HERC1 - HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Gene

Homo sapiens

Also known as p532; p619; MDFPMR

Gene ID: 8925 | Gene type: protein coding

About HERC1

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:63,608,618-63,833,948 (from NCBI)

This gene has 15 transcripts (splice variants), 221 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 7.7), ovary (RPKM 7.5) and 25 other tissues.

Summary

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]

HERC1 Products(1)

mRNA	Protein	Name
NM_003922.4	NP_003913.3	probable E3 ubiquitin-protein ligase HERC1

HERC1 Protein Structure

RCC1

SPRY

WD40

RCC1

HECT

0
800
1600
2400
3200
4000
4861 a.a.

Protein Preferred Names

Protein Names

probable E3 ubiquitin-protein ligase HERC1

HECT domain and RCC1-like domain-containing protein 1

Related Diseases

Diseases

Alias

Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation

MDFPMR

Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Iii

ALPS3	Autoimmune Lymphoproliferative Syndrome Type 3
Immunodeficiency, Common Variable, 9, Formerly	Cvid9, Formerly
Autoimmune Lymphoproliferative Syndrome Type Iii	Autoimmune Lymphoproliferative Syndrome 3
Cvid9	Immunodeficiency, Common Variable, 9
Type 3 Autoimmune Lymphoproliferative Syndrome	Immunodeficiency, Variable, Common, Type 9

Chromosome 1q41-Q42 Deletion Syndrome

1q41-Q42 Microdeletion Syndrome	1q41q42 Microdeletion Syndrome
Holoprosencephaly 10, Included	Hpe10, Included
1q41-Q42 Deletion Syndrome	Deletion 1q41-Q42
Monosomy 1q41-Q42	Del(1)(Q41q42)
Monosomy 1q41q42	Chromosome Deletion Syndrome 1q41-Q42
Holoprosencephaly 10

Non-Syndromic X-Linked Intellectual Disability 103

Mrx103

X-Linked Mental Retardation 103

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

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

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06126	HERC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HERC1	VGNC	VGNC:67555
Mus musculus	HERC1	MGD	MGI:2384589
Canis familiaris	HERC1	VGNC	VGNC:41661
Macaca mulatta	HERC1	VGNC	VGNC:73364
Rattus norvegicus	HERC1	RGD	RGD:1306366

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