AP1B1 - adaptor related protein complex 1 subunit beta 1 Gene

Homo sapiens

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

Gene ID: 162 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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