2. Gene
  3. EHD1 - EH domain containing 1 Gene

EHD1 - EH domain containing 1 Gene

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

中文名称：含 EH 结构域 1

种属: Homo sapiens

同用名: PAST; PAST1; H-PAST; HPAST1

基因 ID: 10938 | 基因类型: protein coding

关于 EHD1

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,851,642-64,879,693 (from NCBI)

This gene has 13 transcripts (splice variants), 223 orthologues and 10 paralogues. Broad expression in bone marrow (RPKM 39.6), testis (RPKM 32.1) and 24 other tissues.

功能概要

该基因属于一个高度保守的基因家族，编码包含 EPS15 同源 (EH) 结构域的蛋白质。蛋白结合 EH 结构域首先在 EPS15 中被发现，EPS15 是表皮生长因子受体的底物。 EH 结构域已被证明是参与蛋白质-蛋白质相互作用和细胞内分选的蛋白质中的重要基序。该基因编码的蛋白质被认为在 IGF1 受体的内吞作用中发挥作用。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2013 年 9 月]

This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

EHD1 基因产物(3)

mRNA Protein Name
NM_001282444.2 NP_001269373.1 EH domain-containing protein 1 isoform 1
NM_001282445.2 NP_001269374.1 EH domain-containing protein 1 isoform 2
NM_006795.4 NP_006786.2 EH domain-containing protein 1 isoform 1

EHD1 蛋白结构

Dynamin_N

Dynamin_N: Dynamin family (61 - 221)

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (446 - 531)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 534 a.a.
蛋白主名 其他名称

EH domain-containing protein 1

PAST homolog 1

关联疾病

疾病名称 别名
Pancreatic Serous Cystic Neoplasm

Pancreatic Serous Neoplasm
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome

Cednik Syndrome

CEDNIK

Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro

Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome

Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma

Neurocutaneous Syndromes
Subvalvular Aortic Stenosis

Fixed Subaortic Stenosis

Subaortic Stenosis

Aortic Stenosis, Subvalvular
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome

CAMRQ1

Des

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

Cerebellar Hypoplasia, Vldlr-Associated

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

Uner Tan Syndrome

Vldlr Cerebellar Hypoplasia

Vldlrch

Vldlr-Associated Cerebellar Hypoplasia

Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

Camrq

Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

Cerebellar Disorder, Nonprogressive, With Intellectual Disability

Cerebellar Hypoplasia, Vldlr Associated

Autosomal Recessive Cerebellar Ataxia With Mental Retardation

Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

Cerebellar Disorder, Nonprogressive, With Mental Retardation

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

Chmrq1

Des-Vldlr

Dysequilibrium Syndrome-Vldlr

Vldlr-Ch

Camrq Syndrome

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

Uts

Cerebellar Hypoplasia Vldlr-Associated

Dialysis Disequilibrium Syndrome
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
Bardet-Biedl Syndrome 1

BBS1

Bardet-Biedl Syndrome 1, Modifier Of

Bardet-Biedl Syndrome

BBS

Bardet-Biedl Syndrome, Type 1

Laurence-Moon-Bardet-Biedl Syndrome
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-RS04221 EHD1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus EHD1 RGD RGD:1309017
Canis familiaris EHD1 VGNC VGNC:51867
Macaca mulatta EHD1 VGNC VGNC:72175
Mus musculus EHD1 MGD MGI:1341878
Felis catus EHD1 VGNC VGNC:61763
Bos taurus EHD1 VGNC VGNC:56263
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