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

Gene ID: 387787, updated on 1-Jun-2020

Summary

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
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

Genomic context

See LIPT2 in Genome Data Viewer
Location:
11q13.4
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (74490519..74493724, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (74202923..74204755, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene probable ribosome biogenesis protein RLP24 pseudogene Neighboring gene uncharacterized LOC100287896 Neighboring gene CYCS pseudogene 27 Neighboring gene uncharacterized LOC105369386 Neighboring gene DNA polymerase delta 3, accessory subunit Neighboring gene RAN pseudogene 3

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

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ligase activity IEA
Inferred from Electronic Annotation
more info
 
lipoyl(octanoyl) transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipoyl(octanoyl) transferase activity TAS
Traceable Author Statement
more info
 
octanoyl transferase activity (acting on glycine-cleavage complex H protein) IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
positive regulation of oxygen metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein lipoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein lipoylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

  1. NM_001144869.3NP_001138341.1  putative lipoyltransferase 2, 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:3227
    BPL_LplA_LipB; Biotin/lipoate A/B protein ligase family
  2. NM_001329941.2NP_001316870.1  putative lipoyltransferase 2, 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:3158
    BPL_LplA_LipB; Biotin/lipoate A/B protein ligase family
  3. NM_001329942.2NP_001316871.1  putative lipoyltransferase 2, 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:764
    BPL_LplA_LipB; biotin-lipoate ligase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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