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

Also Known as p532; p619; MDFPMR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8925

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

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 Set	/	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