Details for: DBT

Gene ID: 1629

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: DBT

Ensembl ID: ENSG00000137992

Description: dihydrolipoamide branched chain transacylase E2

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 8.32
    rCSI 11.79%
    PRS 69.11
  • VIP GABAergic cortical interneuron CL4023016
    CSI 5.63
    rCSI 6.72%
    PRS 53.99
  • midzonal region hepatocyte CL0019028
    CSI 3.26
    rCSI 7.65%
    PRS 74.52
  • renal alpha-intercalated cell CL0005011
    CSI 2.96
    rCSI 3.96%
    PRS 80.58
  • melanocyte CL0000148
    CSI 2.88
    rCSI 2.13%
    PRS 65.74
  • neural crest cell CL0011012
    CSI 2.84
    rCSI 2.24%
    PRS 60.31
  • hepatic stellate cell CL0000632
    CSI 2.76
    rCSI 10.35%
    PRS 64.79
  • ependymal cell CL0000065
    CSI 2.74
    rCSI 5.55%
    PRS 50.99
  • renal beta-intercalated cell CL0002201
    CSI 2.73
    rCSI 6.51%
    PRS 73.15
  • epithelial cell of lower respiratory tract CL0002632
    CSI 2.71
    rCSI 2.1%
    PRS 76.18
  • choroid plexus epithelial cell CL0000706
    CSI 2.54
    rCSI 4.16%
    PRS 61.84
  • lung ciliated cell CL1000271
    CSI 2.42
    rCSI 2.8%
    PRS 64.12
  • retinal cone cell CL0000573
    CSI 2.4
    rCSI 3.86%
    PRS 62.34
  • Schwann cell CL0002573
    CSI 2.37
    rCSI 6.74%
    PRS 69.36
  • ciliated epithelial cell CL0000067
    CSI 2.36
    rCSI 2.08%
    PRS 61.16
  • interneuron CL0000099
    CSI 2.3
    rCSI 4.61%
    PRS 62.18
  • bronchus fibroblast of lung CL2000093
    CSI 2.24
    rCSI 1.82%
    PRS 72.82
  • cerebral cortex endothelial cell CL1001602
    CSI 2.24
    rCSI 3.87%
    PRS 63.34
  • multi-ciliated epithelial cell CL0005012
    CSI 2.21
    rCSI 2.21%
    PRS 66.41
  • Mueller cell CL0000636
    CSI 2.1
    rCSI 4.79%
    PRS 64.08
  • transit amplifying cell of colon CL0009011
    CSI 2.08
    rCSI 2.44%
    PRS 74.83
  • ionocyte CL0005006
    CSI 2.01
    rCSI 2.16%
    PRS 73.42
  • stem cell CL0000034
    CSI 2
    rCSI 1.93%
    PRS 64.94
  • alveolar type 1 fibroblast cell CL4028004
    CSI 1.99
    rCSI 2.18%
    PRS 75.65
  • vascular leptomeningeal cell CL4023051
    CSI 1.99
    rCSI 3.48%
    PRS 65.52
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 1.95
    rCSI 2.42%
    PRS 52.1
  • regular ventricular cardiac myocyte CL0002131
    CSI 1.93
    rCSI 12.07%
    PRS 64.33
  • sst GABAergic cortical interneuron CL4023017
    CSI 1.91
    rCSI 2.46%
    PRS 55.41
  • retinal bipolar neuron CL0000748
    CSI 1.82
    rCSI 3.41%
    PRS 60.71
  • cerebral cortex neuron CL0010012
    CSI 1.81
    rCSI 7.36%
    PRS 65.35
  • lung secretory cell CL1000272
    CSI 1.77
    rCSI 4.39%
    PRS 71.94
  • alveolar macrophage CL0000583
    CSI 1.76
    rCSI 2.9%
    PRS 77.85
  • cardiac endothelial cell CL0010008
    CSI 1.76
    rCSI 7.1%
    PRS 72.07
  • chondrocyte CL0000138
    CSI 1.75
    rCSI 2.78%
    PRS 65.44
  • hepatocyte CL0000182
    CSI 1.75
    rCSI 3.13%
    PRS 72.14
  • fallopian tube secretory epithelial cell CL4030006
    CSI 1.71
    rCSI 1.65%
    PRS 72.36
  • periportal region hepatocyte CL0019026
    CSI 1.64
    rCSI 6.39%
    PRS 74.45
  • epithelial cell of proximal tubule CL0002306
    CSI 1.57
    rCSI 3.84%
    PRS 65.79
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.46
    rCSI 2.44%
    PRS 54.11
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 1.43
    rCSI 1.29%
    PRS 70.27
  • alveolar adventitial fibroblast CL4028006
    CSI 1.42
    rCSI 2.25%
    PRS 74.75
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.41
    rCSI 2.49%
    PRS 53.19
  • cardiac muscle cell CL0000746
    CSI 1.37
    rCSI 1.96%
    PRS 62.2
  • centrilobular region hepatocyte CL0019029
    CSI 1.31
    rCSI 3.42%
    PRS 73.2
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.27
    rCSI 2.85%
    PRS 54.67
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 1.24
    rCSI 0.96%
    PRS 74.94
  • type B pancreatic cell CL0000169
    CSI 1.22
    rCSI 2.7%
    PRS 71.76
  • renal interstitial pericyte CL1001318
    CSI 1.16
    rCSI 3.2%
    PRS 67.7
  • kidney connecting tubule epithelial cell CL1000768
    CSI 1.13
    rCSI 2.88%
    PRS 62.58
  • amacrine cell CL0000561
    CSI 1.13
    rCSI 3.27%
    PRS 61.92
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.1
    rCSI 1.77%
    PRS 55.91
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 0.82
    rCSI 2.95%
    PRS 52.18
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 0.72
    rCSI 1.76%
    PRS 52.33
  • podocyte CL0000653
    CSI 0.69
    rCSI 3.05%
    PRS 73.11
  • dopaminergic neuron CL0000700
    CSI 0.64
    rCSI 3.6%
    PRS 58.21
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.6
    rCSI 2.28%
    PRS 54.57
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.6
    rCSI 14.57%
    PRS 53.47
  • direct pathway medium spiny neuron CL4023026
    CSI 0.59
    rCSI 14.21%
    PRS 52.85
  • L6b glutamatergic cortical neuron CL4023038
    CSI 0.56
    rCSI 1.76%
    PRS 55.86
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 0.56
    rCSI 1.75%
    PRS 58.35
  • medium spiny neuron CL1001474
    CSI 0.37
    rCSI 3.16%
    PRS 59.86
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.33
    rCSI 1.97%
    PRS 55.09
  • central nervous system neuron CL2000029
    CSI 0.31
    rCSI 2.27%
    PRS 59.55

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.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [DBT](/details-gene/1629), or dihydrolipoamide branched chain transacylase E2, is a protein-coding gene located on chromosome 1p21.2. It encodes the E2 component of the mitochondrial branched-chain alpha-keto acid dehydrogenase (BCKDH) complex. This complex plays an essential role in the catabolism of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine. Functionally, [DBT](/details-gene/1629) acts as an acyltransferase, specifically catalyzing the transfer of an acyl group from the E1 component to coenzyme A ([Link](https://pubmed.ncbi.nlm.nih.gov/2708389/)). Consistent with its fundamental metabolic role, the gene is expressed across a wide range of cell types. **Overall**, it shows particularly high significance in metabolically active cells, including [kidney loop of Henle thin descending limb epithelial cell](/details-cell/CL1001111), [VIP GABAergic cortical interneuron](/details-cell/CL4023016), and [midzonal region hepatocyte](/details-cell/CL0019028). Loss-of-function mutations in [DBT](/details-gene/1629) are clinically significant, causing Maple Syrup Urine Disease, type 2 (MSUD2), an autosomal recessive disorder characterized by the toxic accumulation of BCAAs and their ketoacid derivatives ([248610](https://omim.org/entry/248610)). ## Cellular Roles and Expression Landscape The expression profile of [DBT](/details-gene/1629) highlights its critical role in cellular metabolism across diverse tissues. The gene's highest significance is observed in cell types with high energy demands or specialized metabolic functions. **Overall**, the top expressing cells underscore its importance in three main systems: 1. **Renal and Hepatic Tissues:** The highest cell significance index (CSI) for [DBT](/details-gene/1629) is found in [kidney loop of Henle thin descending limb epithelial cell](/details-cell/CL1001111) (CSI: 8.32), with strong signals also in [renal alpha-intercalated cell](/details-cell/CL0005011) and [renal beta-intercalated cell](/details-cell/CL0002201). This suggests a crucial role for BCAA catabolism in kidney physiology, potentially related to energy production for ion transport or maintenance of osmotic gradients. Similarly, its high expression in [midzonal region hepatocyte](/details-cell/CL0019028) and [hepatic stellate cell](/details-cell/CL0000632) is consistent with the liver's central role in processing amino acids. 2. **Nervous System:** [DBT](/details-gene/1629) is highly significant in [VIP GABAergic cortical interneuron](/details-cell/CL4023016) (CSI: 5.63), as well as in supportive neural cells like [ependymal cell](/details-cell/CL0000065) and [Schwann cell](/details-cell/CL0002573). This expression pattern suggests that BCAA catabolism is a vital metabolic pathway in the central and peripheral nervous systems, likely providing energy and precursors for neurotransmitter synthesis. The neurological symptoms of MSUD2 are a direct clinical correlate of this dependency. 3. **Specialized Epithelial and Other Cells:** The gene is also a notable marker in various other specialized cell types, including [melanocyte](/details-cell/CL0000148), [epithelial cell of lower respiratory tract](/details-cell/CL0002632), and [choroid plexus epithelial cell](/details-cell/CL0000706). This broad but specific expression pattern indicates that [DBT](/details-gene/1629) is a fundamental metabolic enzyme whose activity is particularly vital in cells with high metabolic turnover or specialized functions. ## Pathways and Molecular Function Functionally, [DBT](/details-gene/1629) is integral to core amino acid metabolism. As a key component of the [Branched-chain alpha-ketoacid dehydrogenase complex](/details-ontology/GO:0160157) located within the [mitochondrial matrix](/details-ontology/GO:0005759), its primary molecular function is [Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity](/details-ontology/GO:0043754). This enzymatic step is essential for the [Branched-chain amino acid catabolic process](/details-ontology/GO:0009083). The Reactome pathway analysis firmly places [DBT](/details-gene/1629) within the [Branched-chain amino acid catabolism](/details-pathway/R-HSA-70895) pathway. Its clinical relevance is explicitly detailed in pathways associated with metabolic disorders. Specifically, [Loss-of-function mutations in dbt cause msud2](/details-pathway/R-HSA-9865113), which is a subtype of [Maple syrup urine disease](/details-pathway/R-HSA-9865114). The gene's involvement in post-translational modification via [Protein lipoylation](/details-pathway/R-HSA-9857492) is also noted, a process critical for the function of several mitochondrial dehydrogenase complexes. Some annotations also link [DBT](/details-gene/1629) to [Signaling by rho gtpases](/details-pathway/R-HSA-194315), suggesting potential secondary roles beyond its primary metabolic function, though these connections are less characterized. ## Research Directions The widespread yet cell-type-specific significance of [DBT](/details-gene/1629) provides a basis for several testable hypotheses regarding its role in physiology and disease. 1. **Hypothesis 1:** The exceptionally high significance of [DBT](/details-gene/1629) in the [kidney loop of Henle thin descending limb epithelial cell](/details-cell/CL1001111) suggests that local BCAA catabolism is a critical and non-redundant energy source for maintaining the steep osmotic gradients required for water reabsorption in this segment of the nephron. Defects in this process could contribute to subclinical renal stress or dysfunction in individuals with MSUD2, even under dietary management. 2. **Hypothesis 2:** Given its high expression in [VIP GABAergic cortical interneuron](/details-cell/CL4023016), this specific neuronal subtype may be uniquely vulnerable to BCAA accumulation or energy deficits resulting from [DBT](/details-gene/1629) dysfunction. This vulnerability could be a primary driver of the specific neurological symptoms, such as seizures and cognitive impairment, observed in MSUD2, by disrupting the excitatory-inhibitory balance in the cerebral cortex. **Experimental Approach to Test Hypothesis 2:** To test the role of [DBT](/details-gene/1629) in GABAergic interneurons, a conditional knockout mouse model could be developed. By crossing a mouse line carrying a floxed *Dbt* allele with a VIP-Cre driver line, the gene would be selectively deleted in vasoactive intestinal peptide-expressing interneurons. The resulting phenotype could be analyzed using a multi-pronged approach: * **Electrophysiology:** Patch-clamp recordings from cortical slices could assess changes in neuronal firing patterns, synaptic transmission, and overall excitability of VIP interneurons and their postsynaptic targets. * **Neurochemical Analysis:** High-performance liquid chromatography (HPLC) or mass spectrometry could be used to quantify levels of BCAAs, their ketoacid derivatives, and key neurotransmitters (GABA, glutamate) in microdissected cortical regions. * **Behavioral Studies:** A battery of behavioral tests could evaluate the mice for anxiety, learning and memory deficits, and seizure susceptibility, providing a functional readout of the circuit-level disruption. **Therapeutic Potential:** As MSUD2 is a loss-of-function metabolic disorder, [DBT](/details-gene/1629) is not a target for inhibition. Instead, therapeutic strategies would focus on restoration of function. The most promising long-term approach is likely **gene replacement therapy**, using AAV vectors to deliver a functional copy of the [DBT](/details-gene/1629) gene, with the liver being a primary target due to its central role in BCAA metabolism. Enzyme replacement therapy is conceptually possible but is complicated by the challenge of delivering a recombinant protein across both the cell and mitochondrial membranes to the mitochondrial matrix where it functions.

Genular Protein ID: 1865345329

Symbol: ODB2_HUMAN

Name: Branched-chain alpha-keto acid dehydrogenase complex component E2

UniProtKB Accession Codes:

P11182 B2R811 Q5VVL8

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 14 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 4 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 5 RefSeq 1 Rhea 4 SABIO-RK 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1420314

Title: The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 1420314

DOI: 10.1016/0167-4781(92)90169-z

PubMed ID: 3245861

Title: Nucleotide sequence of a cDNA for branched chain acyltransferase with analysis of the deduced protein structure.

PubMed ID: 3245861

DOI: 10.1016/s0021-9258(18)68766-6

PubMed ID: 2708389

Title: Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase.

PubMed ID: 2708389

DOI: 10.1016/s0021-9258(18)83297-5

PubMed ID: 2742576

Title: Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex.

PubMed ID: 2742576

DOI: 10.1016/0006-291x(89)91347-8

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 2837277

Title: Conservation of primary structure in the lipoyl-bearing and dihydrolipoyl dehydrogenase binding domains of mammalian branched-chain alpha-keto acid dehydrogenase complex: molecular cloning of human and bovine transacylase (E2) cDNAs.

PubMed ID: 2837277

DOI: 10.1021/bi00406a025

PubMed ID: 1429740

Title: Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene.

PubMed ID: 1429740

DOI: 10.1016/s0021-9258(18)35950-7

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: 2908870

Title: Reactivity of primary biliary cirrhosis sera with a human fetal liver cDNA clone of branched-chain alpha-keto acid dehydrogenase dihydrolipoamide acyltransferase, the 52 kD mitochondrial autoantigen.

PubMed ID: 2908870

DOI: 10.1002/hep.1840090110

PubMed ID: 7543435

Title: Autoantibodies to BCOADC-E2 in patients with primary biliary cirrhosis recognize a conformational epitope.

PubMed ID: 7543435

DOI: 10.1016/0270-9139(95)90572-3

PubMed ID: 9141421

Title: Comparative studies of antimitochondrial autoantibodies in sera and bile in primary biliary cirrhosis.

PubMed ID: 9141421

DOI: 10.1002/hep.510250506

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: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22291014

Title: Structural and biochemical characterization of human mitochondrial branched-chain alpha-ketoacid dehydrogenase phosphatase.

PubMed ID: 22291014

DOI: 10.1074/jbc.m111.314963

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: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 37558654

Title: Small molecule branched-chain ketoacid dehydrogenase kinase (BDK) inhibitors with opposing effects on BDK protein levels.

PubMed ID: 37558654

DOI: 10.1038/s41467-023-40536-y

PubMed ID: 11839747

Title: Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 11839747

DOI: 10.1074/jbc.m110952200

PubMed ID: 1847055

Title: A 17-bp insertion and a Phe215-->Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.

PubMed ID: 1847055

DOI: 10.1016/0006-291x(91)91489-y

PubMed ID: 9621512

Title: Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 9621512

DOI: 10.1007/s100380050047

Sequence Information:

  • Length: 482
  • Mass: 53517
  • Checksum: A6CE6E8D532E10FA
  • Sequence:
    • MAAVRMLRTW SRNAGKLICV RYFQTCGNVH VLKPNYVCFF GYPSFKYSHP HHFLKTTAAL 
RGQVVQFKLS DIGEGIREVT VKEWYVKEGD TVSQFDSICE VQSDKASVTI TSRYDGVIKK 
LYYNLDDIAY VGKPLVDIET EALKDSEEDV VETPAVSHDE HTHQEIKGRK TLATPAVRRL 
AMENNIKLSE VVGSGKDGRI LKEDILNYLE KQTGAILPPS PKVEIMPPPP KPKDMTVPIL 
VSKPPVFTGK DKTEPIKGFQ KAMVKTMSAA LKIPHFGYCD EIDLTELVKL REELKPIAFA 
RGIKLSFMPF FLKAASLGLL QFPILNASVD ENCQNITYKA SHNIGIAMDT EQGLIVPNVK 
NVQICSIFDI ATELNRLQKL GSVSQLSTTD LTGGTFTLSN IGSIGGTFAK PVIMPPEVAI 
GALGSIKAIP RFNQKGEVYK AQIMNVSWSA DHRVIDGATM SRFSNLWKSY LENPAFMLLD 
LK

Genular Protein ID: 339211145

Symbol: A0A7P0T9W1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A7P0T9W1

Database IDs:

ARBA 2 AlphaFoldDB 1 Bgee 1 CTD 1 ChEBI 1 DisGeNET 1 EMBL 1 Ensembl 2 GO 1 Gene3D 2 GeneTree 1 HGNC 1 InterPro 5 NCBI Taxonomy 1 PANTHER 2 PROSITE 2 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 3 SMR 1 SUPFAM 2

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

Sequence Information:

  • Length: 301
  • Mass: 32977
  • Checksum: 75BD7184C3A2C111
  • Sequence:
    • MENNIKLSEV VGSGKDGRIL KEDILNYLEK QTGAILPPSP KVEIMPPPPK PKDMTVPILV 
SKPPVFTGKD KTEPIKGFQK AMVKTMSAAL KIPHFGYCDE IDLTELVKLR EELKPIAFAR 
GIKLSFMPFF LKAASLGLLQ FPILNASVDE NCQNITYKAS HNIGIAMDTE QGLIVPNVKN 
VQICSIFDIA TELNRLQKLG SVSQLSTTDL TGGTFTLSNI GSIGGTFAKP VIMPPEVAIG 
ALGSIKAIPR FNQKGEVYKA QIMNVSWSAD HRVIDGATMS RFSNLWKSYL ENPAFMLLDL 
K