UBE4B (ubiquitination factor E4B)

Gene

• Entrez ID: 10277
• Gene name: Ubiquitination factor E4B
• Gene symbol: UBE4B
• Synonyms (NCBI Gene): E4, HDNB1, UBOX3, UFD2, UFD2A
• Chromosome: 1
• Chromosome location: 1p36.22
• Summary: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conju

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016837	hsa-miR-335-5p	Microarray	18185580
MIRT049579	hsa-miR-92a-3p	CLASH	23622248
MIRT042528	hsa-miR-423-3p	CLASH	23622248
MIRT621670	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT621669	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT621668	hsa-miR-218-2-3p	HITS-CLIP	23824327
MIRT621667	hsa-miR-758-5p	HITS-CLIP	23824327
MIRT621666	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT621663	hsa-miR-584-5p	HITS-CLIP	23824327
MIRT621662	hsa-miR-3671	HITS-CLIP	23824327
MIRT621660	hsa-miR-29b-2-5p	HITS-CLIP	23824327
MIRT621659	hsa-miR-607	HITS-CLIP	23824327
MIRT621658	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT621670	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT621669	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT621668	hsa-miR-218-2-3p	HITS-CLIP	23824327
MIRT621667	hsa-miR-758-5p	HITS-CLIP	23824327
MIRT621663	hsa-miR-584-5p	HITS-CLIP	23824327
MIRT621662	hsa-miR-3671	HITS-CLIP	23824327
MIRT621660	hsa-miR-29b-2-5p	HITS-CLIP	23824327
MIRT621659	hsa-miR-607	HITS-CLIP	23824327
MIRT621671	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT621670	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT621669	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT621668	hsa-miR-218-2-3p	HITS-CLIP	23824327
MIRT621667	hsa-miR-758-5p	HITS-CLIP	23824327
MIRT621666	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT621665	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT621664	hsa-miR-6798-3p	HITS-CLIP	23824327
MIRT621663	hsa-miR-584-5p	HITS-CLIP	23824327
MIRT621662	hsa-miR-3671	HITS-CLIP	23824327
MIRT621661	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT621660	hsa-miR-29b-2-5p	HITS-CLIP	23824327
MIRT621659	hsa-miR-607	HITS-CLIP	23824327
MIRT621658	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT464623	hsa-miR-4476	PAR-CLIP	23592263
MIRT464621	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT464620	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT464619	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT464618	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT464617	hsa-miR-1178-5p	PAR-CLIP	23592263
MIRT464616	hsa-miR-1182	PAR-CLIP	23592263
MIRT464615	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT464614	hsa-miR-3179	PAR-CLIP	23592263
MIRT464613	hsa-miR-3148	PAR-CLIP	23592263
MIRT464612	hsa-miR-3202	PAR-CLIP	23592263
MIRT464611	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT464610	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT464609	hsa-miR-8085	PAR-CLIP	23592263
MIRT464608	hsa-miR-3175	PAR-CLIP	23592263
MIRT464607	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT464605	hsa-miR-5698	PAR-CLIP	23592263
MIRT464606	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT464604	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT442709	hsa-miR-9-5p	PAR-CLIP	22100165
MIRT442708	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT442707	hsa-miR-1251-3p	PAR-CLIP	22100165
MIRT442706	hsa-miR-3926	PAR-CLIP	22100165
MIRT442705	hsa-miR-6885-3p	PAR-CLIP	22100165
MIRT621670	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT621669	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT621668	hsa-miR-218-2-3p	HITS-CLIP	23824327
MIRT621667	hsa-miR-758-5p	HITS-CLIP	23824327
MIRT621666	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT621663	hsa-miR-584-5p	HITS-CLIP	23824327
MIRT621662	hsa-miR-3671	HITS-CLIP	23824327
MIRT621660	hsa-miR-29b-2-5p	HITS-CLIP	23824327
MIRT621659	hsa-miR-607	HITS-CLIP	23824327
MIRT621658	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT621670	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT621669	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT621668	hsa-miR-218-2-3p	HITS-CLIP	23824327
MIRT621667	hsa-miR-758-5p	HITS-CLIP	23824327
MIRT621663	hsa-miR-584-5p	HITS-CLIP	23824327
MIRT621662	hsa-miR-3671	HITS-CLIP	23824327
MIRT621660	hsa-miR-29b-2-5p	HITS-CLIP	23824327
MIRT621659	hsa-miR-607	HITS-CLIP	23824327
MIRT621671	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT621670	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT621669	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT621668	hsa-miR-218-2-3p	HITS-CLIP	23824327
MIRT621667	hsa-miR-758-5p	HITS-CLIP	23824327
MIRT621666	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT621665	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT621664	hsa-miR-6798-3p	HITS-CLIP	23824327
MIRT621663	hsa-miR-584-5p	HITS-CLIP	23824327
MIRT621662	hsa-miR-3671	HITS-CLIP	23824327
MIRT621661	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT621660	hsa-miR-29b-2-5p	HITS-CLIP	23824327
MIRT621659	hsa-miR-607	HITS-CLIP	23824327
MIRT621658	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT464623	hsa-miR-4476	PAR-CLIP	23592263
MIRT464621	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT464620	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT464619	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT464618	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT464617	hsa-miR-1178-5p	PAR-CLIP	23592263
MIRT464616	hsa-miR-1182	PAR-CLIP	23592263
MIRT464615	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT464614	hsa-miR-3179	PAR-CLIP	23592263
MIRT464613	hsa-miR-3148	PAR-CLIP	23592263
MIRT464612	hsa-miR-3202	PAR-CLIP	23592263
MIRT464611	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT464610	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT464609	hsa-miR-8085	PAR-CLIP	23592263
MIRT464608	hsa-miR-3175	PAR-CLIP	23592263
MIRT464607	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT464605	hsa-miR-5698	PAR-CLIP	23592263
MIRT464606	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT464604	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT442709	hsa-miR-9-5p	PAR-CLIP	22100165
MIRT442708	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT442707	hsa-miR-1251-3p	PAR-CLIP	22100165
MIRT442706	hsa-miR-3926	PAR-CLIP	22100165
MIRT442705	hsa-miR-6885-3p	PAR-CLIP	22100165
MIRT1469607	hsa-miR-1184	CLIP-seq
MIRT1469608	hsa-miR-1245b-3p	CLIP-seq
MIRT1469609	hsa-miR-129-5p	CLIP-seq
MIRT1469610	hsa-miR-1301	CLIP-seq
MIRT1469611	hsa-miR-130a	CLIP-seq
MIRT1469612	hsa-miR-130b	CLIP-seq
MIRT1469613	hsa-miR-141	CLIP-seq
MIRT1469614	hsa-miR-148a	CLIP-seq
MIRT1469615	hsa-miR-148b	CLIP-seq
MIRT1469616	hsa-miR-152	CLIP-seq
MIRT1469617	hsa-miR-15a	CLIP-seq
MIRT1469618	hsa-miR-15b	CLIP-seq
MIRT1469619	hsa-miR-16	CLIP-seq
MIRT1469620	hsa-miR-1915	CLIP-seq
MIRT1469621	hsa-miR-195	CLIP-seq
MIRT1469622	hsa-miR-200a	CLIP-seq
MIRT1469623	hsa-miR-2117	CLIP-seq
MIRT1469624	hsa-miR-301a	CLIP-seq
MIRT1469625	hsa-miR-301b	CLIP-seq
MIRT1469626	hsa-miR-3153	CLIP-seq
MIRT1469627	hsa-miR-3159	CLIP-seq
MIRT1469628	hsa-miR-3163	CLIP-seq
MIRT1469629	hsa-miR-342-3p	CLIP-seq
MIRT1469630	hsa-miR-34b	CLIP-seq
MIRT1469631	hsa-miR-3614-5p	CLIP-seq
MIRT1469632	hsa-miR-3666	CLIP-seq
MIRT1469633	hsa-miR-3977	CLIP-seq
MIRT1469634	hsa-miR-424	CLIP-seq
MIRT1469635	hsa-miR-4268	CLIP-seq
MIRT1469636	hsa-miR-4269	CLIP-seq
MIRT1469637	hsa-miR-4295	CLIP-seq
MIRT1469638	hsa-miR-4307	CLIP-seq
MIRT1469639	hsa-miR-4330	CLIP-seq
MIRT1469640	hsa-miR-4443	CLIP-seq
MIRT1469641	hsa-miR-4448	CLIP-seq
MIRT1469642	hsa-miR-4519	CLIP-seq
MIRT1469643	hsa-miR-4524	CLIP-seq
MIRT1469644	hsa-miR-454	CLIP-seq
MIRT1469645	hsa-miR-4640-5p	CLIP-seq
MIRT1469646	hsa-miR-4660	CLIP-seq
MIRT1469647	hsa-miR-4668-3p	CLIP-seq
MIRT1469648	hsa-miR-4684-5p	CLIP-seq
MIRT1469649	hsa-miR-4690-5p	CLIP-seq
MIRT1469650	hsa-miR-4698	CLIP-seq
MIRT1469651	hsa-miR-4726-3p	CLIP-seq
MIRT1469652	hsa-miR-4726-5p	CLIP-seq
MIRT1469653	hsa-miR-4753-3p	CLIP-seq
MIRT1469654	hsa-miR-497	CLIP-seq
MIRT1469655	hsa-miR-500a	CLIP-seq
MIRT1469656	hsa-miR-503	CLIP-seq
MIRT1469657	hsa-miR-5047	CLIP-seq
MIRT1469658	hsa-miR-545	CLIP-seq
MIRT1469659	hsa-miR-548c-3p	CLIP-seq
MIRT1469660	hsa-miR-548p	CLIP-seq
MIRT1469661	hsa-miR-646	CLIP-seq
MIRT1469662	hsa-miR-873	CLIP-seq
MIRT1469663	hsa-miR-942	CLIP-seq
MIRT2141237	hsa-miR-1185	CLIP-seq
MIRT1469617	hsa-miR-15a	CLIP-seq
MIRT1469618	hsa-miR-15b	CLIP-seq
MIRT1469619	hsa-miR-16	CLIP-seq
MIRT1469621	hsa-miR-195	CLIP-seq
MIRT1469626	hsa-miR-3153	CLIP-seq
MIRT1469629	hsa-miR-342-3p	CLIP-seq
MIRT2141238	hsa-miR-3611	CLIP-seq
MIRT2141239	hsa-miR-361-3p	CLIP-seq
MIRT2141240	hsa-miR-3679-5p	CLIP-seq
MIRT1469634	hsa-miR-424	CLIP-seq
MIRT1469635	hsa-miR-4268	CLIP-seq
MIRT1469638	hsa-miR-4307	CLIP-seq
MIRT1469640	hsa-miR-4443	CLIP-seq
MIRT1469643	hsa-miR-4524	CLIP-seq
MIRT2141241	hsa-miR-4640-3p	CLIP-seq
MIRT1469645	hsa-miR-4640-5p	CLIP-seq
MIRT1469650	hsa-miR-4698	CLIP-seq
MIRT2141242	hsa-miR-4700-3p	CLIP-seq
MIRT1469652	hsa-miR-4726-5p	CLIP-seq
MIRT2141243	hsa-miR-493	CLIP-seq
MIRT1469654	hsa-miR-497	CLIP-seq
MIRT1469656	hsa-miR-503	CLIP-seq
MIRT1469658	hsa-miR-545	CLIP-seq
MIRT2141244	hsa-miR-548g	CLIP-seq
MIRT1469660	hsa-miR-548p	CLIP-seq
MIRT1469661	hsa-miR-646	CLIP-seq
MIRT2141245	hsa-miR-668	CLIP-seq
MIRT1469663	hsa-miR-942	CLIP-seq
MIRT2362172	hsa-miR-1231	CLIP-seq
MIRT2362173	hsa-miR-4288	CLIP-seq
MIRT2362174	hsa-miR-632	CLIP-seq
MIRT1469607	hsa-miR-1184	CLIP-seq
MIRT2141237	hsa-miR-1185	CLIP-seq
MIRT1469608	hsa-miR-1245b-3p	CLIP-seq
MIRT2655987	hsa-miR-1290	CLIP-seq
MIRT1469609	hsa-miR-129-5p	CLIP-seq
MIRT1469610	hsa-miR-1301	CLIP-seq
MIRT1469613	hsa-miR-141	CLIP-seq
MIRT1469617	hsa-miR-15a	CLIP-seq
MIRT1469618	hsa-miR-15b	CLIP-seq
MIRT1469619	hsa-miR-16	CLIP-seq
MIRT1469621	hsa-miR-195	CLIP-seq
MIRT1469622	hsa-miR-200a	CLIP-seq
MIRT2655988	hsa-miR-214	CLIP-seq
MIRT2655989	hsa-miR-2278	CLIP-seq
MIRT1469626	hsa-miR-3153	CLIP-seq
MIRT2655990	hsa-miR-3188	CLIP-seq
MIRT1469629	hsa-miR-342-3p	CLIP-seq
MIRT2141238	hsa-miR-3611	CLIP-seq
MIRT1469631	hsa-miR-3614-5p	CLIP-seq
MIRT2655991	hsa-miR-3619-5p	CLIP-seq
MIRT2141240	hsa-miR-3679-5p	CLIP-seq
MIRT1469634	hsa-miR-424	CLIP-seq
MIRT1469635	hsa-miR-4268	CLIP-seq
MIRT1469636	hsa-miR-4269	CLIP-seq
MIRT1469638	hsa-miR-4307	CLIP-seq
MIRT1469639	hsa-miR-4330	CLIP-seq
MIRT1469640	hsa-miR-4443	CLIP-seq
MIRT1469641	hsa-miR-4448	CLIP-seq
MIRT2655992	hsa-miR-4457	CLIP-seq
MIRT1469645	hsa-miR-4640-5p	CLIP-seq
MIRT1469646	hsa-miR-4660	CLIP-seq
MIRT2655993	hsa-miR-4671-5p	CLIP-seq
MIRT1469649	hsa-miR-4690-5p	CLIP-seq
MIRT1469652	hsa-miR-4726-5p	CLIP-seq
MIRT2141243	hsa-miR-493	CLIP-seq
MIRT1469654	hsa-miR-497	CLIP-seq
MIRT1469657	hsa-miR-5047	CLIP-seq
MIRT2655994	hsa-miR-513b	CLIP-seq
MIRT2655995	hsa-miR-761	CLIP-seq
MIRT1469607	hsa-miR-1184	CLIP-seq
MIRT1469608	hsa-miR-1245b-3p	CLIP-seq
MIRT1469610	hsa-miR-1301	CLIP-seq
MIRT1469613	hsa-miR-141	CLIP-seq
MIRT1469622	hsa-miR-200a	CLIP-seq
MIRT1469626	hsa-miR-3153	CLIP-seq
MIRT1469629	hsa-miR-342-3p	CLIP-seq
MIRT1469631	hsa-miR-3614-5p	CLIP-seq
MIRT1469635	hsa-miR-4268	CLIP-seq
MIRT1469636	hsa-miR-4269	CLIP-seq
MIRT1469638	hsa-miR-4307	CLIP-seq
MIRT1469639	hsa-miR-4330	CLIP-seq
MIRT1469640	hsa-miR-4443	CLIP-seq
MIRT1469641	hsa-miR-4448	CLIP-seq
MIRT1469645	hsa-miR-4640-5p	CLIP-seq
MIRT1469646	hsa-miR-4660	CLIP-seq
MIRT1469649	hsa-miR-4690-5p	CLIP-seq
MIRT1469652	hsa-miR-4726-5p	CLIP-seq
MIRT1469657	hsa-miR-5047	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IEA
GO:0000151	Component	Ubiquitin ligase complex	TAS	11802788
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	20696396, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	11802788
GO:0006513	Process	Protein monoubiquitination	IEA
GO:0008626	Process	Granzyme-mediated apoptotic signaling pathway	IDA	11802788
GO:0009411	Process	Response to UV	IDA	11802788
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	ISS
GO:0030163	Process	Protein catabolic process	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0034450	Function	Ubiquitin-ubiquitin ligase activity	IBA
GO:0034450	Function	Ubiquitin-ubiquitin ligase activity	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	23509263
GO:0051865	Process	Protein autoubiquitination	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

Other IDs

• MIM: 613565
• HGNC: 12500
• e!Ensembl: ENSG00000130939

Protein

• UniProt ID: O95155
• Protein name: Ubiquitin conjugation factor E4 B (EC 2.3.2.27) (Homozygously deleted in neuroblastoma 1) (RING-type E3 ubiquitin transferase E4 B) (Ubiquitin fusion degradation protein 2)
• Protein function: Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases (By similarity). May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by anot
• PDB: 2KRE, 3L1X, 3L1Z, 5O75
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10408	Ufd2P_core	591 → 1212	Ubiquitin elongating factor core	Family
  PF04564	U-box	1228 → 1299	U-box domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in differentiated myotubes (at protein level) (PubMed:17369820). Highest expression in ovary, testis, heart and skeletal muscle (PubMed:11802788). Expression is low in colon, thymus and peripheral blood leukocytes (PubMed:118
• Sequence:

  MEELSADEIRRRRLARLAGGQTSQPTTPLTSPQRENPPGPPIAASAPGPSQSLGLNVHNM
  TPATSPIGASGVAHRSQSSEGVSSLSSSPSNSLETQSQSLSRSQSMDIDGVSCEKSMSQV
  DVDSGIENMEVDENDRREKRSLSDKEPSSGPEVSEEQALQLVCKIFRVSWKDRDRDVIFL
  SSLSAQFKQNPKEVFSDFKDLIGQILMEVLMMSTQTRDENPFASLTATSQPIAAAARSPD
  RNLLLNTGSNPGTSPMFCSVASFGASSLSSLYESSPAPTPSFWSSVPVMGPSLASPSRAA
  SQLAVPSTPLSPHSAASGTAAGSQPSSPRYRPYTVTHPWASSGVSILSSSPSPPALASSP
  QAVPASSSRQRPSSTGPPLPPASPSATSRRPSSLRISPSLGASGGASNWDSYSDHFTIET
  CKETDMLNYLIECFDRVGIEEKKAPKMCSQPAVSQLLSNIRSQCISHTALVLQGSLTQPR
  SLQQPSFLVPYMLCRNLPYGFIQELVRTTHQDEEVFKQIFIPILQGLALAAKECSLDSDY
  FKYPLMALGELCETKFGKTHPVCNLVASLRLWLPKSLSPGCGRELQRLSYLGAFFSFSVF
  AEDDVKVVEKYFSGPAITLENTRVVSQSLQHYLELGRQELFKILHSILLNGETREAALSY
  MAAVVNANMKKAQMQTDDRLVSTDGFMLNFLWVLQQLSTKIKLETVDPTYIFHPRCRITL
  PNDETRVNATMEDVNDWLTELYGDQPPFSEPKFPTECFFLTLHAHHLSILPSCRRYIRRL
  RAIRELNRTVEDLKNNESQWKDSPLATRHREMLKRCKTQLKKLVRCKACADAGLLDESFL
  RRCLNFYGLLIQLLLRILDPAYPDITLPLNSDVPKVFAALPEFYVEDVAEFLFFIVQYSP
  QALYEPCTQDIVMFLVVMLCNQNYIRNPYLVAKLVEVMFMTNPAVQPRTQKFFEMIENHP
  LSTKLLVPSLMKFYTDVEHTGATSEFYDKFTIRYHISTIFKSLWQNIAHHGTFMEEFNSG
  KQFVRYINMLINDTTFLLDESLESLKRIHEVQEEMKNKEQWDQLPRDQQQARQSQLAQDE
  RVSRSYLALATETVDMFHILTKQVQKPFLRPELGPRLAAMLNFNLQQLCGPKCRDLKVEN
  PEKYGFEPKKLLDQLTDIYLQLDCARFAKAIADDQRSYSKELFEEVISKMRKAGIKSTIA
  IEKFKLLAEKVEEIVAKNARAEIDYSDAPDEFRDPLMDTLMTDPVRLPSGTIMDRSIILR
  HLLNSPTDPFNRQTLTESMLEPVPELKEQIQAWMREKQNSDH

• Sequence length: 1302

Pathways

KEGG:

Ubiquitin mediated proteolysis
Protein processing in endoplasmic reticulum

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
1P36 DELETION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES, TRAUMATIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 1P36 DELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALLERIAN DEGENERATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36470669	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24454898		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24454898	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25557723		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28483517		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16386891, 20676096		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	35996826	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31040698		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12700669, 22990745, 25557723, 28483517, 31040698, 31475882		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12700669, 16386891, 22990745, 31475882		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22990745, 31475882, 37957138	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	37595558	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28483517		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	15611659		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	37595558	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	15611659		★☆☆☆☆ Found in Text Mining only