2. Gene
  3. AP1M1 - adaptor related protein complex 1 subunit mu 1 Gene

AP1M1 - adaptor related protein complex 1 subunit mu 1 Gene

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

中文名称：适配器相关蛋白复合物 1 亚基 mu 1

种属: Homo sapiens

同用名: AP47; mu1A; CLTNM; MU-1A; CLAPM2

基因 ID: 8907 | 基因类型: protein coding

关于 AP1M1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:16,197,911-16,245,906 (from NCBI)

This gene has 15 transcripts (splice variants), 209 orthologues and 7 paralogues. Ubiquitous expression in testis (RPKM 31.3), brain (RPKM 17.8) and 25 other tissues.

功能概要

该基因编码的蛋白质是跨高尔基体网络网格蛋白相关蛋白复合物 AP-1 的中链。该复合物的其他成分是 beta-prime-adaptin、gamma-adaptin 和小链 AP1S1。该复合体位于高尔基体小泡并将网格蛋白连接到包被小泡中的受体。这些囊泡参与内吞作用和高尔基体加工。已发现该基因编码不同蛋白质亚型的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

AP1M1 基因产物(2)

mRNA Protein Name
NM_001130524.2 NP_001123996.1 AP-1 complex subunit mu-1 isoform 1
NM_032493.4 NP_115882.1 AP-1 complex subunit mu-1 isoform 2

AP1M1 蛋白结构

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (5 - 133)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (157 - 421)

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

AP-1 complex subunit mu-1

AP-mu chain family member mu1A

关联疾病

疾病名称 别名
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome

Erythrokeratodermia Variabilis 3

MEDNIK

Ekv3

Erythrokeratodermia Variabilis, Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia

Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Erythrokeratodermia Variabilis Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma
Pettigrew Syndrome

PGS

Mrxs5

Mrx59

Mrxs21

X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome

Mental Retardation, X-Linked, Syndromic 5

Mrxsf

Syndromic X-Linked Intellectual Disability 5

Fried Syndrome

Mental Retardation, X-Linked Syndromic 5

Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures

Mental Retardation, X-Linked, Syndromic, Fried Type

Mental Retardation, X-Linked, Syndromic 21

Syndromic X-Linked Mental Retardation 21

Syndromic X-Linked Mental Retardation Fried Type

X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures

Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An

Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures

X-Linked Syndromic Intellectual Disability 5

X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures

X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures

X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome

Mental Retardation, X-Linked Syndromic, Fried Type

Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures

Mental Retardation, X-Linked 59
Intermittent Squint

Intermittent Heterotropia

Intermittent Tropia
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-RS00779 AP1M1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus AP1M1 MGD MGI:102776
Macaca mulatta AP1M1 VGNC VGNC:69824
Canis familiaris AP1M1 VGNC VGNC:37954
Felis catus AP1M1 VGNC VGNC:59840
Rattus norvegicus AP1M1 RGD RGD:1307653
Bos taurus AP1M1 VGNC VGNC:25979
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