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Protein

RUN and SH3 domain-containing protein 1

Gene

RUSC1

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

Functioni

Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation of NGF-dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway.1 Publication

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • SH3/SH2 adaptor activity Source: ProtInc

GO - Biological processi

  • protein polyubiquitination Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160753-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
RUN and SH3 domain-containing protein 1
Alternative name(s):
New molecule containing SH3 at the carboxy-terminus
Short name:
Nesca
Gene namesi
Name:RUSC1
Synonyms:NESCA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:17153. RUSC1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Endosome, Golgi apparatus, Membrane, Microtubule, Nucleus, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi531L → A: Abrogates nuclear redistribution. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000160753.
PharmGKBiPA134947113.

Polymorphism and mutation databases

BioMutaiRUSC1.
DMDMi160380712.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000975321 – 902RUN and SH3 domain-containing protein 1Add BLAST902

Post-translational modificationi

Phosphorylated on serine residues following nuclear translocation.
Polyubiquitinated; polyubiquitination involves TRAF6.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ9BVN2.
PaxDbiQ9BVN2.
PeptideAtlasiQ9BVN2.
PRIDEiQ9BVN2.

PTM databases

iPTMnetiQ9BVN2.
PhosphoSitePlusiQ9BVN2.

Expressioni

Tissue specificityi

Predominantly expressed in brain.

Gene expression databases

BgeeiENSG00000160753.
CleanExiHS_RUSC1.
ExpressionAtlasiQ9BVN2. baseline and differential.
GenevisibleiQ9BVN2. HS.

Organism-specific databases

HPAiHPA028510.
HPA029922.
HPA029923.

Interactioni

Subunit structurei

Interacts with IKBKG and TRAF6. Interacts with F-actin, acetylated actin, TUBB3, STX1A, KIF5B and KLC1 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
FAM9BQ8IZU03EBI-6257312,EBI-10175124
IKBKGQ9Y6K94EBI-6257338,EBI-81279
PNMA1Q8ND906EBI-6257312,EBI-302345
RBPMSQ930623EBI-6257312,EBI-740322
STUB1Q9UNE73EBI-6257312,EBI-357085
TRAF6Q9Y4K32EBI-6257338,EBI-359276
WWP2O003083EBI-6257312,EBI-743923

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • SH3/SH2 adaptor activity Source: ProtInc

Protein-protein interaction databases

BioGridi117155. 14 interactors.
IntActiQ9BVN2. 23 interactors.
STRINGi9606.ENSP00000357336.

Structurei

Secondary structure

1902
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi484 – 502Combined sources19
Helixi508 – 515Combined sources8
Turni517 – 519Combined sources3
Helixi521 – 529Combined sources9
Helixi531 – 540Combined sources10
Beta strandi545 – 549Combined sources5
Turni550 – 552Combined sources3
Beta strandi553 – 556Combined sources4
Helixi559 – 566Combined sources8
Helixi574 – 585Combined sources12
Helixi592 – 606Combined sources15
Helixi609 – 617Combined sources9
Helixi620 – 626Combined sources7
Helixi632 – 635Combined sources4
Turni639 – 642Combined sources4
Helixi643 – 651Combined sources9
Helixi652 – 656Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4GIWX-ray2.00A/B477-666[»]
ProteinModelPortaliQ9BVN2.
SMRiQ9BVN2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini522 – 666RUNPROSITE-ProRule annotationAdd BLAST145
Domaini844 – 902SH3PROSITE-ProRule annotationAdd BLAST59

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni470 – 605Interaction with TRAF61 PublicationAdd BLAST136
Regioni606 – 672Interaction with IKBKG1 PublicationAdd BLAST67

Domaini

The RUN domain is necessary for NGF induced nuclear redistribution.

Sequence similaritiesi

Contains 1 RUN domain.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiKOG0711. Eukaryota.
COG0142. LUCA.
GeneTreeiENSGT00850000132358.
HOGENOMiHOG000010280.
HOVERGENiHBG058522.
InParanoidiQ9BVN2.
OMAiWKTNTGI.
OrthoDBiEOG091G0LEE.
PhylomeDBiQ9BVN2.
TreeFamiTF332235.

Family and domain databases

InterProiIPR004012. Run_dom.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF02759. RUN. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
SMARTiSM00593. RUN. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50826. RUN. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BVN2-1) [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
MLSPQRALLC NLNHIHLQHV SLGLHLSRRP ELQEGPLSTP PPPGDTGGKE
60 70 80 90 100
SRGPCSGTLV DANSNSPAVP CRCCQEHGPG LENRQDPSQE EEGAASPSDP
110 120 130 140 150
GCSSSLSSCS DLSPDESPVS VYLRDLPGDE DAHPQPSIIP LEQGSPLASA
160 170 180 190 200
GPGTCSPDSF CCSPDSCSGA SSSPDPGLDS NCNALTTCQD VPSPGLEEED
210 220 230 240 250
ERAEQDLPTS ELLEADDGKI DAGKTEPSWK INPIWKIDTE KTKAEWKTTE
260 270 280 290 300
NNNTGWKNNG NVNSSWKSEP EKFDSGWKTN TRITDSGSKT DAGKIDGGWR
310 320 330 340 350
SDVSEEPVPH RTITSFHELA QKRKRGPGLP LVPQAKKDRS DWLIVFSPDT
360 370 380 390 400
ELPPSGSPGG SSAPPREVTT FKELRSRSRA PAPPVPPRDP PVGWALVPPR
410 420 430 440 450
PPPPPVPPRR KKNRPGLQPI AEGQSEEGRA VSPAAGEEAP AAKEPGAQAG
460 470 480 490 500
LEVRSSWSFA GVPGAQRLWM AEAQSGTGQL QEQKKGLLIA VSVSVDKIIS
510 520 530 540 550
HFGAARNLVQ KAQLGDSRLS PDVGHLVLTT LCPALHALVA DGLKPFRKDL
560 570 580 590 600
ITGQRRSSPW SVVEASVKPG SSTRSLGTLY SQVSRLAPLS SSRSRFHAFI
610 620 630 640 650
LGLLNTKQLE LWFSSLQEDA GLLSLLYLPT GFFSLARGGC PSLSTELLLL
660 670 680 690 700
LQPLSVLTFH LDLLFEHHHH LPLGPPQAPA PPGPPPALQQ TMQAMLHFGG
710 720 730 740 750
RLAQSLRGTS KEAASDPSDS PNLPTPGSWW EQLTQASRVY ASGGTEGFPL
760 770 780 790 800
SRWAPGRHGT AAEEGAQERP LPTDEMAPGR GLWLGRLFGV PGGPAENENG
810 820 830 840 850
ALKSRRPSSW LPPTVSVLAL VKRGAPPEMP SPQELEASAP RMVQTHRAVR
860 870 880 890 900
ALCDHTAARP DQLSFRRGEV LRVITTVDED WLRCGRDGME GLVPVGYTSL

VL
Length:902
Mass (Da):96,444
Last modified:October 23, 2007 - v3
Checksum:i41DB65236E766A82
GO
Isoform 2 (identifier: Q9BVN2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-469: Missing.

Show »
Length:433
Mass (Da):46,592
Checksum:i6A1D519CA4291A94
GO
Isoform 3 (identifier: Q9BVN2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-452: MLSPQRALLC...KEPGAQAGLE → MPPTCSPGLR...ALQALAGQAG

Show »
Length:492
Mass (Da):52,751
Checksum:i8F398A6E086099DF
GO
Isoform 4 (identifier: Q9BVN2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     621-726: Missing.

Note: No experimental confirmation available.
Show »
Length:796
Mass (Da):85,216
Checksum:iD5772D1B94B5ABC2
GO

Sequence cautioni

The sequence AAH52277 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG54191 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti36P → S in BC025680 (PubMed:15489334).Curated1
Sequence conflicti539V → L in BAA77507 (PubMed:10760598).Curated1
Sequence conflicti770P → T in BAA77507 (PubMed:10760598).Curated1
Sequence conflicti788F → L in CAB45702 (PubMed:17974005).Curated1
Sequence conflicti793 – 795GPA → APP in BAA77507 (PubMed:10760598).Curated3
Sequence conflicti852L → F in CAB45702 (PubMed:17974005).Curated1
Sequence conflicti865F → Y in CAB45702 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036803362S → F.Corresponds to variant rs12061020dbSNPEnsembl.1
Natural variantiVAR_051329493V → A.Corresponds to variant rs35826120dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0108551 – 469Missing in isoform 2. 5 PublicationsAdd BLAST469
Alternative sequenceiVSP_0540521 – 452MLSPQ…QAGLE → MPPTCSPGLRRQDWAPGRCA GLHLPPRAPSSPALQALAGQ AG in isoform 3. 1 PublicationAdd BLAST452
Alternative sequenceiVSP_054053621 – 726Missing in isoform 4. 1 PublicationAdd BLAST106

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB026894 mRNA. Translation: BAA77507.2.
AL080083 mRNA. Translation: CAB45702.1.
AK314559 mRNA. Translation: BAG37144.1.
AK074982 mRNA. Translation: BAG52045.1.
AK055451 mRNA. No translation available.
AK125378 mRNA. Translation: BAG54191.1. Different initiation.
BX640612 mRNA. Translation: CAE45718.1.
AL139410 Genomic DNA. No translation available.
CH471121 Genomic DNA. Translation: EAW53069.1.
CH471121 Genomic DNA. Translation: EAW53071.1.
CH471121 Genomic DNA. Translation: EAW53072.1.
BC001045 mRNA. Translation: AAH01045.1.
BC025680 mRNA. No translation available.
BC052277 mRNA. Translation: AAH52277.1. Different initiation.
CCDSiCCDS1112.1. [Q9BVN2-2]
CCDS41410.1. [Q9BVN2-1]
CCDS41411.1. [Q9BVN2-4]
CCDS41412.1. [Q9BVN2-3]
PIRiT12473.
RefSeqiNP_001098673.1. NM_001105203.1. [Q9BVN2-1]
NP_001098674.1. NM_001105204.1. [Q9BVN2-4]
NP_001098675.1. NM_001105205.1. [Q9BVN2-3]
NP_001265156.1. NM_001278227.1.
NP_001265157.1. NM_001278228.1.
NP_001265158.1. NM_001278229.1.
NP_001265159.1. NM_001278230.1. [Q9BVN2-2]
NP_055143.2. NM_014328.4. [Q9BVN2-2]
XP_006711320.1. XM_006711257.1. [Q9BVN2-2]
XP_016856381.1. XM_017000892.1.
UniGeneiHs.226499.

Genome annotation databases

EnsembliENST00000292254; ENSP00000292254; ENSG00000160753. [Q9BVN2-2]
ENST00000368347; ENSP00000357331; ENSG00000160753. [Q9BVN2-3]
ENST00000368349; ENSP00000357333; ENSG00000160753. [Q9BVN2-2]
ENST00000368352; ENSP00000357336; ENSG00000160753. [Q9BVN2-1]
ENST00000368354; ENSP00000357338; ENSG00000160753. [Q9BVN2-4]
GeneIDi23623.
KEGGihsa:23623.
UCSCiuc001fkj.3. human. [Q9BVN2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB026894 mRNA. Translation: BAA77507.2.
AL080083 mRNA. Translation: CAB45702.1.
AK314559 mRNA. Translation: BAG37144.1.
AK074982 mRNA. Translation: BAG52045.1.
AK055451 mRNA. No translation available.
AK125378 mRNA. Translation: BAG54191.1. Different initiation.
BX640612 mRNA. Translation: CAE45718.1.
AL139410 Genomic DNA. No translation available.
CH471121 Genomic DNA. Translation: EAW53069.1.
CH471121 Genomic DNA. Translation: EAW53071.1.
CH471121 Genomic DNA. Translation: EAW53072.1.
BC001045 mRNA. Translation: AAH01045.1.
BC025680 mRNA. No translation available.
BC052277 mRNA. Translation: AAH52277.1. Different initiation.
CCDSiCCDS1112.1. [Q9BVN2-2]
CCDS41410.1. [Q9BVN2-1]
CCDS41411.1. [Q9BVN2-4]
CCDS41412.1. [Q9BVN2-3]
PIRiT12473.
RefSeqiNP_001098673.1. NM_001105203.1. [Q9BVN2-1]
NP_001098674.1. NM_001105204.1. [Q9BVN2-4]
NP_001098675.1. NM_001105205.1. [Q9BVN2-3]
NP_001265156.1. NM_001278227.1.
NP_001265157.1. NM_001278228.1.
NP_001265158.1. NM_001278229.1.
NP_001265159.1. NM_001278230.1. [Q9BVN2-2]
NP_055143.2. NM_014328.4. [Q9BVN2-2]
XP_006711320.1. XM_006711257.1. [Q9BVN2-2]
XP_016856381.1. XM_017000892.1.
UniGeneiHs.226499.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4GIWX-ray2.00A/B477-666[»]
ProteinModelPortaliQ9BVN2.
SMRiQ9BVN2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117155. 14 interactors.
IntActiQ9BVN2. 23 interactors.
STRINGi9606.ENSP00000357336.

PTM databases

iPTMnetiQ9BVN2.
PhosphoSitePlusiQ9BVN2.

Polymorphism and mutation databases

BioMutaiRUSC1.
DMDMi160380712.

Proteomic databases

MaxQBiQ9BVN2.
PaxDbiQ9BVN2.
PeptideAtlasiQ9BVN2.
PRIDEiQ9BVN2.

Protocols and materials databases

DNASUi23623.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000292254; ENSP00000292254; ENSG00000160753. [Q9BVN2-2]
ENST00000368347; ENSP00000357331; ENSG00000160753. [Q9BVN2-3]
ENST00000368349; ENSP00000357333; ENSG00000160753. [Q9BVN2-2]
ENST00000368352; ENSP00000357336; ENSG00000160753. [Q9BVN2-1]
ENST00000368354; ENSP00000357338; ENSG00000160753. [Q9BVN2-4]
GeneIDi23623.
KEGGihsa:23623.
UCSCiuc001fkj.3. human. [Q9BVN2-1]

Organism-specific databases

CTDi23623.
GeneCardsiRUSC1.
H-InvDBHIX0116321.
HGNCiHGNC:17153. RUSC1.
HPAiHPA028510.
HPA029922.
HPA029923.
neXtProtiNX_Q9BVN2.
OpenTargetsiENSG00000160753.
PharmGKBiPA134947113.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0711. Eukaryota.
COG0142. LUCA.
GeneTreeiENSGT00850000132358.
HOGENOMiHOG000010280.
HOVERGENiHBG058522.
InParanoidiQ9BVN2.
OMAiWKTNTGI.
OrthoDBiEOG091G0LEE.
PhylomeDBiQ9BVN2.
TreeFamiTF332235.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160753-MONOMER.

Miscellaneous databases

ChiTaRSiRUSC1. human.
GenomeRNAii23623.
PROiQ9BVN2.

Gene expression databases

BgeeiENSG00000160753.
CleanExiHS_RUSC1.
ExpressionAtlasiQ9BVN2. baseline and differential.
GenevisibleiQ9BVN2. HS.

Family and domain databases

InterProiIPR004012. Run_dom.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF02759. RUN. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
SMARTiSM00593. RUN. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50826. RUN. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRUSC1_HUMAN
AccessioniPrimary (citable) accession number: Q9BVN2
Secondary accession number(s): B3KWM9
, Q5T9U9, Q5T9V0, Q5T9V1, Q5T9V2, Q9UPY4, Q9Y4T5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 23, 2007
Last modified: November 30, 2016
This is version 137 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 1
    Human chromosome 1: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. 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.