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

Gene ID: 162, updated on 5-Mar-2024

Summary

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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
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Genomic context

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See AP1B1 in Genome Data Viewer
Location:
22q12.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29327680..29388570, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29791092..29851977, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29723669..29784559, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29702393-29703136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29710073-29710877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29710878-29711682 Neighboring gene growth arrest specific 2 like 1 Neighboring gene RAS like family 10 member A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29726349-29727305 Neighboring gene small nucleolar RNA, C/D box 125 Neighboring gene ret finger protein like 1 Neighboring gene uncharacterized LOC102723305 Neighboring gene ret finger protein like 4A pseudogene 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1. Ito Y, et al. J Eur Acad Dermatol Venereol, 2021 May. PMID 33349978
  2. Novel function for AP-1B during cell migration. Kell MJ, et al. Mol Biol Cell, 2020 Oct 15. PMID 32816642, Free PMC Article
  3. Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. Alsaif HS, et al. Am J Hum Genet, 2019 Nov 7. PMID 31630791, Free PMC Article
  4. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. Boyden LM, et al. Am J Hum Genet, 2019 Nov 7. PMID 31630788, Free PMC Article
  5. Structure of the promoter and genomic organization of the human beta'-adaptin gene (BAM22) from chromosome 22q12. Peyrard M, et al. Genomics, 1996 Aug 15. PMID 8812422

See all (142) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.
    Title: MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.
  2. Novel function for AP-1B during cell migration.
    Title: Novel function for AP-1B during cell migration.
  3. 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.
  4. Transduction of affected cells with wild-type AP1B1 rescues the vesicular phenotype.
    Title: Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variations in humans associated with differences in the course of hepatitis C.
Submit: New GeneRIF Correction

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: Not available
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EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

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 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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    29327680..29388570 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    29791092..29851977 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q10567.3 GenPept UniProtKB/Swiss-Prot:Q10567

Gene LinkOut

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