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LIPT1 lipoyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 51601, updated on 20-Dec-2019

Summary

Official Symbol
LIPT1provided by HGNC
Official Full Name
lipoyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:29569
See related
Ensembl:ENSG00000144182 MIM:610284
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

Genomic context

See LIPT1 in Genome Data Viewer
Location:
2q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (99154967..99163157)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (99771418..99779620)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene testis specific 10 Neighboring gene SMC3 pseudogene 1 Neighboring gene chromosome 2 open reading frame 15 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
Lipoyltransferase 1 deficiency
MedGen: C4225379 OMIM: 616299 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12290, MGC13378

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transferase activity, transferring acyl groups TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
protein lipoylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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_050665.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001204830.1NP_001191759.1  lipoyltransferase 1, 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
    Q9Y234
    Conserved Domains (1) summary
    cd16443
    Location:33235
    LplA; lipoate-protein ligase
  2. NM_015929.4NP_057013.1  lipoyltransferase 1, 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
    Q9Y234
    Related
    ENSP00000377115.2, ENST00000393473.6
    Conserved Domains (1) summary
    cd16443
    Location:33235
    LplA; lipoate-protein ligase
  3. NM_145197.3NP_660198.1  lipoyltransferase 1, 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
    Q9Y234
    Conserved Domains (1) summary
    cd16443
    Location:33235
    LplA; lipoate-protein ligase
  4. NM_145198.3NP_660199.1  lipoyltransferase 1, 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
    Q9Y234
    Conserved Domains (1) summary
    cd16443
    Location:33235
    LplA; lipoate-protein ligase
  5. NM_145199.3NP_660200.1  lipoyltransferase 1, 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
    Q9Y234
    Related
    ENSP00000498546.1, ENST00000651691.1
    Conserved Domains (1) summary
    cd16443
    Location:33235
    LplA; lipoate-protein ligase

RNA

  1. NR_037935.1 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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    99154967..99163157
    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.
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