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    DLAT dihydrolipoamide S-acetyltransferase [ Homo sapiens (human) ]

    Gene ID: 1737, updated on 5-May-2024

    Summary

    Official Symbol
    DLATprovided by HGNC
    Official Full Name
    dihydrolipoamide S-acetyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:2896
    See related
    Ensembl:ENSG00000150768 MIM:608770; AllianceGenome:HGNC:2896
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E2; PBC; DLTA; PDCE2; PDC-E2
    Summary
    This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in heart (RPKM 30.4), fat (RPKM 17.2) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DLAT in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (112025408..112064404)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (112035650..112074647)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111896132..111935128)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene Sharpr-MPRA regulatory region 8432 Neighboring gene crystallin alpha B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3903 Neighboring gene chromosome 11 open reading frame 52 Neighboring gene RNA, 5S ribosomal pseudogene 351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3904 Neighboring gene DIX domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111848219-111848850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5528 Neighboring gene RNA, U6 small nuclear 893, pseudogene Neighboring gene peptidylprolyl isomerase H pseudogene 1 Neighboring gene PIH1 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5531 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111958561-111959094 Neighboring gene NKAP domain containing 1 Neighboring gene translocase of inner mitochondrial membrane 8 homolog B Neighboring gene succinate dehydrogenase complex subunit D

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in acetyl-CoA biosynthetic process from pyruvate IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in acetyl-CoA biosynthetic process from pyruvate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in acetyl-CoA biosynthetic process from pyruvate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tricarboxylic acid cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of pyruvate dehydrogenase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of pyruvate dehydrogenase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of pyruvate dehydrogenase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
    Names
    70 kDa mitochondrial autoantigen of primary biliary cirrhosis
    E2 component of pyruvate dehydrogenase complex
    M2 antigen complex 70 kDa subunit
    dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
    pyruvate dehydrogenase complex component E2
    NP_001358960.1
    NP_001358961.1
    NP_001358962.1
    NP_001358963.1
    NP_001358964.1
    NP_001358965.1
    NP_001358966.1
    NP_001358967.1
    NP_001358968.1
    NP_001358969.1
    NP_001358970.1
    NP_001358971.1
    NP_001922.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013342.1 RefSeqGene

      Range
      5595..44591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001372031.1NP_001358960.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000907
      UniProtKB/TrEMBL
      A0A7P0Z4G4
      Conserved Domains (2) summary
      PRK11892
      Location:96175
      PRK11892; pyruvate dehydrogenase subunit beta; Provisional
      TIGR01349
      Location:221653
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    2. NM_001372032.1NP_001358961.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000907
      Consensus CDS
      CCDS91590.1
      UniProtKB/TrEMBL
      A0A7P0TBE2, A0A7P0Z4G4
      Related
      ENSP00000506560.1, ENST00000681316.1
      Conserved Domains (2) summary
      PRK11892
      Location:96175
      PRK11892; pyruvate dehydrogenase subunit beta; Provisional
      TIGR01349
      Location:221645
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    3. NM_001372033.1NP_001358962.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP000907
      Consensus CDS
      CCDS91588.1
      UniProtKB/TrEMBL
      A0A7P0TAX2, A0A7P0Z4G4
      Related
      ENSP00000506355.1, ENST00000681328.1
      Conserved Domains (2) summary
      PRK11892
      Location:96175
      PRK11892; pyruvate dehydrogenase subunit beta; Provisional
      TIGR01349
      Location:221640
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    4. NM_001372034.1NP_001358963.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP000907
      Consensus CDS
      CCDS91593.1
      UniProtKB/TrEMBL
      A0A7P0T997, A0A7P0Z4G4
      Related
      ENSP00000505567.1, ENST00000679878.1
      Conserved Domains (2) summary
      cd06849
      Location:95154
      lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...
      TIGR01349
      Location:210636
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    5. NM_001372035.1NP_001358964.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP000907
      Consensus CDS
      CCDS91589.1
      UniProtKB/TrEMBL
      A0A7P0TAG1, A0A7P0Z4G4
      Related
      ENSP00000506167.1, ENST00000681339.1
      Conserved Domains (2) summary
      PRK11892
      Location:96175
      PRK11892; pyruvate dehydrogenase subunit beta; Provisional
      TIGR01349
      Location:221611
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    6. NM_001372036.1NP_001358965.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP000907
      UniProtKB/TrEMBL
      B4DJX1
      Conserved Domains (2) summary
      PRK11892
      Location:80133
      PRK11892; pyruvate dehydrogenase subunit beta; Provisional
      TIGR01349
      Location:179605
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    7. NM_001372037.1NP_001358966.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 8

      Status: REVIEWED

      Source sequence(s)
      AP000907
      UniProtKB/TrEMBL
      B4DJX1
      Related
      ENSP00000505915.1, ENST00000680411.1
      Conserved Domains (2) summary
      PRK11892
      Location:40119
      PRK11892; pyruvate dehydrogenase subunit beta; Provisional
      TIGR01349
      Location:165591
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    8. NM_001372038.1NP_001358967.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 9

      Status: REVIEWED

      Source sequence(s)
      AP000907
      Consensus CDS
      CCDS91592.1
      UniProtKB/TrEMBL
      A0A7P0TBK2
      Related
      ENSP00000506707.1, ENST00000680331.1
      Conserved Domains (1) summary
      TIGR01349
      Location:127554
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    9. NM_001372039.1NP_001358968.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 10

      Status: REVIEWED

      Source sequence(s)
      AP000907
      Consensus CDS
      CCDS91591.1
      UniProtKB/TrEMBL
      A0A7P0Z4G4, E9PEJ4
      Related
      ENSP00000376771.1, ENST00000393051.5
      Conserved Domains (1) summary
      TIGR01349
      Location:93542
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    10. NM_001372040.1NP_001358969.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 11

      Status: REVIEWED

      Source sequence(s)
      AP000907
      Consensus CDS
      CCDS91587.1
      UniProtKB/TrEMBL
      B4DLQ2, H0YDD4
      Related
      ENSP00000433432.2, ENST00000531306.2
      Conserved Domains (1) summary
      TIGR01349
      Location:93520
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    11. NM_001372041.1NP_001358970.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 12

      Status: REVIEWED

      Source sequence(s)
      AP000907
      Conserved Domains (1) summary
      TIGR01349
      Location:93506
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    12. NM_001372042.1NP_001358971.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 13

      Status: REVIEWED

      Source sequence(s)
      AP000907
      UniProtKB/TrEMBL
      A0A7P0TA47
      Related
      ENSP00000506007.1, ENST00000679614.1
      Conserved Domains (1) summary
      TIGR01349
      Location:67493
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    13. NM_001931.5NP_001922.2  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001922.2

      Status: REVIEWED

      Source sequence(s)
      AP000907
      Consensus CDS
      CCDS8354.1
      UniProtKB/Swiss-Prot
      P10515, Q16783, Q53EP3
      UniProtKB/TrEMBL
      A0A7P0Z4G4, Q86YI5
      Related
      ENSP00000280346.7, ENST00000280346.11
      Conserved Domains (2) summary
      PRK11892
      Location:96175
      PRK11892; pyruvate dehydrogenase subunit beta; Provisional
      TIGR01349
      Location:221647
      PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

    RNA

    1. NR_164072.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP000907
      Related
      ENST00000679368.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      112025408..112064404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      112035650..112074647
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)