AP4B1 - adaptor related protein complex 4 subunit beta 1 Gene

Also Known as CPSQ5; SPG47; BETA-4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10717

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	Referencias	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22472443	GOA

Cellular Component GO Annotation	Evidence	Referencias	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

AP4B1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	AP4B1	Q9Y6B7	TEPSIN	Homo sapiens	Q96N21	Y2H	32073997
Intra	AP4B1	Q9Y6B7	ZNF576	Homo sapiens	Q9H609	Y2H Prey Pooling	25416956
Intra	AP4B1	Q9Y6B7	ZNF576	Homo sapiens	Q9H609	Validated Y2H	25416956
Intra	AP4B1	Q9Y6B7	ZNF576	Homo sapiens	Q9H609	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS00796	AP4B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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