HACE1 - HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 Gene

Also Known as SPPRS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57531

About HACE1

Cytogenetic location: 6q16.3 Genomic coordinates (GRCh38): 6:104,728,094-104,859,919 (from NCBI)

This gene has 12 transcripts (splice variants), 210 orthologues, 24 paralogues and is associated with 4 phenotypes. Broad expression in placenta (RPKM 13.5), testis (RPKM 6.0) and 22 other tissues.

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 suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]

HACE1 Products (11)

mRNA	Protein	Name
NM_001321080.2	NP_001308009.1	E3 ubiquitin-protein ligase HACE1 isoform b
NM_001321083.2	NP_001308012.1	E3 ubiquitin-protein ligase HACE1 isoform c
NM_001321084.2	NP_001308013.1	E3 ubiquitin-protein ligase HACE1 isoform d
NM_001350554.2	NP_001337483.1	E3 ubiquitin-protein ligase HACE1 isoform e
NM_001350555.2	NP_001337484.1	E3 ubiquitin-protein ligase HACE1 isoform f
NM_001350556.2	NP_001337485.1	E3 ubiquitin-protein ligase HACE1 isoform g
NM_001350557.2	NP_001337486.1	E3 ubiquitin-protein ligase HACE1 isoform d
NM_001350558.2	NP_001337487.1	E3 ubiquitin-protein ligase HACE1 isoform d
NM_001350559.2	NP_001337488.1	E3 ubiquitin-protein ligase HACE1 isoform h
NM_001350560.2	NP_001337489.1	E3 ubiquitin-protein ligase HACE1 isoform i
NM_020771.4	NP_065822.2	E3 ubiquitin-protein ligase HACE1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22614015	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	21988917	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	22036506	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	21988917	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi organization	IDA IDA: Inferred from direct assay	21988917	GOA
involved in membrane fusion	IMP IMP: Inferred from mutant phenotype	21988917	GOA
involved in protein K48-linked ubiquitination	IDA IDA: Inferred from direct assay	22036506	GOA
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	21988917	GOA
involved in regulation of cell migration	IMP IMP: Inferred from mutant phenotype	22036506	GOA
involved in ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	22036506	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	21988917	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HACE1 Protein Structure

Ank_2

HECT

0
200
400
600
800
909 a.a.

Protein Preferred Names	Protein Names
E3 ubiquitin-protein ligase HACE1	HECT-type E3 ubiquitin transferase HACE1

HACE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HACE1	Q8IYU2	RAC1	Homo sapiens	P63000	Anti Tag CoIP	22614015
Intra	HACE1	Q8IYU2	RAC1	Homo sapiens	P63000	Confocal	22614015
Intra	HACE1	Q8IYU2	RAC1	Homo sapiens	P63000	Pull Down	22614015
Intra	HACE1	Q8IYU2	OPTN	Homo sapiens	Q96CV9	Y2H	25026213
Intra	HACE1	Q8IYU2	OPTN	Homo sapiens	Q96CV9	Pull Down	25026213
Intra	HACE1	Q8IYU2	OPTN	Homo sapiens	Q96CV9	Anti Bait CoIP	25026213
Intra	HACE1	Q8IYU2	OPTN	Homo sapiens	Q96CV9	Anti Tag CoIP	25026213
Intra	HACE1	Q8IYU2	OPTN	Homo sapiens	Q96CV9	Ubiquitinase Assay	25026213

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome SPPRS Spprs Syndrome Spastic Paraplegia-Psychomotor Retardation-Seizures Syndrome
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Non-Syndromic X-Linked Intellectual Disability 103	Mrx103 X-Linked Mental Retardation 103
Syndromic X-Linked Intellectual Disability Turner Type	Mental Retardation, X-Linked Syndromic, Turner Type Intellectual Disability, X-Linked Syndromic, Turner Type Brooks-Wisniewski-Brown Syndrome Mental Retardation And Macrocephaly Syndrome Mrxst X-Linked Intellectual Disability, Brooks Type Mental Retardation, X-Linked, Syndromic, Turner Type
Non-Syndromic X-Linked Intellectual Disability 101	Mrx101 X-Linked Mental Retardation 101
Ataxia, Sensory, 1, Autosomal Dominant	Autosomal Dominant Sensory Ataxia 1 SNAX1 Adsa Ataxia, Sensory, Type 1, Autosomal Dominant Ataxia, Sensory, Autosomal Dominant
Neuronopathy, Distal Hereditary Motor, Type Iid	HMN2D Hmn Iid Dhmn2d Distal Hereditary Motor Neuronopathy Type 2d Distal Hereditary Motor Neuropathy Type Iid Neuronopathy, Distal Hereditary Motor, Type 2d Neuropathy, Distal Hereditary Motor, Type Iid Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant Distal Spinal Muscular Atrophy With Calf Predominance Neuronopathy, Distal Hereditary Motor, 2d Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant Dhmn Iid Neuropathy, Motor, Distal, Hereditary, Type 2d
Charcot-Marie-Tooth Disease, Axonal, Type 2r	Charcot-Marie-Tooth Disease Type 2r CMT2R Charcot-Marie-Tooth Neuropathy, Type 2r Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r Charcot-Marie-Tooth Disease, Type 2r Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r Charcot-Marie-Tooth Neuropathy Type 2r Charcot-Marie-Tooth Disease 2r Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Neuropathy Axonal Type 2r
Syndromic X-Linked Intellectual Disability Cabezas Type	Cabezas Syndrome Syndromic X-Linked Mental Retardation 15 Mental Retardation, X-Linked, Syndromic 15 Mrss Mrxs15 Mrxsc X-Linked Mental Retardation With Short Stature X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait Mental Retardation, X-Linked, With Short Stature Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
Charcot-Marie-Tooth Disease, Axonal, Type 2p	CMT2P Charcot-Marie-Tooth Disease Axonal Type 2p Charcot-Marie-Tooth Disease Type 2p Charcot-Marie-Tooth Neuropathy, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly Cmt2g, Formerly Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Toothe Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease 2p Charcot-Marie-Tooth Disease, Axonal Type 2g Charcot-Marie-Tooth Neuropathy Axonal Type 2p Cmt2g Charcot-Marie-Tooth Disease, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g
Retinitis Pigmentosa 31	RP31 Retinitis Pigmentosa-31 Retinitis Pigmentosa, Type 31
Kaufman Oculocerebrofacial Syndrome	KOS Blepharophimosis-Ptosis-Intellectual Disability Syndrome Oculocerebrofacial Syndrome, Kaufman Type Bpids Blepharophimosis Ptosis Intellectual Disability Syndrome Blepharophimosis-Ptosis-Intellectual Disability Syndrome Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet Bpid Syndrome
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Gordon Holmes Syndrome	Cerebellar Ataxia And Hypogonadotropic Hypogonadism Lhrh Deficiency And Ataxia Cerebellar Ataxia-Hypogonadism Syndrome GDHS Cahh Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia Gordon-Holmes Syndrome Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia Cerebellar Ataxia - Hypogonadism Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149288	hAChE/hBACE-1-IN-2	Inhibitor	/	Unkown
HY-175521	HIF-1α-IN-8	Inhibitor	/	Unkown
HY-RS05987	HACE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22546	Hace1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29066	Hace1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HACE1	VGNC	VGNC:29739
Rattus norvegicus	HACE1	RGD	RGD:1306114
Felis catus	HACE1	VGNC	VGNC:62748
Canis familiaris	HACE1	VGNC	VGNC:41583
Mus musculus	HACE1	MGD	MGI:2446110
Macaca mulatta	HACE1	VGNC	VGNC:73206
Others	HACE1	NCBI