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    LIPT1 lipoyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 51601, updated on 5-Mar-2024

    Summary

    Official Symbol
    LIPT1provided by HGNC
    Official Full Name
    lipoyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:29569
    See related
    Ensembl:ENSG00000144182 MIM:610284; AllianceGenome:HGNC:29569
    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
    LIPT1D
    Summary
    The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011]
    Expression
    Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LIPT1 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (99154967..99163137)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (99613838..99622016)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (99771430..99779600)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene testis specific 10 Neighboring gene SMC3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:99758101-99758907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:99771037-99771658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16277 Neighboring gene chromosome 2 open reading frame 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16280 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:99797856-99798028 Neighboring gene microtubule interacting and trafficking domain containing 1 Neighboring gene mitochondrial ribosomal protein L30 Neighboring gene lysozyme g2

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Lipoyl transferase 1 deficiency
    MedGen: C4225379 OMIM: 616299 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC12290, MGC13378

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables lipoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lipoyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carboxylic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein lipoylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein modification process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    lipoyl amidotransferase LIPT1, mitochondrial
    Names
    lipoate biosynthesis protein
    lipoyl ligase
    lipoyltransferase 1, mitochondrial
    NP_001191759.1
    NP_057013.1
    NP_660198.1
    NP_660199.1
    NP_660200.1

    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_050665.1 RefSeqGene

      Range
      5013..13183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001204830.2NP_001191759.1  lipoyl amidotransferase LIPT1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001191759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 5'-most non-coding exon, compared to variant 1. Variants 1 and 3-6 all encode the same protein.
      Source sequence(s)
      BC009772, BG717409, BX100979, DA607268
      Consensus CDS
      CCDS2039.1
      UniProtKB/Swiss-Prot
      Q4ZFZ1, Q9Y234
      Conserved Domains (1) summary
      cd16443
      Location:33235
      LplA; lipoate-protein ligase
    2. NM_015929.4NP_057013.1  lipoyl amidotransferase LIPT1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_057013.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the same protein as variants 3-6.
      Source sequence(s)
      AB017566, BC070145
      Consensus CDS
      CCDS2039.1
      UniProtKB/Swiss-Prot
      Q4ZFZ1, Q9Y234
      Related
      ENSP00000377115.2, ENST00000393473.6
      Conserved Domains (1) summary
      cd16443
      Location:33235
      LplA; lipoate-protein ligase
    3. NM_145197.3NP_660198.1  lipoyl amidotransferase LIPT1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_660198.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as transcript C, contains an additional exon in the 5' UTR, compared to variant 1. Variants 1 and 3-6 all encode the same protein. There are no publicly available transcripts representing this variant; it is supported by data in PMID:10103005.
      Source sequence(s)
      AB017566, AC092587, BC070145
      Consensus CDS
      CCDS2039.1
      UniProtKB/Swiss-Prot
      Q4ZFZ1, Q9Y234
      Conserved Domains (1) summary
      cd16443
      Location:33235
      LplA; lipoate-protein ligase
    4. NM_145198.3NP_660199.1  lipoyl amidotransferase LIPT1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_660199.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), also known as transcript D, contains an additional exon in the 5' UTR, compared to variant 1. Variants 1 and 3-6 all encode the same protein. There are no publicly available transcripts representing this variant; it is supported by data in PMID:10103005.
      Source sequence(s)
      AB017566, AC092587, BC070145
      Consensus CDS
      CCDS2039.1
      UniProtKB/Swiss-Prot
      Q4ZFZ1, Q9Y234
      Conserved Domains (1) summary
      cd16443
      Location:33235
      LplA; lipoate-protein ligase
    5. NM_145199.3NP_660200.1  lipoyl amidotransferase LIPT1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_660200.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an exon in the 5' UTR, compared to variant 1. Variants 1 and 3-6 all encode the same protein.
      Source sequence(s)
      AB017566, BC070145
      Consensus CDS
      CCDS2039.1
      UniProtKB/Swiss-Prot
      Q4ZFZ1, Q9Y234
      Related
      ENSP00000498546.1, ENST00000651691.1
      Conserved Domains (1) summary
      cd16443
      Location:33235
      LplA; lipoate-protein ligase

    RNA

    1. NR_037935.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate 5'-most exon and contains an additional exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is expected to interfere with translation of the supported ORF, as found in variant 1.
      Source sequence(s)
      BC009772, BQ432795, BX100979, DA607268
    2. NR_037936.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as transcript B, uses an alternate second exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is expected to interfere with translation of the supported ORF, as found in variant 1.
      Source sequence(s)
      AB017566, BC009772, BQ422048, BX100979

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      99154967..99163137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      99613838..99622016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145196.2: Suppressed sequence

      Description
      NM_145196.2: This RefSeq was permanently suppressed because the annotated coding sequence is unlikely to be translated due to interference from an inhibitory upstream ORF.