Details for: AP1B1

Gene ID: 162

Symbol: AP1B1

Ensembl ID: ENSG00000100280

Description: adaptor related protein complex 1 subunit beta 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 196.5988
    Cell Significance Index: -30.5800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 133.6916
    Cell Significance Index: -33.9100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 79.9792
    Cell Significance Index: -37.7600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 78.3002
    Cell Significance Index: -31.8100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 69.9379
    Cell Significance Index: -35.9800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 33.4802
    Cell Significance Index: -31.9700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 28.6872
    Cell Significance Index: -35.3700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.9529
    Cell Significance Index: -30.5700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.1737
    Cell Significance Index: -36.2000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.0822
    Cell Significance Index: -15.5000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.9305
    Cell Significance Index: 313.9700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.5404
    Cell Significance Index: 14.1900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.1470
    Cell Significance Index: 124.7600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.1423
    Cell Significance Index: 790.0400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1015
    Cell Significance Index: 198.5700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0830
    Cell Significance Index: 56.2600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0111
    Cell Significance Index: 60.7000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9223
    Cell Significance Index: 185.0200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7646
    Cell Significance Index: 690.4200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.7572
    Cell Significance Index: 93.1000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.7321
    Cell Significance Index: 20.4600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7016
    Cell Significance Index: 20.2200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.6270
    Cell Significance Index: 73.9500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5890
    Cell Significance Index: 116.8800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4984
    Cell Significance Index: 178.7700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4404
    Cell Significance Index: 11.7600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3878
    Cell Significance Index: 18.0800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3273
    Cell Significance Index: 7.0900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3144
    Cell Significance Index: 19.8200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2793
    Cell Significance Index: 152.5100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2761
    Cell Significance Index: 17.8200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2730
    Cell Significance Index: 18.8800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2716
    Cell Significance Index: 12.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2108
    Cell Significance Index: 16.1800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1725
    Cell Significance Index: 32.8200
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1719
    Cell Significance Index: 2.6600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1465
    Cell Significance Index: 64.7700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1460
    Cell Significance Index: 5.5300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1350
    Cell Significance Index: 5.9700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1211
    Cell Significance Index: 20.6900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0945
    Cell Significance Index: 4.4400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0710
    Cell Significance Index: 1.7800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0654
    Cell Significance Index: 0.7800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0478
    Cell Significance Index: 1.2800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0289
    Cell Significance Index: 3.7400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0270
    Cell Significance Index: 49.8800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0168
    Cell Significance Index: 25.8200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0158
    Cell Significance Index: 29.8300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0041
    Cell Significance Index: 0.4100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0045
    Cell Significance Index: -2.8700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0079
    Cell Significance Index: -10.8000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0231
    Cell Significance Index: -2.3600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0232
    Cell Significance Index: -17.1900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0236
    Cell Significance Index: -17.9000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0259
    Cell Significance Index: -1.3500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0275
    Cell Significance Index: -20.1600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0286
    Cell Significance Index: -17.8600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0316
    Cell Significance Index: -14.3300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0325
    Cell Significance Index: -4.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0351
    Cell Significance Index: -19.7700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0409
    Cell Significance Index: -0.8700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0496
    Cell Significance Index: -0.8500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0549
    Cell Significance Index: -3.8800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0602
    Cell Significance Index: -1.6100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0700
    Cell Significance Index: -8.9700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0836
    Cell Significance Index: -12.1500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1062
    Cell Significance Index: -30.5600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1109
    Cell Significance Index: -2.0500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1110
    Cell Significance Index: -23.3800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1166
    Cell Significance Index: -7.8400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1306
    Cell Significance Index: -15.2200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1589
    Cell Significance Index: -18.2100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1807
    Cell Significance Index: -11.1100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1877
    Cell Significance Index: -13.9900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1880
    Cell Significance Index: -9.8700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2258
    Cell Significance Index: -12.6700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3050
    Cell Significance Index: -4.5700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3197
    Cell Significance Index: -36.4900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3237
    Cell Significance Index: -33.7100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3915
    Cell Significance Index: -31.0100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3929
    Cell Significance Index: -5.3600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4222
    Cell Significance Index: -12.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4868
    Cell Significance Index: -15.5900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5244
    Cell Significance Index: -11.1300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5323
    Cell Significance Index: -15.1900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5394
    Cell Significance Index: -33.0700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5491
    Cell Significance Index: -19.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5497
    Cell Significance Index: -14.1300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.6341
    Cell Significance Index: -17.2600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.7234
    Cell Significance Index: -10.3600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7391
    Cell Significance Index: -23.5400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7413
    Cell Significance Index: -24.2700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.7787
    Cell Significance Index: -17.0500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.8032
    Cell Significance Index: -20.5200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.8085
    Cell Significance Index: -21.2600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.8127
    Cell Significance Index: -28.4700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.8573
    Cell Significance Index: -31.4700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.8602
    Cell Significance Index: -20.6300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.8625
    Cell Significance Index: -12.7300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.8987
    Cell Significance Index: -26.4700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** AP1B1 is a small, cytoplasmic protein that belongs to the adaptor protein complex 1 (AP-1) family. It is characterized by its ability to bind to clathrin and other adaptors, facilitating the formation of clathrin-coated vesicles. AP1B1 is also known to interact with a wide range of proteins, including those involved in immune response, cell signaling, and membrane trafficking. The protein is highly conserved across species, suggesting its evolutionary importance. **Pathways and Functions:** AP1B1 is involved in several key pathways, including: 1. **Membrane Trafficking:** AP1B1 plays a critical role in the formation and function of clathrin-coated vesicles, which are essential for endocytosis, exocytosis, and intracellular protein transport. 2. **Immune Response:** AP1B1 is highly expressed in immune cells, including myeloid leukocytes and macrophages, and is involved in the regulation of immune response, including antigen presentation and cytokine production. 3. **Viral Infection Pathways:** AP1B1 has been implicated in the regulation of HIV-1 replication and disease pathogenesis, suggesting its role in viral infection pathways. 4. **Neuroprotection:** AP1B1 is also involved in the regulation of neuroprotection, including the transport of proteins involved in neuronal function and survival. **Clinical Significance:** AP1B1 has significant clinical implications, particularly in the context of HIV-1 infection and disease pathogenesis. Recent studies have highlighted the importance of AP1B1 in regulating HIV-1 replication and disease progression. Additionally, AP1B1's role in immune response and neuroprotection suggests its potential as a therapeutic target in various diseases, including autoimmune disorders and neurodegenerative diseases. In conclusion, AP1B1 is a key regulator of membrane trafficking and immune response, with significant implications for our understanding of HIV-1 infection and disease pathogenesis. Further research is needed to fully elucidate the functions and clinical significance of AP1B1, but its importance in immune cell function and neuroprotection is already clear.

Genular Protein ID: 4288349243

Symbol: AP1B1_HUMAN

Name: AP-1 complex subunit beta-1

UniProtKB Accession Codes:

Q10567 C9JRD1 F8WDL0 P78436 Q20WL3 Q86X54

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CPTAC 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 4 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 27 EMDB 10 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 19 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 12 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 20 PDBsum 20 PIR 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 4 RefSeq 3 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7987321

Title: Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.

PubMed ID: 7987321

DOI: 10.1093/hmg/3.8.1393

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8812422

Title: Structure of the promoter and genomic organization of the human beta'-adaptin gene (BAM22) from chromosome 22q12.

PubMed ID: 8812422

DOI: 10.1006/geno.1996.0431

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 31630791

Title: Homozygous loss-of-function mutations in AP1B1, encoding beta-1 subunit of adaptor-related protein complex 1, cause MEDNIK-like syndrome.

PubMed ID: 31630791

DOI: 10.1016/j.ajhg.2019.09.020

PubMed ID: 31630788

Title: Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia.

PubMed ID: 31630788

DOI: 10.1016/j.ajhg.2019.09.021

Sequence Information:

  • Length: 949
  • Mass: 104607
  • Checksum: 0B010DD2F29B248E
  • Sequence:
    • MTDSKYFTTT KKGEIFELKA ELNSDKKEKK KEAVKKVIAS MTVGKDVSAL FPDVVNCMQT 
DNLELKKLVY LYLMNYAKSQ PDMAIMAVNT FVKDCEDPNP LIRALAVRTM GCIRVDKITE 
YLCEPLRKCL KDEDPYVRKT AAVCVAKLHD INAQLVEDQG FLDTLKDLIS DSNPMVVANA 
VAALSEIAES HPSSNLLDLN PQSINKLLTA LNECTEWGQI FILDCLANYM PKDDREAQSI 
CERVTPRLSH ANSAVVLSAV KVLMKFMEML SKDLDYYGTL LKKLAPPLVT LLSAEPELQY 
VALRNINLIV QKRPEILKHE MKVFFVKYND PIYVKLEKLD IMIRLASQAN IAQVLAELKE 
YATEVDVDFV RKAVRAIGRC AIKVEQSAER CVSTLLDLIQ TKVNYVVQEA IVVIKDIFRK 
YPNKYESVIA TLCENLDSLD EPEARAAMIW IVGEYAERID NADELLESFL EGFHDESTQV 
QLQLLTAIVK LFLKKPTETQ ELVQQVLSLA TQDSDNPDLR DRGYIYWRLL STDPVAAKEV 
VLAEKPLISE ETDLIEPTLL DELICYIGTL ASVYHKPPSA FVEGGRGVVH KSLPPRTASS 
ESAESPETAP TGAPPGEQPD VIPAQGDLLG DLLNLDLGPP VSGPPLATSS VQMGAVDLLG 
GGLDSLMGDE PEGIGGTNFV APPTAAVPAN LGAPIGSGLS DLFDLTSGVG TLSGSYVAPK 
AVWLPAMKAK GLEISGTFTR QVGSISMDLQ LTNKALQVMT DFAIQFNRNS FGLAPAAPLQ 
VHAPLSPNQT VEISLPLSTV GSVMKMEPLN NLQVAVKNNI DVFYFSTLYP LHILFVEDGK 
MDRQMFLATW KDIPNENEAQ FQIRDCPLNA EAASSKLQSS NIFTVAKRNV EGQDMLYQSL 
KLTNGIWVLA ELRIQPGNPS CTDLELSLKC RAPEVSQHVY QAYETILKN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.