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

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含 HECT 和 RLD 结构域的 E3 泛素蛋白连接酶家族成员 1

种属: Homo sapiens

同用名: p532; p619; MDFPMR

基因 ID: 8925 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 HERC 蛋白家族的一个成员。该蛋白刺激 ARF1 和 Rab 蛋白上的鸟嘌呤核苷酸交换。这种蛋白质可能参与膜转运过程。[RefSeq 提供，2012 年 3 月]

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 基因产物(1)

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

HERC1 蛋白结构

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (373 - 418)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (476 - 526)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (529 - 576)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (583 - 629)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (633 - 680)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (683 - 732)

SPRY

SPRY: SPRY domain (2069 - 2190)

WD40

WD40: WD domain, G-beta repeat (3423 - 3456)

WD40

WD40: WD domain, G-beta repeat (3623 - 3653)

WD40

WD40: WD domain, G-beta repeat (3738 - 3775)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (3999 - 4042)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (4100 - 4149)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (4152 - 4201)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (4208 - 4254)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (4257 - 4306)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (4309 - 4357)

HECT

HECT: HECT-domain (ubiquitin-transferase) (4570 - 4838)

  • 0
  • 800
  • 1600
  • 2400
  • 3200
  • 4000
  • 4861 a.a.
蛋白主名 其他名称

probable E3 ubiquitin-protein ligase HERC1

HECT domain and RCC1-like domain-containing protein 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06126 HERC1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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