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

    Gene ID: 162, updated on 8-Jul-2021

    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
    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
    NEW
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    Genomic context

    See AP1B1 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (29327680..29388570, complement)
    105.20201022 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 growth arrest specific 2 like 1 Neighboring gene RAS like family 10 member A 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of carotid atherosclerosis in HIV-infected men.
    GeneReviews: Not available
    Autosomal recessive keratitis-ichthyosis-deafness syndrome
    MedGen: C1275089 OMIM: 242150 GeneReviews: Not available
    Compare labs
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 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 vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    part_of clathrin adaptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    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 intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001127.4NP_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
      Q10567
      Related
      ENSP00000350199.2, ENST00000357586.7
      Conserved Domains (4) summary
      smart00809
      Location:726826
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:835948
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    2. NM_001166019.2NP_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:716799
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:808918
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    3. NM_001378562.1NP_001365491.1  AP-1 complex subunit beta-1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC002059, KF457400
      Conserved Domains (4) summary
      smart00809
      Location:726826
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:835945
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    4. NM_001378563.1NP_001365492.1  AP-1 complex subunit beta-1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC002059, KF457400
      Conserved Domains (4) summary
      smart00809
      Location:719819
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:828941
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    5. NM_001378564.1NP_001365493.1  AP-1 complex subunit beta-1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC002059, KF457400
      Conserved Domains (4) summary
      smart00809
      Location:669769
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:778888
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:3057
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:1477
      Adaptin_N; Adaptin N terminal region
    6. NM_001378565.1NP_001365494.1  AP-1 complex subunit beta-1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC002059, KF457400
      Conserved Domains (4) summary
      smart00809
      Location:662762
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:771884
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:3057
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:1477
      Adaptin_N; Adaptin N terminal region
    7. NM_001378566.1NP_001365495.1  AP-1 complex subunit beta-1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC002059, KF457400
      Conserved Domains (4) summary
      smart00809
      Location:657757
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:766876
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region
    8. NM_145730.3NP_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:719819
      Alpha_adaptinC2; Adaptin C-terminal domain
      smart01020
      Location:828938
      B2-adapt-app_C; Beta2-adaptin appendage, C-terminal sub-domain
      sd00044
      Location:5175
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:11534
      Adaptin_N; Adaptin N terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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