ITCH (itchy E3 ubiquitin protein ligase)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
83737 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Itchy E3 ubiquitin protein ligase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
ITCH |
SynonymsGene synonyms aliases
|
ADMFD, AIF4, AIP4, NAPP1 |
ChromosomeChromosome number
|
20 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20q11.22 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs587776592 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000209 |
Process |
Protein polyubiquitination |
IBA |
21873635 |
GO:0001558 |
Process |
Regulation of cell growth |
NAS |
9462742 |
GO:0004842 |
Function |
Ubiquitin-protein transferase activity |
IDA |
17592138 |
GO:0004842 |
Function |
Ubiquitin-protein transferase activity |
IMP |
24790097 |
GO:0004842 |
Function |
Ubiquitin-protein transferase activity |
NAS |
10940313 |
GO:0005515 |
Function |
Protein binding |
IPI |
9647693, 15678106, 16888620, 16908849, 17028573, 17174309, 17592138, 19580544, 20068034, 20392206, 20491914, 20676133, 20818436, 20858735, 22009753, 22057290, 22810586, 23146885, 23236378, 24790097, 25436413, 28514442 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005769 |
Component |
Early endosome |
IDA |
24790097 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IDA |
14602072 |
GO:0006511 |
Process |
Ubiquitin-dependent protein catabolic process |
IDA |
15678106 |
GO:0006511 |
Process |
Ubiquitin-dependent protein catabolic process |
IMP |
22009753, 25518932 |
GO:0006511 |
Process |
Ubiquitin-dependent protein catabolic process |
NAS |
9462742 |
GO:0006915 |
Process |
Apoptotic process |
IEA |
|
GO:0006954 |
Process |
Inflammatory response |
NAS |
9462742 |
GO:0007219 |
Process |
Notch signaling pathway |
TAS |
|
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016567 |
Process |
Protein ubiquitination |
IBA |
21873635 |
GO:0016567 |
Process |
Protein ubiquitination |
IDA |
17592138, 25631046 |
GO:0016567 |
Process |
Protein ubiquitination |
IMP |
24790097 |
GO:0031410 |
Component |
Cytoplasmic vesicle |
IDA |
22009753 |
GO:0031901 |
Component |
Early endosome membrane |
IEA |
|
GO:0032088 |
Process |
Negative regulation of NF-kappaB transcription factor activity |
ISS |
|
GO:0032480 |
Process |
Negative regulation of type I interferon production |
TAS |
|
GO:0032991 |
Component |
Protein-containing complex |
IDA |
24790097 |
GO:0035519 |
Process |
Protein K29-linked ubiquitination |
IBA |
21873635 |
GO:0035519 |
Process |
Protein K29-linked ubiquitination |
IDA |
17028573, 18628966 |
GO:0043021 |
Function |
Ribonucleoprotein complex binding |
IPI |
19881509 |
GO:0043066 |
Process |
Negative regulation of apoptotic process |
IMP |
20068034 |
GO:0043161 |
Process |
Proteasome-mediated ubiquitin-dependent protein catabolic process |
IBA |
21873635 |
GO:0043161 |
Process |
Proteasome-mediated ubiquitin-dependent protein catabolic process |
IMP |
22009753 |
GO:0043231 |
Component |
Intracellular membrane-bounded organelle |
IDA |
|
GO:0044389 |
Function |
Ubiquitin-like protein ligase binding |
IPI |
24790097 |
GO:0045087 |
Process |
Innate immune response |
IEA |
|
GO:0045236 |
Function |
CXCR chemokine receptor binding |
IPI |
19116316 |
GO:0045732 |
Process |
Positive regulation of protein catabolic process |
IBA |
21873635 |
GO:0046329 |
Process |
Negative regulation of JNK cascade |
ISS |
|
GO:0046718 |
Process |
Viral entry into host cell |
TAS |
12450395 |
GO:0050687 |
Process |
Negative regulation of defense response to virus |
IMP |
19881509 |
GO:0051607 |
Process |
Defense response to virus |
IEA |
|
GO:0051865 |
Process |
Protein autoubiquitination |
IMP |
24790097 |
GO:0061630 |
Function |
Ubiquitin protein ligase activity |
IBA |
21873635 |
GO:0061630 |
Function |
Ubiquitin protein ligase activity |
IDA |
15678106 |
GO:0061630 |
Function |
Ubiquitin protein ligase activity |
IMP |
22009753 |
GO:0061630 |
Function |
Ubiquitin protein ligase activity |
TAS |
|
GO:0070062 |
Component |
Extracellular exosome |
HDA |
23533145 |
GO:0070423 |
Process |
Nucleotide-binding oligomerization domain containing signaling pathway |
TAS |
|
GO:0070534 |
Process |
Protein K63-linked ubiquitination |
IBA |
21873635 |
GO:0070534 |
Process |
Protein K63-linked ubiquitination |
IDA |
18718448, 19592251 |
GO:0070936 |
Process |
Protein K48-linked ubiquitination |
IBA |
21873635 |
GO:0070936 |
Process |
Protein K48-linked ubiquitination |
IDA |
19881509, 30328013 |
GO:0090085 |
Process |
Regulation of protein deubiquitination |
ISS |
|
GO:1902036 |
Process |
Regulation of hematopoietic stem cell differentiation |
TAS |
|
GO:1990763 |
Function |
Arrestin family protein binding |
IPI |
23886940 |
GO:2000646 |
Process |
Positive regulation of receptor catabolic process |
IMP |
24790097 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q96J02 |
Protein name |
E3 ubiquitin-protein ligase Itchy homolog (Itch) (EC 2.3.2.26) (Atrophin-1-interacting protein 4) (AIP4) (HECT-type E3 ubiquitin transferase Itchy homolog) (NFE2-associated polypeptide 1) (NAPP1) |
Protein function |
Acts as an Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:11046148, PubMed:14602072, PubM |
PDB |
2DMV
,
2KYK
,
2NQ3
,
2P4R
,
2YSF
,
3TUG
,
4ROF
,
5C7M
,
5CQ2
,
5DWS
,
5DZD
,
5SXP
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00168 |
C2 |
18 → 116 |
C2 domain |
Domain |
PF00397 |
WW |
328 → 357 |
WW domain |
Domain |
PF00397 |
WW |
360 → 389 |
WW domain |
Domain |
PF00397 |
WW |
440 → 469 |
WW domain |
Domain |
PF00397 |
WW |
480 → 509 |
WW domain |
Domain |
PF00632 |
HECT |
598 → 903 |
HECT-domain (ubiquitin-transferase) |
Domain |
|
Sequence |
|
Sequence length |
903 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
|
Diabetes mellitus |
Diabetes Mellitus, Insulin-Dependent |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 |
|
Hypothyroidism |
Hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 |
|
Liver failure |
Liver Failure, Acute |
rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 |
|
Macrocephaly |
Relative macrocephaly |
rs786204854, rs764333096, rs1557739557 |
|
Narcolepsy |
Narcolepsy |
rs104894574, rs387906655 |
19629137 |
Pancytopenia |
Pancytopenia |
rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820 |
|
Syndromic multisystem autoimmune disease |
Syndromic multisystem autoimmune disease due to ITCH deficiency |
rs587776592 |
27322655 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Choanal atresia |
Choanal Atresia |
|
|
Cholangitis |
Cholangitis |
|
|
Cirrhosis |
Cirrhosis |
rs119465999, rs144369314, rs8056684, rs112053857, rs75998507 |
|
Clinodactyly |
Clinodactyly of fingers, Clinodactyly |
|
|
Congenital camptodactyly |
Congenital Camptodactyly |
|
|
Dolichocephaly |
Long narrow head |
|
|
Frontal bossing |
Frontal bossing |
|
|
Hypersplenism |
Hypersplenism |
|
|
Lung diseases |
Chronic lung disease |
|
|
Multisystem autoimmune disease with facial dysmorphism |
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM |
|
27322655, 20170897 |
Portal hypertension |
Portal Hypertension |
|
|
Posteriorly rotated ear |
Posteriorly rotated ear |
|
|
Proptosis |
Exophthalmos |
|
|
Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
|
Thyroiditis |
Thyroiditis |
|
|
|
|
|