Human Gene AP1B1 (ENST00000357586.7_12) from GENCODE V47lift37
  Description: adaptor related protein complex 1 subunit beta 1, transcript variant 7 (from RefSeq NM_001378565.1)
Gencode Transcript: ENST00000357586.7_12
Gencode Gene: ENSG00000100280.17_17
Transcript (Including UTRs)
   Position: hg19 chr22:29,723,669-29,784,559 Size: 60,891 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr22:29,724,810-29,763,232 Size: 38,423 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:29,723,669-29,784,559)mRNA (may differ from genome)Protein (949 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AP1B1_HUMAN
DESCRIPTION: RecName: Full=AP-1 complex subunit beta-1; AltName: Full=Adapter-related protein complex 1 subunit beta-1; AltName: Full=Adaptor protein complex AP-1 subunit beta-1; AltName: Full=Beta-1-adaptin; AltName: Full=Beta-adaptin 1; AltName: Full=Clathrin assembly protein complex 1 beta large chain; AltName: Full=Golgi adaptor HA1/AP1 adaptin beta subunit;
FUNCTION: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.
SUBUNIT: Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta- type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3).
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
TISSUE SPECIFICITY: Widely expressed.
SIMILARITY: Belongs to the adaptor complexes large subunit family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AP1B1
Diseases sorted by gene-association score: meningioma, familial (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 51.82 RPKM in Spleen
Total median expression: 1240.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.80174-0.441 Picture PostScript Text
3' UTR -484.001141-0.424 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026739 - AP_beta
IPR016342 - AP_complex_bsu_1_2_4
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR015151 - B-adaptin_app_sub_C
IPR012295 - Beta2_adaptin/TBP_C_dom
IPR002553 - Clathrin/coatomer_adapt-like_N
IPR008152 - Clathrin_a/b/g-adaptin_app_Ig
IPR013037 - Clathrin_b-adaptin_app_Ig-like
IPR009028 - Coatomer/calthrin_app_sub_C
IPR013041 - Coatomer/clathrin_app_Ig-like

Pfam Domains:
PF01602 - Adaptin N terminal region
PF02883 - Adaptin C-terminal domain
PF09066 - Beta2-adaptin appendage, C-terminal sub-domain
PF12717 - non-SMC mitotic condensation complex subunit 1
PF13646 - HEAT repeats

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain
47819 - HRDC-like
49348 - Clathrin adaptor appendage domain
55711 - Subdomain of clathrin and coatomer appendage domain

ModBase Predicted Comparative 3D Structure on Q10567
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0030276 clathrin binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0007368 determination of left/right symmetry
GO:0007507 heart development
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0050690 regulation of defense response to virus by virus

Cellular Component:
GO:0000139 Golgi membrane
GO:0005765 lysosomal membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0030117 membrane coat
GO:0030131 clathrin adaptor complex
GO:0030659 cytoplasmic vesicle membrane
GO:0030665 clathrin-coated vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0032588 trans-Golgi network membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  L13939 - Homo sapiens beta-prime-adaptin (AP1B1) mRNA, complete cds.
BC046242 - Homo sapiens adaptor-related protein complex 1, beta 1 subunit, mRNA (cDNA clone MGC:52262 IMAGE:5929327), complete cds.
CT841508 - Homo sapiens AP1B1 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.AP1B1.V3).
CU012936 - Homo sapiens AP1B1, mRNA (cDNA clone IMAGE:100000572), complete cds, with stop codon, in Gateway system.
CU013224 - Homo sapiens AP1B1, mRNA (cDNA clone IMAGE:100000476), complete cds, without stop codon, in Gateway system.
AB462935 - Synthetic construct DNA, clone: pF1KB4163, Homo sapiens AP1B1 gene for adaptor-related protein complex 1, beta 1 subunit, without stop codon, in Flexi system.
BX537680 - Homo sapiens mRNA; cDNA DKFZp686A01208 (from clone DKFZp686A01208).
AK294406 - Homo sapiens cDNA FLJ56967 complete cds, highly similar to Adapter-relatedprotein complex 1 beta-1 subunit.
JD122221 - Sequence 103245 from Patent EP1572962.
JD423980 - Sequence 405004 from Patent EP1572962.
JD150481 - Sequence 131505 from Patent EP1572962.
JD243730 - Sequence 224754 from Patent EP1572962.
JD409203 - Sequence 390227 from Patent EP1572962.
JD358049 - Sequence 339073 from Patent EP1572962.
JD078094 - Sequence 59118 from Patent EP1572962.
JD443212 - Sequence 424236 from Patent EP1572962.
JD264293 - Sequence 245317 from Patent EP1572962.
JD392641 - Sequence 373665 from Patent EP1572962.
JD222060 - Sequence 203084 from Patent EP1572962.
JD292260 - Sequence 273284 from Patent EP1572962.
JD451420 - Sequence 432444 from Patent EP1572962.
JD247725 - Sequence 228749 from Patent EP1572962.
JD294847 - Sequence 275871 from Patent EP1572962.
JD165625 - Sequence 146649 from Patent EP1572962.
JD500291 - Sequence 481315 from Patent EP1572962.
JD095376 - Sequence 76400 from Patent EP1572962.
JD541690 - Sequence 522714 from Patent EP1572962.
JD355085 - Sequence 336109 from Patent EP1572962.
JD132591 - Sequence 113615 from Patent EP1572962.
JD039147 - Sequence 20171 from Patent EP1572962.
JD502826 - Sequence 483850 from Patent EP1572962.
AK296567 - Homo sapiens cDNA FLJ58495 complete cds, highly similar to Adapter-relatedprotein complex 1 beta-1 subunit.
JD170650 - Sequence 151674 from Patent EP1572962.
JD064860 - Sequence 45884 from Patent EP1572962.
AK299613 - Homo sapiens cDNA FLJ56828 complete cds, highly similar to Adapter-relatedprotein complex 1 beta-1 subunit.
JD498616 - Sequence 479640 from Patent EP1572962.
JD271773 - Sequence 252797 from Patent EP1572962.
JD065168 - Sequence 46192 from Patent EP1572962.
JD544480 - Sequence 525504 from Patent EP1572962.
JD519876 - Sequence 500900 from Patent EP1572962.
JD052526 - Sequence 33550 from Patent EP1572962.
JD369961 - Sequence 350985 from Patent EP1572962.
JD186722 - Sequence 167746 from Patent EP1572962.
JD471926 - Sequence 452950 from Patent EP1572962.
JD115807 - Sequence 96831 from Patent EP1572962.
DL492507 - Novel nucleic acids.
DL490976 - Novel nucleic acids.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q10567 (Reactome details) participates in the following event(s):

R-HSA-182279 Formation of MHC I:Nef:AP-1:PACS-1 Complex
R-HSA-421833 Vamp And trans-Golgi Network AP-1 Binding Coupled With Cargo Capture
R-HSA-432712 Vamp And trans-Golgi Network AP-1 Binding Coupled With Cargo Capture On Lysosome Vesicle Destined Golgi Membrane
R-HSA-421836 trans-Golgi Network Derived Vesicle Uncoating
R-HSA-432688 trans-Golgi Network Derived Lysosomal Vesicle Uncoating
R-HSA-2213236 TGN-lysosome vesicle uncoating and release of nonameric complex to lysosome
R-HSA-182286 Transport of MHC I:Nef:AP-1:PACS-1 Complex
R-HSA-8951498 Dissociation of Arf1:GDP, AP-1 Clathrin coated nonameric complex
R-HSA-421831 trans-Golgi Network Coat Assembly
R-HSA-432706 trans-Golgi Network Lysosome Vesicle Destined Membrane Coat Assembly
R-HSA-421835 trans-Golgi Network Vesicle Scission
R-HSA-432707 trans-Golgi Network Lysosomal Vesicle Scission
R-HSA-2130641 Translocation of TGN-lysosome vesicle to lysosome
R-HSA-5333658 CLAT:AP1:CLVS bind PI(3,5)P2
R-HSA-164940 Nef mediated downregulation of MHC class I complex cell surface expression
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-2132295 MHC class II antigen presentation
R-HSA-164938 Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-1280218 Adaptive Immune System
R-HSA-164952 The role of Nef in HIV-1 replication and disease pathogenesis
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-168256 Immune System
R-HSA-162909 Host Interactions of HIV factors
R-HSA-199991 Membrane Trafficking
R-HSA-162906 HIV Infection
R-HSA-5653656 Vesicle-mediated transport
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ADTB1, AP1B1_HUMAN, BAM22, C9JRD1, CLAPB2, ENST00000357586.1, ENST00000357586.2, ENST00000357586.3, ENST00000357586.4, ENST00000357586.5, ENST00000357586.6, F8WDL0, NM_001378565, P78436, Q10567, Q20WL3, Q86X54, uc318ade.1, uc318ade.2
UCSC ID: ENST00000357586.7_12
RefSeq Accession: NM_001127.4
Protein: Q10567 (aka AP1B1_HUMAN or A1B1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene AP1B1:
idednik (IDEDNIK Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.