Details for: AP4S1

Gene ID: 11154

Symbol: AP4S1

Ensembl ID: ENSG00000100478

Description: adaptor related protein complex 4 subunit sigma 1

Associated with

Cells (max top 100)

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

  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.65
    Marker Score: 32,863
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.61
    Marker Score: 99,091
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.57
    Marker Score: 59,747
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.57
    Marker Score: 58,006
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.56
    Marker Score: 14,828
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.55
    Marker Score: 14,554
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.55
    Marker Score: 6,292
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.52
    Marker Score: 888
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.51
    Marker Score: 12,961
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169,023
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.46
    Marker Score: 21,817
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.44
    Marker Score: 1,322
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.44
    Marker Score: 5,965
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.4
    Marker Score: 10,756
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4
    Marker Score: 5,409
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.36
    Marker Score: 1,648
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.32
    Marker Score: 2,041
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.2
    Marker Score: 1,614
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.17
    Marker Score: 2,753
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 1.16
    Marker Score: 414
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.15
    Marker Score: 2,348
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.04
    Marker Score: 4,346
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.03
    Marker Score: 16,171
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,763
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,988
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,402
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.97
    Marker Score: 20,784
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 485
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.94
    Marker Score: 2,055
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 440
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,723
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5,035
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,262
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.86
    Marker Score: 950
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.82
    Marker Score: 8,431
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.8
    Marker Score: 349
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,262
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.77
    Marker Score: 4,636
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.77
    Marker Score: 26,040
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.75
    Marker Score: 236
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.74
    Marker Score: 239
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.73
    Marker Score: 557
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 377
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3,042
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 289
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.72
    Marker Score: 3,324
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.7
    Marker Score: 220
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.69
    Marker Score: 203
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.69
    Marker Score: 1,198
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.68
    Marker Score: 337
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 615
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.64
    Marker Score: 382
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.62
    Marker Score: 195
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.61
    Marker Score: 1,736
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.59
    Marker Score: 269
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.59
    Marker Score: 350
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.59
    Marker Score: 725
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.57
    Marker Score: 271
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.56
    Marker Score: 673
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.55
    Marker Score: 597
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 437
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.55
    Marker Score: 202
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.54
    Marker Score: 911
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.54
    Marker Score: 623
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.54
    Marker Score: 467
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.51
    Marker Score: 496
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.51
    Marker Score: 212
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.5
    Marker Score: 1,198
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.49
    Marker Score: 316
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.49
    Marker Score: 142
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.49
    Marker Score: 2,625
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.48
    Marker Score: 925
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.48
    Marker Score: 163
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.47
    Marker Score: 275
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.47
    Marker Score: 191
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.47
    Marker Score: 552
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.47
    Marker Score: 122
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.46
    Marker Score: 240
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.46
    Marker Score: 228
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.45
    Marker Score: 448
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.45
    Marker Score: 143
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.44
    Marker Score: 1,569
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.44
    Marker Score: 295
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.43
    Marker Score: 874
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.43
    Marker Score: 156
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.43
    Marker Score: 283
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.4
    Marker Score: 139
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.4
    Marker Score: 166
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.39
    Marker Score: 408
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.39
    Marker Score: 336
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.39
    Marker Score: 220
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.39
    Marker Score: 8,611
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.38
    Marker Score: 170
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.38
    Marker Score: 1,413
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.38
    Marker Score: 236
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.38
    Marker Score: 362
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.37
    Marker Score: 284

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** AP4S1 is a subunit of the AP-4 adaptor complex, which is a heterotetrameric protein complex consisting of three different subunits (σ1, σ2, and σ3). AP4S1 is specifically involved in the regulation of protein localization, targeting, and transport within the cell. Its unique structure and function allow it to interact with various proteins, facilitating the sorting and delivery of molecules to specific compartments within the cell. **Pathways and Functions:** AP4S1 is involved in several cellular pathways, including: 1. **Membrane trafficking:** AP4S1 regulates the sorting and delivery of proteins to the Golgi apparatus, endosomes, and lysosomes. 2. **Protein localization:** AP4S1 ensures the correct localization of proteins to specific compartments within the cell, such as the trans-Golgi network and lysosomes. 3. **Vesicle-mediated transport:** AP4S1 is involved in the formation and transport of vesicles containing proteins and lipids. 4. **Protein targeting:** AP4S1 regulates the targeting of proteins to specific compartments within the cell, ensuring proper protein function and cell signaling. **Clinical Significance:** AP4S1 has been implicated in various neurological and immunological disorders, including: 1. **Neurological disorders:** AP4S1 has been linked to neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease, where disruptions in protein trafficking and localization can contribute to disease progression. 2. **Immunological disorders:** AP4S1 may play a role in autoimmune diseases, such as multiple sclerosis, where dysregulation of protein trafficking and localization can contribute to immune cell dysfunction. 3. **Cancer:** AP4S1 has been implicated in cancer progression, where disruptions in protein trafficking and localization can contribute to tumor growth and metastasis. In conclusion, AP4S1 is a vital component of the AP-4 adaptor complex, playing a critical role in regulating protein localization, targeting, and transport within the cell. Its dysregulation has been implicated in various neurological and immunological disorders, highlighting the importance of further research into the immunological significance of AP4S1.

Genular Protein ID: 3936432598

Symbol: AP4S1_HUMAN

Name: AP-4 adaptor complex subunit sigma-1

UniProtKB Accession Codes:

Q9Y587 G3V2N8 Q6IAQ4 Q86U36 Q9BVE7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 13 EPD 1 Ensembl 6 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 1 RefSeq 9 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10436028

Title: Characterization of a fourth adaptor-related protein complex.

PubMed ID: 10436028

DOI: 10.1091/mbc.10.8.2787

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

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: 10066790

Title: AP-4, a novel protein complex related to clathrin adaptors.

PubMed ID: 10066790

DOI: 10.1074/jbc.274.11.7278

PubMed ID: 21620353

Title: Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PubMed ID: 21620353

DOI: 10.1016/j.ajhg.2011.04.019

Sequence Information:

  • Length: 144
  • Mass: 17005
  • Checksum: 0B620AFBB3B7F8A1
  • Sequence:
    • MIKFFLMVNK QGQTRLSKYY EHVDINKRTL LETEVIKSCL SRSNEQCSFI EYKDFKLIYR 
QYAALFIVVG VNDTENEMAI YEFIHNFVEV LDEYFSRVSE LDIMFNLDKV HIILDEMVLN 
GCIVETNRAR ILAPLLILDK MSES

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.