Details for: BCKDHA

Gene ID: 593

Symbol: BCKDHA

Ensembl ID: ENSG00000248098

Description: branched chain keto acid dehydrogenase E1 subunit alpha

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: 49.6319
    Cell Significance Index: -7.7200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 30.6730
    Cell Significance Index: -7.7800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 18.4298
    Cell Significance Index: -9.4800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.3993
    Cell Significance Index: -7.8900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.3186
    Cell Significance Index: -8.8900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.0185
    Cell Significance Index: -7.9700
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.9605
    Cell Significance Index: 22.1900
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.9097
    Cell Significance Index: 12.7600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.8584
    Cell Significance Index: 25.2100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.8008
    Cell Significance Index: 17.0600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7985
    Cell Significance Index: 143.9400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.7656
    Cell Significance Index: 7.0500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.6910
    Cell Significance Index: 8.8500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6617
    Cell Significance Index: 71.9700
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.4770
    Cell Significance Index: 2.3200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4727
    Cell Significance Index: 58.1300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4015
    Cell Significance Index: 362.5100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3454
    Cell Significance Index: 23.8900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3406
    Cell Significance Index: 40.1700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2828
    Cell Significance Index: 46.0000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2493
    Cell Significance Index: 6.6800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2194
    Cell Significance Index: 44.0200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2050
    Cell Significance Index: 26.2800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1921
    Cell Significance Index: 19.0100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1844
    Cell Significance Index: 4.6100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1447
    Cell Significance Index: 51.8900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1319
    Cell Significance Index: 10.1300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1235
    Cell Significance Index: 2.6400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1165
    Cell Significance Index: 22.1700
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.1131
    Cell Significance Index: 0.7000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.1093
    Cell Significance Index: 2.0200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0815
    Cell Significance Index: 4.5800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0783
    Cell Significance Index: 4.8100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0743
    Cell Significance Index: 1.9600
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 0.0722
    Cell Significance Index: 0.6200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0653
    Cell Significance Index: 4.1200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0643
    Cell Significance Index: 3.2500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0517
    Cell Significance Index: 1.4900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0384
    Cell Significance Index: 1.1000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0360
    Cell Significance Index: 1.6300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0282
    Cell Significance Index: 0.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0176
    Cell Significance Index: 0.7800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0145
    Cell Significance Index: 0.5500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0139
    Cell Significance Index: 0.4900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0013
    Cell Significance Index: -0.5700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0041
    Cell Significance Index: -7.7800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0048
    Cell Significance Index: -8.8400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0057
    Cell Significance Index: -0.1200
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0059
    Cell Significance Index: -0.0400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0059
    Cell Significance Index: -9.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0064
    Cell Significance Index: -3.5100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0065
    Cell Significance Index: -4.9000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0069
    Cell Significance Index: -9.4200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0084
    Cell Significance Index: -6.2100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0125
    Cell Significance Index: -9.1700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0125
    Cell Significance Index: -7.0600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0142
    Cell Significance Index: -4.1000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0145
    Cell Significance Index: -9.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0151
    Cell Significance Index: -2.0700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0162
    Cell Significance Index: -1.6500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0196
    Cell Significance Index: -8.9100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0314
    Cell Significance Index: -0.6800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0322
    Cell Significance Index: -0.8600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0389
    Cell Significance Index: -6.6400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0404
    Cell Significance Index: -8.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0421
    Cell Significance Index: -8.3500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0422
    Cell Significance Index: -5.4500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0459
    Cell Significance Index: -5.3500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0518
    Cell Significance Index: -1.6600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0576
    Cell Significance Index: -3.5300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0599
    Cell Significance Index: -6.8600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0634
    Cell Significance Index: -9.2100
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.0685
    Cell Significance Index: -0.4300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0698
    Cell Significance Index: -5.2000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0721
    Cell Significance Index: -1.7300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0765
    Cell Significance Index: -7.9700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0877
    Cell Significance Index: -0.5300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0979
    Cell Significance Index: -4.6000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1005
    Cell Significance Index: -1.5600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1080
    Cell Significance Index: -7.6400
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1107
    Cell Significance Index: -0.7200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1162
    Cell Significance Index: -6.1000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1165
    Cell Significance Index: -9.2300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1165
    Cell Significance Index: -1.9600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1206
    Cell Significance Index: -3.2300
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.1218
    Cell Significance Index: -0.9200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1234
    Cell Significance Index: -8.3000
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: -0.1285
    Cell Significance Index: -0.7700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1294
    Cell Significance Index: -4.5000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1312
    Cell Significance Index: -1.7900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1355
    Cell Significance Index: -8.7400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1465
    Cell Significance Index: -7.6100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1475
    Cell Significance Index: -6.8800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1476
    Cell Significance Index: -5.1700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1482
    Cell Significance Index: -2.4800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1491
    Cell Significance Index: -4.7500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1539
    Cell Significance Index: -5.0400
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: -0.1595
    Cell Significance Index: -0.8700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1602
    Cell Significance Index: -5.8800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1690
    Cell Significance Index: -2.4200

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** BCKDHA is a pyruvate-dependent enzyme that catalyzes the conversion of branched-chain keto acids to acyl-CoA derivatives. This reaction is a critical step in the catabolic pathway of BCAAs, which ultimately leads to the production of energy and the synthesis of intermediates for gluconeogenesis and the citric acid cycle. BCKDHA is a type II pyruvate dehydrogenase, meaning it requires pyruvate as a cofactor to facilitate the reaction. The enzyme is composed of three subunits, including the alpha, beta, and gamma subunits, which work together to catalyze the reaction. **Pathways and Functions** BCKDHA plays a central role in the catabolic pathway of BCAAs, which involves the following steps: 1. Leucine, isoleucine, and valine are converted to their corresponding keto acids, which are then transported into the mitochondria. 2. The branched-chain keto acid dehydrogenase complex (BCKDC) is formed, consisting of the BCKDHA subunit, the BCKDHB subunit, and the dihydrolipoyl transacetylase (DLPAT) subunit. 3. The BCKDC catalyzes the conversion of the branched-chain keto acids to acyl-CoA derivatives, which are then transported into the mitochondria for further processing. 4. The acyl-CoA derivatives are subsequently converted to acetyl-CoA, which enters the citric acid cycle, producing energy for the cell. 5. The intermediates produced during the catabolic pathway of BCAAs are also used for gluconeogenesis and the synthesis of other important molecules. **Clinical Significance** Dysregulation of BCKDHA has been implicated in various diseases, including: 1. Maple syrup urine disease (MSUD), a genetic disorder caused by mutations in the BCKDHA gene that leads to the accumulation of branched-chain amino acids and their toxic byproducts. 2. Leucine toxicity, which can occur in patients with MSUD or other disorders that affect BCKDHA function. 3. Mitochondrial disorders, such as MERRF (myoclonic epilepsy with ragged-red fibers), which can be caused by mutations in the BCKDHA gene. 4. Cancer, where altered expression of BCKDHA has been observed in various types of tumors, including leukemia and lymphoma. In conclusion, BCKDHA is a critical enzyme involved in the catabolic pathway of BCAAs, and its dysregulation can have significant clinical implications. Further research is needed to fully understand the role of BCKDHA in human health and disease.

Genular Protein ID: 1030522781

Symbol: ODBA_HUMAN

Name: Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain

UniProtKB Accession Codes:

P12694 B4DP47 E7EW46 Q16034 Q16472

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 21 ChiTaRS 1 ComplexPortal 1 DIP 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 24 PDBsum 24 PIR 1 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 2 RefSeq 2 Rhea 4 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1420356

Title: Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha-ketoacid dehydrogenase complex.

PubMed ID: 1420356

DOI: 10.1016/0167-4781(92)90149-t

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 2914958

Title: Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex.

PubMed ID: 2914958

DOI: 10.1016/s0021-9258(18)94087-1

PubMed ID: 2060625

Title: Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 2060625

DOI: 10.1016/0014-5793(91)80755-r

PubMed ID: 1682165

Title:

PubMed ID: 1682165

DOI: 10.1016/0014-5793(91)81324-2

PubMed ID: 3224821

Title: Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase.

PubMed ID: 3224821

DOI: 10.1016/0378-1119(88)90390-3

PubMed ID: 7918575

Title: Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence.

PubMed ID: 7918575

DOI: 10.1016/0304-4165(94)90161-9

PubMed ID: 19411760

Title: Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells.

PubMed ID: 19411760

DOI: 10.1172/jci38151

PubMed ID: 22589535

Title: Tissue-specific and nutrient regulation of the branched-chain alpha-keto acid dehydrogenase phosphatase, protein phosphatase 2Cm (PP2Cm).

PubMed ID: 22589535

DOI: 10.1074/jbc.m112.351031

PubMed ID: 10745006

Title: Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.

PubMed ID: 10745006

DOI: 10.1016/s0969-2126(00)00105-2

PubMed ID: 8037208

Title: Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 8037208

PubMed ID: 2703538

Title: Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

PubMed ID: 2703538

DOI: 10.1172/jci114033

PubMed ID: 2241958

Title: A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.

PubMed ID: 2241958

DOI: 10.1016/0006-291x(90)90723-z

PubMed ID: 1867199

Title: Occurrence of a Tyr393-->Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

PubMed ID: 1867199

PubMed ID: 1885764

Title: Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 1885764

DOI: 10.1172/jci115363

PubMed ID: 8161368

Title: Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.

PubMed ID: 8161368

DOI: 10.1016/0925-4439(93)90123-i

PubMed ID: 7883996

Title: Molecular and biochemical basis of intermediate maple syrup urine disease: occurrence of homozygous G245R and F364C mutations at the E1-alpha locus of Hispanic-Mexican patients.

PubMed ID: 7883996

DOI: 10.1172/jci117804

PubMed ID: 9582350

Title: Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.

PubMed ID: 9582350

DOI: 10.1074/jbc.273.21.13110

PubMed ID: 21844576

Title: Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.

PubMed ID: 21844576

Sequence Information:

  • Length: 445
  • Mass: 50471
  • Checksum: 2B4DD658924DB0C3
  • Sequence:
    • MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE 
FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY 
ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG 
NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA 
ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG 
NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE VNYWDKQDHP 
ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK PKPNPNLLFS DVYQEMPAQL 
RKQQESLARH LQTYGEHYPL DHFDK

Genular Protein ID: 1639317202

Symbol: Q59EI3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59EI3

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 6 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 3 Gene3D 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 Rhea 4 RuleBase 1 SAM 1 SUPFAM 1

Sequence Information:

  • Length: 444
  • Mass: 50400
  • Checksum: C5A54AFF6AB9BF87
  • Sequence:
    • MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE 
FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY 
ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG 
NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA 
ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIARGPGY GIMSIRVDGN 
DVFAVYNATK EARRRAVAEN QPFLIEAMTY RIGHHSTSDD SSAYRSVDEV NYWDKQDHPI 
SRLRHYLLSQ GWWDEEQEKA WRKQSRRKVM EAFEQAERKP KPNPNLLFSD VYQEMPAQLR 
KQQESLARHL QTYGEHYPLD HFDK

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.