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

Homo sapiens

Also known as SPPRS

Gene ID: 57531 | Gene type: protein coding

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

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149288	hAChE/hBACE-1-IN-2	Inhibitor	/	Unkown
HY-RS05987	HACE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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