Seroatlas · Human Serome Atlas

ELP1

Elongator complex protein 1

Also known as: DYS, ELP1_HUMAN, IKAP, IKBKAP, IKI3, TOT1

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

Protein identityUniProt · HPA

UniProt accession: O95163
Gene: ELP1
Ensembl: ENSG00000070061
Chromosome: 9
Canonical length: 1332 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

1332 residues, UniProt reviewed canonical sequence.

>O95163|ELP1
     1  MRNLKLFRTL EFRDIQGPGN PQCFSLRTEQ GTVLIGSEHG LIEVDPVSRE VKNEVSLVAE
    61  GFLPEDGSGR IVGVQDLLDQ ESVCVATASG DVILCSLSTQ QLECVGSVAS GISVMSWSPD
   121  QELVLLATGQ QTLIMMTKDF EPILEQQIHQ DDFGESKFIT VGWGRKETQF HGSEGRQAAF
   181  QMQMHESALP WDDHRPQVTW RGDGQFFAVS VVCPETGARK VRVWNREFAL QSTSEPVAGL
   241  GPALAWKPSG SLIASTQDKP NQQDIVFFEK NGLLHGHFTL PFLKDEVKVN DLLWNADSSV
   301  LAVWLEDLQR EESSIPKTCV QLWTVGNYHW YLKQSLSFST CGKSKIVSLM WDPVTPYRLH
   361  VLCQGWHYLA YDWHWTTDRS VGDNSSDLSN VAVIDGNRVL VTVFRQTVVP PPMCTYQLLF
   421  PHPVNQVTFL AHPQKSNDLA VLDASNQISV YKCGDCPSAD PTVKLGAVGG SGFKVCLRTP
   481  HLEKRYKIQF ENNEDQDVNP LKLGLLTWIE EDVFLAVSHS EFSPRSVIHH LTAASSEMDE
   541  EHGQLNVSSS AAVDGVIISL CCNSKTKSVV LQLADGQIFK YLWESPSLAI KPWKNSGGFP
   601  VRFPYPCTQT ELAMIGEEEC VLGLTDRCRF FINDIEVASN ITSFAVYDEF LLLTTHSHTC
   661  QCFCLRDASF KTLQAGLSSN HVSHGEVLRK VERGSRIVTV VPQDTKLVLQ MPRGNLEVVH
   721  HRALVLAQIR KWLDKLMFKE AFECMRKLRI NLNLIYDHNP KVFLGNVETF IKQIDSVNHI
   781  NLFFTELKEE DVTKTMYPAP VTSSVYLSRD PDGNKIDLVC DAMRAVMESI NPHKYCLSIL
   841  TSHVKKTTPE LEIVLQKVHE LQGNAPSDPD AVSAEEALKY LLHLVDVNEL YDHSLGTYDF
   901  DLVLMVAEKS QKDPKEYLPF LNTLKKMETN YQRFTIDKYL KRYEKAIGHL SKCGPEYFPE
   961  CLNLIKDKNL YNEALKLYSP SSQQYQDISI AYGEHLMQEH MYEPAGLMFA RCGAHEKALS
  1021  AFLTCGNWKQ ALCVAAQLNF TKDQLVGLGR TLAGKLVEQR KHIDAAMVLE ECAQDYEEAV
  1081  LLLLEGAAWE EALRLVYKYN RLDIIETNVK PSILEAQKNY MAFLDSQTAT FSRHKKRLLV
  1141  VRELKEQAQQ AGLDDEVPHG QESDLFSETS SVVSGSEMSG KYSHSNSRIS ARSSKNRRKA
  1201  ERKKHSLKEG SPLEDLALLE ALSEVVQNTE NLKDEVYHIL KVLFLFEFDE QGRELQKAFE
  1261  DTLQLMERSL PEIWTLTYQQ NSATPVLGPN STANSIMASY QQQKTSVPVL DAELFIPPKI
  1321  NRRTQWKLSL LD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELP1 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): 0.27
Highest tissue expression: 28 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 28 nTPM
retina: 23 nTPM
cerebellum: 23 nTPM
pituitary gland: 21 nTPM
adrenal gland: 14 nTPM
ovary: 14 nTPM

Single-cell type

adrenal cortex cells: 330 nCPM
somatotrophs: 127 nCPM
lactotrophs: 115 nCPM
retinal pigment epithelial cells: 107 nCPM
retinal horizontal cells: 106 nCPM
thyrotrophs: 92 nCPM

Immune cell

basophil: 37 nTPM
memory CD8 T-cell: 4.6 nTPM
NK-cell: 4.5 nTPM
MAIT T-cell: 4.4 nTPM
naive CD8 T-cell: 4 nTPM
memory CD4 T-cell: 3.5 nTPM

Brain region

choroid plexus: 9.2 nTPM
pons: 8.7 nTPM
hypothalamus: 8.3 nTPM
cerebellum: 6.1 nTPM
thalamus: 6.1 nTPM
medulla oblongata: 5.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELP1.

Disease | AllUniProt

Conditions ELP1 is implicated in, by any mechanism.

Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) MIM:223900
Medulloblastoma (MDB) MIM:155255

Disease | GeneticClinVar

433 pathogenic / likely-pathogenic of 2,695 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Familial dysautonomia
Medulloblastoma
ELP1-Associated Medulloblastoma
Charcot-Marie-Tooth disease
ELP1-related disorder

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): 0.74
gnomAD pLI: 0
DepMap mean gene effect: -0.85
DepMap dependency class: common

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

tRNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

WD40/YVTN repeat-like-containing domain superfamily
Elongator complex protein 1
ELP1, first N-terminal beta-propeller
ELP1, N-terminal second beta-propeller
ELP1, TPR domain
ELP1, alpha-solenoid
ELP1, three-helical bundle
ELP1 first N-terminal beta-propeller
ELP1 N-terminal second beta-propeller
ELP1 TPR domain
ELP1 alpha-solenoid
ELP1 three-helix bundle

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ELP1 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 ELP1 as an antibody target. Whether an autoantibody or antibody against ELP1 could matter depends on whether native ELP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ELP1 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 ELP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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