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Protein

Iporin

Gene

RUSC2

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

Functioni

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Iporin
Alternative name(s):
Interacting protein of Rab1
RUN and SH3 domain-containing protein 2
Gene namesi
Name:RUSC2
Synonyms:KIAA0375
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000198853.11
HGNCiHGNC:23625 RUSC2
MIMi611053 gene
neXtProtiNX_Q8N2Y8

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

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 61 (MRT61)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT61 patients manifest delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. Refractory seizures and brain abnormalities are present in severely affected patients.
See also OMIM:617773
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080461866 – 1516Missing in MRT61; unknown pathological significance. 1 PublicationAdd BLAST651
Natural variantiVAR_0804621318 – 1516Missing in MRT61; unknown pathological significance. 1 PublicationAdd BLAST199

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi9853
MalaCardsiRUSC2
MIMi617773 phenotype
OpenTargetsiENSG00000198853
PharmGKBiPA134956488

Polymorphism and mutation databases

BioMutaiRUSC2
DMDMi317373513

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000975341 – 1516IporinAdd BLAST1516

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei536PhosphoserineCombined sources1
Modified residuei543PhosphoserineCombined sources1
Modified residuei559PhosphoserineCombined sources1
Modified residuei656PhosphoserineCombined sources1
Modified residuei781PhosphoserineCombined sources1
Modified residuei1368PhosphoserineCombined sources1
Modified residuei1380PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N2Y8
MaxQBiQ8N2Y8
PaxDbiQ8N2Y8
PeptideAtlasiQ8N2Y8
PRIDEiQ8N2Y8
ProteomicsDBi71741

PTM databases

iPTMnetiQ8N2Y8
PhosphoSitePlusiQ8N2Y8

Expressioni

Tissue specificityi

Widely expressed, with highest levels in brain and testis.1 Publication

Gene expression databases

BgeeiENSG00000198853
CleanExiHS_RUSC2
GenevisibleiQ8N2Y8 HS

Organism-specific databases

HPAiHPA021297

Interactioni

Subunit structurei

Interacts with active RAB1A and RAB1B, and with GOLGA2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
RAB1BQ9H0U43EBI-722486,EBI-1045214

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115187, 19 interactors
ELMiQ8N2Y8
IntActiQ8N2Y8, 21 interactors
MINTiQ8N2Y8
STRINGi9606.ENSP00000355177

Structurei

3D structure databases

ProteinModelPortaliQ8N2Y8
SMRiQ8N2Y8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1031 – 1175RUNPROSITE-ProRule annotationAdd BLAST145
Domaini1447 – 1506SH3PROSITE-ProRule annotationAdd BLAST60

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1239 – 1249Poly-GluAdd BLAST11

Domaini

The RUN domain is required for the interaction with RAB1A and RAB1B.

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiENOG410IFB8 Eukaryota
ENOG410XPGW LUCA
GeneTreeiENSGT00900000141033
HOGENOMiHOG000133098
HOVERGENiHBG059413
InParanoidiQ8N2Y8
OMAiELDANCN
OrthoDBiEOG091G0LEE
PhylomeDBiQ8N2Y8
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
PF07653 SH3_2, 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

Sequencei

Sequence statusi: Complete.

Q8N2Y8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDSPPKLTGE TLIVHHIPLV HCQVPDRQCC GGAGGGGGST RPNPFCPPEL
60 70 80 90 100
GITQPDQDLG QADSLLFSSL HSTPGGTARS IDSTKSRSRD GRGPGAPKRH
110 120 130 140 150
NPFLLQEGVG EPGLGDLYDD SIGDSATQQS FHLHGTGQPN FHLSSFQLPP
160 170 180 190 200
SGPRVGRPWG TTRSRAGVVE GQEQEPVMTL DTQQCGTSHC CRPELEAETM
210 220 230 240 250
ELDECGGPGG SGSGGGASDT SGFSFDQEWK LSSDESPRNP GCSGSGDQHC
260 270 280 290 300
RCSSTSSQSE AADQSMGYVS DSSCNSSDGV LVTFSTLYNK MHGTPRANLN
310 320 330 340 350
SAPQSCSDSS FCSHSDPGAF YLDLQPSPFE SKMSYESHHP ESGGREGGYG
360 370 380 390 400
CPHASSPELD ANCNSYRPHC EPCPAVADLT ACFQSQARLV VATQNYYKLV
410 420 430 440 450
TCDLSSQSSP SPAGSSITSC SEEHTKISPP PGPGPDPGPS QPSEYYLFQK
460 470 480 490 500
PEVQPEEQEA VSSSTQAAAA VGPTVLEGQV YTNTSPPNLS TGRQRSRSYD
510 520 530 540 550
RSLQRSPPVR LGSLERMLSC PVRLSEGPAA MAGPGSPPRR VTSFAELAKG
560 570 580 590 600
RKKTGGSGSP PLRVSVGDSS QEFSPIQEAQ QDRGAPLDEG TCCSHSLPPM
610 620 630 640 650
PLGPGMDLLG PDPSPPWSTQ VCQGPHSSEM PPAGLRATGQ GPLAQLMDPG
660 670 680 690 700
PALPGSPANS HTQRDARARA DGGGTESRPV LRYSKEQRPT TLPIQPFVFQ
710 720 730 740 750
HHFPKQLAKA RALHSLSQLY SLSGCSRTQQ PAPLAAPAAQ VSVPAPSGEP
760 770 780 790 800
QASTPRATGR GARKAGSEPE TSRPSPLGSY SPIRSVGPFG PSTDSSASTS
810 820 830 840 850
CSPPPEQPTA TESLPPWSHS CPSAVRPATS QQPQKEDQKI LTLTEYRLHG
860 870 880 890 900
TGSLPPLGSW RSGLSRAESL ARGGGEGSMA TRPSNANHLS PQALKWREYR
910 920 930 940 950
RKNPLGPPGL SGSLDRRSQE ARLARRNPIF EFPGSLSAAS HLNCRLNGQA
960 970 980 990 1000
VKPLPLTCPD FQDPFSLTEK PPAEFCLSPD GSSEAISIDL LQKKGLVKAV
1010 1020 1030 1040 1050
NIAVDLIVAH FGTSRDPGVK AKLGNSSVSP NVGHLVLKYL CPAVRAVLED
1060 1070 1080 1090 1100
GLKAFVLDVI IGQRKNMPWS VVEASTQLGP STKVLHGLYN KVSQFPELTS
1110 1120 1130 1140 1150
HTMRFNAFIL GLLNIRSLEF WFNHLYNHED IIQTHYQPWG FLSAAHTVCP
1160 1170 1180 1190 1200
GLFEELLLLL QPLALLPFSL DLLFQHRLLQ SGQQQRQHKE LLRVSQDLLL
1210 1220 1230 1240 1250
SAHSTLQLAR ARGQEGPGDV DRAAQGERVK GVGASEGGEE EEEEEETEEV
1260 1270 1280 1290 1300
AEAAGGSGRA RWARGGQAGW WYQLMQSSQV YIDGSIEGSR FPRGSSNSSS
1310 1320 1330 1340 1350
EKKKGAGGGG PPQAPPPREG VVEGAEACPA SEEALGRERG WPFWMGSPPD
1360 1370 1380 1390 1400
SVLAELRRSR EREGPAASPA ENEEGASEPS PGGIKWGHLF GSRKAQREAR
1410 1420 1430 1440 1450
PTNRLPSDWL SLDKSMFQLV AQTVGSRREP EPKESLQEPH SPALPSSPPC
1460 1470 1480 1490 1500
EVQALCHHLA TGPGQLSFHK GDILRVLGRA GGDWLRCSRG PDSGLVPLAY
1510
VTLTPTPSPT PGSSQN
Length:1,516
Mass (Da):161,225
Last modified:January 11, 2011 - v3
Checksum:iE96E1180A1E18CF8
GO

Sequence cautioni

The sequence BAA20830 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03465373T → A3 PublicationsCorresponds to variant dbSNP:rs1535422Ensembl.1
Natural variantiVAR_034654654P → L. Corresponds to variant dbSNP:rs3750427Ensembl.1
Natural variantiVAR_080461866 – 1516Missing in MRT61; unknown pathological significance. 1 PublicationAdd BLAST651
Natural variantiVAR_0804621318 – 1516Missing in MRT61; unknown pathological significance. 1 PublicationAdd BLAST199

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002373 mRNA Translation: BAA20830.2 Different initiation.
AL133476 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58377.1
BC029647 mRNA Translation: AAH29647.1
BC064843 mRNA Translation: AAH64843.1
BC082245 mRNA Translation: AAH82245.1
BC132766 mRNA Translation: AAI32767.1
BC132770 mRNA Translation: AAI32771.1
BC146654 mRNA Translation: AAI46655.1
BC150262 mRNA Translation: AAI50263.1
CCDSiCCDS35008.1
RefSeqiNP_001129471.1, NM_001135999.1
NP_055621.1, NM_014806.4
UniGeneiHs.493796

Genome annotation databases

EnsembliENST00000361226; ENSP00000355177; ENSG00000198853
ENST00000455600; ENSP00000393922; ENSG00000198853
GeneIDi9853
KEGGihsa:9853
UCSCiuc003zww.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRUSC2_HUMAN
AccessioniPrimary (citable) accession number: Q8N2Y8
Secondary accession number(s): A2RU62
, A7E2A9, O15080, Q5W134, Q641Q6, Q6P1W7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: January 11, 2011
Last modified: July 18, 2018
This is version 123 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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

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