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Entry version 151 (02 Jun 2021)
Sequence version 3 (10 Feb 2009)
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Protein

EH domain-binding protein 1

Gene

EHBP1

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

Annotation score:5 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 play a role in actin reorganization. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking (PubMed:14676205, PubMed:27552051).

Required for perinuclear sorting and insulin-regulated recycling of SLC2A4/GLUT4 in adipocytes (By similarity).

By similarity1 Publication1 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>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>Keywordsi

Biological processEndocytosis, Protein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8NDI1

<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%5Fand%5Ftaxonomy%5Fsection">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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:EHBP1
Synonyms:KIAA0903, NACSIN
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 2

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:29144, EHBP1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609922, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NDI1

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000115504.14

<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

Keywords - Cellular componenti

Cytoplasm, Endosome, Membrane

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Prostate cancer, hereditary, 12 (HPC12)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
23301

MalaCards human disease database

More...
MalaCardsi
EHBP1
MIMi611868, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115504

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128394620

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NDI1, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EHBP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
223590228

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002852021 – 1231EH domain-binding protein 1Add BLAST1231

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 residuei171PhosphoserineCombined sources1
Modified residuei174PhosphoserineCombined sources1
Modified residuei177PhosphoserineCombined sources1
Modified residuei222PhosphoserineBy similarity1
Modified residuei302PhosphoserineCombined sources1
Modified residuei307PhosphoserineCombined sources1
Modified residuei335PhosphoserineCombined sources1
Modified residuei408PhosphoserineCombined sources1
Modified residuei426PhosphoserineBy similarity1
Modified residuei428PhosphoserineCombined sources1
Modified residuei432PhosphoserineCombined sources1
Modified residuei436PhosphoserineCombined sources1
Modified residuei636PhosphoserineBy similarity1
Modified residuei694PhosphothreonineCombined sources1
Modified residuei710PhosphoserineCombined sources1
Modified residuei781PhosphoserineCombined sources1
Modified residuei854PhosphoserineCombined sources1
Modified residuei964PhosphoserineCombined sources1
Modified residuei1058PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Lipoprotein, Phosphoprotein, Prenylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NDI1

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NDI1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NDI1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NDI1

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

More...
PaxDbi
Q8NDI1

PeptideAtlas

More...
PeptideAtlasi
Q8NDI1

PRoteomics IDEntifications database

More...
PRIDEi
Q8NDI1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73032 [Q8NDI1-1]
73033 [Q8NDI1-2]
73034 [Q8NDI1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NDI1

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q8NDI1

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

More...
PhosphoSitePlusi
Q8NDI1

<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
ENSG00000115504, Expressed in sural nerve and 247 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NDI1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NDI1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000115504, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with EHD1 (By similarity).

Interacts with EHD2.

Interacts with RAB8A, RAB10, RAB13 and RAB15 (in their GTP-bound forms); at least in case of RAB8A may bind 2 molecules of RAB8A simultaneously through a high and a low affinity binding site, respectively.

By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
116893, 45 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q8NDI1

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q8NDI1

Protein interaction database and analysis system

More...
IntActi
Q8NDI1, 22 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263991

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NDI1, protein

<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

Secondary structure

11231
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...
BMRBi
Q8NDI1

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

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SMRi
Q8NDI1

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q8NDI1

<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%5Fand%5Fdomains%5Fsection">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 – 158C2 NT-typePROSITE-ProRule annotationAdd BLAST151
Domaini443 – 548Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST106
Domaini1056 – 1212bMERBPROSITE-ProRule annotationAdd BLAST157

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni264 – 318DisorderedSequence analysisAdd BLAST55
Regioni358 – 440DisorderedSequence analysisAdd BLAST83
Regioni616 – 675DisorderedSequence analysisAdd BLAST60
Regioni737 – 764DisorderedSequence analysisAdd BLAST28
Regioni777 – 800DisorderedSequence analysisAdd BLAST24
Regioni837 – 865DisorderedSequence analysisAdd BLAST29
Regioni895 – 941DisorderedSequence analysisAdd BLAST47
Regioni960 – 996DisorderedSequence analysisAdd BLAST37
Regioni1025 – 1065DisorderedSequence analysisAdd BLAST41
Regioni1198 – 1231DisorderedSequence analysisAdd BLAST34

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 coili185 – 210Sequence analysisAdd BLAST26
Coiled coili808 – 879Sequence analysisAdd BLAST72
Coiled coili1076 – 1100Sequence analysisAdd BLAST25
Coiled coili1136 – 1230Sequence analysisAdd BLAST95

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>Motifi1228 – 1231CAAX 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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi296 – 316Polar residuesSequence analysisAdd BLAST21
Compositional biasi411 – 429Polar residuesSequence analysisAdd BLAST19
Compositional biasi633 – 675Polar residuesSequence analysisAdd BLAST43
Compositional biasi737 – 751Basic and acidic residuesSequence analysisAdd BLAST15
Compositional biasi837 – 853Polar residuesSequence analysisAdd BLAST17
Compositional biasi960 – 979Polar residuesSequence analysisAdd BLAST20
Compositional biasi980 – 996Basic and acidic residuesSequence analysisAdd BLAST17
Compositional biasi1027 – 1065Basic and acidic residuesSequence analysisAdd BLAST39

<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

More...
eggNOGi
KOG0035, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157597

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_004178_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NDI1

Identification of Orthologs from Complete Genome Data

More...
OMAi
GNCRIAF

Database of Orthologous Groups

More...
OrthoDBi
165311at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NDI1

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
IPR029944, EHBP1
IPR019448, NT-C2

The PANTHER Classification System

More...
PANTHERi
PTHR23167:SF43, PTHR23167:SF43, 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%5Flength">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>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NDI1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MASVWKRLQR VGKHASKFQF VASYQELMVE CTKKWQPDKL VVVWTRRSRR
60 70 80 90 100
KSSKAHSWQP GIKNPYRGVV VWPVPENIEI TVTLFKDPHA EEFEDKEWTF
110 120 130 140 150
VIENESPSGR RKALATSSIN MKQYASPMPT QTDVKLKFKP LSKKVVSAAL
160 170 180 190 200
QFSLSCIFLR EGKATDEDMQ SLASLMSMKQ ADIGNLDDFE EDNEDDDENR
210 220 230 240 250
VNQEEKAAKI TEIVNQLNAL SSLDEDQDDC IKQANMRSAK SASSSEELIN
260 270 280 290 300
KLNFLDEAEK DLATVNSNPF DDPDAAELNP FGDPDSEEPI TETASPRKTE
310 320 330 340 350
DSFYNNSYNP FKEVQTPQYL NPFDEPEAFV TIKDSPPQST KRKNIRPVDM
360 370 380 390 400
SKYLYADSSK TEEEELDESN PFYEPKSTPP PNNLVNPVQE LETERRVKRK
410 420 430 440 450
APAPPVLSPK TGVLNENTVS AGKDLSTSPK PSPIPSPVLG RKPNASQSLL
460 470 480 490 500
VWCKEVTKNY RGVKITNFTT SWRNGLSFCA ILHHFRPDLI DYKSLNPQDI
510 520 530 540 550
KENNKKAYDG FASIGISRLL EPSDMVLLAI PDKLTVMTYL YQIRAHFSGQ
560 570 580 590 600
ELNVVQIEEN SSKSTYKVGN YETDTNSSVD QEKFYAELSD LKREPELQQP
610 620 630 640 650
ISGAVDFLSQ DDSVFVNDSG VGESESEHQT PDDHLSPSTA SPYCRRTKSD
660 670 680 690 700
TEPQKSQQSS GRTSGSDDPG ICSNTDSTQA QVLLGKKRLL KAETLELSDL
710 720 730 740 750
YVSDKKKDMS PPFICEETDE QKLQTLDIGS NLEKEKLENS RSLECRSDPE
760 770 780 790 800
SPIKKTSLSP TSKLGYSYSR DLDLAKKKHA SLRQTESDPD ADRTTLNHAD
810 820 830 840 850
HSSKIVQHRL LSRQEELKER ARVLLEQARR DAALKAGNKH NTNTATPFCN
860 870 880 890 900
RQLSDQQDEE RRRQLRERAR QLIAEARSGV KMSELPSYGE MAAEKLKERS
910 920 930 940 950
KASGDENDNI EIDTNEEIPE GFVVGGGDEL TNLENDLDTP EQNSKLVDLK
960 970 980 990 1000
LKKLLEVQPQ VANSPSSAAQ KAVTESSEQD MKSGTEDLRT ERLQKTTERF
1010 1020 1030 1040 1050
RNPVVFSKDS TVRKTQLQSF SQYIENRPEM KRQRSIQEDT KKGNEEKAAI
1060 1070 1080 1090 1100
TETQRKPSED EVLNKGFKDT SQYVVGELAA LENEQKQIDT RAALVEKRLR
1110 1120 1130 1140 1150
YLMDTGRNTE EEEAMMQEWF MLVNKKNALI RRMNQLSLLE KEHDLERRYE
1160 1170 1180 1190 1200
LLNRELRAML AIEDWQKTEA QKRREQLLLD ELVALVNKRD ALVRDLDAQE
1210 1220 1230
KQAEEEDEHL ERTLEQNKGK MAKKEEKCVL Q
Length:1,231
Mass (Da):140,017
Last modified:February 10, 2009 - v3
<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:iFFF39B65BCC0FC0A
GO
Isoform 2 (identifier: Q8NDI1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     212-246: Missing.

Show »
Length:1,196
Mass (Da):136,237
Checksum:iD6675AC34EE4DEDE
GO
Isoform 3 (identifier: Q8NDI1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     212-246: Missing.
     905-940: Missing.

Show »
Length:1,160
Mass (Da):132,322
Checksum:iDD7923FE0B14AF11
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B5MC86B5MC86_HUMAN
EH domain-binding protein 1
EHBP1
310Annotation score:

Annotation score:2 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>
H7C1E6H7C1E6_HUMAN
EH domain-binding protein 1
EHBP1
154Annotation 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>
H7BZ98H7BZ98_HUMAN
EH domain-binding protein 1
EHBP1
223Annotation 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>
H7C0Q4H7C0Q4_HUMAN
EH domain-binding protein 1
EHBP1
110Annotation 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>
C9K0H9C9K0H9_HUMAN
EH domain-binding protein 1
EHBP1
95Annotation 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>
C9IYU2C9IYU2_HUMAN
EH domain-binding protein 1
EHBP1
108Annotation 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>
C9JEP1C9JEP1_HUMAN
EH domain-binding protein 1
EHBP1
77Annotation 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>
C9J268C9J268_HUMAN
EH domain-binding protein 1
EHBP1
41Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA91391 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

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 conflicti105E → V in AAH29477 (PubMed:15489334).Curated1
Sequence conflicti112K → R in AAQ97141 (Ref. 2) Curated1
Sequence conflicti112K → R in CAD38814 (PubMed:17974005).Curated1
Sequence conflicti212E → G in AAQ97141 (Ref. 2) Curated1
Sequence conflicti212E → G in CAD38814 (PubMed:17974005).Curated1
Sequence conflicti256D → V in AAQ97141 (Ref. 2) Curated1
Sequence conflicti256D → V in CAD38814 (PubMed:17974005).Curated1
Sequence conflicti342R → G in AAQ97141 (Ref. 2) Curated1
Sequence conflicti342R → G in CAD38814 (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_035913395R → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_031992755K → Q. Corresponds to variant dbSNP:rs17432615Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_024834212 – 246Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST35
Alternative sequenceiVSP_024835905 – 940Missing in isoform 3. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY531390 mRNA Translation: AAS48537.1
AY331186 mRNA Translation: AAQ97141.1
AL833968 mRNA Translation: CAD38814.1
AC007098 Genomic DNA Translation: AAY14789.1
AC009501 Genomic DNA Translation: AAY24356.1
AC092567 Genomic DNA Translation: AAX82024.1
BC029477 mRNA Translation: AAH29477.1
BC067215 mRNA Translation: AAH67215.1
AK000828 mRNA Translation: BAA91391.1 Sequence problems.
AB020710 mRNA Translation: BAA74926.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1872.1 [Q8NDI1-1]
CCDS46299.1 [Q8NDI1-2]
CCDS46300.1 [Q8NDI1-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001136086.1, NM_001142614.1 [Q8NDI1-2]
NP_001136087.1, NM_001142615.2 [Q8NDI1-3]
NP_001136088.1, NM_001142616.1 [Q8NDI1-3]
NP_056067.2, NM_015252.3 [Q8NDI1-1]
XP_005264282.1, XM_005264225.2
XP_005264283.1, XM_005264226.2 [Q8NDI1-1]
XP_005264284.1, XM_005264227.1 [Q8NDI1-2]
XP_011531015.1, XM_011532713.2
XP_011531016.1, XM_011532714.2
XP_011531017.1, XM_011532715.2 [Q8NDI1-1]
XP_016859132.1, XM_017003643.1
XP_016859133.1, XM_017003644.1
XP_016859136.1, XM_017003647.1
XP_016859137.1, XM_017003648.1
XP_016859138.1, XM_017003649.1
XP_016859140.1, XM_017003651.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263991; ENSP00000263991; ENSG00000115504 [Q8NDI1-1]
ENST00000405015; ENSP00000384143; ENSG00000115504 [Q8NDI1-3]
ENST00000405289; ENSP00000385524; ENSG00000115504 [Q8NDI1-2]
ENST00000431489; ENSP00000403783; ENSG00000115504 [Q8NDI1-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23301

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23301

UCSC genome browser

More...
UCSCi
uc002sby.4, human [Q8NDI1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY531390 mRNA Translation: AAS48537.1
AY331186 mRNA Translation: AAQ97141.1
AL833968 mRNA Translation: CAD38814.1
AC007098 Genomic DNA Translation: AAY14789.1
AC009501 Genomic DNA Translation: AAY24356.1
AC092567 Genomic DNA Translation: AAX82024.1
BC029477 mRNA Translation: AAH29477.1
BC067215 mRNA Translation: AAH67215.1
AK000828 mRNA Translation: BAA91391.1 Sequence problems.
AB020710 mRNA Translation: BAA74926.1
CCDSiCCDS1872.1 [Q8NDI1-1]
CCDS46299.1 [Q8NDI1-2]
CCDS46300.1 [Q8NDI1-3]
RefSeqiNP_001136086.1, NM_001142614.1 [Q8NDI1-2]
NP_001136087.1, NM_001142615.2 [Q8NDI1-3]
NP_001136088.1, NM_001142616.1 [Q8NDI1-3]
NP_056067.2, NM_015252.3 [Q8NDI1-1]
XP_005264282.1, XM_005264225.2
XP_005264283.1, XM_005264226.2 [Q8NDI1-1]
XP_005264284.1, XM_005264227.1 [Q8NDI1-2]
XP_011531015.1, XM_011532713.2
XP_011531016.1, XM_011532714.2
XP_011531017.1, XM_011532715.2 [Q8NDI1-1]
XP_016859132.1, XM_017003643.1
XP_016859133.1, XM_017003644.1
XP_016859136.1, XM_017003647.1
XP_016859137.1, XM_017003648.1
XP_016859138.1, XM_017003649.1
XP_016859140.1, XM_017003651.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D89NMR-A443-548[»]
6ZSHX-ray2.20A/C1060-1162[»]
B/D440-550[»]
6ZSIX-ray1.91C/D1060-1212[»]
6ZSJX-ray2.00C/D1060-1212[»]
BMRBiQ8NDI1
SMRiQ8NDI1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116893, 45 interactors
CORUMiQ8NDI1
ELMiQ8NDI1
IntActiQ8NDI1, 22 interactors
STRINGi9606.ENSP00000263991

PTM databases

iPTMnetiQ8NDI1
MetOSiteiQ8NDI1
PhosphoSitePlusiQ8NDI1

Genetic variation databases

BioMutaiEHBP1
DMDMi223590228

Proteomic databases

EPDiQ8NDI1
jPOSTiQ8NDI1
MassIVEiQ8NDI1
MaxQBiQ8NDI1
PaxDbiQ8NDI1
PeptideAtlasiQ8NDI1
PRIDEiQ8NDI1
ProteomicsDBi73032 [Q8NDI1-1]
73033 [Q8NDI1-2]
73034 [Q8NDI1-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
30724, 81 antibodies

The DNASU plasmid repository

More...
DNASUi
23301

Genome annotation databases

EnsembliENST00000263991; ENSP00000263991; ENSG00000115504 [Q8NDI1-1]
ENST00000405015; ENSP00000384143; ENSG00000115504 [Q8NDI1-3]
ENST00000405289; ENSP00000385524; ENSG00000115504 [Q8NDI1-2]
ENST00000431489; ENSP00000403783; ENSG00000115504 [Q8NDI1-3]
GeneIDi23301
KEGGihsa:23301
UCSCiuc002sby.4, human [Q8NDI1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23301
DisGeNETi23301

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EHBP1
HGNCiHGNC:29144, EHBP1
HPAiENSG00000115504, Low tissue specificity
MalaCardsiEHBP1
MIMi609922, gene
611868, phenotype
neXtProtiNX_Q8NDI1
OpenTargetsiENSG00000115504
PharmGKBiPA128394620
VEuPathDBiHostDB:ENSG00000115504.14

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0035, Eukaryota
GeneTreeiENSGT00940000157597
HOGENOMiCLU_004178_1_1_1
InParanoidiQ8NDI1
OMAiGNCRIAF
OrthoDBi165311at2759
PhylomeDBiQ8NDI1
TreeFamiTF105382

Enzyme and pathway databases

PathwayCommonsiQ8NDI1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
23301, 3 hits in 996 CRISPR screens

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

More...
ChiTaRSi
EHBP1, human
EvolutionaryTraceiQ8NDI1

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

More...
GenomeRNAii
23301
PharosiQ8NDI1, Tbio

Protein Ontology

More...
PROi
PR:Q8NDI1
RNActiQ8NDI1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115504, Expressed in sural nerve and 247 other tissues
ExpressionAtlasiQ8NDI1, baseline and differential
GenevisibleiQ8NDI1, 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
IPR029944, EHBP1
IPR019448, NT-C2
PANTHERiPTHR23167:SF43, PTHR23167:SF43, 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

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 nameiEHBP1_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: Q8NDI1
Secondary accession number(s): O94977
, Q53TG7, Q53TV6, Q580X2, Q6NX72, Q6PIT3, Q6QNV2, Q9NWI9
<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%5Fand%5Fisoforms">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: February 10, 2009
Last modified: June 2, 2021
This is version 151 of the entry and version 3 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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