AP1B1 adaptor related protein complex 1 subunit beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AP1B1provided by HGNC
Official Full Name: adaptor related protein complex 1 subunit beta 1provided by HGNC
Primary source: HGNC:HGNC:554
See related: Ensembl:ENSG00000100280 MIM:600157; AllianceGenome:HGNC:554
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ADTB1; BAM22; KIDAR; AP105A; CLAPB2
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]
Expression: Ubiquitous expression in spleen (RPKM 27.8), lymph node (RPKM 27.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.2

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (29327680..29388570, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (29791092..29851977, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (29723669..29784559, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.
Title: MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.
Novel function for AP-1B during cell migration.
Title: Novel function for AP-1B during cell migration.
Three individuals from two unrelated families in whom a MEDNIK-like phenotype segregates with two homozygous null variants in AP1B1.
Title: Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.
Transduction of affected cells with wild-type AP1B1 rescues the vesicular phenotype.
Title: Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
both ubiquitous (AP-1A) and epithelium-specific (AP-1B) forms of the tetrameric clathrin adaptor AP-1 are capable of carrying out basolateral sorting of ClC-2.
Title: Basolateral sorting of chloride channel 2 is mediated by interactions between a dileucine motif and the clathrin adaptor AP-1.
AP1B regulates basolateral EGFR membrane delivery predominantly in the biosynthetic route in MDCK cells monolayers.
Title: Basolateral EGF receptor sorting regulated by functionally distinct mechanisms in renal epithelial cells.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
The conclude that in addition to its role in endocytosis, ARH cooperates with AP-1B in basolateral exocytosis of LDLR from recycling endosomes.
Title: ARH cooperates with AP-1B in the exocytosis of LDLR in polarized epithelial cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variations in humans associated with differences in the course of hepatitis C.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive keratitis-ichthyosis-deafness syndrome MedGen: C1275089 OMIM: 242150 GeneReviews: IDEDNIK Syndrome	not available

EBI GWAS Catalog

Description
A genome-wide association study of carotid atherosclerosis in HIV-infected men. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	The highly conserved C-terminal dileucine motif (residues 851-856) in the cytosolic domain of HIV-1 gp41 interacts with clathrin-associated AP-1 adaptor complexes	PubMed
	env	The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes	PubMed
Nef	nef	Adaptor-related protein complex 1 (AP-1) is necessary for cross-presentation by MHC-I HLA-A and HLA-B molecules containing a cytoplasmic tail tyrosine signal and that HIV-1 Nef inhibits the cross-presentation in antigen-presenting cells	PubMed
	nef	Exogenous Nef and TNF-alpha synergistically activate NF-kappaB and AP-1 resulting in enhancing viral replication in both chronically infected promonocytic cells and acutely infected primary macrophages	PubMed
	nef	HIV-1 Nef stabilizes AP-1 complexes on endosomal membranes after ADP-ribosylation factor-1 (ARF1) -dependent attachment	PubMed
	nef	The dileucine motif (residues 164-165) in HIV-1 Nef is required for binding to AP-1 complexes and stabilizing their association with membranes	PubMed
	nef	A leucine-based motif near the C-terminus of HIV-1 Nef interacts with AP-1 complexes; residues 164 and 165 in Nef are required for the interaction with AP-1	PubMed
Vpu	vpu	Fusion of the Vpu cytoplasmic domain (residues 28-80) to the BST2 cytoplasmic domain (residues 1-21) enhances binding to the beta, mu, and sigma subunits of adaptor-related protein complex 1 (AP1) in cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH27786 (e-PCR)
- UniSTS:89636

RH17619 (e-PCR)
- UniSTS:37177

REN76685 (e-PCR)
- UniSTS:401485

REN76702 (e-PCR)
- UniSTS:401502

SHGC-81187 (e-PCR)
- UniSTS:102011

ECD09137 (e-PCR)
- UniSTS:290183

AP1B1__4319 (e-PCR)
- UniSTS:462732

GDB:386099 (e-PCR)
- UniSTS:157143

RH122132 (e-PCR)
- UniSTS:134884

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables clathrin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in basolateral protein secretion	NAS Non-traceable Author Statement more info	PubMed
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in melanosome assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in platelet dense granule organization	NAS Non-traceable Author Statement more info	PubMed
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of AP-1 adaptor complex	NAS Non-traceable Author Statement more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytoplasmic vesicle membrane	TAS Traceable Author Statement more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in early endosome	NAS Non-traceable Author Statement more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network membrane	NAS Non-traceable Author Statement more info	PubMed
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: AP-1 complex subunit beta-1

Names: ADTB1, CLAPB2; Golgi adaptor HA1/AP1 adaptin beta subunit; adapter-related protein complex 1 subunit beta-1; adaptor protein complex AP-1 subunit beta-1; adaptor related protein complex 1 beta 1 subunit; beta-1-adaptin; beta-adaptin 1; beta-prime-adaptin; beta1-adaptin; clathrin assembly protein complex 1 beta large chain; plasma membrane adaptor HA2/AP2 adaptor beta subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001127.4 → NP_001118.3 AP-1 complex subunit beta-1 isoform a

See identical proteins and their annotated locations for NP_001118.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC002059, KF457400

Consensus CDS

CCDS13855.1

UniProtKB/Swiss-Prot

C9JRD1, F8WDL0, P78436, Q10567, Q20WL3, Q86X54

Related

ENSP00000350199.2, ENST00000357586.7

Conserved Domains (4) summary

smart00809
Location:726 → 826

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:835 → 948

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
NM_001166019.2 → NP_001159491.1 AP-1 complex subunit beta-1 isoform c

See identical proteins and their annotated locations for NP_001159491.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, and lacks an alternate in-frame exon in both the central and 3' coding regions, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.

Source sequence(s)

AU139022, BC046242, BG999878, CD364485

Consensus CDS

CCDS54515.1

UniProtKB/Swiss-Prot

Q10567

Related

ENSP00000319361.7, ENST00000317368.11

Conserved Domains (4) summary

smart00809
Location:716 → 799

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:808 → 918

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
NM_001378562.1 → NP_001365491.1 AP-1 complex subunit beta-1 isoform d

Status: REVIEWED

Source sequence(s)

AC002059, KF457400

Conserved Domains (4) summary

smart00809
Location:726 → 826

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:835 → 945

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
NM_001378563.1 → NP_001365492.1 AP-1 complex subunit beta-1 isoform e

Status: REVIEWED

Source sequence(s)

AC002059, KF457400

Conserved Domains (4) summary

smart00809
Location:719 → 819

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:828 → 941

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
NM_001378564.1 → NP_001365493.1 AP-1 complex subunit beta-1 isoform f

Status: REVIEWED

Source sequence(s)

AC002059, KF457400

Conserved Domains (4) summary

smart00809
Location:669 → 769

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:778 → 888

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:30 → 57

HEAT; HEAT repeat [structural motif]

pfam01602
Location:1 → 477

Adaptin_N; Adaptin N terminal region
NM_001378565.1 → NP_001365494.1 AP-1 complex subunit beta-1 isoform g

Status: REVIEWED

Source sequence(s)

AC002059, KF457400

Conserved Domains (4) summary

smart00809
Location:662 → 762

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:771 → 884

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:30 → 57

HEAT; HEAT repeat [structural motif]

pfam01602
Location:1 → 477

Adaptin_N; Adaptin N terminal region
NM_001378566.1 → NP_001365495.1 AP-1 complex subunit beta-1 isoform h

Status: REVIEWED

Source sequence(s)

AC002059, KF457400

Conserved Domains (4) summary

smart00809
Location:657 → 757

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:766 → 876

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region
NM_145730.3 → NP_663782.2 AP-1 complex subunit beta-1 isoform b

See identical proteins and their annotated locations for NP_663782.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in both the central and 3' coding regions, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

BC046242, CD364485, CT841508

Consensus CDS

CCDS13856.2

UniProtKB/Swiss-Prot

Q10567

Related

ENSP00000384194.2, ENST00000405198.6

Conserved Domains (4) summary

smart00809
Location:719 → 819

Alpha_adaptinC2; Adaptin C-terminal domain

smart01020
Location:828 → 938

B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain

sd00044
Location:51 → 75

HEAT; HEAT repeat [structural motif]

pfam01602
Location:11 → 534

Adaptin_N; Adaptin N terminal region