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Protein

RUN and SH3 domain-containing protein 1

Gene

RUSC1

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

Caution

GO - Molecular functioni

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

GO - Biological processi

  • protein polyubiquitination Source: UniProtKB

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

EuPathDBiHostDB:ENSG00000160753.15
HGNCiHGNC:17153 RUSC1
MIMi617318 gene
neXtProtiNX_Q9BVN2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

EPDiQ9BVN2
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

Show more details

GO - Molecular functioni

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

Protein-protein interaction databases

BioGridi11715514 interactors.
IntActiQ9BVN2 86 interactors.
MINTiQ9BVN2
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.

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiKOG0711 Eukaryota
COG0142 LUCA
GeneTreeiENSGT00900000141033
HOGENOMiHOG000010280
HOVERGENiHBG058522
InParanoidiQ9BVN2
OMAiWKTNTGI
OrthoDBiEOG091G0LEE
PhylomeDBiQ9BVN2
TreeFamiTF332235

Family and domain databases

InterProiView protein in InterPro
IPR004012 Run_dom
IPR037213 Run_dom_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF02759 RUN, 1 hit
PF14604 SH3_9, 1 hit
SMARTiView protein in SMART
SM00593 RUN, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF140741 SSF140741, 1 hit
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50826 RUN, 1 hit
PS50002 SH3, 1 hit

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 dbSNP:rs12061020Ensembl.1
Natural variantiVAR_051329493V → A. Corresponds to variant dbSNP:rs35826120Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiRUSC1_HUMAN
AccessioniPrimary (citable) accession number: Q9BVN2
Secondary accession number(s): B3KWM9
, Q5T9U9, Q5T9V0, Q5T9V1, Q5T9V2, Q9UPY4, Q9Y4T5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 23, 2007
Last modified: February 28, 2018
This is version 147 of the entry and version 3 of the sequence. See 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