AAGAB - alpha and gamma adaptin binding protein Gene

中文名称：α和γ适应蛋白结合蛋白

种属: Homo sapiens

同用名: p34; KPPP1; PPKP1; PPKP1A

基因 ID: 79719 | 基因类型: protein coding

关于 AAGAB

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:67,200,667-67,255,198 (from NCBI)

This gene has 7 transcripts (splice variants), 202 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 12.8), colon (RPKM 11.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质与参与网格蛋白包被的囊泡运输的复合物的 γ-适应蛋白和 α-适应蛋白亚基相互作用。该基因的突变与 I 型点状掌跖角化病有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 12 月]

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

AAGAB 基因产物(3)

mRNA	Protein	Name
NM_001271885.2	NP_001258814.1	alpha- and gamma-adaptin-binding protein p34 isoform 2
NM_001271886.2	NP_001258815.1	alpha- and gamma-adaptin-binding protein p34 isoform 2
NM_024666.5	NP_078942.3	alpha- and gamma-adaptin-binding protein p34 isoform 1

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	25416956	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

AAGAB 蛋白结构

Adaptin_binding

0
100
200
315 a.a.

蛋白主名

其他名称

alpha- and gamma-adaptin-binding protein p34

AAGAB 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	AAGAB	Q6PD74	AP1G1	Homo sapiens	O43747-2	Anti Tag CoIP	28514442
种属内	AAGAB	Q6PD74	HEATR1	Homo sapiens	Q96ES5	Validated Y2H	25416956
种属内	AAGAB	Q6PD74	HEATR1	Homo sapiens	Q96ES5	Y2H Prey Pooling	25416956
种属内	AAGAB	Q6PD74	HEATR1	Homo sapiens	Q96ES5	Y2H Array	25416956
种属内	AAGAB	Q6PD74	AP1S3	Homo sapiens	Q96PC3-2	Validated Y2H	32296183
种属内	AAGAB	Q6PD74	AP2A2	Homo sapiens	O94973	Anti Tag CoIP	33961781
种属内	AAGAB	Q6PD74	AP2S1	Homo sapiens	P53680	Y2H Prey Pooling	25416956
种属内	AAGAB	Q6PD74	AP2S1	Homo sapiens	P53680	Y2H Array	29892012
种属内	AAGAB	Q6PD74	AP2S1	Homo sapiens	P53680	Validated Y2H	25416956
种属内	AAGAB	Q6PD74	AP1S3	Homo sapiens	Q96PC3	Y2H Prey Pooling	25416956
种属内	AAGAB	Q6PD74	AP1S3	Homo sapiens	Q96PC3	Validated Y2H	25416956
种属内	AAGAB	Q6PD74	AP1S3	Homo sapiens	Q96PC3	Anti Tag CoIP	33961781

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Palmoplantar Keratoderma, Punctate Type Ia

Keratosis Palmoplantaris Papulosa	Punctate Palmoplantar Keratoderma Type I
Ppkp1	Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type
PPKP1A	Kppp1
Punctate Palmoplantar Keratoderma Type 1	Palmoplantar Keratoderma, Punctate Type 1a
Palmoplantar Keratoderma, Punctate Type I	Keratoderma, Palmoplantar, Punctate Type Ia
Punctate Palmoplantar Keratoderma Type 1a	Punctate Palmoplantar Keratoderma Type 1b
Brauer-Buschke-Fischer Syndrome	Keratoderma, Palmoplantar Punctate Type 1
Type I Punctate Palmoplantar Keratoderma	Buschke-Fischer-Brauer Syndrome
Keratoderma, Palmoplantar, Punctate 1a	Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type
Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type	Punctate Palmoplantar Keratoderma Type Ia
Keratoderma, Palmoplantar, Punctate Type 1	Keratoderma, Palmoplantar, Punctate, Type Ia

Punctate Palmoplantar Keratoderma

Punctate Palmoplantar Hyperkeratosis	Punctate Keratosis Palmoplantaris
Punctate Ppk

Palmoplantar Keratosis

Palmoplantar Keratoderma	Keratosis Palmaris Et Plantaris
Palmo-Plantar Keratodermas	Keratoderma, Palmoplantar
Keratoderma Palmoplantar	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis Of Palms And Soles	Palmoplantar Hyperkeratosis

Palmoplantar Keratoderma, Punctate Type Ii

PPKP2	Porokeratosis Punctata Palmaris Et Plantaris
Pppp	Punctate Palmoplantar Keratoderma Type 2
Punctate Palmoplantar Keratoderma Type Ii	Punctate Palmoplantar Hyperkeratosis Type 2
Keratoderma Palmoplantar, Punctate Type 2	Type 2 Punctate Ppk
Keratoderma, Palmoplantar, Punctate Type Ii	Porokeratosis, Palmoplantar

Plantar Wart

Verruca Plantaris	Verrucae On Sole Of Foot
Mosaic Plantar Warts

Spastic Paraplegia 50, Autosomal Recessive

Hereditary Spastic Paraplegia 50	SPG50
Ap-4 Deficiency Syndrome	Ap-4-Associated Hereditary Spastic Paraplegia
Adaptor Protein Complex 4 Deficiency	Cerebral Palsy, Spastic Quadriplegic, 3, Formerly
Cpsq3, Formerly	Autosomal Recessive Spastic Paraplegia 50
Cpsq3	Spastic Quadriplegic Cerebral Palsy 3
Ap-4 Deficiency	Ap-4-Associated Hsp
Paraplegia, Spastic, Autosomal Recessive, Type 50	Spastic Paraplegia-50, Autosomal Recessive

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

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome	Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques
Palmoplantar And Periorificial Keratoderma	Olms

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00019	AAGAB Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	AAGAB	VGNC	VGNC:37409
Bos taurus	AAGAB	VGNC	VGNC:25442
Mus musculus	AAGAB	MGD	MGI:1914189
Macaca mulatta	AAGAB	VGNC	VGNC:107990
Felis catus	AAGAB	VGNC	VGNC:59450
Rattus norvegicus	AAGAB	RGD	RGD:621601

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

AAGAB - alpha and gamma adaptin binding protein Gene

关于 AAGAB

功能概要

AAGAB 基因产物(3)

AAGAB 蛋白结构

AAGAB 蛋白互作信息

关联疾病

直系同源

热门区域

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AAGAB - alpha and gamma adaptin binding protein Gene

关于 AAGAB

功能概要

AAGAB 基因产物(3)

AAGAB 蛋白结构

AAGAB 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z