RNF168 (ring finger protein 168)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
165918 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Ring finger protein 168 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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RNF168 |
SynonymsGene synonyms aliases
|
RIDL, hRNF168 |
ChromosomeChromosome number
|
3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3q29 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-st |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs148275050 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs201915239 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
rs1047608955 |
GTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1577516447 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000151 |
Component |
Ubiquitin ligase complex |
IDA |
19203578, 19203579 |
GO:0003682 |
Function |
Chromatin binding |
IDA |
19203578, 19203579, 19500350 |
GO:0004842 |
Function |
Ubiquitin-protein transferase activity |
IDA |
19203578, 19203579, 19500350, 22373579, 22980979 |
GO:0004842 |
Function |
Ubiquitin-protein transferase activity |
IMP |
23760478 |
GO:0005515 |
Function |
Protein binding |
IPI |
15231748, 19203578, 22373579, 26503038, 32296183, 32814053 |
GO:0005634 |
Component |
Nucleus |
IDA |
19203578, 19203579 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0006302 |
Process |
Double-strand break repair |
IDA |
19203578, 19203579, 22980979 |
GO:0006303 |
Process |
Double-strand break repair via nonhomologous end joining |
TAS |
|
GO:0006511 |
Process |
Ubiquitin-dependent protein catabolic process |
IDA |
22373579 |
GO:0006974 |
Process |
Cellular response to DNA damage stimulus |
IDA |
19500350, 20550933, 22373579, 22508508, 22980979 |
GO:0010212 |
Process |
Response to ionizing radiation |
IDA |
19203578, 19203579 |
GO:0016567 |
Process |
Protein ubiquitination |
IDA |
22373579 |
GO:0031491 |
Function |
Nucleosome binding |
IDA |
22742833 |
GO:0032991 |
Component |
Protein-containing complex |
IDA |
24217620 |
GO:0034244 |
Process |
Negative regulation of transcription elongation from RNA polymerase II promoter |
IMP |
20550933 |
GO:0035518 |
Process |
Histone H2A monoubiquitination |
IDA |
22980979 |
GO:0035518 |
Process |
Histone H2A monoubiquitination |
IMP |
23760478 |
GO:0035861 |
Component |
Site of double-strand break |
IDA |
19500350, 21041483 |
GO:0036297 |
Process |
Interstrand cross-link repair |
TAS |
22705371 |
GO:0036351 |
Process |
Histone H2A-K13 ubiquitination |
IDA |
22980979 |
GO:0036352 |
Process |
Histone H2A-K15 ubiquitination |
IDA |
22980979 |
GO:0036352 |
Process |
Histone H2A-K15 ubiquitination |
IMP |
23760478 |
GO:0042393 |
Function |
Histone binding |
IDA |
19203578, 19203579 |
GO:0042393 |
Function |
Histone binding |
IMP |
23760478 |
GO:0043130 |
Function |
Ubiquitin binding |
IDA |
19203578, 19203579 |
GO:0045190 |
Process |
Isotype switching |
ISS |
|
GO:0045739 |
Process |
Positive regulation of DNA repair |
IDA |
19203578, 19203579 |
GO:0045739 |
Process |
Positive regulation of DNA repair |
IMP |
23760478 |
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:0070530 |
Function |
K63-linked polyubiquitin modification-dependent protein binding |
IDA |
19500350, 21041483, 22742833 |
GO:0070534 |
Process |
Protein K63-linked ubiquitination |
IDA |
22266820 |
GO:0070535 |
Process |
Histone H2A K63-linked ubiquitination |
IDA |
19203578, 19203579, 19500350 |
GO:0070535 |
Process |
Histone H2A K63-linked ubiquitination |
IMP |
20550933 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q8IYW5 |
Protein name |
E3 ubiquitin-protein ligase RNF168 (hRNF168) (EC 2.3.2.27) (RING finger protein 168) (RING-type E3 ubiquitin transferase RNF168) |
Protein function |
E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by bindi |
PDB |
3L11
,
4GB0
,
5XIS
,
5XIT
,
5XIU
,
5YDK
,
8SMW
,
8SMX
,
8SMY
,
8SMZ
,
8SN0
,
8SN1
,
8SN2
,
8SN3
,
8SN4
,
8SN5
,
8SN6
,
8SN7
,
8SN8
,
8SN9
,
8SNA
,
8TXV
,
8TXW
,
8TXX
,
8U13
,
8U14
,
8UPF
,
8UQ8
,
8UQ9
,
8UQA
,
8UQB
,
8UQC
,
8UQD
,
8UQE
,
8X7I
,
8X7J
,
8X7K
,
9IPU
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF14447 |
Prok-RING_4 |
16 → 64 |
|
Family |
|
Sequence |
MALPKDAIPSLSECQCGICMEILVEPVTLPCNHTLCKPCFQSTVEKASLCCPFCRRRVSS WTRYHTRRNSLVNVELWTIIQKHYPRECKLRASGQESEEVADDYQPVRLLSKPGELRREY EEEISKVAAERRASEEEENKASEEYIQRLLAEEEEEEKRQAEKRRRAMEEQLKSDEELAR KLSIDINNFCEGSISASPLNSRKSDPVTPKSEKKSKNKQRNTGDIQKYLTPKSQFGSASH SEAVQEVRKDSVSKDIDSSDRKSPTGQDTEIEDMPTLSPQISLGVGEQGADSSIESPMPW LCACGAEWYHEGNVKTRPSNHGKELCVLSHERPKTRVPYSKETAVMPCGRTESGCAPTSG VTQTNGNNTGETENEESCLLISKEISKRKNQESSFEAVKDPCFSAKRRKVSPESSPDQEE TEINFTQKLIDLEHLLFERHKQEEQDRLLALQLQKEVDKEQMVPNRQKGSPDEYHLRATS SPPDKVLNGQRKNPKDGNFKRQTHTKHPTPERGSRDKNRQVSLKMQLKQSVNRRKMPNST RDHCKVSKSAHSLQPSISQKSVFQMFQRCTK
|
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Sequence length |
571 |
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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Arthritis |
Arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
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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 |
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Microcephaly |
Microcephaly |
rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357 |
|
Pulmonary fibrosis |
Pulmonary Fibrosis |
rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578 |
|
Riddle syndrome |
Riddle Syndrome |
rs1577516447, rs1047608955, rs201915239, rs148275050 |
17940005, 21394101, 19203578, 29255463 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Bronchitis |
Bronchitis |
|
|
Conjunctival telangiectasis |
Conjunctival telangiectasis |
|
|
Demyelinating neuropathy |
Peripheral demyelinating neuropathy |
|
|
Dwarfism |
Dwarfism |
|
|
Enlarged lymph nodes |
Generalized enlarged lymph nodes |
|
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Immunologic deficiency syndromes |
Immunologic Deficiency Syndromes |
|
|
Lung diseases |
Lung Diseases, Interstitial |
|
|
Mood swings |
Mood swings |
|
|
Nocturnal enuresis |
Bedwetting |
|
|
Otitis media |
Otitis Media |
rs601338, rs1047781, rs1800028 |
|
Postnatal asphyxia |
Asphyxia Neonatorum |
|
|
Respiratory failure |
Respiratory Failure |
|
|
Sinusitis |
Chronic sinusitis, Recurrent sinusitis |
|
|
Specific learning disorder |
Specific learning disability |
rs1057519497 |
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