Details for: FRRS1L

Gene ID: 23732

Symbol: FRRS1L

Ensembl ID: ENSG00000260230

Description: ferric chelate reductase 1 like

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: Purkinje cell (CL0000121)
    Fold Change: 3.11
    Marker Score: 105,022
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 3.01
    Marker Score: 16,161
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 2.57
    Marker Score: 5,902
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.51
    Marker Score: 11,605
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.41
    Marker Score: 91,708
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.39
    Marker Score: 47,477
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.39
    Marker Score: 35,681
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.37
    Marker Score: 18,199
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.17
    Marker Score: 8,396
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.13
    Marker Score: 78,437
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.08
    Marker Score: 8,606
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.06
    Marker Score: 19,372
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.99
    Marker Score: 122,406
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.95
    Marker Score: 7,937
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.95
    Marker Score: 14,689
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.91
    Marker Score: 19,716
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.87
    Marker Score: 17,782
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.84
    Marker Score: 15,836
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.82
    Marker Score: 763
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.7
    Marker Score: 4,839
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.68
    Marker Score: 532
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.63
    Marker Score: 2,510
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.56
    Marker Score: 2,612
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.49
    Marker Score: 3,037
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.49
    Marker Score: 7,793
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.43
    Marker Score: 4,790
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.41
    Marker Score: 384
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.32
    Marker Score: 2,497
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.3
    Marker Score: 5,415
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.28
    Marker Score: 929
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.18
    Marker Score: 390
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.18
    Marker Score: 18,437
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.11
    Marker Score: 1,047
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.1
    Marker Score: 1,332
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.09
    Marker Score: 418
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.05
    Marker Score: 669
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 797
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,822
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,047
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.94
    Marker Score: 1,171
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,349
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,740
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.89
    Marker Score: 1,259
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.89
    Marker Score: 467
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.89
    Marker Score: 1,804
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.89
    Marker Score: 1,070
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.87
    Marker Score: 293
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.87
    Marker Score: 3,644
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.8
    Marker Score: 3,366
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.79
    Marker Score: 460
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 316
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.79
    Marker Score: 239
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,263
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 708
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.76
    Marker Score: 701
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.71
    Marker Score: 426
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.7
    Marker Score: 866
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.68
    Marker Score: 381
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.67
    Marker Score: 751
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.66
    Marker Score: 756
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.65
    Marker Score: 150
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.62
    Marker Score: 276
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.59
    Marker Score: 1,417
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.57
    Marker Score: 1,257
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.57
    Marker Score: 363
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.53
    Marker Score: 5,339
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.52
    Marker Score: 9,207
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.52
    Marker Score: 247
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.51
    Marker Score: 10,932
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.49
    Marker Score: 489
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.49
    Marker Score: 155
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.49
    Marker Score: 258
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.45
    Marker Score: 217
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.45
    Marker Score: 101
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.44
    Marker Score: 911
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.43
    Marker Score: 178
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.43
    Marker Score: 4,336
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.41
    Marker Score: 182
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.37
    Marker Score: 403
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.37
    Marker Score: 105
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.36
    Marker Score: 2,364
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.36
    Marker Score: 216
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.36
    Marker Score: 237
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.36
    Marker Score: 309
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.35
    Marker Score: 175
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.35
    Marker Score: 298
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.34
    Marker Score: 99
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.34
    Marker Score: 324
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.34
    Marker Score: 162
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.33
    Marker Score: 97
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.33
    Marker Score: 220

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:** 1. **Ferric Chelate Reductase Activity**: FRRS1L exhibits ferric chelate reductase activity, suggesting its role in the reduction of ferric ions, which can have neurotoxic effects. 2. **DOMON Domain**: The DOMON domain is a unique structural motif present in FRRS1L, which is thought to be involved in protein-protein interactions and binding to specific cellular targets. 3. **Regulation of Glutamate Receptor Signaling**: FRRS1L modulates the clustering and signaling of AMPA glutamate receptors, which are essential for excitatory neurotransmission. 4. **Involvement in Synaptic Transmission**: FRRS1L is implicated in the regulation of postsynaptic membrane neurotransmitter receptor levels, influencing the balance of excitatory and inhibitory neurotransmission. **Pathways and Functions:** 1. **Regulation of AMPA Glutamate Receptor Clustering**: FRRS1L interacts with AMPA receptors, promoting their clustering and enhancing excitatory neurotransmission. 2. **Regulation of Postsynaptic Membrane Neurotransmitter Receptor Levels**: FRRS1L modulates the expression and localization of neurotransmitter receptors, influencing the balance of excitatory and inhibitory neurotransmission. 3. **Regulation of Synaptic Transmission**: FRRS1L's activities in regulating AMPA receptor clustering and postsynaptic receptor levels contribute to the modulation of synaptic transmission. 4. **Regulation of Glutamate Receptor Signaling Pathway**: FRRS1L interacts with other components of the glutamate receptor signaling pathway, influencing the overall excitatory/inhibitory balance. **Clinical Significance:** Dysregulation of FRRS1L has been implicated in various neurological disorders, including: 1. **Neurodegenerative diseases**: Altered FRRS1L expression and activity have been linked to neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 2. **Neurodevelopmental disorders**: Abnormal FRRS1L function has been implicated in neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 3. **Stroke and traumatic brain injury**: FRRS1L's role in regulating synaptic transmission and glutamate receptor signaling may contribute to the pathophysiology of stroke and traumatic brain injury. In conclusion, FRRS1L is a critical gene that regulates synaptic transmission and glutamate receptor signaling, with significant implications for our understanding of neurological disorders. Further research is necessary to elucidate the mechanisms by which FRRS1L contributes to disease pathology and to identify potential therapeutic targets for the treatment of these disorders.

Genular Protein ID: 615552224

Symbol: FRS1L_HUMAN

Name: DOMON domain-containing protein FRRS1L

UniProtKB Accession Codes:

Q9P0K9 Q5T4G4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 1 ExpressionAtlas 1 GO 8 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SAM 1 SMART 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10603000

Title: Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31.

PubMed ID: 10603000

DOI: 10.1007/s003350010017

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 27236917

Title: Loss-of-function mutations in FRRS1L lead to an epileptic-dyskinetic encephalopathy.

PubMed ID: 27236917

DOI: 10.1016/j.ajhg.2016.04.008

PubMed ID: 27239025

Title: Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.

PubMed ID: 27239025

DOI: 10.1111/cge.12796

Sequence Information:

  • Length: 293
  • Mass: 32389
  • Checksum: D3E293757648EEDB
  • Sequence:
    • MARPPRQHPG VWASLLLLLL TGPAACAASP ADDGAGPGGR GPRGRARGDT GADEAVPRHD 
SSYGTFAGEF YDLRYLSEEG YPFPTAPPVD PFAKIKVDDC GKTKGCFRYG KPGCNAETCD 
YFLSYRMIGA DVEFELSADT DGWVAVGFSS DKKMGGDDVM ACVHDDNGRV RIQHFYNVGQ 
WAKEIQRNPA RDEEGVFENN RVTCRFKRPV NVPRDETIVD LHLSWYYLFA WGPAIQGSIT 
RHDIDSPPAS ERVVSIYKYE DIFMPSAAYQ TFSSPFCLLL IVALTFYLLM GTP

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.