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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57531
Gene name	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
Gene symbol	HACE1
Synonyms (NCBI Gene)	SPPRS
Chromosome	6
Chromosome location	6q16.3
Summary	This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs750371878	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs751809418	TG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs761086584	G>A,T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs761703540	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs869025280	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs869025281	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs869025283	GAA>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs869025284	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, intron variant, synonymous variant, non coding transcript variant
rs1337798545	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554244625	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554245388	CTGTACAC>-	Likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs1554263840	A>C	Likely-pathogenic	Splice donor variant
rs1582418143	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582771457	G>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant

175

Show/Hide all (175)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000855	hsa-miR-15a-5p	Microarray	18362358
MIRT000854	hsa-miR-16-5p	Microarray	18362358
MIRT016517	hsa-miR-193b-3p	Microarray	20304954
MIRT097927	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT708113	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT708112	hsa-miR-567	HITS-CLIP	21572407
MIRT238687	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT097918	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT097925	hsa-miR-3924	HITS-CLIP	21572407
MIRT708111	hsa-miR-297	HITS-CLIP	21572407
MIRT708109	hsa-miR-6083	HITS-CLIP	21572407
MIRT675640	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT675639	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT675638	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT675637	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT675636	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT675635	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT675634	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT675633	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT675632	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT675631	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT675630	hsa-miR-612	HITS-CLIP	23824327
MIRT675629	hsa-miR-6860	HITS-CLIP	23824327
MIRT675628	hsa-miR-4424	HITS-CLIP	23824327
MIRT675627	hsa-miR-4252	HITS-CLIP	23824327
MIRT675626	hsa-miR-661	HITS-CLIP	23824327
MIRT675625	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT675624	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT675623	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT675622	hsa-miR-7703	HITS-CLIP	23824327
MIRT623722	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT623721	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT623720	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT623719	hsa-miR-1179	HITS-CLIP	23824327
MIRT623718	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT484592	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT484593	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT484591	hsa-miR-1321	PAR-CLIP	23592263
MIRT484590	hsa-miR-4739	PAR-CLIP	23592263
MIRT484589	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT484588	hsa-miR-4419a	PAR-CLIP	23592263
MIRT484587	hsa-miR-4510	PAR-CLIP	23592263
MIRT484586	hsa-miR-6127	PAR-CLIP	23592263
MIRT484585	hsa-miR-6129	PAR-CLIP	23592263
MIRT484584	hsa-miR-6130	PAR-CLIP	23592263
MIRT484583	hsa-miR-6133	PAR-CLIP	23592263
MIRT484582	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT484581	hsa-miR-4306	PAR-CLIP	23592263
MIRT484580	hsa-miR-4644	PAR-CLIP	23592263
MIRT484579	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT484578	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT484576	hsa-miR-8085	PAR-CLIP	23592263
MIRT484577	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT484575	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT484574	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT484573	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT484572	hsa-miR-3175	PAR-CLIP	23592263
MIRT484571	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT484570	hsa-miR-5698	PAR-CLIP	23592263
MIRT484569	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT484567	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT484568	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT484566	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT675638	hsa-miR-1273g-3p	PAR-CLIP	27292025
MIRT675627	hsa-miR-4252	PAR-CLIP	27292025
MIRT097927	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT708113	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT708112	hsa-miR-567	HITS-CLIP	21572407
MIRT238687	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT097918	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT097925	hsa-miR-3924	HITS-CLIP	21572407
MIRT708111	hsa-miR-297	HITS-CLIP	21572407
MIRT708109	hsa-miR-6083	HITS-CLIP	21572407
MIRT675640	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT675639	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT675638	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT675637	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT675636	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT675635	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT675634	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT675633	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT675632	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT675631	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT675630	hsa-miR-612	HITS-CLIP	23824327
MIRT675629	hsa-miR-6860	HITS-CLIP	23824327
MIRT675628	hsa-miR-4424	HITS-CLIP	23824327
MIRT675627	hsa-miR-4252	HITS-CLIP	23824327
MIRT675626	hsa-miR-661	HITS-CLIP	23824327
MIRT675625	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT675624	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT675623	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT675622	hsa-miR-7703	HITS-CLIP	23824327
MIRT623722	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT623721	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT623720	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT623719	hsa-miR-1179	HITS-CLIP	23824327
MIRT623718	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT484592	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT484593	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT484591	hsa-miR-1321	PAR-CLIP	23592263
MIRT484590	hsa-miR-4739	PAR-CLIP	23592263
MIRT484589	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT484588	hsa-miR-4419a	PAR-CLIP	23592263
MIRT484587	hsa-miR-4510	PAR-CLIP	23592263
MIRT484586	hsa-miR-6127	PAR-CLIP	23592263
MIRT484585	hsa-miR-6129	PAR-CLIP	23592263
MIRT484584	hsa-miR-6130	PAR-CLIP	23592263
MIRT484583	hsa-miR-6133	PAR-CLIP	23592263
MIRT484582	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT484581	hsa-miR-4306	PAR-CLIP	23592263
MIRT484580	hsa-miR-4644	PAR-CLIP	23592263
MIRT484579	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT484578	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT484576	hsa-miR-8085	PAR-CLIP	23592263
MIRT484577	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT484575	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT484574	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT484573	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT484572	hsa-miR-3175	PAR-CLIP	23592263
MIRT484571	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT484570	hsa-miR-5698	PAR-CLIP	23592263
MIRT484569	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT484567	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT484568	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT484566	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT1040371	hsa-miR-1	CLIP-seq
MIRT1040372	hsa-miR-1297	CLIP-seq
MIRT1040373	hsa-miR-205	CLIP-seq
MIRT1040374	hsa-miR-206	CLIP-seq
MIRT1040375	hsa-miR-2467-3p	CLIP-seq
MIRT1040376	hsa-miR-26a	CLIP-seq
MIRT1040377	hsa-miR-26b	CLIP-seq
MIRT1040378	hsa-miR-3123	CLIP-seq
MIRT1040379	hsa-miR-340	CLIP-seq
MIRT1040380	hsa-miR-34a	CLIP-seq
MIRT1040381	hsa-miR-34c-5p	CLIP-seq
MIRT1040382	hsa-miR-3668	CLIP-seq
MIRT1040383	hsa-miR-3673	CLIP-seq
MIRT1040384	hsa-miR-376c	CLIP-seq
MIRT1040385	hsa-miR-4257	CLIP-seq
MIRT1040386	hsa-miR-4272	CLIP-seq
MIRT1040387	hsa-miR-4465	CLIP-seq
MIRT1040388	hsa-miR-449a	CLIP-seq
MIRT1040389	hsa-miR-449b	CLIP-seq
MIRT1040390	hsa-miR-4528	CLIP-seq
MIRT1040391	hsa-miR-4666-5p	CLIP-seq
MIRT1040392	hsa-miR-4694-3p	CLIP-seq
MIRT1040393	hsa-miR-4718	CLIP-seq
MIRT1040394	hsa-miR-4724-3p	CLIP-seq
MIRT1040395	hsa-miR-4775	CLIP-seq
MIRT1040396	hsa-miR-522	CLIP-seq
MIRT1040397	hsa-miR-584	CLIP-seq
MIRT1040398	hsa-miR-590-3p	CLIP-seq
MIRT1040399	hsa-miR-613	CLIP-seq
MIRT1040400	hsa-miR-935	CLIP-seq
MIRT1040391	hsa-miR-4666-5p	CLIP-seq
MIRT2008423	hsa-miR-4799-5p	CLIP-seq
MIRT2008424	hsa-miR-513a-3p	CLIP-seq
MIRT1040398	hsa-miR-590-3p	CLIP-seq
MIRT2008425	hsa-miR-622	CLIP-seq
MIRT2240906	hsa-miR-1207-3p	CLIP-seq
MIRT2240907	hsa-miR-1226	CLIP-seq
MIRT2240908	hsa-miR-1255a	CLIP-seq
MIRT2240909	hsa-miR-1255b	CLIP-seq
MIRT2240910	hsa-miR-1283	CLIP-seq
MIRT2240911	hsa-miR-1287	CLIP-seq
MIRT2240912	hsa-miR-193a-3p	CLIP-seq
MIRT2240913	hsa-miR-193b	CLIP-seq
MIRT2240914	hsa-miR-329	CLIP-seq
MIRT2240915	hsa-miR-362-3p	CLIP-seq
MIRT2240916	hsa-miR-616	CLIP-seq
MIRT2240917	hsa-miR-889	CLIP-seq
MIRT1040400	hsa-miR-935	CLIP-seq
MIRT2388894	hsa-miR-3143	CLIP-seq
MIRT2388895	hsa-miR-543	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	21988917
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	21988917, 22036506
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	22614015, 25026213, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	22036506
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IDA	21988917
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IDA	21988917
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016601	Process	Rac protein signal transduction	TAS	22036506
GO:0016604	Component	Nuclear body	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0030334	Process	Regulation of cell migration	IMP	22036506
GO:0031267	Function	Small GTPase binding	IDA	21988917
GO:0031267	Function	Small GTPase binding	IPI	22036506
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0061025	Process	Membrane fusion	IBA
GO:0061025	Process	Membrane fusion	IMP	21988917
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	22036506

MIM	HGNC	e!Ensembl
610876	21033	ENSG00000085382

Q8IYU2

Protein name

E3 ubiquitin-protein ligase HACE1 (EC 2.3.2.26) (HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1) (HECT-type E3 ubiquitin transferase HACE1)

Protein function

E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases (PubMed:15254018, PubMed:21988917, PubMed:22036506, PubMed:37537642, PubMed:38332367). Acts as a regulator of Golgi membrane dynamics during the cell c

PDB

8H8X , 8HAE , 8PWL , 8Q0N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	34 → 128	Ankyrin repeats (3 copies)	Repeat
PF13637	Ank_4	131 → 184		Repeat
PF13637	Ank_4	164 → 217		Repeat
PF00632	HECT	602 → 909	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in multiple tissues including heart, brain and kidney. {ECO:0000269|PubMed:15254018}.

Sequence

MERAMEQLNRLTRSLRRARTVELPEDNETAVYTLMPMVMADQHRSVSELLSNSKFDVNYA
FGRVKRSLLHIAANCGSVECLVLLLKKGANPNYQDISGCTPLHLAARNGQKKCMSKLLEY
SADVNICNNEGLTAIHWLAVNGRTELLHDLVQHVSDVDVEDAMGQTALHVACQNGHKTTV
QCLLDSGADINRPNVSGATPLYFACSHGQRDTAQILLLRGAKYLPDKNGVTPLDLCVQGG
YGETCEVLIQYHPRLFQTIIQMTQNEDLRENMLRQVLEHLSQQSESQYLKILTSLAEVAT
TNGHKLLSLSSNYDAQMKSLLRIVRMFCHVFRIGPSSPSNGIDMGYNGNKTPRSQVFKPL
ELLWHSLDEWLVLIATELMKNKRDSTEITSILLKQKGQDQDAASIPPFEPPGPGSYENLS
TGTRESKPDALAGRQEASADCQDVISMTANRLSAVIQAFYMCCSCQMPPGMTSPRFIEFV
CKHDEVLKCFVNRNPKIIFDHFHFLLECPELMSRFMHIIKAQPFKDRCEWFYEHLHSGQP
DSDMVHRPVNENDILLVHRDSIFRSSCEVVSKANCAKLKQGIAVRFHGEEGMGQGVVREW
FDILSNEIVNPDYALFTQSADGTTFQPNSNSYVNPDHLNYFRFAGQILGLALNHRQLVNI
YFTRSFYKHILGIPVNYQDVASIDPEYAKNLQWILDNDISDLGLELTFSVETDVFGAMEE
VPLKPGGGSILVTQNNKAEYVQLVTELRMTRAIQPQINAFLQGFHMFIPPSLIQLFDEYE
LELLLSGMPEIDVSDWIKNTEYTSGYEREDPVIQWFWEVVEDITQEERVLLLQFVTGSSR
VPHGGFANIMGGSGLQNFTIAAVPYTPNLLPTSSTCINMLKLPEYPSKEILKDRLLVALH
CGSYGYTMA

Sequence length

909

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Generalized hypotonia	Pathogenic	rs750371878	RCV001003961
Global developmental delay	Pathogenic	rs750371878	RCV001003961
HACE1-related disorder	Likely pathogenic	rs1783022008	RCV003414345
Intellectual disability	Pathogenic	rs750371878	RCV005625446
Psychomotor retardation	Likely pathogenic	rs1582771457	RCV000788088
Seizure	Pathogenic	rs750371878	RCV001003961
Spastic paraplegia-severe developmental delay-epilepsy syndrome	Pathogenic; Likely pathogenic	rs1319508199, rs2114793034, rs2115167557, rs2484021103, rs869025280, rs869025281, rs751809418, rs869025284, rs750371878, rs761086584, rs2483372241, rs2483143302, rs1337798545, rs1582418143, rs759641985	RCV001823786 RCV001782244 RCV002274460 RCV002287613 RCV000207128 RCV000207215 RCV000207222 RCV000207034 RCV000207161 RCV000207289 RCV003994805 RCV004577423 RCV000661911 RCV000987756 RCV005036394

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign	rs34365906	RCV005910133
Hepatocellular carcinoma	Benign	rs34365906	RCV005910132
Lung cancer	Benign	rs34365906	RCV005910136
Melanoma	Benign	rs34365906	RCV005910135
Ovarian serous cystadenocarcinoma	Benign	rs34365906	RCV005910134
Pancreatic adenocarcinoma	Uncertain significance	rs374813736	RCV005924257
Uterine corpus endometrial carcinoma	Benign	rs34365906	RCV005910137

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atrophy	Associate	28584243
Carcinoma Hepatocellular	Inhibit	33455098
Colonic Neoplasms	Inhibit	18630515
Colorectal Neoplasms	Associate	18630515, 19528486
Developmental Disabilities	Associate	26424145, 36553453
GATA2 Deficiency	Associate	19965620, 23142381
Glioma	Associate	34815381
Immunologic Deficiency Syndromes	Associate	26424145
Intellectual Disability	Associate	36553453
Intestinal Diseases	Associate	28584243
Laryngeal Neoplasms	Associate	27002759
Lymphatic Metastasis	Associate	18630515, 19528486, 33455098
Mental Retardation Autosomal Recessive 4	Associate	26424145
Mental Retardation with Spastic Paraplegia	Associate	36553453
Muscle Hypotonia	Associate	36553453
Muscle Spasticity	Associate	36553453
Necrosis	Associate	33455098
Neoplasms	Inhibit	18630515, 19965620, 23142381, 25203537, 26424145, 27002759, 27213432, 34815381, 37537642
Neoplasms	Associate	19528486, 21690554, 28317937, 33455098
Neuroblastoma	Associate	22941191, 23222812
Paraplegia	Associate	36553453
Sarcoma Kaposi	Associate	30787155
Stomach Neoplasms	Associate	19528486, 35343092
Stomach Neoplasms	Inhibit	28584243
Thyroid Neoplasms	Inhibit	34092745
Virus Diseases	Associate	30787155
Wilms Tumor	Inhibit	18630515

HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1)