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Protein

Notchless protein homolog 1

Gene

NLE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Notch signaling pathway

Enzyme and pathway databases

BioCyciZFISH:ENSG00000073536-MONOMER.
SignaLinkiQ9NVX2.

Names & Taxonomyi

Protein namesi
Recommended name:
Notchless protein homolog 1
Gene namesi
Name:NLE1
ORF Names:HUSSY-07
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:19889. NLE1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi54475.
OpenTargetsiENSG00000073536.
PharmGKBiPA142671263.

Polymorphism and mutation databases

BioMutaiNLE1.
DMDMi296439488.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000510982 – 485Notchless protein homolog 1Add BLAST484

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei79PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9NVX2.
MaxQBiQ9NVX2.
PaxDbiQ9NVX2.
PeptideAtlasiQ9NVX2.
PRIDEiQ9NVX2.

2D gel databases

SWISS-2DPAGEQ9NVX2.

PTM databases

iPTMnetiQ9NVX2.
PhosphoSitePlusiQ9NVX2.

Expressioni

Gene expression databases

BgeeiENSG00000073536.
CleanExiHS_NLE1.
ExpressionAtlasiQ9NVX2. baseline and differential.
GenevisibleiQ9NVX2. HS.

Organism-specific databases

HPAiHPA018807.

Interactioni

Protein-protein interaction databases

BioGridi119980. 30 interactors.
IntActiQ9NVX2. 5 interactors.
MINTiMINT-1474299.
STRINGi9606.ENSP00000413572.

Structurei

3D structure databases

ProteinModelPortaliQ9NVX2.
SMRiQ9NVX2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati112 – 151WD 1Add BLAST40
Repeati154 – 193WD 2Add BLAST40
Repeati197 – 241WD 3Add BLAST45
Repeati244 – 282WD 4Add BLAST39
Repeati325 – 366WD 5Add BLAST42
Repeati370 – 409WD 6Add BLAST40
Repeati412 – 451WD 7Add BLAST40
Repeati454 – 484WD 8Add BLAST31

Sequence similaritiesi

Belongs to the NLE1/RSA4 family.Curated
Contains 8 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0271. Eukaryota.
ENOG410XP3K. LUCA.
GeneTreeiENSGT00860000133793.
HOGENOMiHOG000091641.
HOVERGENiHBG007602.
InParanoidiQ9NVX2.
KOiK14855.
OMAiVTSLAWE.
OrthoDBiEOG091G05DP.
PhylomeDBiQ9NVX2.
TreeFamiTF300668.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR001632. Gprotein_B.
IPR012972. NLE.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF08154. NLE. 1 hit.
PF00400. WD40. 7 hits.
[Graphical view]
PRINTSiPR00319. GPROTEINB.
PR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 8 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
PROSITEiPS00678. WD_REPEATS_1. 4 hits.
PS50082. WD_REPEATS_2. 7 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NVX2-1) [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
MAAAVPDEAV ARDVQRLLVQ FQDEGGQLLG SPFDVPVDIT PDRLQLVCNA
60 70 80 90 100
LLAQEDPLPL AFFVHDAEIV SSLGKTLESQ AVETEKVLDI IYQPQAIFRV
110 120 130 140 150
RAVTRCTSSL EGHSEAVISV AFSPTGKYLA SGSGDTTVRF WDLSTETPHF
160 170 180 190 200
TCKGHRHWVL SISWSPDGRK LASGCKNGQI LLWDPSTGKQ VGRTLAGHSK
210 220 230 240 250
WITGLSWEPL HANPECRYVA SSSKDGSVRI WDTTAGRCER ILTGHTQSVT
260 270 280 290 300
CLRWGGDGLL YSASQDRTIK VWRAHDGVLC RTLQGHGHWV NTMALSTDYA
310 320 330 340 350
LRTGAFEPAE ASVNPQDLQG SLQELKERAL SRYNLVRGQG PERLVSGSDD
360 370 380 390 400
FTLFLWSPAE DKKPLTRMTG HQALINQVLF SPDSRIVASA SFDKSIKLWD
410 420 430 440 450
GRTGKYLASL RGHVAAVYQI AWSADSRLLV SGSSDSTLKV WDVKAQKLAM
460 470 480
DLPGHADEVY AVDWSPDGQR VASGGKDKCL RIWRR
Length:485
Mass (Da):53,320
Last modified:May 18, 2010 - v4
Checksum:iE2E638B13884BC07
GO
Isoform 2 (identifier: Q9NVX2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-292: Missing.

Show »
Length:193
Mass (Da):21,310
Checksum:i01348EBE25FBF31E
GO

Sequence cautioni

The sequence BAD92348 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti321S → F in BAD92348 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0603276P → A.Combined sources3 PublicationsCorresponds to variant rs1471615dbSNPEnsembl.1
Natural variantiVAR_060328169R → K.2 PublicationsCorresponds to variant rs7215209dbSNPEnsembl.1
Natural variantiVAR_035886319Q → K in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs75635495dbSNPEnsembl.1
Natural variantiVAR_057616406Y → H.Corresponds to variant rs2306513dbSNPEnsembl.1
Natural variantiVAR_057617434S → N.Corresponds to variant rs2306512dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0405551 – 292Missing in isoform 2. 1 PublicationAdd BLAST292

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001320 mRNA. Translation: BAA91621.1.
AB209111 mRNA. Translation: BAD92348.1. Different initiation.
AC022916 Genomic DNA. No translation available.
BC002884 mRNA. Translation: AAH02884.2.
BC012075 mRNA. Translation: AAH12075.1.
AJ005257 mRNA. Translation: CAA06444.1.
CCDSiCCDS11291.1. [Q9NVX2-1]
CCDS45647.1. [Q9NVX2-2]
RefSeqiNP_001014445.1. NM_001014445.2. [Q9NVX2-2]
NP_060566.2. NM_018096.4. [Q9NVX2-1]
XP_016880266.1. XM_017024777.1. [Q9NVX2-2]
UniGeneiHs.85570.

Genome annotation databases

EnsembliENST00000442241; ENSP00000413572; ENSG00000073536. [Q9NVX2-1]
ENST00000586869; ENSP00000466588; ENSG00000073536. [Q9NVX2-2]
GeneIDi54475.
KEGGihsa:54475.
UCSCiuc002hiy.3. human. [Q9NVX2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001320 mRNA. Translation: BAA91621.1.
AB209111 mRNA. Translation: BAD92348.1. Different initiation.
AC022916 Genomic DNA. No translation available.
BC002884 mRNA. Translation: AAH02884.2.
BC012075 mRNA. Translation: AAH12075.1.
AJ005257 mRNA. Translation: CAA06444.1.
CCDSiCCDS11291.1. [Q9NVX2-1]
CCDS45647.1. [Q9NVX2-2]
RefSeqiNP_001014445.1. NM_001014445.2. [Q9NVX2-2]
NP_060566.2. NM_018096.4. [Q9NVX2-1]
XP_016880266.1. XM_017024777.1. [Q9NVX2-2]
UniGeneiHs.85570.

3D structure databases

ProteinModelPortaliQ9NVX2.
SMRiQ9NVX2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119980. 30 interactors.
IntActiQ9NVX2. 5 interactors.
MINTiMINT-1474299.
STRINGi9606.ENSP00000413572.

PTM databases

iPTMnetiQ9NVX2.
PhosphoSitePlusiQ9NVX2.

Polymorphism and mutation databases

BioMutaiNLE1.
DMDMi296439488.

2D gel databases

SWISS-2DPAGEQ9NVX2.

Proteomic databases

EPDiQ9NVX2.
MaxQBiQ9NVX2.
PaxDbiQ9NVX2.
PeptideAtlasiQ9NVX2.
PRIDEiQ9NVX2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000442241; ENSP00000413572; ENSG00000073536. [Q9NVX2-1]
ENST00000586869; ENSP00000466588; ENSG00000073536. [Q9NVX2-2]
GeneIDi54475.
KEGGihsa:54475.
UCSCiuc002hiy.3. human. [Q9NVX2-1]

Organism-specific databases

CTDi54475.
DisGeNETi54475.
GeneCardsiNLE1.
HGNCiHGNC:19889. NLE1.
HPAiHPA018807.
neXtProtiNX_Q9NVX2.
OpenTargetsiENSG00000073536.
PharmGKBiPA142671263.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0271. Eukaryota.
ENOG410XP3K. LUCA.
GeneTreeiENSGT00860000133793.
HOGENOMiHOG000091641.
HOVERGENiHBG007602.
InParanoidiQ9NVX2.
KOiK14855.
OMAiVTSLAWE.
OrthoDBiEOG091G05DP.
PhylomeDBiQ9NVX2.
TreeFamiTF300668.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000073536-MONOMER.
SignaLinkiQ9NVX2.

Miscellaneous databases

GeneWikiiNLE1.
GenomeRNAii54475.
PROiQ9NVX2.

Gene expression databases

BgeeiENSG00000073536.
CleanExiHS_NLE1.
ExpressionAtlasiQ9NVX2. baseline and differential.
GenevisibleiQ9NVX2. HS.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR001632. Gprotein_B.
IPR012972. NLE.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF08154. NLE. 1 hit.
PF00400. WD40. 7 hits.
[Graphical view]
PRINTSiPR00319. GPROTEINB.
PR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 8 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
PROSITEiPS00678. WD_REPEATS_1. 4 hits.
PS50082. WD_REPEATS_2. 7 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNLE1_HUMAN
AccessioniPrimary (citable) accession number: Q9NVX2
Secondary accession number(s): O60868, Q59GJ8, Q9BU54
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 146 of the entry and version 4 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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.