Details for: AMPH

Gene ID: 273

Symbol: AMPH

Ensembl ID: ENSG00000078053

Description: amphiphysin

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 135.4658
    Cell Significance Index: -34.3600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 3.6066
    Cell Significance Index: 102.9200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.8194
    Cell Significance Index: 565.5600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 2.7893
    Cell Significance Index: 47.8000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.7318
    Cell Significance Index: 979.8600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 2.5973
    Cell Significance Index: 20.0200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.3487
    Cell Significance Index: 148.0300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.9707
    Cell Significance Index: 132.5100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.6282
    Cell Significance Index: 21.7200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.6172
    Cell Significance Index: 35.4100
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 1.3517
    Cell Significance Index: 17.5300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.2538
    Cell Significance Index: 867.1600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.2519
    Cell Significance Index: 70.2500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.2374
    Cell Significance Index: 56.0900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.1674
    Cell Significance Index: 7.9100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.9744
    Cell Significance Index: 51.1600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.9278
    Cell Significance Index: 11.0600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7727
    Cell Significance Index: 147.0500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.7445
    Cell Significance Index: 45.7600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6321
    Cell Significance Index: 62.5300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6135
    Cell Significance Index: 553.9300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.5279
    Cell Significance Index: 12.6600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.4093
    Cell Significance Index: 59.4900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.4058
    Cell Significance Index: 7.9200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3785
    Cell Significance Index: 16.7400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3673
    Cell Significance Index: 13.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.2340
    Cell Significance Index: 24.3700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1922
    Cell Significance Index: 361.9300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1594
    Cell Significance Index: 20.4300
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.1566
    Cell Significance Index: 1.4900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1509
    Cell Significance Index: 24.5400
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.1248
    Cell Significance Index: 1.3000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0792
    Cell Significance Index: 107.6400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.0678
    Cell Significance Index: 1.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0548
    Cell Significance Index: 84.4400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0386
    Cell Significance Index: 71.1700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0061
    Cell Significance Index: 0.6700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0046
    Cell Significance Index: 0.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0014
    Cell Significance Index: -0.0400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0036
    Cell Significance Index: -0.2200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0037
    Cell Significance Index: -0.0400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0130
    Cell Significance Index: -8.1100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0187
    Cell Significance Index: -13.8800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0220
    Cell Significance Index: -0.5500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0226
    Cell Significance Index: -14.3400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0276
    Cell Significance Index: -12.5100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0329
    Cell Significance Index: -0.6500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0345
    Cell Significance Index: -19.4400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0356
    Cell Significance Index: -26.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0495
    Cell Significance Index: -27.0200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0718
    Cell Significance Index: -15.1200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0945
    Cell Significance Index: -27.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1027
    Cell Significance Index: -17.5400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1250
    Cell Significance Index: -2.7000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1284
    Cell Significance Index: -4.2100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1370
    Cell Significance Index: -2.7500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1457
    Cell Significance Index: -26.2700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1608
    Cell Significance Index: -5.1200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1652
    Cell Significance Index: -22.6900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1707
    Cell Significance Index: -33.8800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1736
    Cell Significance Index: -2.1700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1781
    Cell Significance Index: -2.5500
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.2161
    Cell Significance Index: -2.6200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2244
    Cell Significance Index: -27.5900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2285
    Cell Significance Index: -15.8000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2581
    Cell Significance Index: -33.3500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2926
    Cell Significance Index: -6.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2965
    Cell Significance Index: -34.5500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3025
    Cell Significance Index: -34.5300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3135
    Cell Significance Index: -32.0200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3200
    Cell Significance Index: -36.6700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3224
    Cell Significance Index: -24.7400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3370
    Cell Significance Index: -4.1800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3547
    Cell Significance Index: -28.0900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3760
    Cell Significance Index: -5.4000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3864
    Cell Significance Index: -28.8000
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3985
    Cell Significance Index: -5.0300
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.4549
    Cell Significance Index: -5.7400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.4658
    Cell Significance Index: -4.4200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.4795
    Cell Significance Index: -20.8500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.4844
    Cell Significance Index: -10.3600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4921
    Cell Significance Index: -15.7600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.5006
    Cell Significance Index: -5.8400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5067
    Cell Significance Index: -17.7500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.5217
    Cell Significance Index: -27.1000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.5293
    Cell Significance Index: -11.4700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5324
    Cell Significance Index: -13.2800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5442
    Cell Significance Index: -35.1100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.5452
    Cell Significance Index: -11.3100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.5477
    Cell Significance Index: -32.8800
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.5494
    Cell Significance Index: -6.5700
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.5543
    Cell Significance Index: -6.8900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.5630
    Cell Significance Index: -8.5500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5672
    Cell Significance Index: -29.5500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.5901
    Cell Significance Index: -16.4900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5957
    Cell Significance Index: -20.7000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6444
    Cell Significance Index: -13.4500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.6699
    Cell Significance Index: -31.4900
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.6977
    Cell Significance Index: -5.9300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.7279
    Cell Significance Index: -33.9400

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** Amphiphysin is a member of the dynamin family of proteins, characterized by its ability to bind to phospholipids and regulate membrane trafficking. The protein is composed of three domains: the GTPase domain, the amphiphysin domain, and the SH3 domain. Amphiphysin's unique structure allows it to interact with various proteins, including synaptotagmin, synapsin, and clathrin, thereby regulating synaptic vesicle endocytosis and exocytosis. **Pathways and Functions** Amphiphysin is involved in several key pathways, including: 1. **Actin cytoskeleton regulation**: Amphiphysin interacts with actin-binding proteins, such as profilin, to regulate cytoskeletal dynamics and maintain synaptic plasticity. 2. **Synaptic vesicle endocytosis**: Amphiphysin is a key component of the clathrin-mediated endocytosis pathway, regulating the internalization of synaptic vesicles and modulating neurotransmitter release. 3. **Membrane trafficking**: Amphiphysin interacts with other proteins, such as synaptotagmin and synapsin, to regulate membrane trafficking and synaptic vesicle fusion. 4. **Neurodevelopmental disorders**: Amphiphysin has been implicated in neurodevelopmental disorders, including autism spectrum disorder and schizophrenia, where aberrant synaptic plasticity and neurotransmission are thought to contribute to disease pathology. **Clinical Significance** Amphiphysin's dysregulation has been linked to various neurodevelopmental disorders, including: 1. **Autism spectrum disorder**: Studies have shown that amphiphysin expression is altered in individuals with autism spectrum disorder, suggesting a potential role in the disorder's pathophysiology. 2. **Schizophrenia**: Amphiphysin has been implicated in schizophrenia, where aberrant synaptic plasticity and neurotransmission are thought to contribute to disease pathology. 3. **Neurodegenerative diseases**: Amphiphysin's role in regulating synaptic plasticity and membrane trafficking suggests that its dysregulation may contribute to neurodegenerative diseases, such as Alzheimer's and Parkinson's. In conclusion, amphiphysin is a complex protein involved in regulating synaptic vesicle dynamics, endocytosis, and neuronal development. Its dysregulation has been linked to various neurodevelopmental disorders, highlighting the importance of further research into the protein's role in human disease.

Genular Protein ID: 795152277

Symbol: AMPH_HUMAN

Name: Amphiphysin

UniProtKB Accession Codes:

P49418 A4D1X8 A4D1X9 O43538 Q75MJ8 Q75MK5 Q75MM3 Q8N4G0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 11 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 1 PRINTS 3 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8076697

Title: Autoimmunity in stiff-man syndrome with breast cancer is targeted to the C-terminal region of human amphiphysin, a protein similar to the yeast proteins, Rvs167 and Rvs161.

PubMed ID: 8076697

DOI: 10.1016/0014-5793(94)00826-4

PubMed ID: 7757077

Title: Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14.

PubMed ID: 7757077

DOI: 10.1093/hmg/4.2.265

PubMed ID: 9513187

Title: Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer.

PubMed ID: 9513187

DOI: 10.1007/bf03401727

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

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: 16903783

Title: Role of the AP2 beta-appendage hub in recruiting partners for clathrin-coated vesicle assembly.

PubMed ID: 16903783

DOI: 10.1371/journal.pbio.0040262

PubMed ID: 20946875

Title: Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits.

PubMed ID: 20946875

DOI: 10.1016/j.bbrc.2010.10.045

PubMed ID: 12057195

Title: Accessory protein recruitment motifs in clathrin-mediated endocytosis.

PubMed ID: 12057195

DOI: 10.1016/s0969-2126(02)00784-0

Sequence Information:

  • Length: 695
  • Mass: 76257
  • Checksum: 78B4F75AB75BA357
  • Sequence:
    • MADIKTGIFA KNVQKRLNRA QEKVLQKLGK ADETKDEQFE EYVQNFKRQE AEGTRLQREL 
RGYLAAIKGM QEASMKLTES LHEVYEPDWY GREDVKMVGE KCDVLWEDFH QKLVDGSLLT 
LDTYLGQFPD IKNRIAKRSR KLVDYDSARH HLEALQSSKR KDESRISKAE EEFQKAQKVF 
EEFNVDLQEE LPSLWSRRVG FYVNTFKNVS SLEAKFHKEI AVLCHKLYEV MTKLGDQHAD 
KAFTIQGAPS DSGPLRIAKT PSPPEEPSPL PSPTASPNHT LAPASPAPAR PRSPSQTRKG 
PPVPPLPKVT PTKELQQENI ISFFEDNFVP EISVTTPSQN EVPEVKKEET LLDLDFDPFK 
PEVTPAGSAG VTHSPMSQTL PWDLWTTSTD LVQPASGGSF NGFTQPQDTS LFTMQTDQSM 
ICNLAESEQA PPTEPKAEEP LAAVTPAVGL DLGMDTRAEE PVEEAVIIPG ADADAAVGTL 
VSAAEGAPGE EAEAEKATVP AGEGVSLEEA KIGTETTEGA ESAQPEAEEL EATVPQEKVI 
PSVVIEPASN HEEEGENEIT IGAEPKETTE DAAPPGPTSE TPELATEQKP IQDPQPTPSA 
PAMGAADQLA SAREASQELP PGFLYKVETL HDFEAANSDE LTLQRGDVVL VVPSDSEADQ 
DAGWLVGVKE SDWLQYRDLA TYKGLFPENF TRRLD

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.