Seroatlas · Human Serome Atlas

EML1

Echinoderm microtubule-associated protein-like 1

Also known as: ELP79, EMAL1_HUMAN, EMAP, EMAPL, HuEMAP

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

Protein identityUniProt · HPA

UniProt accession
O00423
Gene
EML1
Ensembl
ENSG00000066629
Chromosome
14
Canonical length
815 aa
Protein class
Disease related genes, Predicted intracellular proteins
Quaternary structure
Homotrimer

OverviewNCBI Gene

Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

815 residues, UniProt reviewed canonical sequence.

>O00423|EML1
     1  MEDGFSSYSS LYDTSSLLQF CNDDSASAAS SMEVTDRIAS LEQRVQMQED DIQLLKSALA
    61  DVVRRLNITE EQQAVLNRKG PTKARPLMQT LPLRTTVNNG TVLPKKPTGS LPSPSGVRKE
   121  TAVPATKSNI KRTSSSERVS PGGRRESNGD SRGNRNRTGS TSSSSSGKKN SESKPKEPVF
   181  SAEEGYVKMF LRGRPVTMYM PKDQVDSYSL EAKVELPTKR LKLEWVYGYR GRDCRNNLYL
   241  LPTGETVYFI ASVVVLYNVE EQLQRHYAGH NDDVKCLAVH PDRITIATGQ VAGTSKDGKQ
   301  LPPHVRIWDS VTLNTLHVIG IGFFDRAVTC IAFSKSNGGT NLCAVDDSND HVLSVWDWQK
   361  EEKLADVKCS NEAVFAADFH PTDTNIIVTC GKSHLYFWTL EGSSLNKKQG LFEKQEKPKF
   421  VLCVTFSENG DTITGDSSGN ILVWGKGTNR ISYAVQGAHE GGIFALCMLR DGTLVSGGGK
   481  DRKLISWSGN YQKLRKTEIP EQFGPIRTVA EGKGDVILIG TTRNFVLQGT LSGDFTPITQ
   541  GHTDELWGLA IHASKSQFLT CGHDKHATLW DAVGHRPVWD KIIEDPAQSS GFHPSGSVVA
   601  VGTLTGRWFV FDTETKDLVT VHTDGNEQLS VMRYSPDGNF LAIGSHDNCI YIYGVSDNGR
   661  KYTRVGKCSG HSSFITHLDW SVNSQFLVSN SGDYEILYWV PSACKQVVSV ETTRDIEWAT
   721  YTCTLGFHVF GVWPEGSDGT DINAVCRAHE KKLLSTGDDF GKVHLFSYPC SQFRAPSHIY
   781  GGHSSHVTNV DFLCEDSHLI STGGKDTSIM QWRVI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EML1 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
0
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
53 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 53 nTPM
  • retina: 49 nTPM
  • colon: 33 nTPM
  • tongue: 31 nTPM
  • smooth muscle: 28 nTPM
  • parathyroid gland: 27 nTPM

Single-cell type

  • rod photoreceptor cells: 437 nCPM
  • cone photoreceptor cells: 431 nCPM
  • retinal ganglion cells: 147 nCPM
  • microglia: 144 nCPM
  • brain inhibitory neurons: 141 nCPM
  • vascular endothelial cells: 131 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

  • basal ganglia: 80 nTPM
  • white matter: 76 nTPM
  • choroid plexus: 48 nTPM
  • pons: 37 nTPM
  • medulla oblongata: 33 nTPM
  • thalamus: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EML1.

Disease | AllUniProt

Conditions EML1 is implicated in, by any mechanism.

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 250 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Band heterotopia of brain

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)
0.28
gnomAD pLI
1
gnomAD missense Z
2.45
DepMap mean gene effect
-0.07
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 EML1 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 EML1 as an antibody target. Whether an autoantibody or antibody against EML1 could matter depends on whether native EML1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EML1 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 EML1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EML1. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...