Details for: AP3S1

Gene ID: 1176

Symbol: AP3S1

Ensembl ID: ENSG00000177879

Description: adaptor related protein complex 3 subunit sigma 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: 395.9620
    Cell Significance Index: -61.5900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 210.6501
    Cell Significance Index: -53.4300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 153.4418
    Cell Significance Index: -63.2100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 143.0349
    Cell Significance Index: -67.5300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 142.5698
    Cell Significance Index: -57.9200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 126.8116
    Cell Significance Index: -65.2300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 100.9058
    Cell Significance Index: -67.7100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 61.1002
    Cell Significance Index: -58.3400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 52.6540
    Cell Significance Index: -64.9200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 19.0715
    Cell Significance Index: -51.0900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 16.7712
    Cell Significance Index: -66.1800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 15.2436
    Cell Significance Index: -46.8200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 12.9947
    Cell Significance Index: -28.4400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 5.8157
    Cell Significance Index: 677.7600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.2010
    Cell Significance Index: 46.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.0731
    Cell Significance Index: 415.8700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.5168
    Cell Significance Index: 70.7200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.4661
    Cell Significance Index: 201.3300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.3222
    Cell Significance Index: 35.9900
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.2505
    Cell Significance Index: 7.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.2452
    Cell Significance Index: 446.6300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.1918
    Cell Significance Index: 140.5500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0687
    Cell Significance Index: 212.0900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0557
    Cell Significance Index: 953.2000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.9599
    Cell Significance Index: 59.0000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.8045
    Cell Significance Index: 9.5900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7860
    Cell Significance Index: 429.2700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7300
    Cell Significance Index: 56.0200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6782
    Cell Significance Index: 299.8400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6502
    Cell Significance Index: 449.6900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6418
    Cell Significance Index: 78.9200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5727
    Cell Significance Index: 56.6500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5453
    Cell Significance Index: 69.9000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5255
    Cell Significance Index: 7.1700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5246
    Cell Significance Index: 94.5600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.4440
    Cell Significance Index: 19.6400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4356
    Cell Significance Index: 11.6300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4241
    Cell Significance Index: 27.3600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4194
    Cell Significance Index: 79.8100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3960
    Cell Significance Index: 13.7600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3820
    Cell Significance Index: 14.4700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3640
    Cell Significance Index: 27.1300
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.2672
    Cell Significance Index: 1.5700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2649
    Cell Significance Index: 34.2200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.2544
    Cell Significance Index: 4.9700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2385
    Cell Significance Index: 16.8700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2218
    Cell Significance Index: 6.3300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1947
    Cell Significance Index: 9.1500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1064
    Cell Significance Index: 18.1700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0842
    Cell Significance Index: 5.6600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0667
    Cell Significance Index: 3.5000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0203
    Cell Significance Index: 0.3400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0180
    Cell Significance Index: 33.8900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0128
    Cell Significance Index: 1.4000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0103
    Cell Significance Index: 0.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0004
    Cell Significance Index: -0.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0089
    Cell Significance Index: -16.3700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0133
    Cell Significance Index: -20.5400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0140
    Cell Significance Index: -0.2400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0145
    Cell Significance Index: -6.5600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0153
    Cell Significance Index: -9.7300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0184
    Cell Significance Index: -13.9000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0224
    Cell Significance Index: -1.4100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0301
    Cell Significance Index: -40.9700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0644
    Cell Significance Index: -6.5800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0653
    Cell Significance Index: -47.8700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0686
    Cell Significance Index: -2.0100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0720
    Cell Significance Index: -4.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0765
    Cell Significance Index: -56.6800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1057
    Cell Significance Index: -4.7900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1120
    Cell Significance Index: -63.1800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1183
    Cell Significance Index: -73.8700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.1599
    Cell Significance Index: -26.0100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1815
    Cell Significance Index: -1.2300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1955
    Cell Significance Index: -10.1900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1959
    Cell Significance Index: -56.3800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2079
    Cell Significance Index: -2.2600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2285
    Cell Significance Index: -5.4800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2674
    Cell Significance Index: -6.8300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2685
    Cell Significance Index: -39.0300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3428
    Cell Significance Index: -9.5800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3488
    Cell Significance Index: -73.4700
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.3615
    Cell Significance Index: -5.4900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4750
    Cell Significance Index: -54.4200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4964
    Cell Significance Index: -14.2300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.5222
    Cell Significance Index: -15.0500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5275
    Cell Significance Index: -16.9000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5289
    Cell Significance Index: -11.5800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5914
    Cell Significance Index: -61.5800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.6491
    Cell Significance Index: -38.9700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.6633
    Cell Significance Index: -12.2600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.7285
    Cell Significance Index: -16.8300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.7399
    Cell Significance Index: -58.6000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.7543
    Cell Significance Index: -19.3900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.9509
    Cell Significance Index: -20.6000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.9821
    Cell Significance Index: -60.2100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.0503
    Cell Significance Index: -30.9400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -1.2044
    Cell Significance Index: -15.4300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -1.2138
    Cell Significance Index: -21.4500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.2370
    Cell Significance Index: -40.5000

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:** AP3S1 is a 78-kDa protein that belongs to the AP-3 adaptor complex, which is composed of three subunits: sigma-1, sigma-2, and mu-2. The sigma-1 subunit, specifically, is a key regulator of membrane trafficking and synaptic function. AP3S1 is highly expressed in various cell types, including pancreatic acinar cells, rod bipolar cells, decidual cells, and GABAergic amacrine cells. Its expression is also significant in the cerebral cortex, where it plays a role in synaptic plasticity and neuronal development. **Pathways and Functions:** AP3S1 is involved in various cellular pathways, including: 1. **Anterograde axonal transport**: AP3S1 regulates the transport of proteins and lipids from the cell body to the axon terminals, a critical process for neurotransmitter release and synaptic function. 2. **Anterograde synaptic vesicle transport**: AP3S1 interacts with clathrin and other proteins to coat synaptic vesicles, facilitating their transport to the synapse. 3. **Ap-3 mediated membrane coat adaptor complex**: AP3S1 forms a complex with other AP-3 subunits to regulate membrane trafficking and protein transport. 4. **Intracellular protein transport**: AP3S1 is involved in the transport of proteins between the Golgi apparatus and the plasma membrane, ensuring proper protein localization and function. **Clinical Significance:** Dysregulation of AP3S1 has been implicated in various neurological and psychiatric disorders, including: 1. **Neurodegenerative diseases**: AP3S1 mutations have been associated with Alzheimer's disease, Parkinson's disease, and frontotemporal dementia. 2. **Synaptic dysfunction**: AP3S1 dysregulation has been linked to synaptic dysfunction and impaired neurotransmitter release in conditions such as depression and anxiety disorders. 3. **Cerebral cortex development**: AP3S1 is essential for proper cerebral cortex development and function, highlighting its role in neurological disorders such as autism spectrum disorder. In conclusion, AP3S1 is a critical regulator of membrane trafficking and synaptic function, with significant implications in various cellular processes and diseases. Further research is needed to fully elucidate the role of AP3S1 in human health and disease, and to explore potential therapeutic strategies targeting this protein.

Genular Protein ID: 581609420

Symbol: AP3S1_HUMAN

Name: AP-3 complex subunit sigma-1

UniProtKB Accession Codes:

Q92572 O00647 O00676 O00721 O00727 Q53XL4 Q6ICQ2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 2 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 6 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8697810

Title: Cloning, expression pattern and mapping to 12p 13.2 --> p13.1 of CLAPS3, a gene encoding a novel clathrin-adaptor small chain.

PubMed ID: 8697810

DOI: 10.1159/000134341

PubMed ID: 9151686

Title: Characterization of the adaptor-related protein complex, AP-3.

PubMed ID: 9151686

DOI: 10.1083/jcb.137.4.835

PubMed ID: 9118953

Title: AP-3: an adaptor-like protein complex with ubiquitous expression.

PubMed ID: 9118953

DOI: 10.1093/emboj/16.5.917

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

Sequence Information:

  • Length: 193
  • Mass: 21732
  • Checksum: 1EF17F375881288D
  • Sequence:
    • MIKAILIFNN HGKPRLSKFY QPYSEDTQQQ IIRETFHLVS KRDENVCNFL EGGLLIGGSD 
NKLIYRHYAT LYFVFCVDSS ESELGILDLI QVFVETLDKC FENVCELDLI FHVDKVHNIL 
AEMVMGGMVL ETNMNEIVTQ IDAQNKLEKS EAGLAGAPAR AVSAVKNMNL PEIPRNINIG 
DISIKVPNLP SFK

Genular Protein ID: 2777174227

Symbol: F5H459_HUMAN

Name: N/A

UniProtKB Accession Codes:

F5H459

Database IDs:

ARBA 5 AlphaFoldDB 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 HGNC 1 InterPro 5 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PROSITE 1 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

Sequence Information:

  • Length: 162
  • Mass: 18772
  • Checksum: 4D6F1BC6FBB38176
  • Sequence:
    • MIKAILIFNN HGKPRLSKFY QPYSEDTQQQ IIRETFHLVS KRDENVCNFL EGGLLIGGSD 
NKLIYRHYAT LYFVFCVDSS ESELGILDLI QVFVETLDKC FENVCELDLI FHVDKVHNIL 
AEMVMGGMVL ETNMNEIVTQ IDAQNKLEKS ETFIFQSPRQ DR

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.