2. Gene
  3. AP1B1 - adaptor related protein complex 1 subunit beta 1 Gene

AP1B1 - adaptor related protein complex 1 subunit beta 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 beta 1

种属: Homo sapiens

同用名: ADTB1; BAM22; KIDAR; AP105A; CLAPB2

基因 ID: 162 | 基因类型: protein coding

关于 AP1B1

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:29,327,680-29,388,570 (from NCBI)

This gene has 9 transcripts (splice variants), 209 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 27.8), lymph node (RPKM 27.6) and 25 other tissues.

功能概要

衔接蛋白复合物 1 位于高尔基复合体的包被囊泡的细胞质表面，它介导网格蛋白向膜的募集和跨膜受体胞质尾部内分选信号的识别。该复合物是由两个大的、一个中的和一个小的适应蛋白亚基组成的异四聚体。由该基因编码的蛋白质是该复合物的大亚基之一，是适应蛋白家族的一员。该基因是候选脑膜瘤基因。可变剪接导致多个转录本变体。[RefSeq 提供，2009 年 10 月]

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

AP1B1 基因产物(8)

mRNA Protein Name
NM_001127.4 NP_001118.3 AP-1 complex subunit beta-1 isoform a
NM_001166019.2 NP_001159491.1 AP-1 complex subunit beta-1 isoform c
NM_001378562.1 NP_001365491.1 AP-1 complex subunit beta-1 isoform d
NM_001378563.1 NP_001365492.1 AP-1 complex subunit beta-1 isoform e
NM_001378564.1 NP_001365493.1 AP-1 complex subunit beta-1 isoform f
NM_001378565.1 NP_001365494.1 AP-1 complex subunit beta-1 isoform g
NM_001378566.1 NP_001365495.1 AP-1 complex subunit beta-1 isoform h
NM_145730.3 NP_663782.2 AP-1 complex subunit beta-1 isoform b
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9733768 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

AP1B1 蛋白结构

Adaptin_N

Adaptin_N: Adaptin N terminal region (15 - 532)

Alpha_adaptinC2

Alpha_adaptinC2: Adaptin C-terminal domain (721 - 821)

B2-adapt-app_C

B2-adapt-app_C: Beta2-adaptin appendage, C-terminal sub-domain (835 - 948)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 949 a.a.
蛋白主名 其他名称

AP-1 complex subunit beta-1

ADTB1, CLAPB2

关联疾病

疾病名称 别名
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Kid Syndrome, Autosomal Recessive

Desmons Syndrome

KIDAR

Ichthyosiform Erythroderma, Corneal Involvement, And Deafness

Ichthyosiform Erythroderma, Corneal Involvement, Deafness

Autosomal Recessive Keratitis-Ichthyosis-Deafness Syndrome
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
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site
Sphenoorbital Meningioma
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
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-RS00776 AP1B1 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 AP1B1 RGD RGD:2064
Bos taurus AP1B1 VGNC VGNC:25976
Felis catus AP1B1 VGNC VGNC:67719
Macaca mulatta AP1B1 VGNC VGNC:69957
Mus musculus AP1B1 MGD MGI:1096368
Canis familiaris AP1B1 VGNC VGNC:37951
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