1. Gene
  2. AP4M1 - adaptor related protein complex 4 subunit mu 1 Gene

AP4M1 - adaptor related protein complex 4 subunit mu 1 Gene

中文名称:适配器相关蛋白复合物 4 亚基 mu 1

种属: Homo sapiens

同用名: MU-4; CPSQ3; SPG50; MU-ARP2

基因 ID: 9179 | 基因类型: protein coding

关于 AP4M1

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,100,794-100,109,039 (from NCBI)

This gene has 17 transcripts (splice variants), 189 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 12.8), endometrium (RPKM 6.9) and 25 other tissues.

功能概要

该基因编码异四聚体 AP-4 复合物的一个亚基。编码的蛋白质属于衔接复合物中等亚基家族。这种 AP-4 复合物参与从跨高尔基体网络到内体-溶酶体系统的基于酪氨酸基序的货物蛋白的识别和分类。[RefSeq 提供,2008 年 7 月]

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]

AP4M1 基因产物(2)

mRNA Protein Name
NM_001363671.2 NP_001350600.1 AP-4 complex subunit mu-1 isoform 2
NM_004722.4 NP_004713.2 AP-4 complex subunit mu-1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
enables protein domain specific binding IDA
IDA: 通过直接分析推断
11139587 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to endosome transport IMP
IMP: 通过突变表型推断
20230749 GOA
involved in Golgi to lysosome transport IDA
IDA: 通过直接分析推断
11139587 GOA
involved in autophagosome assembly IMP
IMP: 通过突变表型推断
29180427 GOA
involved in intracellular protein transport IMP
IMP: 通过突变表型推断
20230749 GOA
involved in protein targeting IDA
IDA: 通过直接分析推断
20230749 GOA
involved in protein targeting to lysosome IDA
IDA: 通过直接分析推断
11139587 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of AP-4 adaptor complex IDA
IDA: 通过直接分析推断
10066790 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
20230749 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

AP4M1 蛋白结构

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (34 - 130)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (176 - 453)

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

AP-4 complex subunit mu-1

AP-4 adaptor complex mu subunit

AP4M1 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
AP4M1 O00189 TEPSIN Homo sapiens Q96N21
Y2H
32073997
种属内
AP4M1 O00189 TEPSIN Homo sapiens Q96N21
Anti Tag CoIP
26496610
种属内
AP4M1 O00189 USP47 Homo sapiens Q96K76-3
Validated Y2H
32296183
种属内
AP4M1 O00189 USP47 Homo sapiens Q96K76
Validated Y2H
25416956
种属内
AP4M1 O00189 USP47 Homo sapiens Q96K76
Y2H Array
25416956
种属内
AP4M1 O00189 FNTA Homo sapiens P49354
Validated Y2H
32296183
种属内
AP4M1 O00189 HOOK1 Homo sapiens Q9UJC3
Y2H
32073997
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
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

Spastic Paraplegia 51, Autosomal Recessive

SPG51

Spastic Paraplegia 51

Ap4 Deficiency Syndrome

Cpsq4

Cerebral Palsy, Spastic Quadriplegic, 4

Severe Intellectual Disability And Progressive Spastic Paraplegia

Cerebral Palsy, Spastic Quadriplegic, 4, Formerly

Cpsq4, Formerly

Autosomal Recessive Spastic Paraplegia 51

Cerebral Palsy, Spastic Quadriplegic 4

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Non-Syndromic X-Linked Intellectual Disability 46

Mrx46

Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spastic Paraplegia 47, Autosomal Recessive

Hereditary Spastic Paraplegia 47

SPG47

Cpsq5

Cerebral Palsy, Spastic Quadriplegic, 5, Formerly

Cpsq5, Formerly

Autosomal Recessive Spastic Paraplegia 47

Spastic Quadriplegic Cerebral Palsy 5

Cerebral Palsy, Spastic Quadriplegic 5

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Hermansky-Pudlak Syndrome 2

HPS2

Hermansky Pudlak Syndrome 2

Platelet Defects And Oculocutaneous Albinism

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 2

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Spastic Paraplegia 53, Autosomal Recessive

SPG53

Hereditary Spastic Paraplegia 53

Autosomal Recessive Spastic Paraplegia Type 53

Autosomal Recessive Spastic Paraplegia 53

Paraplegia, Spastic, Type 53, Autosomal Recessive

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome

Woodhouse Sakati Syndrome

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome

WDSKS

Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia

Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome

Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia

Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome

Neuroectodermal Endocrine Syndrome

Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome

Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities

Wss

Multiple Personality Disorder

Dissociative Identity Disorder

Multiple Personality

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Spastic Diplegia

Diplegic Infantile Cerebral Palsy

Little'S Disease

Cerebral Palsy

Cerebral Spastic Infantile Paralysis

Infantile Diplegic Cerebral Palsy

Infantile Spastic Cerebral Palsy

Littles Disease

Spastic Cerebral Palsy

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

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic

Infantile Hemiplegia Nos

Postnatal Infantile Hemiplegia Nos

Congenital Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy

Congenital Hemiplegia Nos

Hemiplegic Cerebral Palsy

Hemiplegic Infantile Cerebral Palsy

Spastic Paraplegia 2, X-Linked

SPG2

Hereditary Spastic Paraplegia 2

Sppx2

Spastic Paraplegia Type 2

Spastic Paraplegia 2

Hereditary X-Linked Recessive Spastic Paraplegia

X-Linked Spastic Paraplegia 2

X Linked Recessive Hereditary Spastic Paraplegia

Spastic Gait Type 2

Spastic Paraparesis Type 2

X-Linked Spastic Paraplegia Type 2

Spastic Paraplegia Type 2, X-Linked

Spastic Paraplegia-2

Paraplegia, Spastic, Type 2

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris AP4M1 VGNC VGNC:37970
Macaca mulatta AP4M1 VGNC VGNC:69974
Felis catus AP4M1 VGNC VGNC:67732
Bos taurus AP4M1 VGNC VGNC:25993
Mus musculus AP4M1 MGD MGI:1337063
Rattus norvegicus AP4M1 RGD RGD:1310233