAD pLI: 0
gnomAD missense Z: 1.21
DepMap mean gene effect: -0.04
DepMap dependency class: selective

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 EMILIN1 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 EMILIN1 as an antibody target. Whether an autoantibody or antibody against EMILIN1 could matter depends on whether native EMILIN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EMILIN1 is annotated as secreted, so native EMILIN1 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 EMILIN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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