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.	8925
Gene name Gene Name - the full gene name approved by the HGNC.	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HERC1
Synonyms (NCBI Gene) Gene synonyms aliases	MDFPMR, p532, p619
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q22.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80203202	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs753780877	G>A,C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs757749585	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs769677823	C>G,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs797045141	T>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs879253786	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064794786	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1064796508	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307759	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1131691853	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555404908	GG>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555417272	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595819527	T>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant

Show/Hide all(59)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050724	hsa-miR-18a-5p	CLASH	23622248
MIRT048986	hsa-miR-92a-3p	CLASH	23622248
MIRT048986	hsa-miR-92a-3p	CLASH	23622248
MIRT042828	hsa-miR-324-3p	CLASH	23622248
MIRT041520	hsa-miR-193b-3p	CLASH	23622248
MIRT037896	hsa-miR-455-3p	CLASH	23622248
MIRT1044285	hsa-miR-1303	CLIP-seq
MIRT1044286	hsa-miR-4420	CLIP-seq
MIRT1044287	hsa-miR-4698	CLIP-seq
MIRT1044288	hsa-miR-4705	CLIP-seq
MIRT1044289	hsa-miR-4735-5p	CLIP-seq
MIRT1044290	hsa-miR-501-3p	CLIP-seq
MIRT1044291	hsa-miR-502-3p	CLIP-seq
MIRT1044292	hsa-miR-522	CLIP-seq
MIRT1044293	hsa-miR-548ac	CLIP-seq
MIRT1044294	hsa-miR-548ae	CLIP-seq
MIRT1044295	hsa-miR-548aj	CLIP-seq
MIRT1044296	hsa-miR-548am	CLIP-seq
MIRT1044297	hsa-miR-548d-3p	CLIP-seq
MIRT1044298	hsa-miR-548x	CLIP-seq
MIRT1044299	hsa-miR-548z	CLIP-seq
MIRT1044300	hsa-miR-767-5p	CLIP-seq
MIRT1044285	hsa-miR-1303	CLIP-seq
MIRT2545635	hsa-miR-2116	CLIP-seq
MIRT2545636	hsa-miR-299-5p	CLIP-seq
MIRT2545637	hsa-miR-3129-3p	CLIP-seq
MIRT2545638	hsa-miR-3187-3p	CLIP-seq
MIRT2545639	hsa-miR-374a	CLIP-seq
MIRT2545640	hsa-miR-374b	CLIP-seq
MIRT2545641	hsa-miR-409-3p	CLIP-seq
MIRT2545642	hsa-miR-4529-5p	CLIP-seq
MIRT2545643	hsa-miR-4677-5p	CLIP-seq
MIRT1044288	hsa-miR-4705	CLIP-seq
MIRT1044289	hsa-miR-4735-5p	CLIP-seq
MIRT2545644	hsa-miR-4781-3p	CLIP-seq
MIRT1044293	hsa-miR-548ac	CLIP-seq
MIRT1044294	hsa-miR-548ae	CLIP-seq
MIRT1044295	hsa-miR-548aj	CLIP-seq
MIRT1044296	hsa-miR-548am	CLIP-seq
MIRT1044297	hsa-miR-548d-3p	CLIP-seq
MIRT1044298	hsa-miR-548x	CLIP-seq
MIRT1044299	hsa-miR-548z	CLIP-seq
MIRT2545645	hsa-miR-663b	CLIP-seq
MIRT1044285	hsa-miR-1303	CLIP-seq
MIRT2545637	hsa-miR-3129-3p	CLIP-seq
MIRT2545638	hsa-miR-3187-3p	CLIP-seq
MIRT2545639	hsa-miR-374a	CLIP-seq
MIRT2545640	hsa-miR-374b	CLIP-seq
MIRT2545642	hsa-miR-4529-5p	CLIP-seq
MIRT1044288	hsa-miR-4705	CLIP-seq
MIRT1044289	hsa-miR-4735-5p	CLIP-seq
MIRT1044293	hsa-miR-548ac	CLIP-seq
MIRT1044294	hsa-miR-548ae	CLIP-seq
MIRT1044295	hsa-miR-548aj	CLIP-seq
MIRT1044296	hsa-miR-548am	CLIP-seq
MIRT1044297	hsa-miR-548d-3p	CLIP-seq
MIRT1044298	hsa-miR-548x	CLIP-seq
MIRT1044299	hsa-miR-548z	CLIP-seq
MIRT2545645	hsa-miR-663b	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS	8861955
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	8861955
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	TAS	8861955
GO:0005829	Component	Cytosol	IEA
GO:0006914	Process	Autophagy	IEA
GO:0007420	Process	Brain development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010507	Process	Negative regulation of autophagy	IEA
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0046849	Process	Bone remodeling	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

MIM	HGNC	e!Ensembl
605109	4867	ENSG00000103657

Protein

UniProt ID

Q15751

Protein name

Probable E3 ubiquitin-protein ligase HERC1 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 1) (HECT-type E3 ubiquitin transferase HERC1) (p532) (p619)

Protein function

Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which

PDB

4O2W , 4QT6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00415	RCC1	476 → 526	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	529 → 576	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	579 → 629	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	683 → 733	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00622	SPRY	2072 → 2190	SPRY domain	Family
PF00400	WD40	3417 → 3456	WD domain, G-beta repeat	Repeat
PF00400	WD40	3737 → 3781	WD domain, G-beta repeat	Repeat
PF00415	RCC1	4100 → 4149	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	4152 → 4201	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	4206 → 4254	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	4309 → 4358	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00632	HECT	4534 → 4843	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:8861955}.

Sequence

MATMIPPVKLKWLEHLNSSWITEDSESIATREGVAVLYSKLVSNKEVVPLPQQVLCLKGP
QLPDFERESLSSDEQDHYLDALLSSQLALAKMVCSDSPFAGALRKRLLVLQRVFYALSNK
YHDKGKVKQQQHSPESSSGSADVHSVSERPRSSTDALIEMGVRTGLSLLFALLRQSWMMP
VSGPGLSLCNDVIHTAIEVVSSLPPLSLANESKIPPMGLDCLSQVTTFLKGVTIPNSGAD
TLGRRLASELLLGLAAQRGSLRYLLEWIEMALGASAVVHTMEKGKLLSSQEGMISFDCFM
TILMQMRRSLGSSADRSQWREPTRTSDGLCSLYEAALCLFEEVCRMASDYSRTCASPDSI
QTGDAPIVSETCEVYVWGSNSSHQLVEGTQEKILQPKLAPSFSDAQTIEAGQYCTFVIST
DGSVRACGKGSYGRLGLGDSNNQSTLKKLTFEPHRSIKKVSSSKGSDGHTLAFTTEGEVF
SWGDGDYGKLGHGNSSTQKYPKLIQGPLQGKVVVCVSAGYRHSAAVTEDGELYTWGEGDF
GRLGHGDSNSRNIPTLVKDISNVGEVSCGSSHTIALSKDGRTVWSFGGGDNGKLGHGDTN
RVYKPKVIEALQGMFIRKVCAGSQSSLALTSTGQVYAWGCGACLGCGSSEATALRPKLIE
ELAATRIVDVSIGDSHCLALSHDNEVYAWGNNSMGQCGQGNSTGPITKPKKVSGLDGIAI
QQISAGTSHSLAWTALPRDRQVVAWHRPYCVDLEESTFSHLRSFLERYCDKINSEIPPLP
FPSSREHHSFLKLCLKLLSNHLALALAGGVATSILGRQAGPLRNLLFRLMDSTVPDEIQE
VVIETLSVGATMLLPPLRERMELLHSLLPQGPDRWESLSKGQRMQLDIILTSLQDHTHVA
SLLGYSSPSDAADLSSVCTGYGNLSDQPYGTQSCHPDTHLAEILMKTLLRNLGFYTDQAF
GELEKNSDKFLLGTSSSENSQPAHLHELLCSLQKQLLAFCHINNISENSSSVALLHKHLQ
LLLPHATDIYSRSANLLKESPWNGSVGEKLRDVIYVSAAGSMLCQIVNSLLLLPVSVARP
LLSYLLDLLPPLDCLNRLLPAADLLEDQELQWPLHGGPELIDPAGLPLPQPAQSWVWLVD
LERTIALLIGRCLGGMLQGSPVSPEEQDTAYWMKTPLFSDGVEMDTPQLDKCMSCLLEVA
LSGNEEQKPFDYKLRPEIAVYVDLALGCSKEPARSLWISMQDYAVSKDWDSATLSNESLL
DTVSRFVLAALLKHTNLLSQACGESRYQPGKHLSEVYRCVYKVRSRLLACKNLELIQTRS
SSRDRWISENQDSADVDPQEHSFTRTIDEEAEMEEQAERDREEGHPEPEDEEEEREHEVM
TAGKIFQCFLSAREVARSRDRDRMNSGAGSGARADDPPPQSQQERRVSTDLPEGQDVYTA
ACNSVIHRCALLILGVSPVIDELQKRREEGQLQQPSTSASEGGGLMTRSESLTAESRLVH
TSPNYRLIKSRSESDLSQPESDEEGYALSGRRNVDLDLAASHRKRGPMHSQLESLSDSWA
RLKHSRDWLCNSSYSFESDFDLTKSLGVHTLIENVVSFVSGDVGNAPGFKEPEESMSTSP
QASIIAMEQQQLRAELRLEALHQILVLLSGMEEKGSISLAGSRLSSGFQSSTLLTSVRLQ
FLAGCFGLGTVGHTGGKGESGRLHHYQDGIRAAKRNIQIEIQVAVHKIYQQLSATLERAL
QANKHHIEAQQRLLLVTVFALSVHYQPVDVSLAISTGLLNVLSQLCGTDTMLGQPLQLLP
KTGVSQLSTALKVASTRLLQILAITTGTYADKLSPKVVQSLLDLLCSQLKNLLSQTGVLH
MASFGEGEQEDGEEEEKKVDSSGETEKKDFRAALRKQHAAELHLGDFLVFLRRVVSSKAI
QSKMASPKWTEVLLNIASQKCSSGIPLVGNLRTRLLALHVLEAVLPACESGVEDDQMAQI
VERLFSLLSDCMWETPIAQAKHAIQIKEKEQEIKLQKQGELEEEDENLPIQEVSFDPEKA
QCCLVENGQILTHGSGGKGYGLASTGVTSGCYQWKFYIVKENRGNEGTCVGVSRWPVHDF
NHRTTSDMWLYRAYSGNLYHNGEQTLTLSSFTQGDFITCVLDMEARTISFGKNGEEPKLA
FEDVDAAELYPCVMFYSSNPGEKVKICDMQMRGTPRDLLPGDPICSPVAAVLAEATIQLI
RILHRTDRWTYCINKKMMERLHKIKICIKESGQKLKKSRSVQSREENEMREEKESKEEEK
GKHTRHGLADLSELQLRTLCIEVWPVLAVIGGVDAGLRVGGRCVHKQTGRHATLLGVVKE
GSTSAKVQWDEAEITISFPTFWSPSDTPLYNLEPCEPLPFDVARFRGLTASVLLDLTYLT
GVHEDMGKQSTKRHEKKHRHESEEKGDVEQKPESESALDMRTGLTSDDVKSQSTTSSKSE
NEIASFSLDPTLPSVESQHQITEGKRKNHEHMSKNHDVAQSEIRAVQLSYLYLGAMKSLS
ALLGCSKYAELLLIPKVLAENGHNSDCASSPVVHEDVEMRAALQFLMRHMVKRAVMRSPI
KRALGLADLERAQAMIYKLVVHGLLEDQFGGKIKQEIDQQAEESDPAQQAQTPVTTSPSA
SSTTSFMSSSLEDTTTATTPVTDTETVPASESPGVMPLSLLRQMFSSYPTTTVLPTRRAQ
TPPISSLPTSPSDEVGRRQSLTSPDSQSARPANRTALSDPSSRLSTSPPPPAIAVPLLEM
GFSLRQIAKAMEATGARGEADAQNITVLAMWMIEHPGHEDEEEPQSGSTADSRPGAAVLG
SGGKSNDPCYLQSPGDIPSADAAEMEEGFSESPDNLDHTENAASGSGPSARGRSAVTRRH
KFDLAARTLLARAAGLYRSVQAHRNQSRREGISLQQDPGALYDFNLDEELEIDLDDEAME
AMFGQDLTSDNDILGMWIPEVLDWPTWHVCESEDREEVVVCELCECSVVSFNQHMKRNHP
GCGRSANRQGYRSNGSYVDGWFGGECGSGNPYYLLCGTCREKYLAMKTKSKSTSSERYKG
QAPDLIGKQDSVYEEDWDMLDVDEDEKLTGEEEFELLAGPLGLNDRRIVPEPVQFPDSDP
LGASVAMVTATNSMEETLMQIGCHGSVEKSSSGRITLGEQAAALANPHDRVVALRRVTAA
AQVLLARTMVMRALSLLSVSGSSCSLAAGLESLGLTDIRTLVRLMCLAAAGRAGLSTSPS
AMASTSERSRGGHSKANKPISCLAYLSTAVGCLASNAPSAAKLLVQLCTQNLISAATGVN
LTTVDDSIQRKFLPSFLRGIAEENKLVTSPNFVVTQALVALLADKGAKLRPNYDKSEVEK
KGPLELANALAACCLSSRLSSQHRQWAAQQLVRTLAAHDRDNQTTLQTLADMGGDLRKCS
FIKLEAHQNRVMTCVWCNKKGLLATSGNDGTIRVWNVTKKQYSLQQTCVFNRLEGDAEES
LGSPSDPSFSPVSWSISGKYLAGALEKMVNIWQVNGGKGLVDIQPHWVSALAWPEEGPAT
AWSGESPELLLVGRMDGSLGLIEVVDVSTMHRRELEHCYRKDVSVTCIAWFSEDRPFAVG
YFDGKLLLGTKEPLEKGGIVLIDAHKDTLISMKWDPTGHILMTCAKEDSVKLWGSISGCW
CCLHSLCHPSIVNGIAWCRLPGKGSKLQLLMATGCQSGLVCVWRIPQDTTQTNVTSAEGW
WEQESNCQDGYRKSSGAKCVYQLRGHITPVRTVAFSSDGLALVSGGLGGLMNIWSLRDGS
VLQTVVIGSGAIQTTVWIPEVGVAACSNRSKDVLVVNCTAEWAAANHVLATCRTALKQQG
VLGLNMAPCMRAFLERLPMMLQEQYAYEKPHVVCGDQLVHSPYMQCLASLAVGLHLDQLL
CNPPVPPHHQNCLPDPASWNPNEWAWLECFSTTIKAAEALTNGAQFPESFTVPDLEPVPE
DELVFLMDNSKWINGMDEQIMSWATSRPEDWHLGGKCDVYLWGAGRHGQLAEAGRNVMVP
AAAPSFSQAQQVICGQNCTFVIQANGTVLACGEGSYGRLGQGNSDDLHVLTVISALQGFV
VTQLVTSCGSDGHSMALTESGEVFSWGDGDYGKLGHGNSDRQRRPRQIEALQGEEVVQMS
CGFKHSAVVTSDGKLFTFGNGDYGRLGLGNTSNKKLPERVTALEGYQIGQVACGLNHTLA
VSADGSMVWAFGDGDYGKLGLGNSTAKSSPQKIDVLCGIGIKKVACGTQFSVALTKDGHV
YTFGQDRLIGLPEGRARNHNRPQQIPVLAGVIIEDVAVGAEHTLALASNGDVYAWGSNSE
GQLGLGHTNHVREPTLVTGLQGKNVRQISAGRCHSAAWTAPPVPPRAPGVSVPLQLGLPD
TVPPQYGALREVSIHTVRARLRLLYHFSDLMYSSWRLLNLSPNNQNSTSHYNAGTWGIVQ
GQLRPLLAPRVYTLPMVRSIGKTMVQGKNYGPQITVKRISTRGRKCKPIFVQIARQVVKL
NASDLRLPSRAWKVKLVGEGADDAGGVFDDTITEMCQELETGIVDLLIPSPNATAEVGYN
RDRFLFNPSACLDEHLMQFKFLGILMGVAIRTKKPLDLHLAPLVWKQLCCVPLTLEDLEE
VDLLYVQTLNSILHIEDSGITEESFHEMIPLDSFVGQSADGKMVPIIPGGNSIPLTFSNR
KEYVERAIEYRLHEMDRQVAAVREGMSWIVPVPLLSLLTAKQLEQMVCGMPEISVEVLKK
VVRYREVDEQHQLVQWFWHTLEEFSNEERVLFMRFVSGRSRLPANTADISQRFQIMKVDR
PYDSLPTSQTCFFQLRLPPYSSQLVMAERLRYAINNCRSIDMDNYMLSRNVDNAEGSDTD
Y

Sequence length

4861

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		Antigen processing: Ubiquitination & Proteasome degradation

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	macrocephaly, dysmorphic facies, and psychomotor retardation	rs753780877, rs797045141, rs879253786, rs769677823	N/A

Show/Hide Unknown Diseases (6)

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.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Dental caries	Dental caries	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Megalencephaly Kyphoscoliosis-Overgrowth Syndrome	megalencephaly-severe kyphoscoliosis-overgrowth syndrome	N/A	N/A	GenCC
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Corpus Callosum	Associate	26153217
Autism Spectrum Disorder	Inhibit	26290361
Carcinoma Lobular	Associate	27811364
Cerebellar Diseases	Associate	26153217
Colorectal Neoplasms	Associate	21946537
Intellectual Disability	Associate	26153217
Leukemia	Associate	21946537
Leukemia Myeloid Acute	Associate	31896782
Leukemia Prolymphocytic T Cell	Associate	29352181
Megalencephaly	Associate	26153217
Neurodegenerative Diseases	Associate	26153217
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	25595890
Seizures Febrile	Associate	35022648

HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1)