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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: 3 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173442-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
EH domain-binding protein 1-like protein 1
Gene namesi
Name:EHBP1L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:30682. EHBP1L1.

Subcellular locationi

GO - Cellular componenti

  • membrane Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi254102.
OpenTargetsiENSG00000173442.
PharmGKBiPA134871712.

Polymorphism and mutation databases

BioMutaiEHBP1L1.
DMDMi146286137.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002852041 – 1523EH domain-binding protein 1-like protein 1Add BLAST1523

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N3D4.
MaxQBiQ8N3D4.
PaxDbiQ8N3D4.
PeptideAtlasiQ8N3D4.
PRIDEiQ8N3D4.

PTM databases

iPTMnetiQ8N3D4.
PhosphoSitePlusiQ8N3D4.

Expressioni

Gene expression databases

BgeeiENSG00000173442.
CleanExiHS_EHBP1L1.
ExpressionAtlasiQ8N3D4. baseline and differential.
GenevisibleiQ8N3D4. HS.

Organism-specific databases

HPAiHPA039479.

Interactioni

Protein-protein interaction databases

BioGridi129015. 10 interactors.
IntActiQ8N3D4. 3 interactors.
STRINGi9606.ENSP00000312671.

Structurei

3D structure databases

ProteinModelPortaliQ8N3D4.
SMRiQ8N3D4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini13 – 161NT-C2Sequence analysisAdd BLAST149
Domaini1037 – 1139CHPROSITE-ProRule annotationAdd BLAST103

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1363 – 1515Sequence analysisAdd BLAST153

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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.
HOGENOMiHOG000112349.
HOVERGENiHBG056787.
InParanoidiQ8N3D4.
OMAiSGAPEMD.
OrthoDBiEOG091G01M4.
PhylomeDBiQ8N3D4.
TreeFamiTF105382.

Family and domain databases

CDDicd00014. CH. 1 hit.
Gene3Di1.10.418.10. 1 hit.
InterProiIPR001715. CH-domain.
IPR022735. DUF3585.
IPR029928. Ehbp1l1.
IPR019448. NT-C2.
[Graphical view]
PANTHERiPTHR11915:SF295. PTHR11915:SF295. 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]

Sequencei

Sequence statusi: Complete.

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
Checksum:i5F0DD06B15131597
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1235P → L in CAD39093 (PubMed:17974005).Curated1
Sequence conflicti1378D → E in CAD39093 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061645133V → L.2 PublicationsCorresponds to variant rs1194100dbSNPEnsembl.1
Natural variantiVAR_031993307R → Q.1 PublicationCorresponds to variant rs3741380dbSNPEnsembl.1
Natural variantiVAR_031994538V → G.1 PublicationCorresponds to variant rs6591182dbSNPEnsembl.1
Natural variantiVAR_031995569D → V.2 PublicationsCorresponds to variant rs1194099dbSNPEnsembl.1
Natural variantiVAR_031996599T → I.Corresponds to variant rs7931052dbSNPEnsembl.1
Natural variantiVAR_031997648T → I.Corresponds to variant rs7931269dbSNPEnsembl.1

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.
UniGeneiHs.502867.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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.
UniGeneiHs.502867.

3D structure databases

ProteinModelPortaliQ8N3D4.
SMRiQ8N3D4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129015. 10 interactors.
IntActiQ8N3D4. 3 interactors.
STRINGi9606.ENSP00000312671.

PTM databases

iPTMnetiQ8N3D4.
PhosphoSitePlusiQ8N3D4.

Polymorphism and mutation databases

BioMutaiEHBP1L1.
DMDMi146286137.

Proteomic databases

EPDiQ8N3D4.
MaxQBiQ8N3D4.
PaxDbiQ8N3D4.
PeptideAtlasiQ8N3D4.
PRIDEiQ8N3D4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi254102.
DisGeNETi254102.
GeneCardsiEHBP1L1.
H-InvDBHIX0009801.
HGNCiHGNC:30682. EHBP1L1.
HPAiHPA039479.
neXtProtiNX_Q8N3D4.
OpenTargetsiENSG00000173442.
PharmGKBiPA134871712.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0035. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118856.
HOGENOMiHOG000112349.
HOVERGENiHBG056787.
InParanoidiQ8N3D4.
OMAiSGAPEMD.
OrthoDBiEOG091G01M4.
PhylomeDBiQ8N3D4.
TreeFamiTF105382.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173442-MONOMER.

Miscellaneous databases

ChiTaRSiEHBP1L1. human.
GenomeRNAii254102.
PROiQ8N3D4.

Gene expression databases

BgeeiENSG00000173442.
CleanExiHS_EHBP1L1.
ExpressionAtlasiQ8N3D4. baseline and differential.
GenevisibleiQ8N3D4. HS.

Family and domain databases

CDDicd00014. CH. 1 hit.
Gene3Di1.10.418.10. 1 hit.
InterProiIPR001715. CH-domain.
IPR022735. DUF3585.
IPR029928. Ehbp1l1.
IPR019448. NT-C2.
[Graphical view]
PANTHERiPTHR11915:SF295. PTHR11915:SF295. 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 nameiEH1L1_HUMAN
AccessioniPrimary (citable) accession number: Q8N3D4
Secondary accession number(s): Q8TB89, Q9H7M7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: November 30, 2016
This is version 105 of the entry and version 2 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

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
  4. 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.