Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23352
Gene name Gene Name - the full gene name approved by the HGNC.	Ubiquitin protein ligase E3 component n-recognin 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	UBR4
Synonyms (NCBI Gene) Gene synonyms aliases	RBAF600, ZUBR1, p600
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.13
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in t

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144709443	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs747867083	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs748323629	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs761960636	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs776593168	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020486	hsa-miR-155-5p	Proteomics	18668040
MIRT021907	hsa-miR-128-3p	Sequencing	20371350
MIRT025219	hsa-miR-34a-5p	Proteomics	21566225
MIRT025219	hsa-miR-34a-5p	Proteomics	21566225
MIRT025219	hsa-miR-34a-5p	Proteomics	21566225
MIRT050176	hsa-miR-26a-5p	CLASH	23622248
MIRT045339	hsa-miR-185-5p	CLASH	23622248
MIRT043973	hsa-miR-378a-5p	CLASH	23622248
MIRT038352	hsa-miR-296-3p	CLASH	23622248
MIRT038352	hsa-miR-296-3p	CLASH	23622248
MIRT037272	hsa-miR-877-5p	CLASH	23622248
MIRT037028	hsa-miR-877-3p	CLASH	23622248
MIRT050176	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT726189	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT020486	hsa-miR-155-5p	PAR-CLIP	26701625
MIRT020486	hsa-miR-155-5p	PAR-CLIP	26701625
MIRT1471481	hsa-miR-103b	CLIP-seq
MIRT1471482	hsa-miR-127-5p	CLIP-seq
MIRT1471483	hsa-miR-1297	CLIP-seq
MIRT1471484	hsa-miR-135a	CLIP-seq
MIRT1471485	hsa-miR-135b	CLIP-seq
MIRT1471486	hsa-miR-138	CLIP-seq
MIRT1471487	hsa-miR-224	CLIP-seq
MIRT1471488	hsa-miR-26a	CLIP-seq
MIRT1471489	hsa-miR-26b	CLIP-seq
MIRT1471490	hsa-miR-3152-3p	CLIP-seq
MIRT1471491	hsa-miR-3614-5p	CLIP-seq
MIRT1471492	hsa-miR-3940-5p	CLIP-seq
MIRT1471493	hsa-miR-4465	CLIP-seq
MIRT1471494	hsa-miR-4507	CLIP-seq
MIRT1471495	hsa-miR-548q	CLIP-seq
MIRT1471496	hsa-miR-576-3p	CLIP-seq
MIRT1471497	hsa-miR-577	CLIP-seq
MIRT1471498	hsa-miR-767-5p	CLIP-seq
MIRT1471482	hsa-miR-127-5p	CLIP-seq
MIRT1471483	hsa-miR-1297	CLIP-seq
MIRT1471487	hsa-miR-224	CLIP-seq
MIRT1471488	hsa-miR-26a	CLIP-seq
MIRT1471489	hsa-miR-26b	CLIP-seq
MIRT1471490	hsa-miR-3152-3p	CLIP-seq
MIRT2141899	hsa-miR-320e	CLIP-seq
MIRT1471491	hsa-miR-3614-5p	CLIP-seq
MIRT1471493	hsa-miR-4465	CLIP-seq
MIRT2141900	hsa-miR-4743	CLIP-seq
MIRT2141901	hsa-miR-513c	CLIP-seq
MIRT2141902	hsa-miR-514b-5p	CLIP-seq
MIRT2141903	hsa-miR-549	CLIP-seq
MIRT1471496	hsa-miR-576-3p	CLIP-seq
MIRT1471497	hsa-miR-577	CLIP-seq
MIRT2141904	hsa-miR-671-5p	CLIP-seq
MIRT2362560	hsa-miR-103a	CLIP-seq
MIRT2362561	hsa-miR-107	CLIP-seq
MIRT1471482	hsa-miR-127-5p	CLIP-seq
MIRT1471483	hsa-miR-1297	CLIP-seq
MIRT2362562	hsa-miR-1471	CLIP-seq
MIRT2362563	hsa-miR-155	CLIP-seq
MIRT1471488	hsa-miR-26a	CLIP-seq
MIRT1471489	hsa-miR-26b	CLIP-seq
MIRT2141899	hsa-miR-320e	CLIP-seq
MIRT2362564	hsa-miR-324-5p	CLIP-seq
MIRT1471493	hsa-miR-4465	CLIP-seq
MIRT2141900	hsa-miR-4743	CLIP-seq
MIRT2141901	hsa-miR-513c	CLIP-seq
MIRT2141902	hsa-miR-514b-5p	CLIP-seq
MIRT2141903	hsa-miR-549	CLIP-seq
MIRT1471496	hsa-miR-576-3p	CLIP-seq
MIRT1471497	hsa-miR-577	CLIP-seq
MIRT2362565	hsa-miR-658	CLIP-seq
MIRT2141904	hsa-miR-671-5p	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16061792, 22810586, 23932781, 32814053
GO:0005516	Function	Calmodulin binding	IEA
GO:0005654	Component	Nucleoplasm	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	23932781
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0016032	Process	Viral process	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	23932781
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
609890	30313	ENSG00000127481

Protein

UniProt ID

Q5T4S7

Protein name

E3 ubiquitin-protein ligase UBR4 (EC 2.3.2.27) (600 kDa retinoblastoma protein-associated factor) (p600) (N-recognin-4) (Retinoblastoma-associated factor of 600 kDa) (RBAF600)

Protein function

E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm (PubMed:25582440, PubMed:29033132, PubMed:34893540, PubMed:37891180, PubMed:38030679, PubMed:38182926, PubMed:38297121). Component of the N-end r

PDB

8B5W , 8BTL , 8J9Q , 8J9R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02207	zf-UBR	1661 → 1726	Putative zinc finger in N-recognin (UBR box)	Family
PF13764	E3_UbLigase_R4	4367 → 5163	E3 ubiquitin-protein ligase UBR4	Family

Sequence

MATSGGEEAAAAAPAPGTPATGADTTPGWEVAVRPLLSASYSAFEMKELPQLVASVIESE
SEILHHEKQYEPFYSSFVALSTHYITTVCSLIPRNQLQSVAAACKVLIEFSLLRLENPDE
ACAVSQKHLILLIKGLCTGCSRLDRTEIITFTAMMKSAKLPQTVKTLSDVEDQKELASPV
SPELRQKEVQMNFLNQLTSVFNPRTVASQPISTQTLVEGENDEQSSTDQASAIKTKNVFI
AQNVASLQELGGSEKLLRVCLNLPYFLRYINRFQDAVLANSFFIMPATVADATAVRNGFH
SLVIDVTMALDTLSLPVLEPLNPSRLQDVTVLSLSCLYAGVSVATCMAILHVGSAQQVRT
GSTSSKEDDYESDAATIVQKCLEIYDMIGQAISSSRRAGGEHYQNFQLLGAWCLLNSLFL
ILNLSPTALADKGKEKDPLAALRVRDILSRTKEGVGSPKLGPGKGHQGFGVLSVILANHA
IKLLTSLFQDLQVEALHKGWETDGPPAALSIMAQSTSIQRIQRLIDSVPLMNLLLTLLST
SYRKACVLQRQRKGSMSSDASASTDSNTYYEDDFSSTEEDSSQDDDSEPILGQWFEETIS
PSKEKAAPPPPPPPPPLESSPRVKSPSKQAPGEKGNILASRKDPELFLGLASNILNFITS
SMLNSRNNFIRNYLSVSLSEHHMATLASIIKEVDKDGLKGSSDEEFAAALYHFNHSLVTS
DLQSPNLQNTLLQQLGVAPFSEGPWPLYIHPQSLSVLSRLLLIWQHKASAQGDPDVPECL
KVWDRFLSTMKQNALQGVVPSETEDLNVEHLQMLLLIFHNFTETGRRAILSLFVQIIQEL
SVNMDAQMRFVPLILARLLLIFDYLLHQYSKAPVYLFEQVQHNLLSPPFGWASGSQDSNS
RRATTPLYHGFKEVEENWSKHFSSDAVPHPRFYCVLSPEASEDDLNRLDSVACDVLFSKL
VKYDELYAALTALLAAGSQLDTVRRKENKNVTALEACALQYYFLILWRILGILPPSKTYI
NQLSMNSPEMSECDILHTLRWSSRLRISSYVNWIKDHLIKQGMKAEHASSLLELASTTKC
SSVKYDVEIVEEYFARQISSFCSIDCTTILQLHEIPSLQSIYTLDAAISKVQVSLDEHFS
KMAAETDPHKSSEITKNLLPATLQLIDTYASFTRAYLLQNFNEEGTTEKPSKEKLQGFAA
VLAIGSSRCKANTLGPTLVQNLPSSVQTVCESWNNINTNEFPNIGSWRNAFANDTIPSES
YISAVQAAHLGTLCSQSLPLAASLKHTLLSLVRLTGDLIVWSDEMNPPQVIRTLLPLLLE
SSTESVAEISSNSLERILGPAESDEFLARVYEKLITGCYNILANHADPNSGLDESILEEC
LQYLEKQLESSQARKAMEEFFSDSGELVQIMMATANENLSAKFCNRVLKFFTKLFQLTEK
SPNPSLLHLCGSLAQLACVEPVRLQAWLTRMTTSPPKDSDQLDVIQENRQLLQLLTTYIV
RENSQVGEGVCAVLLGTLTPMATEMLANGDGTGFPELMVVMATLASAGQGAGHLQLHNAA
VDWLSRCKKYLSQKNVVEKLNANVMHGKHVMILECTCHIMSYLADVTNALSQSNGQGPSH
LSVDGEERAIEVDSDWVEELAVEEEDSQAEDSDEDSLCNKLCTFTITQKEFMNQHWYHCH
TCKMVDGVGVCTVCAKVCHKDHEISYAKYGSFFCDCGAKEDGSCLALVKRTPSSGMSSTM
KESAFQSEPRISESLVRHASTSSPADKAKVTISDGKVADEEKPKKSSLCRTVEGCREELQ
NQANFSFAPLVLDMLNFLMDAIQTNFQQASAVGSSSRAQQALSELHTVEKAVEMTDQLMV
PTLGSQEGAFENVRMNYSGDQGQTIRQLISAHVLRRVAMCVLSSPHGRRQHLAVSHEKGK
ITVLQLSALLKQADSSKRKLTLTRLASAPVPFTVLSLTGNPCKEDYLAVCGLKDCHVLTF
SSSGSVSDHLVLHPQLATGNFIIKAVWLPGSQTELAIVTADFVKIYDLCVDALSPTFYFL
LPSSKIRDVTFLFNEEGKNIIVIMSSAGYIYTQLMEEASSAQQGPFYVTNVLEINHEDLK
DSNSQVAGGGVSVYYSHVLQMLFFSYCQGKSFAATISRTTLEVLQLFPINIKSSNGGSKT
SPALCQWSEVMNHPGLVCCVQQTTGVPLVVMVKPDTFLIQEIKTLPAKAKIQDMVAIRHT
ACNEQQRTTMILLCEDGSLRIYMANVENTSYWLQPSLQPSSVISIMKPVRKRKTATITTR
TSSQVTFPIDFFEHNQQLTDVEFGGNDLLQVYNAQQIKHRLNSTGMYVANTKPGGFTIEI
SNNNSTMVMTGMRIQIGTQAIERAPSYIEIFGRTMQLNLSRSRWFDFPFTREEALQADKK
LNLFIGASVDPAGVTMIDAVKIYGKTKEQFGWPDEPPEEFPSASVSNICPSNLNQSNGTG
DSDSAAPTTTSGTVLERLVVSSLEALESCFAVGPIIEKERNKNAAQELATLLLSLPAPAS
VQQQSKSLLASLHTSRSAYHSHKDQALLSKAVQCLNTSSKEGKDLDPEVFQRLVITARSI
AIMRPNNLVHFTESKLPQMETEGMDEGKEPQKQLEGDCCSFITQLVNHFWKLHASKPKNA
FLAPACLPGLTHIEATVNALVDIIHGYCTCELDCINTASKIYMQMLLCPDPAVSFSCKQA
LIRVLRPRNKRRHVTLPSSPRSNTPMGDKDDDDDDDADEKMQSSGIPNGGHIRQESQEQS
EVDHGDFEMVSESMVLETAENVNNGNPSPLEALLAGAEGFPPMLDIPPDADDETMVELAI
ALSLQQDQQGSSSSALGLQSLGLSGQAPSSSSLDAGTLSDTTASAPASDDEGSTAATDGS
TLRTSPADHGGSVGSESGGSAVDSVAGEHSVSGRSSAYGDATAEGHPAGPGSVSSSTGAI
STTTGHQEGDGSEGEGEGETEGDVHTSNRLHMVRLMLLERLLQTLPQLRNVGGVRAIPYM
QVILMLTTDLDGEDEKDKGALDNLLSQLIAELGMDKKDVSKKNERSALNEVHLVVMRLLS
VFMSRTKSGSKSSICESSSLISSATAAALLSSGAVDYCLHVLKSLLEYWKSQQNDEEPVA
TSQLLKPHTTSSPPDMSPFFLRQYVKGHAADVFEAYTQLLTEMVLRLPYQIKKITDTNSR
IPPPVFDHSWFYFLSEYLMIQQTPFVRRQVRKLLLFICGSKEKYRQLRDLHTLDSHVRGI
KKLLEEQGIFLRASVVTASSGSALQYDTLISLMEHLKACAEIAAQRTINWQKFCIKDDSV
LYFLLQVSFLVDEGVSPVLLQLLSCALCGSKVLAALAASSGSSSASSSSAPVAASSGQAT
TQSKSSTKKSKKEEKEKEKDGETSGSQEDQLCTALVNQLNKFADKETLIQFLRCFLLESN
SSSVRWQAHCLTLHIYRNSSKSQQELLLDLMWSIWPELPAYGRKAAQFVDLLGYFSLKTP
QTEKKLKEYSQKAVEILRTQNHILTNHPNSNIYNTLSGLVEFDGYYLESDPCLVCNNPEV
PFCYIKLSSIKVDTRYTTTQQVVKLIGSHTISKVTVKIGDLKRTKMVRTINLYYNNRTVQ
AIVELKNKPARWHKAKKVQLTPGQTEVKIDLPLPIVASNLMIEFADFYENYQASTETLQC
PRCSASVPANPGVCGNCGENVYQCHKCRSINYDEKDPFLCNACGFCKYARFDFMLYAKPC
CAVDPIENEEDRKKAVSNINTLLDKADRVYHQLMGHRPQLENLLCKVNEAAPEKPQDDSG
TAGGISSTSASVNRYILQLAQEYCGDCKNSFDELSKIIQKVFASRKELLEYDLQQREAAT
KSSRTSVQPTFTASQYRALSVLGCGHTSSTKCYGCASAVTEHCITLLRALATNPALRHIL
VSQGLIRELFDYNLRRGAAAMREEVRQLMCLLTRDNPEATQQMNDLIIGKVSTALKGHWA
NPDLASSLQYEMLLLTDSISKEDSCWELRLRCALSLFLMAVNIKTPVVVENITLMCLRIL
QKLIKPPAPTSKKNKDVPVEALTTVKPYCNEIHAQAQLWLKRDPKASYDAWKKCLPIRGI
DGNGKAPSKSELRHLYLTEKYVWRWKQFLSRRGKRTSPLDLKLGHNNWLRQVLFTPATQA
ARQAACTIVEALATIPSRKQQVLDLLTSYLDELSIAGECAAEYLALYQKLITSAHWKVYL
AARGVLPYVGNLITKEIARLLALEEATLSTDLQQGYALKSLTGLLSSFVEVESIKRHFKS
RLVGTVLNGYLCLRKLVVQRTKLIDETQDMLLEMLEDMTTGTESETKAFMAVCIETAKRY
NLDDYRTPVFIFERLCSIIYPEENEVTEFFVTLEKDPQQEDFLQGRMPGNPYSSNEPGIG
PLMRDIKNKICQDCDLVALLEDDSGMELLVNNKIISLDLPVAEVYKKVWCTTNEGEPMRI
VYRMRGLLGDATEEFIESLDSTTDEEEDEEEVYKMAGVMAQCGGLECMLNRLAGIRDFKQ
GRHLLTVLLKLFSYCVKVKVNRQQLVKLEMNTLNVMLGTLNLALVAEQESKDSGGAAVAE
QVLSIMEIILDESNAEPLSEDKGNLLLTGDKDQLVMLLDQINSTFVRSNPSVLQGLLRII
PYLSFGEVEKMQILVERFKPYCNFDKYDEDHSGDDKVFLDCFCKIAAGIKNNSNGHQLKD
LILQKGITQNALDYMKKHIPSAKNLDADIWKKFLSRPALPFILRLLRGLAIQHPGTQVLI
GTDSIPNLHKLEQVSSDEGIGTLAENLLEALREHPDVNKKIDAARRETRAEKKRMAMAMR
QKALGTLGMTTNEKGQVVTKTALLKQMEELIEEPGLTCCICREGYKFQPTKVLGIYTFTK
RVALEEMENKPRKQQGYSTVSHFNIVHYDCHLAAVRLARGREEWESAALQNANTKCNGLL
PVWGPHVPESAFATCLARHNTYLQECTGQREPTYQLNIHDIKLLFLRFAMEQSFSADTGG
GGRESNIHLIPYIIHTVLYVLNTTRATSREEKNLQGFLEQPKEKWVESAFEVDGPYYFTV
LALHILPPEQWRATRVEILRRLLVTSQARAVAPGGATRLTDKAVKDYSAYRSSLLFWALV
DLIYNMFKKVPTSNTEGGWSCSLAEYIRHNDMPIYEAADKALKTFQEEFMPVETFSEFLD
VAGLLSEITDPESFLKDLLNSVP

Sequence length

5183

Interactions

View interactions

	KEGG		Reactome
	Human papillomavirus infection Viral carcinogenesis		Neutrophil degranulation Antigen processing: Ubiquitination & Proteasome degradation

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Episodic ataxia	Episodic Ataxia	rs121908212, rs587776692, rs587776693, rs121908216, rs121908215, rs121908233, rs121908226, rs587776694, rs587776695, rs121908225, rs121909323, rs121909324, rs121908227, rs121909326, rs121908236 View all (58 more)	23982692
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340 View all (64 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Inflammatory Bowel Disease	Inflammatory Bowel Disease	GWAS
Ulcerative colitis	Ulcerative colitis	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
Aneuploidy	Associate	36576405
Carcinoma	Associate	36576405
Colonic Diseases	Associate	31830949
Dementia	Associate	28600779
Episodic Ataxia	Associate	23982692, 29062094
Growth Disorders	Associate	30809043
Hirschsprung Disease	Associate	31830949
Intellectual Disability	Associate	25582440, 28600779
Melanoma	Associate	16247014
Neoplasm Invasiveness	Associate	24887297
Uterine Cervical Neoplasms	Associate	28100625

UBR4 (ubiquitin protein ligase E3 component n-recognin 4)