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(52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0005515	Function	Protein binding	IPI	16061792, 22810586, 23932781, 32814053
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	29033132, 38297121
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005829	Component	Cytosol	IDA	29033132
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	23932781, 34893540
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IDA	23555265
GO:0006633	Process	Fatty acid biosynthetic process	IDA	10653665, 19286649
GO:0006979	Process	Response to oxidative stress	IDA	34893540
GO:0007032	Process	Endosome organization	IEA
GO:0007032	Process	Endosome organization	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IDA	34711951
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0033554	Process	Cellular response to stress	IDA	32132706, 32132707
GO:0035579	Component	Specific granule membrane	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	23555265, 37891180, 38297121
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0044314	Process	Protein K27-linked ubiquitination	IDA	34893540
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IDA	23932781
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0060337	Process	Type I interferon-mediated signaling pathway	IMP	23391734
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	23932781, 29033132, 34893540, 37891180, 38030679, 38182926, 38297121
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	29033132, 38297121
GO:0070979	Process	Protein K11-linked ubiquitination	IDA	29033132
GO:0071211	Process	Protein targeting to vacuole involved in autophagy	IDA	34893540
GO:0071596	Process	Ubiquitin-dependent protein catabolic process via the N-end rule pathway	IDA	38030679
GO:0071596	Process	Ubiquitin-dependent protein catabolic process via the N-end rule pathway	IEA
GO:0071629	Process	Cytoplasm protein quality control by the ubiquitin-proteasome system	IDA	29033132
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:0140455	Process	Cytoplasm protein quality control	IDA	29033132
GO:0140468	Process	HRI-mediated signaling	IDA	32132706, 32132707
GO:0141191	Process	Negative regulation of HRI-mediated signaling	IDA	38297121
GO:0141198	Process	Protein branched polyubiquitination	IDA	29033132
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	23555265

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 Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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)