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Protein

Intersectin-1

Gene

ITSN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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: UniProtKB
  • kinase activator activity Source: Ensembl
  • proline-rich region binding Source: UniProtKB
  • protein complex scaffold Source: UniProtKB
  • Rho guanyl-nucleotide exchange factor activity Source: Reactome

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Endocytosis

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:G66-33565-MONOMER.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:6183. ITSN1.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • clathrin-coated pit Source: UniProtKB
  • cytosol Source: Reactome
  • endocytic vesicle Source: Ensembl
  • lamellipodium Source: UniProtKB-SubCell
  • neuron projection Source: UniProtKB-SubCell
  • plasma membrane Source: UniProtKB
  • synapse Source: UniProtKB-KW
Complete GO annotation...

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.

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.
CleanExiHS_ITSN1.
ExpressionAtlasiQ15811. baseline and differential.
GenevisibleiQ15811. HS.

Organism-specific databases

HPAiHPA018007.

Interactioni

Subunit structurei

Interacts with dynamin, CDC42, SNAP25 and SNAP23. 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. Interacts (via SH3 domains) with REPS1 and SGIP1. Interacts with ARHGAP31. Interacts with ADAM15.7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CBLP2268112EBI-602041,EBI-518228
CDC42P60953-12EBI-602041,EBI-3625591
DISC1Q9NRI53EBI-602041,EBI-529989
DNM2P505702EBI-602041,EBI-346547
EPS15P425662EBI-602041,EBI-396684
Fcho2Q3UQN23EBI-602041,EBI-6094986From a different organism.
INPPL1O153579EBI-8052395,EBI-1384248
Sh3kbp1Q925Q94EBI-8052395,EBI-8020091From a different organism.

GO - Molecular functioni

  • proline-rich region binding Source: UniProtKB
  • protein complex scaffold Source: UniProtKB

Protein-protein interaction databases

BioGridi112351. 132 interactors.
DIPiDIP-33609N.
IntActiQ15811. 47 interactors.
MINTiMINT-130199.
STRINGi9606.ENSP00000370719.

Structurei

Secondary structure

11721
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni12 – 14Combined sources3
Helixi19 – 31Combined sources13
Beta strandi35 – 37Combined sources3
Beta strandi38 – 40Combined sources3
Helixi41 – 48Combined sources8
Helixi49 – 51Combined sources3
Helixi55 – 65Combined sources11
Beta strandi70 – 73Combined sources4
Helixi75 – 89Combined sources15
Helixi100 – 102Combined sources3
Beta strandi215 – 217Combined sources3
Helixi219 – 230Combined sources12
Beta strandi239 – 241Combined sources3
Helixi242 – 250Combined sources9
Helixi256 – 266Combined sources11
Beta strandi272 – 275Combined sources4
Helixi276 – 290Combined sources15
Helixi301 – 303Combined sources3
Turni306 – 309Combined sources4
Beta strandi916 – 922Combined sources7
Beta strandi939 – 945Combined sources7
Beta strandi947 – 954Combined sources8
Beta strandi957 – 962Combined sources6
Helixi963 – 965Combined sources3
Beta strandi966 – 969Combined sources4
Helixi1233 – 1262Combined sources30
Helixi1264 – 1269Combined sources6
Beta strandi1271 – 1273Combined sources3
Helixi1275 – 1282Combined sources8
Helixi1285 – 1306Combined sources22
Beta strandi1308 – 1310Combined sources3
Helixi1316 – 1322Combined sources7
Helixi1323 – 1327Combined sources5
Helixi1328 – 1349Combined sources22
Helixi1351 – 1361Combined sources11
Helixi1364 – 1366Combined sources3
Helixi1371 – 1374Combined sources4
Helixi1377 – 1393Combined sources17
Helixi1403 – 1437Combined sources35
Beta strandi1451 – 1454Combined sources4
Beta strandi1456 – 1460Combined sources5
Beta strandi1463 – 1466Combined sources4
Beta strandi1472 – 1474Combined sources3
Beta strandi1479 – 1493Combined sources15
Beta strandi1511 – 1513Combined sources3
Helixi1522 – 1524Combined sources3
Beta strandi1525 – 1528Combined sources4
Beta strandi1531 – 1533Combined sources3
Beta strandi1541 – 1544Combined sources4
Beta strandi1547 – 1550Combined sources4
Helixi1556 – 1577Combined sources22

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[»]
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

Sequence similaritiesi

Contains 1 C2 domain.PROSITE-ProRule annotation
Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
Contains 2 EF-hand domains.PROSITE-ProRule annotation
Contains 2 EH domains.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation
Contains 5 SH3 domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, SH3 domain

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
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_dom-like.
IPR001849. PH_domain.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00168. 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.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00239. C2. 1 hit.
SM00054. EFh. 2 hits.
SM00027. EH. 2 hits.
SM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
SM00326. SH3. 5 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 2 hits.
SSF48065. SSF48065. 1 hit.
SSF49562. SSF49562. 1 hit.
SSF50044. SSF50044. 5 hits.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50004. 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.
[Graphical view]

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
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

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 → N.2 PublicationsCorresponds to variant rs187895245dbSNPEnsembl.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.
NP_001317939.1. NM_001331010.1.
NP_001317940.1. NM_001331011.1.
NP_001317941.1. NM_001331012.1.
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

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.
NP_001317939.1. NM_001331010.1.
NP_001317940.1. NM_001331011.1.
NP_001317941.1. NM_001331012.1.
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[»]
ProteinModelPortaliQ15811.
SMRiQ15811.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112351. 132 interactors.
DIPiDIP-33609N.
IntActiQ15811. 47 interactors.
MINTiMINT-130199.
STRINGi9606.ENSP00000370719.

PTM databases

iPTMnetiQ15811.
PhosphoSitePlusiQ15811.

Polymorphism and mutation databases

BioMutaiITSN1.
DMDMi116242596.

Proteomic databases

EPDiQ15811.
MaxQBiQ15811.
PaxDbiQ15811.
PeptideAtlasiQ15811.
PRIDEiQ15811.

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.
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.
OMAiVMVKGEW.
OrthoDBiEOG091G0TXR.
PhylomeDBiQ15811.
TreeFamiTF324293.

Enzyme and pathway databases

BioCyciZFISH:G66-33565-MONOMER.
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

EvolutionaryTraceiQ15811.
GeneWikiiITSN1.
GenomeRNAii6453.
PROiQ15811.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205726.
CleanExiHS_ITSN1.
ExpressionAtlasiQ15811. baseline and differential.
GenevisibleiQ15811. HS.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
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_dom-like.
IPR001849. PH_domain.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00168. 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.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00239. C2. 1 hit.
SM00054. EFh. 2 hits.
SM00027. EH. 2 hits.
SM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
SM00326. SH3. 5 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 2 hits.
SSF48065. SSF48065. 1 hit.
SSF49562. SSF49562. 1 hit.
SSF50044. SSF50044. 5 hits.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50004. 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.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: November 30, 2016
This is version 180 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

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.