EHBP1L1 (EH domain binding protein 1 like 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 254102
Gene name EH domain binding protein 1 like 1
Gene symbol EHBP1L1
Synonyms (NCBI Gene)
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Chromosome 11
Chromosome location 11q13.1
miRNA miRNA information provided by mirtarbase database.
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT017416 hsa-miR-335-5p Microarray 18185580
MIRT026343 hsa-miR-192-5p Microarray 19074876
MIRT2217844 hsa-miR-4751 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
GO:0005768 Component Endosome IEA
GO:0016020 Component Membrane HDA 19946888
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619583 30682 ENSG00000173442
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N3D4
Protein name EH domain-binding protein 1-like protein 1
Protein function May act as Rab effector protein and play a role in vesicle trafficking.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10358 NT-C2 12 → 164 N-terminal C2 in EEIG1 and EHBP1 proteins Domain
PF00307 CH 1037 → 1142 Calponin homology (CH) domain Domain
PF12130 DUF3585 1363 → 1499 Bivalent Mical/EHBP Rab binding domain Domain
Sequence 
MTSVWKRLQRVGKRAAKFQFVACYHELVLECTKKWQPDKLVVVWTRRNRRICSKAHSWQP
GIQNPYRGTVVWMVPENVDISVTLYRDPHVDQYEAKEWTFIIENESKGQRKVLATAEVDL
ARHAGPVPVQVPVRLRLKPKSVKVVQAELSLTLSGVLLREGRATDDDMQSLASLMSVKPS
DVGNLDDFAESDEDEAHGPGAPEARARVPQPDPSRELKTLCEEEEEGQGRPQQAVASPSN
AEDTSPAPVSAPAPPARTSRGQGSERANEAGGQVGPEAPRPPETSPEMRSSRQPAQDTAP
TPAPRLRKGSDALRPPVPQGEDEVPKASGAPPAGLGSARETQAQACPQEGTEAHGARLGP
SIEDKGSGDPFGRQRLKAEEMDTEDRPEASGVDTEPRSGGREANTKRSGVRAGEAEESSA
VCQVDAEQRSKVRHVDTKGPEATGVMPEARCRGTPEAPPRGSQGRLGVRTRDEAPSGLSL
PPAEPAGHSGQLGDLEGARAAAGQEREGAEVRGGAPGIEGTGLEQGPSVGAISTRPQVSS
WQGALLSTAQGAISRGLGGWEAEAGGSGDLETETEVVGLEVLGTQEKEVEGSGFPETRTL
EIEILGALEKEAARSRVLESEVAGTAQCEGLETQETEVGVIETPGTETEVLGTQKTEAGG
SGVLQTRTTIAETEVLVTQEISGDLGPLKIEDTIQSEMLGTQETEVEASRVPESEAEGTE
AKILGTQEITARDSGVREIEAEIAESDILVAQEIEVGLLGVLGIETGAAEGAILGTQEIA
SRDSGVPGLEADTTGIQVKEVGGSEVPEIATGTAETEILGTQEIASRSSGVPGLESEVAG
AQETEVGGSGISGPEAGMAEARVLMTRKTEIIVPEAEKEEAQTSGVQEAETRVGSALKYE
ALRAPVTQPRVLGSQEAKAEISGVQGSETQVLRVQEAEAGVWGMSEGKSGAWGAQEAEMK
VLESPENKSGTFKAQEAEAGVLGNEKGKEAEGSLTEASLPEAQVASGAGAGAPRASSPEK
AEEDRRLPGSQAPPALVSSSQSLLEWCQEVTTGYRGVRITNFTTSWRNGLAFCAILHRFY
PDKIDYASLDPLNIKQNNKQAFDGFAALGVSRLLEPADMVLLSVPDKLIVMTYLCQIRAF
CTGQELQLVQLEGGGGAGTYRVGSAQPSPPDDLDAGGLAQRLRGHGAEGPQEPKEAADRA
DGAAPGVASRNAVAGRASKDGGAEAPRESRPAEVPAEGLVNGAGAPGGGGVRLRRPSVNG
EPGSVPPPRAHGSFSHVRDADLLKKRRSRLRNSSSFSMDDPDAGAMGAAAAEGQAPDPSP
APGPPTAADSQQPPGGSSPSEEPPPSPGEEAGLQRFQDTSQYVCAELQALEQEQRQIDGR
AAEVEMQLRSLMESGANKLQEEVLIQEWFTLVNKKNALIRRQDQLQLLMEEQDLERRFEL
LSRELRAMLAIEDWQKTSAQQHREQLLLEELVSLVNQRDELVRDLDHKERIALEEDERLE
RGLEQRRRKLSRQLSRRERCVLS
Sequence length 1523
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Uncertain significance rs185664667 RCV005922583
Colorectal cancer Uncertain significance rs761245957 RCV005932466
EHBP1L1-related disorder Uncertain significance rs1435178592, rs1287316066, rs757427630 RCV003427729
RCV003416717
RCV003954539
Malignant tumor of urinary bladder Uncertain significance rs185664667 RCV005922584
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 39198424
Carcinoma Renal Cell Associate 36775874
Cardiovascular Diseases Associate 39198424
Inflammation Associate 20708005
Neoplasms Associate 36775874
Plaque Atherosclerotic Associate 39198424