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UniProtKB - Q15811 (ITSN1_HUMAN)

Protein

Intersectin-1

Gene

ITSN1

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

Functioni

Acts as guanine nucleotide exchange factor (GEF) specific for the CDC42 GTPase (By similarity). Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association with DAB2. Isoform 1 could be involved in brain-specific synaptic vesicle recycling. Inhibits ARHGAP31 activity toward RAC1.By similarity2 Publications

Caution

Studies in clathrin-mediated endocytosis of ITGB1 and TFR used a siRNA mixture of ISTN1 and ISTN2, and a Dab2 mutant with impaired binding to EH domain-containing proteins EPS15 and ITSN1 suggesting a partially overlapping role of the EH domain-containing proteins.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi66 – 771PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi267 – 2782PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • guanyl-nucleotide exchange factor activity Source: Reactome
  • kinase activator activity Source: Ensembl
  • proline-rich region binding Source: UniProtKB
  • protein-containing complex scaffold activity Source: UniProtKB
  • Rho guanyl-nucleotide exchange factor activity Source: Reactome
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processEndocytosis, Host-virus interaction
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-3928662 EPHB-mediated forward signaling
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
SignaLinkiQ15811
SIGNORiQ15811

Names & Taxonomyi

Protein namesi
Recommended name:
Intersectin-1
Alternative name(s):
SH3 domain-containing protein 1A
SH3P17
Gene namesi
Name:ITSN1
Synonyms:ITSN, SH3D1A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000205726.13
HGNCiHGNC:6183 ITSN1
MIMi602442 gene
neXtProtiNX_Q15811

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 projection, Coated pit, Membrane, Synapse, Synaptosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1369M → L: Decreases specificity for CDC42; when associated with I-1376. 1 Publication1
Mutagenesisi1376L → I: Decreases specificity for CDC42; when associated with L-1369. 1 Publication1

Organism-specific databases

DisGeNETi6453
OpenTargetsiENSG00000205726
PharmGKBiPA29981

Polymorphism and mutation databases

BioMutaiITSN1
DMDMi116242596

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000809571 – 1721Intersectin-1Add BLAST1721

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei203PhosphoserineCombined sources1
Modified residuei318PhosphoserineBy similarity1
Modified residuei687PhosphoserineBy similarity1
Modified residuei897PhosphothreonineBy similarity1
Modified residuei901PhosphoserineCombined sources1
Modified residuei902PhosphoserineCombined sources1
Modified residuei904PhosphoserineCombined sources1
Modified residuei978PhosphoserineBy similarity1
Modified residuei986PhosphoserineCombined sources1
Modified residuei995PhosphoserineCombined sources1
Modified residuei1137PhosphoserineCombined sources1
Modified residuei1144PhosphothreonineCombined sources1
Modified residuei1645PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ15811
MaxQBiQ15811
PaxDbiQ15811
PeptideAtlasiQ15811
PRIDEiQ15811
ProteomicsDBi60768
60769 [Q15811-2]
60770 [Q15811-3]
60771 [Q15811-4]

PTM databases

iPTMnetiQ15811
PhosphoSitePlusiQ15811

Expressioni

Tissue specificityi

Isoform 2 is ubiquitous in adult and fetal tissues with high expression in skeletal muscle, heart, spleen, ovary, testis and all fetal tissues tested and low expression in thymus, blood, lung, liver and pancreas. Isoform 1 is expressed almost exclusively in the brain, in all brain regions. Not expressed in the spinal cord.

Gene expression databases

BgeeiENSG00000205726 Expressed in 238 organ(s), highest expression level in adipose tissue of abdominal region
CleanExiHS_ITSN1
ExpressionAtlasiQ15811 baseline and differential
GenevisibleiQ15811 HS

Organism-specific databases

HPAiHPA018007

Interactioni

Subunit structurei

Interacts with dynamin, CDC42, SNAP25 and SNAP23 (PubMed:12006984). Clusters several dynamin in a manner that is regulated by alternative splicing. Interacts with clathrin-associated proteins and other components of the endocytic machinery, such as SPIN90, EPS15, EPN1, EPN2, STON2, FCHO1, FCHO2 and DAB2 (PubMed:20448150, PubMed:22484487, PubMed:22648170). Interacts (via SH3 domains) with REPS1 and SGIP1 (PubMed:20946875). Interacts with ARHGAP31 (PubMed:11744688). Interacts with ADAM15 (PubMed:19718658). Interacts with PRRT2 (By similarity).By similarity7 Publications
(Microbial infection) Interacts with vaccinia virus protein A36 (PubMed:27670116).1 Publication

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112351, 133 interactors
DIPiDIP-33609N
IntActiQ15811, 50 interactors
MINTiQ15811
STRINGi9606.ENSP00000370719

Structurei

Secondary structure

11721
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ15811
SMRiQ15811
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ15811

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini21 – 109EH 1PROSITE-ProRule annotationAdd BLAST89
Domaini53 – 88EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini221 – 310EH 2PROSITE-ProRule annotationAdd BLAST90
Domaini254 – 289EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini740 – 806SH3 1PROSITE-ProRule annotationAdd BLAST67
Domaini913 – 971SH3 2PROSITE-ProRule annotationAdd BLAST59
Domaini1002 – 1060SH3 3PROSITE-ProRule annotationAdd BLAST59
Domaini1074 – 1138SH3 4PROSITE-ProRule annotationAdd BLAST65
Domaini1155 – 1214SH3 5PROSITE-ProRule annotationAdd BLAST60
Domaini1237 – 1423DHPROSITE-ProRule annotationAdd BLAST187
Domaini1462 – 1571PHPROSITE-ProRule annotationAdd BLAST110
Domaini1583 – 1679C2PROSITE-ProRule annotationAdd BLAST97

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni326 – 702KLERQAdd BLAST377

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili351 – 705Sequence analysisAdd BLAST355

Domaini

SH3-3, SH3-4 and SH3-5, but not SH3-1 and SH3-2 domains, bind to dynamin (By similarity). SH3-1 and SH3-4 bind to ARHGAP31.By similarity
The KLERQ domain binds to SNAP-25 and SNAP-23.By similarity
In an autoinhibited form the SH3 domain 5 may bind intramolecularly to the DH domain, thus blocking the CDC42-binding site.By similarity

Keywords - Domaini

Coiled coil, Repeat, SH3 domain

Phylogenomic databases

eggNOGiKOG1029 Eukaryota
KOG4305 Eukaryota
COG5422 LUCA
GeneTreeiENSGT00760000118985
HOGENOMiHOG000010175
HOVERGENiHBG052159
InParanoidiQ15811
KOiK20045
OMAiEYIAMYT
OrthoDBiEOG091G0TXR
PhylomeDBiQ15811
TreeFamiTF324293

Family and domain databases

CDDicd00052 EH, 2 hits
cd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR000261 EH_dom
IPR001331 GDS_CDC24_CS
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF12763 EF-hand_4, 2 hits
PF16652 PH_13, 1 hit
PF00621 RhoGEF, 1 hit
PF00018 SH3_1, 3 hits
PF14604 SH3_9, 2 hits
PRINTSiPR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00054 EFh, 2 hits
SM00027 EH, 2 hits
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SM00326 SH3, 5 hits
SUPFAMiSSF47473 SSF47473, 2 hits
SSF48065 SSF48065, 1 hit
SSF50044 SSF50044, 5 hits
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit
PS00741 DH_1, 1 hit
PS50010 DH_2, 1 hit
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 2 hits
PS50031 EH, 2 hits
PS50003 PH_DOMAIN, 1 hit
PS50002 SH3, 5 hits

Sequences (13+)i

Sequence statusi: Complete.

This entry describes 13 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist. Alternative splicing affects domains involved in protein recognition and thus may play a role in selecting specific interactions.2 Publications

This entry has 13 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15811-1) [UniParc]FASTAAdd to basket
Also known as: Long, ITSN-l

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
MAQFPTPFGG SLDIWAITVE ERAKHDQQFH SLKPISGFIT GDQARNFFFQ 
        60         70         80         90        100
SGLPQPVLAQ IWALADMNND GRMDQVEFSI AMKLIKLKLQ GYQLPSALPP 
       110        120        130        140        150
VMKQQPVAIS SAPAFGMGGI ASMPPLTAVA PVPMGSIPVV GMSPTLVSSV 
       160        170        180        190        200
PTAAVPPLAN GAPPVIQPLP AFAHPAATLP KSSSFSRSGP GSQLNTKLQK 
       210        220        230        240        250
AQSFDVASVP PVAEWAVPQS SRLKYRQLFN SHDKTMSGHL TGPQARTILM 
       260        270        280        290        300
QSSLPQAQLA SIWNLSDIDQ DGKLTAEEFI LAMHLIDVAM SGQPLPPVLP 
       310        320        330        340        350
PEYIPPSFRR VRSGSGISVI SSTSVDQRLP EEPVLEDEQQ QLEKKLPVTF 
       360        370        380        390        400
EDKKRENFER GNLELEKRRQ ALLEQQRKEQ ERLAQLERAE QERKERERQE 
       410        420        430        440        450
QERKRQLELE KQLEKQRELE RQREEERRKE IERREAAKRE LERQRQLEWE 
       460        470        480        490        500
RNRRQELLNQ RNKEQEDIVV LKAKKKTLEF ELEALNDKKH QLEGKLQDIR 
       510        520        530        540        550
CRLTTQRQEI ESTNKSRELR IAEITHLQQQ LQESQQMLGR LIPEKQILND 
       560        570        580        590        600
QLKQVQQNSL HRDSLVTLKR ALEAKELARQ HLRDQLDEVE KETRSKLQEI 
       610        620        630        640        650
DIFNNQLKEL REIHNKQQLQ KQKSMEAERL KQKEQERKII ELEKQKEEAQ 
       660        670        680        690        700
RRAQERDKQW LEHVQQEDEH QRPRKLHEEE KLKREESVKK KDGEEKGKQE 
       710        720        730        740        750
AQDKLGRLFH QHQEPAKPAV QAPWSTAEKG PLTISAQENV KVVYYRALYP 
       760        770        780        790        800
FESRSHDEIT IQPGDIVMVK GEWVDESQTG EPGWLGGELK GKTGWFPANY 
       810        820        830        840        850
AEKIPENEVP APVKPVTDST SAPAPKLALR ETPAPLAVTS SEPSTTPNNW 
       860        870        880        890        900
ADFSSTWPTS TNEKPETDNW DAWAAQPSLT VPSAGQLRQR SAFTPATATG 
       910        920        930        940        950
SSPSPVLGQG EKVEGLQAQA LYPWRAKKDN HLNFNKNDVI TVLEQQDMWW 
       960        970        980        990       1000
FGEVQGQKGW FPKSYVKLIS GPIRKSTSMD SGSSESPASL KRVASPAAKP 
      1010       1020       1030       1040       1050
VVSGEEFIAM YTYESSEQGD LTFQQGDVIL VTKKDGDWWT GTVGDKAGVF 
      1060       1070       1080       1090       1100
PSNYVRLKDS EGSGTAGKTG SLGKKPEIAQ VIASYTATGP EQLTLAPGQL 
      1110       1120       1130       1140       1150
ILIRKKNPGG WWEGELQARG KKRQIGWFPA NYVKLLSPGT SKITPTEPPK 
      1160       1170       1180       1190       1200
STALAAVCQV IGMYDYTAQN DDELAFNKGQ IINVLNKEDP DWWKGEVNGQ 
      1210       1220       1230       1240       1250
VGLFPSNYVK LTTDMDPSQQ WCSDLHLLDM LTPTERKRQG YIHELIVTEE 
      1260       1270       1280       1290       1300
NYVNDLQLVT EIFQKPLMES ELLTEKEVAM IFVNWKELIM CNIKLLKALR 
      1310       1320       1330       1340       1350
VRKKMSGEKM PVKMIGDILS AQLPHMQPYI RFCSRQLNGA ALIQQKTDEA 
      1360       1370       1380       1390       1400
PDFKEFVKRL AMDPRCKGMP LSSFILKPMQ RVTRYPLIIK NILENTPENH 
      1410       1420       1430       1440       1450
PDHSHLKHAL EKAEELCSQV NEGVREKENS DRLEWIQAHV QCEGLSEQLV 
      1460       1470       1480       1490       1500
FNSVTNCLGP RKFLHSGKLY KAKSNKELYG FLFNDFLLLT QITKPLGSSG 
      1510       1520       1530       1540       1550
TDKVFSPKSN LQYKMYKTPI FLNEVLVKLP TDPSGDEPIF HISHIDRVYT 
      1560       1570       1580       1590       1600
LRAESINERT AWVQKIKAAS ELYIETEKKK REKAYLVRSQ RATGIGRLMV 
      1610       1620       1630       1640       1650
NVVEGIELKP CRSHGKSNPY CEVTMGSQCH ITKTIQDTLN PKWNSNCQFF 
      1660       1670       1680       1690       1700
IRDLEQEVLC ITVFERDQFS PDDFLGRTEI RVADIKKDQG SKGPVTKCLL 
      1710       1720 
LHEVPTGEIV VRLDLQLFDE P
Length:1,721
Mass (Da):195,422
Last modified:October 17, 2006 - v3
Checksum:iFC4DE644D8BEA2BE
GO
Isoform 2 (identifier: Q15811-2) [UniParc]FASTAAdd to basket
Also known as: Short, ITSN-s

The sequence of this isoform differs from the canonical sequence as follows:
     1221-1721: Missing.

Show »
Length:1,220
Mass (Da):137,649
Checksum:iB09FDBEF1C06F487
GO
Isoform 3 (identifier: Q15811-3) [UniParc]FASTAAdd to basket
Also known as: Short 2, SH3P17

The sequence of this isoform differs from the canonical sequence as follows:
     770-774: Missing.
     1006-1076: Missing.
     1221-1721: Missing.

Show »
Length:1,144
Mass (Da):129,416
Checksum:i8EEE8BE230C2F8C7
GO
Isoform 4 (identifier: Q15811-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1006-1076: Missing.

Show »
Length:1,650
Mass (Da):187,788
Checksum:i584F3A7AD02E4434
GO
Isoform 5 (identifier: Q15811-5) [UniParc]FASTAAdd to basket
Also known as: ITSN1-22a

The sequence of this isoform differs from the canonical sequence as follows:
     770-774: Missing.
     910-1025: GEKVEGLQAQ...SEQGDLTFQQ → PDFLLHPSMR...CFYLCLPHYL
     1026-1721: Missing.

Show »
Length:1,020
Mass (Da):115,873
Checksum:i53D58238CDB49BB4
GO
Isoform 6 (identifier: Q15811-6) [UniParc]FASTAAdd to basket
Also known as: Long form variant 4, Short form variant 11

The sequence of this isoform differs from the canonical sequence as follows:
     770-774: Missing.
     1006-1020: EFIAMYTYESSEQGD → GLWNCWENREFRKKT
     1021-1721: Missing.

Note: Contains a premature stop codon, potentially subjected to NMD.
Show »
Length:1,015
Mass (Da):115,477
Checksum:i7FAD870DF7E4D42E
GO
Isoform 7 (identifier: Q15811-7) [UniParc]FASTAAdd to basket
Also known as: Short form variant 5

The sequence of this isoform differs from the canonical sequence as follows:
     770-774: Missing.
     1221-1721: Missing.

Show »
Length:1,215
Mass (Da):137,049
Checksum:i9610DEBFC4781CED
GO
Isoform 8 (identifier: Q15811-8) [UniParc]FASTAAdd to basket
Also known as: Long form variant 2

The sequence of this isoform differs from the canonical sequence as follows:
     770-774: Missing.

Show »
Length:1,716
Mass (Da):194,822
Checksum:iA129042F01C34A47
GO
Isoform 9 (identifier: Q15811-9) [UniParc]FASTAAdd to basket
Also known as: Long form variant 3

The sequence of this isoform differs from the canonical sequence as follows:
     770-774: Missing.
     1392-1447: Missing.

Show »
Length:1,660
Mass (Da):188,382
Checksum:i715F81F741A346E4
GO
Isoform 10 (identifier: Q15811-10) [UniParc]FASTAAdd to basket
Also known as: Short form variant 2

The sequence of this isoform differs from the canonical sequence as follows:
     116-152: Missing.
     770-774: Missing.
     1221-1721: Missing.

Show »
Length:1,178
Mass (Da):133,560
Checksum:iA344C5964504BDB1
GO
Isoform 11 (identifier: Q15811-11) [UniParc]FASTAAdd to basket
Also known as: Short form variant 3

The sequence of this isoform differs from the canonical sequence as follows:
     116-152: Missing.
     1006-1076: Missing.
     1221-1721: Missing.

Show »
Length:1,112
Mass (Da):126,526
Checksum:iAB25F8723B3FD22A
GO
Isoform 12 (identifier: Q15811-12) [UniParc]FASTAAdd to basket
Also known as: Short form variant 10

The sequence of this isoform differs from the canonical sequence as follows:
     116-152: Missing.
     770-774: Missing.
     1006-1076: Missing.
     1221-1721: Missing.

Show »
Length:1,107
Mass (Da):125,926
Checksum:i7724CCE4FA98098A
GO
Isoform 13 (identifier: Q15811-13) [UniParc]FASTAAdd to basket
Also known as: Short form variant 14

The sequence of this isoform differs from the canonical sequence as follows:
     770-774: Missing.
     910-919: GEKVEGLQAQ → HGFWFFRESC
     920-1721: Missing.

Note: Contains a premature stop codon, potentially subjected to NMD.
Show »
Length:914
Mass (Da):104,194
Checksum:i3788E745D07FE820
GO

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W7U0F8W7U0_HUMAN
Intersectin-1
ITSN1
1,149Annotation score:
A8CTZ0A8CTZ0_HUMAN
Intersectin 1 short form variant 13
ITSN1
877Annotation score:
C9JQZ7C9JQZ7_HUMAN
Intersectin-1
ITSN1
361Annotation score:
C9J1A4C9J1A4_HUMAN
Intersectin-1
ITSN1
115Annotation score:
C9JXS9C9JXS9_HUMAN
Intersectin-1
ITSN1
78Annotation score:
D6PAW0D6PAW0_HUMAN
Intersectin 1 short form A variant ...
ITSN1
237Annotation score:
H0Y523H0Y523_HUMAN
Intersectin-1
ITSN1
260Annotation score:
H0Y3G5H0Y3G5_HUMAN
Intersectin-1
ITSN1
317Annotation score:
Q6J334Q6J334_HUMAN
Intersectin 1 isoform 10
ITSN1
173Annotation score:
H0Y6W3H0Y6W3_HUMAN
Intersectin-1
ITSN1
66Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AAC50592 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti114A → P in AAC78610 (PubMed:9799604).Curated1
Sequence conflicti114A → P in AAC78611 (PubMed:9799604).Curated1
Sequence conflicti114A → P in ABG74695 (PubMed:19777371).Curated1
Sequence conflicti114A → P in ABG74697 (PubMed:19777371).Curated1
Sequence conflicti114A → P in ABG74698 (PubMed:19777371).Curated1
Sequence conflicti863E → G in ABD72328 (PubMed:21712076).Curated1
Sequence conflicti1088T → A in AAD53183 (Ref. 9) Curated1
Sequence conflicti1109G → R in AAD53183 (Ref. 9) Curated1
Sequence conflicti1361A → E in AAC78611 (PubMed:9799604).Curated1
Sequence conflicti1361A → E in AAC50592 (PubMed:9630982).Curated1
Sequence conflicti1367K → R in AAI16187 (PubMed:15489334).Curated1
Sequence conflicti1474S → N in AAC78611 (PubMed:9799604).Curated1
Sequence conflicti1474S → N in AAC50592 (PubMed:9630982).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0700111137S → N2 PublicationsCorresponds to variant dbSNP:rs187895245Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_053317116 – 152Missing in isoform 10, isoform 11 and isoform 12. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_004293770 – 774Missing in isoform 3, isoform 5, isoform 6, isoform 7, isoform 8, isoform 9, isoform 10, isoform 12 and isoform 13. 6 Publications5
Alternative sequenceiVSP_047460910 – 1025GEKVE…LTFQQ → PDFLLHPSMRLGHMQPRIVL LFPDPLQCSTSRLLPMLRPR PGVPFLRSPSCQSPSHPSRP ISDAAPSVKFTLMPPGRIHP CFLFIPAVNSRNSFLVYFIL PGGTLGCFYLCLPHYL in isoform 5. 1 PublicationAdd BLAST116
Alternative sequenceiVSP_053318910 – 919GEKVEGLQAQ → HGFWFFRESC in isoform 13. Curated10
Alternative sequenceiVSP_053319920 – 1721Missing in isoform 13. CuratedAdd BLAST802
Alternative sequenceiVSP_0042941006 – 1076Missing in isoform 3, isoform 4, isoform 11 and isoform 12. 4 PublicationsAdd BLAST71
Alternative sequenceiVSP_0533201006 – 1020EFIAM…SEQGD → GLWNCWENREFRKKT in isoform 6. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_0533211021 – 1721Missing in isoform 6. 1 PublicationAdd BLAST701
Alternative sequenceiVSP_0474611026 – 1721Missing in isoform 5. 1 PublicationAdd BLAST696
Alternative sequenceiVSP_0042951221 – 1721Missing in isoform 2, isoform 3, isoform 7, isoform 10, isoform 11 and isoform 12. 7 PublicationsAdd BLAST501
Alternative sequenceiVSP_0533221392 – 1447Missing in isoform 9. 1 PublicationAdd BLAST56

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF064244 mRNA Translation: AAC78611.1
AF064247, AF064245, AF064246 Genomic DNA Translation: AAC80437.1
AF064243 mRNA Translation: AAC78610.1
AF114488 mRNA Translation: AAD29953.1
AF114487 mRNA Translation: AAD29952.1
DQ679754 mRNA Translation: ABG74695.1
DQ679756 mRNA Translation: ABG74697.1
DQ679757 mRNA Translation: ABG74698.1
EU117382 mRNA Translation: ABV21755.1
EU140799 mRNA Translation: ABV58335.1
EU140800 mRNA Translation: ABV58336.1
EU120733 mRNA Translation: ABV24866.1
EU120734 mRNA Translation: ABV24867.1
EU120735 mRNA Translation: ABV24868.1
EU152331 mRNA Translation: ABV69555.1
DQ386455 mRNA Translation: ABD72328.1
AK300274 mRNA Translation: BAG62034.1
AP000308 Genomic DNA No translation available.
AP000309 Genomic DNA No translation available.
AP000310 Genomic DNA No translation available.
AP000311 Genomic DNA No translation available.
AP000312 Genomic DNA No translation available.
AP000313 Genomic DNA No translation available.
BC117560 mRNA Translation: AAI17561.1
BC116186 mRNA Translation: AAI16187.1
U61166 mRNA Translation: AAC50592.1 Different initiation.
AF180522 mRNA Translation: AAD53183.1
CCDSiCCDS33545.1 [Q15811-1]
CCDS33546.1 [Q15811-2]
CCDS82663.1 [Q15811-7]
CCDS82664.1 [Q15811-8]
CCDS82665.1 [Q15811-3]
CCDS82666.1 [Q15811-10]
RefSeqiNP_001001132.1, NM_001001132.1 [Q15811-2]
NP_001317938.1, NM_001331009.1 [Q15811-7]
NP_001317939.1, NM_001331010.1 [Q15811-8]
NP_001317940.1, NM_001331011.1 [Q15811-3]
NP_001317941.1, NM_001331012.1 [Q15811-10]
NP_003015.2, NM_003024.2 [Q15811-1]
XP_011527994.1, XM_011529692.1 [Q15811-12]
XP_011527995.1, XM_011529693.2 [Q15811-5]
XP_016883917.1, XM_017028428.1 [Q15811-1]
XP_016883921.1, XM_017028432.1 [Q15811-9]
XP_016883922.1, XM_017028433.1 [Q15811-4]
XP_016883929.1, XM_017028440.1 [Q15811-11]
UniGeneiHs.160324
Hs.725942
Hs.90221

Genome annotation databases

EnsembliENST00000381291; ENSP00000370691; ENSG00000205726 [Q15811-2]
ENST00000381318; ENSP00000370719; ENSG00000205726 [Q15811-1]
ENST00000399338; ENSP00000382275; ENSG00000205726 [Q15811-5]
ENST00000399349; ENSP00000382286; ENSG00000205726 [Q15811-3]
ENST00000399352; ENSP00000382289; ENSG00000205726 [Q15811-7]
ENST00000399353; ENSP00000382290; ENSG00000205726 [Q15811-10]
ENST00000399367; ENSP00000382301; ENSG00000205726 [Q15811-8]
GeneIDi6453
KEGGihsa:6453
UCSCiuc002ysw.4 human [Q15811-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF064244 mRNA Translation: AAC78611.1
AF064247, AF064245, AF064246 Genomic DNA Translation: AAC80437.1
AF064243 mRNA Translation: AAC78610.1
AF114488 mRNA Translation: AAD29953.1
AF114487 mRNA Translation: AAD29952.1
DQ679754 mRNA Translation: ABG74695.1
DQ679756 mRNA Translation: ABG74697.1
DQ679757 mRNA Translation: ABG74698.1
EU117382 mRNA Translation: ABV21755.1
EU140799 mRNA Translation: ABV58335.1
EU140800 mRNA Translation: ABV58336.1
EU120733 mRNA Translation: ABV24866.1
EU120734 mRNA Translation: ABV24867.1
EU120735 mRNA Translation: ABV24868.1
EU152331 mRNA Translation: ABV69555.1
DQ386455 mRNA Translation: ABD72328.1
AK300274 mRNA Translation: BAG62034.1
AP000308 Genomic DNA No translation available.
AP000309 Genomic DNA No translation available.
AP000310 Genomic DNA No translation available.
AP000311 Genomic DNA No translation available.
AP000312 Genomic DNA No translation available.
AP000313 Genomic DNA No translation available.
BC117560 mRNA Translation: AAI17561.1
BC116186 mRNA Translation: AAI16187.1
U61166 mRNA Translation: AAC50592.1 Different initiation.
AF180522 mRNA Translation: AAD53183.1
CCDSiCCDS33545.1 [Q15811-1]
CCDS33546.1 [Q15811-2]
CCDS82663.1 [Q15811-7]
CCDS82664.1 [Q15811-8]
CCDS82665.1 [Q15811-3]
CCDS82666.1 [Q15811-10]
RefSeqiNP_001001132.1, NM_001001132.1 [Q15811-2]
NP_001317938.1, NM_001331009.1 [Q15811-7]
NP_001317939.1, NM_001331010.1 [Q15811-8]
NP_001317940.1, NM_001331011.1 [Q15811-3]
NP_001317941.1, NM_001331012.1 [Q15811-10]
NP_003015.2, NM_003024.2 [Q15811-1]
XP_011527994.1, XM_011529692.1 [Q15811-12]
XP_011527995.1, XM_011529693.2 [Q15811-5]
XP_016883917.1, XM_017028428.1 [Q15811-1]
XP_016883921.1, XM_017028432.1 [Q15811-9]
XP_016883922.1, XM_017028433.1 [Q15811-4]
XP_016883929.1, XM_017028440.1 [Q15811-11]
UniGeneiHs.160324
Hs.725942
Hs.90221

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1KI1X-ray2.30B/D1229-1581[»]
2KGRNMR-A210-312[»]
2KHNNMR-A1-111[»]
3FIAX-ray1.45A1-111[»]
3QBVX-ray2.65B/D1229-1579[»]
4IIMX-ray1.80A/B916-970[»]
5HZIX-ray2.60A/B1230-1580[»]
5HZJX-ray2.60A/B1230-1580[»]
5HZKX-ray3.30B/D1230-1580[»]
6GBUX-ray3.44B/D/F/H1074-1138[»]
ProteinModelPortaliQ15811
SMRiQ15811
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112351, 133 interactors
DIPiDIP-33609N
IntActiQ15811, 50 interactors
MINTiQ15811
STRINGi9606.ENSP00000370719

PTM databases

iPTMnetiQ15811
PhosphoSitePlusiQ15811

Polymorphism and mutation databases

BioMutaiITSN1
DMDMi116242596

Proteomic databases

EPDiQ15811
MaxQBiQ15811
PaxDbiQ15811
PeptideAtlasiQ15811
PRIDEiQ15811
ProteomicsDBi60768
60769 [Q15811-2]
60770 [Q15811-3]
60771 [Q15811-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381291; ENSP00000370691; ENSG00000205726 [Q15811-2]
ENST00000381318; ENSP00000370719; ENSG00000205726 [Q15811-1]
ENST00000399338; ENSP00000382275; ENSG00000205726 [Q15811-5]
ENST00000399349; ENSP00000382286; ENSG00000205726 [Q15811-3]
ENST00000399352; ENSP00000382289; ENSG00000205726 [Q15811-7]
ENST00000399353; ENSP00000382290; ENSG00000205726 [Q15811-10]
ENST00000399367; ENSP00000382301; ENSG00000205726 [Q15811-8]
GeneIDi6453
KEGGihsa:6453
UCSCiuc002ysw.4 human [Q15811-1]

Organism-specific databases

CTDi6453
DisGeNETi6453
EuPathDBiHostDB:ENSG00000205726.13
GeneCardsiITSN1
HGNCiHGNC:6183 ITSN1
HPAiHPA018007
MIMi602442 gene
neXtProtiNX_Q15811
OpenTargetsiENSG00000205726
PharmGKBiPA29981
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1029 Eukaryota
KOG4305 Eukaryota
COG5422 LUCA
GeneTreeiENSGT00760000118985
HOGENOMiHOG000010175
HOVERGENiHBG052159
InParanoidiQ15811
KOiK20045
OMAiEYIAMYT
OrthoDBiEOG091G0TXR
PhylomeDBiQ15811
TreeFamiTF324293

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-3928662 EPHB-mediated forward signaling
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
SignaLinkiQ15811
SIGNORiQ15811

Miscellaneous databases

ChiTaRSiITSN1 human
EvolutionaryTraceiQ15811
GeneWikiiITSN1
GenomeRNAii6453
PROiPR:Q15811
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205726 Expressed in 238 organ(s), highest expression level in adipose tissue of abdominal region
CleanExiHS_ITSN1
ExpressionAtlasiQ15811 baseline and differential
GenevisibleiQ15811 HS

Family and domain databases

CDDicd00052 EH, 2 hits
cd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR000261 EH_dom
IPR001331 GDS_CDC24_CS
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF12763 EF-hand_4, 2 hits
PF16652 PH_13, 1 hit
PF00621 RhoGEF, 1 hit
PF00018 SH3_1, 3 hits
PF14604 SH3_9, 2 hits
PRINTSiPR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00054 EFh, 2 hits
SM00027 EH, 2 hits
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SM00326 SH3, 5 hits
SUPFAMiSSF47473 SSF47473, 2 hits
SSF48065 SSF48065, 1 hit
SSF50044 SSF50044, 5 hits
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit
PS00741 DH_1, 1 hit
PS50010 DH_2, 1 hit
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 2 hits
PS50031 EH, 2 hits
PS50003 PH_DOMAIN, 1 hit
PS50002 SH3, 5 hits
ProtoNetiSearch...

Entry informationi

Entry nameiITSN1_HUMAN
AccessioniPrimary (citable) accession number: Q15811
Secondary accession number(s): A7Y322
, A8CTX8, A8CTY3, A8CTY7, A8D7D0, A8DCP3, B4DTM2, E7ERJ1, E9PE44, E9PG01, E9PHV2, O95216, Q0PW94, Q0PW95, Q0PW97, Q14BD3, Q1ED40, Q20BK3, Q9UET5, Q9UK60, Q9UNK1, Q9UNK2, Q9UQ92
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 200 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

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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