Details for: SPTLC1

Gene ID: 10558

Symbol: SPTLC1

Ensembl ID: ENSG00000090054

Description: serine palmitoyltransferase long chain base subunit 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: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.57
    Marker Score: 13,527
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.46
    Marker Score: 5,655
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.43
    Marker Score: 2,101
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.41
    Marker Score: 1,481
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.39
    Marker Score: 1,536
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.35
    Marker Score: 82,926
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.33
    Marker Score: 12,654
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.32
    Marker Score: 11,330
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.3
    Marker Score: 2,003
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.25
    Marker Score: 851
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.25
    Marker Score: 11,744
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.24
    Marker Score: 1,558
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.24
    Marker Score: 357
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.23
    Marker Score: 12,651
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.2
    Marker Score: 1,385
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.2
    Marker Score: 814
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.19
    Marker Score: 1,240
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.12
    Marker Score: 41,401
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.12
    Marker Score: 2,820
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.11
    Marker Score: 4,523
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.1
    Marker Score: 1,951
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.1
    Marker Score: 23,410
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.09
    Marker Score: 2,494
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.09
    Marker Score: 4,201
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.07
    Marker Score: 40,780
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.06
    Marker Score: 2,328
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.05
    Marker Score: 15,721
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.05
    Marker Score: 35,693
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.05
    Marker Score: 876
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.05
    Marker Score: 597
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.04
    Marker Score: 20,644
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.03
    Marker Score: 4,278
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.02
    Marker Score: 235
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.02
    Marker Score: 1,314
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1
    Marker Score: 1,654
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 1
    Marker Score: 1,231
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,669
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,892
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.99
    Marker Score: 1,069
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.99
    Marker Score: 7,576
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.98
    Marker Score: 2,630
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,387
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.98
    Marker Score: 1,885
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.98
    Marker Score: 1,036
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.96
    Marker Score: 571
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.96
    Marker Score: 14,955
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.95
    Marker Score: 1,280
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.95
    Marker Score: 351
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.95
    Marker Score: 461
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,396
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.94
    Marker Score: 2,256
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.94
    Marker Score: 271
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 482
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.93
    Marker Score: 1,343
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 439
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.92
    Marker Score: 582
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.91
    Marker Score: 983
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.91
    Marker Score: 3,779
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5,197
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.91
    Marker Score: 287
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.9
    Marker Score: 2,051
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,698
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.89
    Marker Score: 221
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.89
    Marker Score: 670
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.89
    Marker Score: 414
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.89
    Marker Score: 2,783
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.88
    Marker Score: 6,565
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.88
    Marker Score: 511
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.88
    Marker Score: 935
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.87
    Marker Score: 887
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,292
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.87
    Marker Score: 247
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.87
    Marker Score: 753
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.86
    Marker Score: 5,511
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.86
    Marker Score: 5,186
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.86
    Marker Score: 680
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.86
    Marker Score: 1,218
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.86
    Marker Score: 473
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.85
    Marker Score: 3,264
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.85
    Marker Score: 2,066
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.85
    Marker Score: 565
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.84
    Marker Score: 5,477
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.84
    Marker Score: 1,378
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.84
    Marker Score: 2,273
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.83
    Marker Score: 336
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.83
    Marker Score: 883
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.83
    Marker Score: 435
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.82
    Marker Score: 9,563
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.82
    Marker Score: 995
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.82
    Marker Score: 561
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.82
    Marker Score: 782
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.82
    Marker Score: 343
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.82
    Marker Score: 752
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 621
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.81
    Marker Score: 1,079
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.8
    Marker Score: 1,636
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.8
    Marker Score: 483
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.8
    Marker Score: 44,924
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.8
    Marker Score: 325

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. **Subunit of Serine Palmitoyltransferase Complex:** SPTLC1 is a subunit of the SPT complex, which is responsible for catalyzing the condensation of serine and palmitoyl-CoA to form S1P. 2. **De Novo Biosynthesis of Sphingolipids:** SPTLC1 is involved in the de novo biosynthesis of sphingolipids, which are essential components of cell membranes, signaling molecules, and regulatory pathways. 3. **Sphingosine-1-Phosphate (S1P) Production:** SPTLC1 is responsible for producing S1P, a signaling molecule that plays critical roles in various cellular processes, including cell migration, differentiation, and survival. 4. **Tissue-Specific Expression:** SPTLC1 is highly expressed in epithelial cells, neural progenitor cells, and immune cells, suggesting its importance in maintaining tissue homeostasis and immune function. **Pathways and Functions:** 1. **Ceramide Biosynthetic Process:** SPTLC1 is involved in the biosynthesis of ceramides, which are essential components of cell membranes and play critical roles in signaling pathways. 2. **Endoplasmic Reticulum and Endoplasmic Reticulum Membrane:** SPTLC1 is localized to the endoplasmic reticulum and endoplasmic reticulum membrane, suggesting its involvement in lipid metabolism and signaling pathways. 3. **Metabolism of Lipids:** SPTLC1 is involved in the metabolism of lipids, including sphingolipids, which are essential components of cell membranes and play critical roles in signaling pathways. 4. **Positive Regulation of Lipophagy:** SPTLC1 is involved in the positive regulation of lipophagy, a process by which cells recycle lipids and maintain cellular homeostasis. 5. **Protein Binding and Pyridoxal Phosphate Binding:** SPTLC1 is capable of binding to proteins and pyridoxal phosphate, a cofactor involved in various enzymatic reactions. **Clinical Significance:** Dysregulation of SPTLC1 has been implicated in various human diseases, including: 1. **Neurodegenerative Disorders:** SPTLC1 has been shown to play a critical role in the pathogenesis of neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 2. **Cancer:** SPTLC1 has been implicated in the development and progression of cancer, including breast cancer, lung cancer, and colon cancer. 3. **Inflammatory Disorders:** SPTLC1 has been shown to play a critical role in the regulation of inflammatory responses, and its dysregulation has been implicated in inflammatory disorders, such as atherosclerosis and rheumatoid arthritis. In conclusion, SPTLC1 is a crucial enzyme involved in the biosynthesis of sphingolipids, which play vital roles in various cellular processes. Its dysregulation has been implicated in various human diseases, highlighting the importance of further research into the mechanisms underlying SPTLC1 function and its clinical significance.

Genular Protein ID: 1362049628

Symbol: SPTC1_HUMAN

Name: Serine palmitoyltransferase 1

UniProtKB Accession Codes:

O15269 A8K681 Q5VWB4 Q96IX6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChEBI 25 ChEMBL 1 ChiTaRS 1 ComplexPortal 4 DIP 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 21 EMDB 19 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 14 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 39 PDBsum 17 PRO 1 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 3 Rhea 8 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9363775

Title: Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis.

PubMed ID: 9363775

DOI: 10.1111/j.1432-1033.1997.00239.x

PubMed ID: 11242114

Title: Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.

PubMed ID: 11242114

DOI: 10.1038/85879

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 17023427

Title: Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.

PubMed ID: 17023427

DOI: 10.1074/jbc.m608066200

PubMed ID: 19648650

Title: The SPTLC3 subunit of serine palmitoyltransferase generates short chain sphingoid bases.

PubMed ID: 19648650

DOI: 10.1074/jbc.m109.023192

PubMed ID: 19416851

Title: Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.

PubMed ID: 19416851

DOI: 10.1073/pnas.0811269106

PubMed ID: 20504773

Title: A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.

PubMed ID: 20504773

DOI: 10.1074/jbc.m110.122259

PubMed ID: 20182505

Title: Orm family proteins mediate sphingolipid homeostasis.

PubMed ID: 20182505

DOI: 10.1038/nature08787

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21994399

Title: MicroRNA-137/181c regulates serine palmitoyltransferase and in turn amyloid beta, novel targets in sporadic Alzheimer's disease.

PubMed ID: 21994399

DOI: 10.1523/jneurosci.3883-11.2011

PubMed ID: 23629659

Title: Phosphorylation of serine palmitoyltransferase long chain-1 (SPTLC1) on tyrosine 164 inhibits its activity and promotes cell survival.

PubMed ID: 23629659

DOI: 10.1074/jbc.m112.409185

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 30700557

Title: The ORMDL/Orm-serine palmitoyltransferase (SPT) complex is directly regulated by ceramide: Reconstitution of SPT regulation in isolated membranes.

PubMed ID: 30700557

DOI: 10.1074/jbc.ra118.007291

PubMed ID: 33558761

Title: Structural insights into the regulation of human serine palmitoyltransferase complexes.

PubMed ID: 33558761

DOI: 10.1038/s41594-020-00551-9

PubMed ID: 33558762

Title: Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex.

PubMed ID: 33558762

DOI: 10.1038/s41594-020-00553-7

PubMed ID: 37308477

Title: Ceramide sensing by human SPT-ORMDL complex for establishing sphingolipid homeostasis.

PubMed ID: 37308477

DOI: 10.1038/s41467-023-39274-y

PubMed ID: 15037712

Title: SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.

PubMed ID: 15037712

DOI: 10.1212/01.wnl.0000115388.10828.5c

PubMed ID: 17060578

Title: Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.

PubMed ID: 17060578

DOI: 10.1212/01.wnl.0000240068.21499.f5

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 19651702

Title: Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

PubMed ID: 19651702

DOI: 10.1093/brain/awp198

PubMed ID: 19132419

Title: A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.

PubMed ID: 19132419

DOI: 10.1007/s10048-008-0168-7

PubMed ID: 21618344

Title: Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

PubMed ID: 21618344

DOI: 10.1002/humu.21481

PubMed ID: 22302274

Title: Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

PubMed ID: 22302274

DOI: 10.1007/s00415-011-6397-y

PubMed ID: 23454272

Title: Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.

PubMed ID: 23454272

DOI: 10.1016/j.ejmg.2013.02.002

PubMed ID: 24247255

Title: Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

PubMed ID: 24247255

DOI: 10.3892/mmr.2013.1808

PubMed ID: 30420926

Title: V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.

PubMed ID: 30420926

DOI: 10.1155/2018/1898151

PubMed ID: 34459874

Title: Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

PubMed ID: 34459874

DOI: 10.1001/jamaneurol.2021.2598

PubMed ID: 34059824

Title: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.

PubMed ID: 34059824

DOI: 10.1038/s41591-021-01346-1

PubMed ID: 36204986

Title: A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis.

PubMed ID: 36204986

DOI: 10.1080/21678421.2022.2096409

Sequence Information:

  • Length: 473
  • Mass: 52744
  • Checksum: BA9E056A869D2EA2
  • Sequence:
    • MATATEQWVL VEMVQALYEA PAYHLILEGI LILWIIRLLF SKTYKLQERS DLTVKEKEEL 
IEEWQPEPLV PPVPKDHPAL NYNIVSGPPS HKTVVNGKEC INFASFNFLG LLDNPRVKAA 
ALASLKKYGV GTCGPRGFYG TFDVHLDLED RLAKFMKTEE AIIYSYGFAT IASAIPAYSK 
RGDIVFVDRA ACFAIQKGLQ ASRSDIKLFK HNDMADLERL LKEQEIEDQK NPRKARVTRR 
FIVVEGLYMN TGTICPLPEL VKLKYKYKAR IFLEESLSFG VLGEHGRGVT EHYGINIDDI 
DLISANMENA LASIGGFCCG RSFVIDHQRL SGQGYCFSAS LPPLLAAAAI EALNIMEENP 
GIFAVLKEKC GQIHKALQGI SGLKVVGESL SPAFHLQLEE STGSREQDVR LLQEIVDQCM 
NRSIALTQAR YLEKEEKCLP PPSIRVVVTV EQTEEELERA ASTIKEVAQA VLL

Genular Protein ID: 2236438418

Symbol: Q6NUL7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6NUL7

Database IDs:

ARBA 15 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 25 ChiTaRS 1 DNASU 1 EC 1 EMBL 2 GO 3 Gene3D 2 GenomeRNAi 1 IntAct 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 RefSeq 2 Rhea 8 SAM 2 SMR 1 SUPFAM 1

Citations:

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

Sequence Information:

  • Length: 513
  • Mass: 57396
  • Checksum: F8870EF1B008FEC3
  • Sequence:
    • MATATEQWVL VEMVQALYEA PAYHLILEGI LILWIIRLLF SKTYKLQERS DLTVKEKEEL 
IEEWQPEPLV PPVPKDHPAL NYNIVSGPPS HKTVVNGKEC INFASFNFLG LLDNPRVKAA 
ALASLKKYGV GTCGPRGFYG TFDVHLDLED RLAKFMKTEE AIIYSYGFAT IASAIPAYSK 
RGDIVFVDRA ACFAIQKGLQ ASRSDIKLFK HNDMADLERL LKEQEIEDQK NPRKARVTRR 
FIVVEGLYMN TGTICPLPEL VKLKYKYKAR IFLEESLSFG VLGEHGRGVT EHYGINIDDI 
DLISANMENA LASIGGFCCG RSFVIDHQRL SGQGYCFSAS LPPLLAAAAI EALNIMEENP 
GIFAVLKEKC GQIHKALQGI SGLKVVGESL SPAFHLQLEE STGSREQDVR LLQEIVDQCM 
NRSIALTRAR YLEKEEKCLP PPRGRTGESC VHHQGGSPGR PALGRVPGPW PPATQHAERT 
QDSRWPWSGL KESKNMWIFD RIVTKWCQYG PIV

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.