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AP1B1 - adaptor related protein complex 1 subunit beta 1 Gene

Also Known as ADTB1; BAM22; KIDAR; AP105A; CLAPB2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 162

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9733768	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

AP1B1 Protein Structure

Adaptin_N

Alpha_adaptinC2

B2-adapt-app_C

0
200
400
600
800
949 a.a.

Protein Preferred Names	Protein Names
AP-1 complex subunit beta-1	ADTB1, CLAPB2

AP1B1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	AP1B1	Q10567	Ap1m1	Mus musculus	P35585	X-Ray Diffraction	23415225
Cross	AP1B1	Q10567	Ap1m1	Mus musculus	P35585	Fluorescence	23415225
Cross	AP1B1	Q10567	Ap1m1	Mus musculus	P35585	X-Ray Diffraction	24843023
Cross	AP1B1	Q10567	Ap1m1	Mus musculus	P35585	GMS	24843023

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00776	AP1B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	AP1B1	NCBI