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LIAS lipoic acid synthetase [ Homo sapiens (human) ]

Gene ID: 11019, updated on 1-Mar-2024

Summary

Official Symbol
LIASprovided by HGNC
Official Full Name
lipoic acid synthetaseprovided by HGNC
Primary source
HGNC:HGNC:16429
See related
Ensembl:ENSG00000121897 MIM:607031; AllianceGenome:HGNC:16429
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
LS; LAS; LIP1; PDHLD; HGCLAS; HUSSY-01
Summary
The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]
Expression
Ubiquitous expression in testis (RPKM 5.3), ovary (RPKM 4.0) and 25 other tissues See more
Orthologs
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Genomic context

See LIAS in Genome Data Viewer
Location:
4p14
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (39459056..39479506)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (39428708..39449155)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39460676..39481126)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene microRNA 5591 Neighboring gene klotho beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21458 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:39459543-39460293 Neighboring gene Sharpr-MPRA regulatory region 11886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21459 Neighboring gene ribosomal protein L9 Neighboring gene WD repeat domain 5 pseudogene Neighboring gene UDP-glucose 6-dehydrogenase Neighboring gene HNF1 and NFE2L2 motif-containing MPRA enhancers 6 and 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15369

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

Clone Names

  • MGC23245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
enables lipoate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables lipoate synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lipoate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in lipoate biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neural tube closure IEA
Inferred from Electronic Annotation
more info
 
involved_in response to lipopolysaccharide ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
lipoyl synthase, mitochondrial
Names
lip-syn
lipoate synthase
NP_001265519.1
NP_001265520.1
NP_001265521.1
NP_001350629.1
NP_006850.2
NP_919433.1

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_032111.1 RefSeqGene

    Range
    5012..25462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278590.2NP_001265519.1  lipoyl synthase, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC021148, AK026289, AK292238, AL528262, BC023635
    Consensus CDS
    CCDS63950.1
    UniProtKB/Swiss-Prot
    O43766
    Related
    ENSP00000371270.1, ENST00000381846.2
    Conserved Domains (1) summary
    PLN02428
    Location:22327
    PLN02428; lipoic acid synthase
  2. NM_001278591.2NP_001265520.1  lipoyl synthase, mitochondrial isoform 4 precursor

    See identical proteins and their annotated locations for NP_001265520.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (4) is much shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK292238, BF434814
    Consensus CDS
    CCDS87217.1
    UniProtKB/TrEMBL
    A0A1W2PQS9, Q6P5Q6
    Related
    ENSP00000491086.1, ENST00000424936.6
    Conserved Domains (1) summary
    pfam16881
    Location:15111
    LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family
  3. NM_001278592.2NP_001265521.1  lipoyl synthase, mitochondrial isoform 5 precursor

    See identical proteins and their annotated locations for NP_001265521.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (5) is much shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI373464, AK292238
    Consensus CDS
    CCDS87220.1
    UniProtKB/TrEMBL
    A0A1W2PQ87, B4E0L7
    Related
    ENSP00000492833.1, ENST00000509519.5
    Conserved Domains (1) summary
    pfam16881
    Location:1573
    LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family
  4. NM_001363700.2NP_001350629.1  lipoyl synthase, mitochondrial isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks three alternate coding exons compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC021148
    Consensus CDS
    CCDS87218.1
    UniProtKB/TrEMBL
    A0A1X7SBR7, D6RCP8
    Related
    ENSP00000261434.4, ENST00000261434.8
    Conserved Domains (2) summary
    PLN02428
    Location:101267
    PLN02428; lipoic acid synthase
    pfam16881
    Location:1573
    LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family
  5. NM_006859.4NP_006850.2  lipoyl synthase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_006850.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC021148, AK026289, AK292238, BC023635
    Consensus CDS
    CCDS3453.1
    UniProtKB/Swiss-Prot
    A8K873, C9JCF6, O43766, Q8IV62
    UniProtKB/TrEMBL
    A0A1W2PPM2
    Related
    ENSP00000492260.1, ENST00000640888.2
    Conserved Domains (1) summary
    PLN02428
    Location:22370
    PLN02428; lipoic acid synthase
  6. NM_194451.3NP_919433.1  lipoyl synthase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_919433.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC021148, AK026289, AK292238, BC023635
    Consensus CDS
    CCDS3454.1
    UniProtKB/TrEMBL
    A0A1W2PNQ5
    Related
    ENSP00000340676.2, ENST00000340169.7
    Conserved Domains (1) summary
    PLN02428
    Location:22319
    PLN02428; lipoic acid synthase

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    39459056..39479506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    39428708..39449155
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)