Seroatlas · Human Serome Atlas

EHBP1L1

EH domain-binding protein 1-like protein 1

Also known as: DKFZp762C186, EH1L1_HUMAN, TANGERIN

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

Protein identityUniProt · HPA

UniProt accession: Q8N3D4
Gene: EHBP1L1
Ensembl: ENSG00000173442
Chromosome: 11
Canonical length: 1523 aa
Protein class: Predicted intracellular proteins
Subcellular location: Vesicles,Plasma membrane

OverviewNCBI Gene

Predicted to act upstream of or within several processes, including enucleation; erythrocyte differentiation; and mitochondrion localization. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1523 residues, UniProt reviewed canonical sequence.

>Q8N3D4|EHBP1L1
     1  MTSVWKRLQR VGKRAAKFQF VACYHELVLE CTKKWQPDKL VVVWTRRNRR ICSKAHSWQP
    61  GIQNPYRGTV VWMVPENVDI SVTLYRDPHV DQYEAKEWTF IIENESKGQR KVLATAEVDL
   121  ARHAGPVPVQ VPVRLRLKPK SVKVVQAELS LTLSGVLLRE GRATDDDMQS LASLMSVKPS
   181  DVGNLDDFAE SDEDEAHGPG APEARARVPQ PDPSRELKTL CEEEEEGQGR PQQAVASPSN
   241  AEDTSPAPVS APAPPARTSR GQGSERANEA GGQVGPEAPR PPETSPEMRS SRQPAQDTAP
   301  TPAPRLRKGS DALRPPVPQG EDEVPKASGA PPAGLGSARE TQAQACPQEG TEAHGARLGP
   361  SIEDKGSGDP FGRQRLKAEE MDTEDRPEAS GVDTEPRSGG REANTKRSGV RAGEAEESSA
   421  VCQVDAEQRS KVRHVDTKGP EATGVMPEAR CRGTPEAPPR GSQGRLGVRT RDEAPSGLSL
   481  PPAEPAGHSG QLGDLEGARA AAGQEREGAE VRGGAPGIEG TGLEQGPSVG AISTRPQVSS
   541  WQGALLSTAQ GAISRGLGGW EAEAGGSGDL ETETEVVGLE VLGTQEKEVE GSGFPETRTL
   601  EIEILGALEK EAARSRVLES EVAGTAQCEG LETQETEVGV IETPGTETEV LGTQKTEAGG
   661  SGVLQTRTTI AETEVLVTQE ISGDLGPLKI EDTIQSEMLG TQETEVEASR VPESEAEGTE
   721  AKILGTQEIT ARDSGVREIE AEIAESDILV AQEIEVGLLG VLGIETGAAE GAILGTQEIA
   781  SRDSGVPGLE ADTTGIQVKE VGGSEVPEIA TGTAETEILG TQEIASRSSG VPGLESEVAG
   841  AQETEVGGSG ISGPEAGMAE ARVLMTRKTE IIVPEAEKEE AQTSGVQEAE TRVGSALKYE
   901  ALRAPVTQPR VLGSQEAKAE ISGVQGSETQ VLRVQEAEAG VWGMSEGKSG AWGAQEAEMK
   961  VLESPENKSG TFKAQEAEAG VLGNEKGKEA EGSLTEASLP EAQVASGAGA GAPRASSPEK
  1021  AEEDRRLPGS QAPPALVSSS QSLLEWCQEV TTGYRGVRIT NFTTSWRNGL AFCAILHRFY
  1081  PDKIDYASLD PLNIKQNNKQ AFDGFAALGV SRLLEPADMV LLSVPDKLIV MTYLCQIRAF
  1141  CTGQELQLVQ LEGGGGAGTY RVGSAQPSPP DDLDAGGLAQ RLRGHGAEGP QEPKEAADRA
  1201  DGAAPGVASR NAVAGRASKD GGAEAPRESR PAEVPAEGLV NGAGAPGGGG VRLRRPSVNG
  1261  EPGSVPPPRA HGSFSHVRDA DLLKKRRSRL RNSSSFSMDD PDAGAMGAAA AEGQAPDPSP
  1321  APGPPTAADS QQPPGGSSPS EEPPPSPGEE AGLQRFQDTS QYVCAELQAL EQEQRQIDGR
  1381  AAEVEMQLRS LMESGANKLQ EEVLIQEWFT LVNKKNALIR RQDQLQLLME EQDLERRFEL
  1441  LSRELRAMLA IEDWQKTSAQ QHREQLLLEE LVSLVNQRDE LVRDLDHKER IALEEDERLE
  1501  RGLEQRRRKL SRQLSRRERC VLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EHBP1L1 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): 0.59
Highest tissue expression: 240 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 240 nTPM
colon: 103 nTPM
blood vessel: 85 nTPM
urinary bladder: 71 nTPM
spleen: 69 nTPM
tongue: 66 nTPM

Single-cell type

myonuclei: 211 nCPM
neutrophils: 172 nCPM
foveolar cells: 142 nCPM
monocytes: 133 nCPM
kupffer cells: 127 nCPM
thymic myoid cells: 103 nCPM

Immune cell

neutrophil: 0.6 nTPM
intermediate monocyte: 0.4 nTPM
classical monocyte: 0.3 nTPM
gdT-cell: 0.1 nTPM
myeloid DC: 0.1 nTPM
non-classical monocyte: 0.1 nTPM

Brain region

medulla oblongata: 19 nTPM
thalamus: 18 nTPM
white matter: 17 nTPM
cerebral cortex: 15 nTPM
spinal cord: 15 nTPM
midbrain: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EHBP1L1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 296 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Non-immune hydrops fetalis

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): 0.66
gnomAD pLI: 0
gnomAD missense Z: 0.85
DepMap mean gene effect: -0.17
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EHBP1L1 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 EHBP1L1 as an antibody target. Whether an autoantibody or antibody against EHBP1L1 could matter depends on whether native EHBP1L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EHBP1L1 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 EHBP1L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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