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Entry version 124 (16 Oct 2019)
Sequence version 2 (01 May 2007)
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Protein

EH domain-binding protein 1-like protein 1

Gene

EHBP1L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May act as Rab effector protein and play a role in vesicle trafficking.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
EH domain-binding protein 1-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EHBP1L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30682 EHBP1L1

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N3D4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Endosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
254102

Open Targets

More...
OpenTargetsi
ENSG00000173442

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134871712

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N3D4

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EHBP1L1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
146286137

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002852041 – 1523EH domain-binding protein 1-like protein 1Add BLAST1523

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei170PhosphoserineCombined sources1
Modified residuei173PhosphoserineCombined sources1
Modified residuei191PhosphoserineCombined sources1
Modified residuei285PhosphoserineCombined sources1
Modified residuei310PhosphoserineCombined sources1
Modified residuei367PhosphoserineCombined sources1
Modified residuei430PhosphoserineCombined sources1
Modified residuei454PhosphothreonineBy similarity1
Modified residuei895PhosphoserineBy similarity1
Modified residuei964PhosphoserineCombined sources1
Modified residuei1168PhosphoserineCombined sources1
Modified residuei1257PhosphoserineCombined sources1
Modified residuei1273PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Prenylated (Probable). Farnelysation (predominant) and geranylgeranylation has been observed in vitro.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N3D4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8N3D4

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N3D4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N3D4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8N3D4

PeptideAtlas

More...
PeptideAtlasi
Q8N3D4

PRoteomics IDEntifications database

More...
PRIDEi
Q8N3D4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
71793

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N3D4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N3D4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000173442 Expressed in 167 organ(s), highest expression level in esophagus

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N3D4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N3D4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039479

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RAB8A, RAB10, RAB13 and RAB15 (in their GTP-bound forms); at least in case of RAB8A can bind 2 molecules of RAB8A simultaneously; ternary complex formation of RAB8A, RAB13 and EHBP1L1 is possible.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
129015, 19 interactors

Protein interaction database and analysis system

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IntActi
Q8N3D4, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000312671

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8N3D4

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini8 – 157C2 NT-typePROSITE-ProRule annotationAdd BLAST150
Domaini1037 – 1142Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST106
Domaini1349 – 1501bMERBPROSITE-ProRule annotation1 PublicationAdd BLAST153

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1363 – 1515Sequence analysisAdd BLAST153

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi1520 – 1523CAAX motif1 Publication4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi222 – 226Poly-Glu5
Compositional biasi561 – 890Glu-richAdd BLAST330
Compositional biasi1153 – 1158Poly-Gly6
Compositional biasi1247 – 1250Poly-Gly4
Compositional biasi1308 – 1311Poly-Ala4
Compositional biasi1316 – 1347Pro-richAdd BLAST32

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The CAAX motif is a signal for prenylation and required for endosomal colocalization with Rab8 and Rab10.1 Publication
The bivalent Mical/EHBP Rab binding (bMERB) domain, mediates binding to Rab8, Rab10, Rab10, Rab13 and Rab15 (in their GTP-bound forms).1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0035 Eukaryota
COG5069 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161027

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112349

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N3D4

Identification of Orthologs from Complete Genome Data

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OMAi
SGAPEMD

Database of Orthologous Groups

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OrthoDBi
165311at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N3D4

TreeFam database of animal gene trees

More...
TreeFami
TF105382

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00014 CH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.418.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR022735 bMERB_dom
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR029928 Ehbp1l1
IPR019448 NT-C2

The PANTHER Classification System

More...
PANTHERi
PTHR23167:SF42 PTHR23167:SF42, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00307 CH, 1 hit
PF12130 DUF3585, 1 hit
PF10358 NT-C2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00033 CH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47576 SSF47576, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51848 BMERB, 1 hit
PS51840 C2_NT, 1 hit
PS50021 CH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q8N3D4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTSVWKRLQR VGKRAAKFQF VACYHELVLE CTKKWQPDKL VVVWTRRNRR
60 70 80 90 100
ICSKAHSWQP GIQNPYRGTV VWMVPENVDI SVTLYRDPHV DQYEAKEWTF
110 120 130 140 150
IIENESKGQR KVLATAEVDL ARHAGPVPVQ VPVRLRLKPK SVKVVQAELS
160 170 180 190 200
LTLSGVLLRE GRATDDDMQS LASLMSVKPS DVGNLDDFAE SDEDEAHGPG
210 220 230 240 250
APEARARVPQ PDPSRELKTL CEEEEEGQGR PQQAVASPSN AEDTSPAPVS
260 270 280 290 300
APAPPARTSR GQGSERANEA GGQVGPEAPR PPETSPEMRS SRQPAQDTAP
310 320 330 340 350
TPAPRLRKGS DALRPPVPQG EDEVPKASGA PPAGLGSARE TQAQACPQEG
360 370 380 390 400
TEAHGARLGP SIEDKGSGDP FGRQRLKAEE MDTEDRPEAS GVDTEPRSGG
410 420 430 440 450
REANTKRSGV RAGEAEESSA VCQVDAEQRS KVRHVDTKGP EATGVMPEAR
460 470 480 490 500
CRGTPEAPPR GSQGRLGVRT RDEAPSGLSL PPAEPAGHSG QLGDLEGARA
510 520 530 540 550
AAGQEREGAE VRGGAPGIEG TGLEQGPSVG AISTRPQVSS WQGALLSTAQ
560 570 580 590 600
GAISRGLGGW EAEAGGSGDL ETETEVVGLE VLGTQEKEVE GSGFPETRTL
610 620 630 640 650
EIEILGALEK EAARSRVLES EVAGTAQCEG LETQETEVGV IETPGTETEV
660 670 680 690 700
LGTQKTEAGG SGVLQTRTTI AETEVLVTQE ISGDLGPLKI EDTIQSEMLG
710 720 730 740 750
TQETEVEASR VPESEAEGTE AKILGTQEIT ARDSGVREIE AEIAESDILV
760 770 780 790 800
AQEIEVGLLG VLGIETGAAE GAILGTQEIA SRDSGVPGLE ADTTGIQVKE
810 820 830 840 850
VGGSEVPEIA TGTAETEILG TQEIASRSSG VPGLESEVAG AQETEVGGSG
860 870 880 890 900
ISGPEAGMAE ARVLMTRKTE IIVPEAEKEE AQTSGVQEAE TRVGSALKYE
910 920 930 940 950
ALRAPVTQPR VLGSQEAKAE ISGVQGSETQ VLRVQEAEAG VWGMSEGKSG
960 970 980 990 1000
AWGAQEAEMK VLESPENKSG TFKAQEAEAG VLGNEKGKEA EGSLTEASLP
1010 1020 1030 1040 1050
EAQVASGAGA GAPRASSPEK AEEDRRLPGS QAPPALVSSS QSLLEWCQEV
1060 1070 1080 1090 1100
TTGYRGVRIT NFTTSWRNGL AFCAILHRFY PDKIDYASLD PLNIKQNNKQ
1110 1120 1130 1140 1150
AFDGFAALGV SRLLEPADMV LLSVPDKLIV MTYLCQIRAF CTGQELQLVQ
1160 1170 1180 1190 1200
LEGGGGAGTY RVGSAQPSPP DDLDAGGLAQ RLRGHGAEGP QEPKEAADRA
1210 1220 1230 1240 1250
DGAAPGVASR NAVAGRASKD GGAEAPRESR PAEVPAEGLV NGAGAPGGGG
1260 1270 1280 1290 1300
VRLRRPSVNG EPGSVPPPRA HGSFSHVRDA DLLKKRRSRL RNSSSFSMDD
1310 1320 1330 1340 1350
PDAGAMGAAA AEGQAPDPSP APGPPTAADS QQPPGGSSPS EEPPPSPGEE
1360 1370 1380 1390 1400
AGLQRFQDTS QYVCAELQAL EQEQRQIDGR AAEVEMQLRS LMESGANKLQ
1410 1420 1430 1440 1450
EEVLIQEWFT LVNKKNALIR RQDQLQLLME EQDLERRFEL LSRELRAMLA
1460 1470 1480 1490 1500
IEDWQKTSAQ QHREQLLLEE LVSLVNQRDE LVRDLDHKER IALEEDERLE
1510 1520
RGLEQRRRKL SRQLSRRERC VLS
Length:1,523
Mass (Da):161,854
Last modified:May 1, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5F0DD06B15131597
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PIH6E9PIH6_HUMAN
EH domain-binding protein 1-like pr...
EHBP1L1
670Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RQH4A0A0U1RQH4_HUMAN
EH domain-binding protein 1-like pr...
EHBP1L1
467Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDZ9H0YDZ9_HUMAN
EH domain-binding protein 1-like pr...
EHBP1L1
265Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1235P → L in CAD39093 (PubMed:17974005).Curated1
Sequence conflicti1378D → E in CAD39093 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_061645133V → L2 PublicationsCorresponds to variant dbSNP:rs1194100Ensembl.1
Natural variantiVAR_031993307R → Q1 PublicationCorresponds to variant dbSNP:rs3741380Ensembl.1
Natural variantiVAR_031994538V → G1 PublicationCorresponds to variant dbSNP:rs6591182Ensembl.1
Natural variantiVAR_031995569D → V2 PublicationsCorresponds to variant dbSNP:rs1194099Ensembl.1
Natural variantiVAR_031996599T → I. Corresponds to variant dbSNP:rs7931052Ensembl.1
Natural variantiVAR_031997648T → I. Corresponds to variant dbSNP:rs7931269Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AP001362 Genomic DNA No translation available.
AL834433 mRNA Translation: CAD39093.1
AK024451 mRNA Translation: BAB15741.1
BC024207 mRNA Translation: AAH24207.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44649.1

NCBI Reference Sequences

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RefSeqi
NP_001092879.1, NM_001099409.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000309295; ENSP00000312671; ENSG00000173442

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
254102

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:254102

UCSC genome browser

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UCSCi
uc001oeo.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP001362 Genomic DNA No translation available.
AL834433 mRNA Translation: CAD39093.1
AK024451 mRNA Translation: BAB15741.1
BC024207 mRNA Translation: AAH24207.2
CCDSiCCDS44649.1
RefSeqiNP_001092879.1, NM_001099409.1

3D structure databases

SMRiQ8N3D4
ModBaseiSearch...

Protein-protein interaction databases

BioGridi129015, 19 interactors
IntActiQ8N3D4, 4 interactors
STRINGi9606.ENSP00000312671

PTM databases

iPTMnetiQ8N3D4
PhosphoSitePlusiQ8N3D4

Polymorphism and mutation databases

BioMutaiEHBP1L1
DMDMi146286137

Proteomic databases

EPDiQ8N3D4
jPOSTiQ8N3D4
MassIVEiQ8N3D4
MaxQBiQ8N3D4
PaxDbiQ8N3D4
PeptideAtlasiQ8N3D4
PRIDEiQ8N3D4
ProteomicsDBi71793

Genome annotation databases

EnsembliENST00000309295; ENSP00000312671; ENSG00000173442
GeneIDi254102
KEGGihsa:254102
UCSCiuc001oeo.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
254102
DisGeNETi254102

GeneCards: human genes, protein and diseases

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GeneCardsi
EHBP1L1
HGNCiHGNC:30682 EHBP1L1
HPAiHPA039479
neXtProtiNX_Q8N3D4
OpenTargetsiENSG00000173442
PharmGKBiPA134871712

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0035 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00940000161027
HOGENOMiHOG000112349
InParanoidiQ8N3D4
OMAiSGAPEMD
OrthoDBi165311at2759
PhylomeDBiQ8N3D4
TreeFamiTF105382

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
EHBP1L1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
254102
PharosiQ8N3D4

Protein Ontology

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PROi
PR:Q8N3D4

Gene expression databases

BgeeiENSG00000173442 Expressed in 167 organ(s), highest expression level in esophagus
ExpressionAtlasiQ8N3D4 baseline and differential
GenevisibleiQ8N3D4 HS

Family and domain databases

CDDicd00014 CH, 1 hit
Gene3Di1.10.418.10, 1 hit
InterProiView protein in InterPro
IPR022735 bMERB_dom
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR029928 Ehbp1l1
IPR019448 NT-C2
PANTHERiPTHR23167:SF42 PTHR23167:SF42, 1 hit
PfamiView protein in Pfam
PF00307 CH, 1 hit
PF12130 DUF3585, 1 hit
PF10358 NT-C2, 1 hit
SMARTiView protein in SMART
SM00033 CH, 1 hit
SUPFAMiSSF47576 SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS51848 BMERB, 1 hit
PS51840 C2_NT, 1 hit
PS50021 CH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEH1L1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N3D4
Secondary accession number(s): Q8TB89, Q9H7M7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: October 16, 2019
This is version 124 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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