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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-Experimental evidence at protein leveli

Functioni

May play a role in actin reorganization. Links clathrin-mediated endocytosis to the actin cytoskeleton.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
EH domain-binding protein 1
Gene namesi
Name:EHBP1
Synonyms:KIAA0903, NACSIN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:29144. EHBP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Prostate cancer, hereditary, 12 (HPC12)1 Publication
Disease susceptibility is associated with variations 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.
See also OMIM:611868

Organism-specific databases

DisGeNETi23301.
MalaCardsiEHBP1.
MIMi611868. phenotype.
OpenTargetsiENSG00000115504.
PharmGKBiPA128394620.

Polymorphism and mutation databases

BioMutaiEHBP1.
DMDMi223590228.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002852021 – 1231EH domain-binding protein 1Add BLAST1231

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NDI1.
MaxQBiQ8NDI1.
PaxDbiQ8NDI1.
PeptideAtlasiQ8NDI1.
PRIDEiQ8NDI1.

PTM databases

iPTMnetiQ8NDI1.
PhosphoSitePlusiQ8NDI1.

Expressioni

Gene expression databases

BgeeiENSG00000115504.
ExpressionAtlasiQ8NDI1. baseline and differential.
GenevisibleiQ8NDI1. HS.

Organism-specific databases

HPAiHPA035468.
HPA035469.

Interactioni

Subunit structurei

Interacts with EHD2.1 Publication

Protein-protein interaction databases

BioGridi116893. 10 interactors.
IntActiQ8NDI1. 6 interactors.
STRINGi9606.ENSP00000263991.

Structurei

Secondary structure

11231
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi446 – 456Combined sources11
Turni457 – 459Combined sources3
Helixi470 – 473Combined sources4
Helixi476 – 485Combined sources10
Turni487 – 489Combined sources3
Helixi492 – 494Combined sources3
Helixi501 – 511Combined sources11
Turni512 – 515Combined sources4
Helixi522 – 527Combined sources6
Beta strandi528 – 530Combined sources3
Helixi533 – 547Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D89NMR-A443-548[»]
ProteinModelPortaliQ8NDI1.
SMRiQ8NDI1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8NDI1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini13 – 163NT-C2Sequence analysisAdd BLAST151
Domaini443 – 545CHPROSITE-ProRule annotationAdd BLAST103

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili185 – 210Sequence analysisAdd BLAST26
Coiled coili808 – 879Sequence analysisAdd BLAST72
Coiled coili1076 – 1100Sequence analysisAdd BLAST25
Coiled coili1136 – 1230Sequence analysisAdd BLAST95

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi362 – 365Poly-Glu4
Compositional biasi1110 – 1113Poly-Glu4

Sequence similaritiesi

Contains 1 CH (calponin-homology) domain.PROSITE-ProRule annotation
Contains 1 NT-C2 domain.Sequence analysis

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0035. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118856.
HOVERGENiHBG057909.
InParanoidiQ8NDI1.
OMAiKNVRPVD.
OrthoDBiEOG091G01M4.
PhylomeDBiQ8NDI1.
TreeFamiTF105382.

Family and domain databases

CDDicd00014. CH. 1 hit.
Gene3Di1.10.418.10. 1 hit.
InterProiIPR001715. CH-domain.
IPR022735. DUF3585.
IPR029944. EHBP1.
IPR019448. NT-C2.
[Graphical view]
PANTHERiPTHR11915:SF289. PTHR11915:SF289. 2 hits.
PfamiPF00307. CH. 1 hit.
PF12130. DUF3585. 1 hit.
PF10358. NT-C2. 1 hit.
[Graphical view]
SMARTiSM00033. CH. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
PROSITEiPS50021. CH. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
Show »
Length:1,160
Mass (Da):132,322
Checksum:iDD7923FE0B14AF11
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_035913395R → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_031992755K → Q.Corresponds to variant rs17432615dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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. [Q8NDI1-1]
XP_005264283.1. XM_005264226.2. [Q8NDI1-1]
XP_005264284.1. XM_005264227.1. [Q8NDI1-2]
XP_011531015.1. XM_011532713.2. [Q8NDI1-1]
XP_011531016.1. XM_011532714.2. [Q8NDI1-1]
XP_011531017.1. XM_011532715.2. [Q8NDI1-1]
XP_016859132.1. XM_017003643.1. [Q8NDI1-1]
XP_016859133.1. XM_017003644.1. [Q8NDI1-1]
XP_016859136.1. XM_017003647.1. [Q8NDI1-2]
XP_016859137.1. XM_017003648.1. [Q8NDI1-2]
XP_016859138.1. XM_017003649.1. [Q8NDI1-2]
XP_016859140.1. XM_017003651.1. [Q8NDI1-3]
UniGeneiHs.271667.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. [Q8NDI1-1]
XP_005264283.1. XM_005264226.2. [Q8NDI1-1]
XP_005264284.1. XM_005264227.1. [Q8NDI1-2]
XP_011531015.1. XM_011532713.2. [Q8NDI1-1]
XP_011531016.1. XM_011532714.2. [Q8NDI1-1]
XP_011531017.1. XM_011532715.2. [Q8NDI1-1]
XP_016859132.1. XM_017003643.1. [Q8NDI1-1]
XP_016859133.1. XM_017003644.1. [Q8NDI1-1]
XP_016859136.1. XM_017003647.1. [Q8NDI1-2]
XP_016859137.1. XM_017003648.1. [Q8NDI1-2]
XP_016859138.1. XM_017003649.1. [Q8NDI1-2]
XP_016859140.1. XM_017003651.1. [Q8NDI1-3]
UniGeneiHs.271667.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D89NMR-A443-548[»]
ProteinModelPortaliQ8NDI1.
SMRiQ8NDI1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116893. 10 interactors.
IntActiQ8NDI1. 6 interactors.
STRINGi9606.ENSP00000263991.

PTM databases

iPTMnetiQ8NDI1.
PhosphoSitePlusiQ8NDI1.

Polymorphism and mutation databases

BioMutaiEHBP1.
DMDMi223590228.

Proteomic databases

EPDiQ8NDI1.
MaxQBiQ8NDI1.
PaxDbiQ8NDI1.
PeptideAtlasiQ8NDI1.
PRIDEiQ8NDI1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

CTDi23301.
DisGeNETi23301.
GeneCardsiEHBP1.
H-InvDBHIX0030395.
HGNCiHGNC:29144. EHBP1.
HPAiHPA035468.
HPA035469.
MalaCardsiEHBP1.
MIMi609922. gene.
611868. phenotype.
neXtProtiNX_Q8NDI1.
OpenTargetsiENSG00000115504.
PharmGKBiPA128394620.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0035. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118856.
HOVERGENiHBG057909.
InParanoidiQ8NDI1.
OMAiKNVRPVD.
OrthoDBiEOG091G01M4.
PhylomeDBiQ8NDI1.
TreeFamiTF105382.

Miscellaneous databases

ChiTaRSiEHBP1. human.
EvolutionaryTraceiQ8NDI1.
GenomeRNAii23301.
PROiQ8NDI1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115504.
ExpressionAtlasiQ8NDI1. baseline and differential.
GenevisibleiQ8NDI1. HS.

Family and domain databases

CDDicd00014. CH. 1 hit.
Gene3Di1.10.418.10. 1 hit.
InterProiIPR001715. CH-domain.
IPR022735. DUF3585.
IPR029944. EHBP1.
IPR019448. NT-C2.
[Graphical view]
PANTHERiPTHR11915:SF289. PTHR11915:SF289. 2 hits.
PfamiPF00307. CH. 1 hit.
PF12130. DUF3585. 1 hit.
PF10358. NT-C2. 1 hit.
[Graphical view]
SMARTiSM00033. CH. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
PROSITEiPS50021. CH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEHBP1_HUMAN
AccessioniPrimary (citable) accession number: Q8NDI1
Secondary accession number(s): O94977
, Q53TG7, Q53TV6, Q580X2, Q6NX72, Q6PIT3, Q6QNV2, Q9NWI9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: February 10, 2009
Last modified: November 30, 2016
This is version 116 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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
  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
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.