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    LIPT2 lipoyl(octanoyl) transferase 2 [ Homo sapiens (human) ]

    Gene ID: 387787, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LIPT2provided by HGNC
    Official Full Name
    lipoyl(octanoyl) transferase 2provided by HGNC
    Primary source
    HGNC:HGNC:37216
    See related
    Ensembl:ENSG00000175536 MIM:617659; AllianceGenome:HGNC:37216
    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
    Summary
    This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
    Expression
    Ubiquitous expression in testis (RPKM 2.4), kidney (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LIPT2 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (74490519..74493724, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (74419953..74423157, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (74201564..74204769, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene probable ribosome biogenesis protein RLP24 Neighboring gene CYCS pseudogene 27 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3754 Neighboring gene LIPT2 antisense RNA 1 Neighboring gene uncharacterized LOC124902712 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:74249649-74250198 Neighboring gene uncharacterized LOC105369386

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death. Bernardinelli E, et al. PLoS One, 2017. PMID 28628643, Free PMC Article
    2. Lipoic acid biosynthesis defects. Mayr JA, et al. J Inherit Metab Dis, 2014 Jul. PMID 24777537
    3. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. Habarou F, et al. Am J Hum Genet, 2017 Aug 3. PMID 28757203, Free PMC Article
    4. Human chromosome 11 DNA sequence and analysis including novel gene identification. Taylor TD, et al. Nature, 2006 Mar 23. PMID 16554811
    5. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
    MedGen: C4540052 OMIM: 617668 GeneReviews: Not available
    		Compare labs

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipoyl(octanoyl) transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipoyl(octanoyl) transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables lipoyl(octanoyl) transferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of oxygen metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein lipoylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial
    Names
    lipoate-protein ligase B
    lipoyl(octanoyl) transferase 2 (putative)
    lipoyltransferase 2
    octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase
    putative lipoyltransferase 2, mitochondrial
    putative octanoyltransferase, mitochondrial
    NP_001138341.1
    NP_001316870.1
    NP_001316871.1

    NCBI Reference Sequences (RefSeq)

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    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_051333.1 RefSeqGene

      Range
      4990..8195
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1089

    mRNA and Protein(s)

    1. NM_001144869.3 → NP_001138341.1  octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001138341.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP001372, CX752266, HY025586
      Consensus CDS
      CCDS44679.1
      UniProtKB/Swiss-Prot
      A6NK58
      Related
      ENSP00000309463.4, ENST00000310109.5
      Conserved Domains (1) summary
      cl14057
      Location:3 → 227
      BPL_LplA_LipB; Biotin/lipoate A/B protein ligase family

    2. NM_001329941.2 → NP_001316870.1  octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter, distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AP001372
      Conserved Domains (1) summary
      cl14057
      Location:3 → 158
      BPL_LplA_LipB; Biotin/lipoate A/B protein ligase family

    3. NM_001329942.2 → NP_001316871.1  octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a shorter, distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AP001372, DY654619, HY025586
      Conserved Domains (1) summary
      cl25365
      Location:7 → 64
      BPL_LplA_LipB; biotin-lipoate ligase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      74490519..74493724 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      74419953..74423157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NK58.1 GenPept UniProtKB/Swiss-Prot:A6NK58

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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