AP4B1 - adaptor related protein complex 4 subunit beta 1 Gene

Homo sapiens

Also known as CPSQ5; SPG47; BETA-4

Gene ID: 10717 | Gene type: protein coding

About AP4B1

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:113,894,194-113,905,028 (from NCBI)

This gene has 14 transcripts (splice variants), 210 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.1), spleen (RPKM 5.4) and 25 other tissues.

Summary

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

AP4B1 Products(4)

mRNA	Protein	Name
NM_001253852.3	NP_001240781.1	AP-4 complex subunit beta-1 isoform 1
NM_001253853.3	NP_001240782.1	AP-4 complex subunit beta-1 isoform 2
NM_001308312.2	NP_001295241.1	AP-4 complex subunit beta-1 isoform 3
NM_006594.5	NP_006585.2	AP-4 complex subunit beta-1 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22472443	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of AP-4 adaptor complex	IDA IDA: Inferred from direct assay	10066790	GOA
located in cytoplasmic side of trans-Golgi network transport vesicle membrane	IDA IDA: Inferred from direct assay	10066790	GOA
located in cytosol	IDA IDA: Inferred from direct assay	10066790	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	10066790	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP4B1 Protein Structure

Adaptin_N

B2-adapt-app_C

0
200
400
600
739 a.a.

Protein Preferred Names

Protein Names

AP-4 complex subunit beta-1

AP-4 adaptor complex subunit beta

Related Diseases

Diseases

Alias

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

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

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
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

Paraplegia

Paraplegia, Lower

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

46,Xy Sex Reversal 7

SRXY7	46,Xy Sex Reversal, Partial Or Complete, Dhh-Related
46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related	Gdxym
Gonadal Dysgenesis, Xy, Male-Limited	46xy Sex Reversal 7
Gonadal Dysgenesis, Xy, Male Limited	Complete Pure Gonadal Dysgenesis 46,Xy Type
Male-Limited Gonadal Dysgenesis 46,Xy	46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related

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 74, Autosomal Recessive

SPG74	Hereditary Spastic Paraplegia 74
Autosomal Recessive Spastic Paraplegia 74	Autosomal Recessive Spastic Paraplegia Type 74
Paraplegia, Spastic, Autosomal Recessive, Type 74

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

Spastic Paraplegia 63, Autosomal Recessive

SPG63	Hereditary Spastic Paraplegia 63
Spastic Paraplegia 63	Autosomal Recessive Spastic Paraplegia 63
Autosomal Recessive Spastic Paraplegia Type 63	Paraplegia, Spastic, Type 63, Autosomal Recessive

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

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Neuropathy, Hereditary Sensory, Type Iic

HSN2C	Hereditary Sensory Neuropathy Type 2c
Hereditary Sensory Neuropathy Type Iic	Neuropathy, Hereditary Sensory, Type 2c
Neuropathy, Hereditary Sensory, 2c	Hsn Iice
Neuropathy, Sensory, Hereditary, Type Iic

Spastic Paraplegia 11, Autosomal Recessive

SPG11	Hereditary Spastic Paraplegia 11
Hsp-Tcc	Autosomal Recessive Spastic Paraplegia Type 11
Nakamura-Osame Syndrome	Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome
Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum	Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum
Autosomal Recessive Spastic Paraplegia 11	Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum
Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum	Arhsp-Tcc
Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum	Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum
Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum	Paraplegia, Spastic, Autosomal Recessive, Type 11
Nakamura Osame Syndrome

Spastic Paraplegia 5a, Autosomal Recessive

SPG5A	Hereditary Spastic Paraplegia 5a
Autosomal Recessive Spastic Paraplegia 5a	Autosomal Recessive Spastic Paraplegia Type 5a
Spastic Paraplegia 5a	Spastic Paraplegia Type 5a
Spastic Paraplegia Type 5a, Recessive	Autosomal Recessive Spastic Paraplegia
Spastic Paraplegia-5a	Paraplegia, Spastic, Autosomal Recessive, Type 5a

Osteogenesis Imperfecta, Type Xii

Osteogenesis Imperfecta Type 12	OI12
Osteogenesis Imperfecta Type Xii	Oi, Type Xii
Osteogenesis Imperfecta 12	Oi Type Xii
Oi-Xii	Osteogenesis Imperfecta Sillence Type Iii

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

Hereditary Spastic Paraplegia 49

Autosomal Recessive Spastic Paraplegia Type 49	Autosomal Recessive Spastic Paraplegia 49
Spg49	Paraplegia, Spastic, Type 49, Autosomal Recessive

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

Spastic Paraplegia 10, Autosomal Dominant

SPG10	Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10	Spastic Paraplegia 10
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy	Autosomal Dominant Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia	Spastic Paraplegia, Autosomal Dominant
Paraplegia, Spastic, Autosomal Dominant, Type 10

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00796	AP4B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AP4B1	VGNC	VGNC:67731
Bos taurus	AP4B1	VGNC	VGNC:25991
Macaca mulatta	AP4B1	VGNC	VGNC:69972
Mus musculus	AP4B1	MGD	MGI:1337130
Canis familiaris	AP4B1	VGNC	VGNC:37968
Rattus norvegicus	AP4B1	RGD	RGD:1310529

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