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LIAS lipoic acid synthetase [ Homo sapiens (human) ]

Gene ID: 11019, updated on 4-Jun-2020

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
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. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 5.3), ovary (RPKM 4.0) and 25 other tissues See more
Orthologs

Genomic context

See LIAS in Genome Data Viewer
Location:
4p14
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (39459024..39479506)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39460644..39479273)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene microRNA 5591 Neighboring gene klotho beta Neighboring gene Sharpr-MPRA regulatory region 11886 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

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

Homology

Clone Names

  • MGC23245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
lipoate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipoate synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
lipoyl synthase activity (acting on glycine-cleavage complex H protein IEA
Inferred from Electronic Annotation
more info
 
lipoyl synthase activity (acting on pyruvate dehydrogenase E2 protein) IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
lipoate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipoate biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
protein lipoylation IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide ISS
Inferred from Sequence or Structural Similarity
more info
 
response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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 (2) summary
    PLN02428
    Location:22327
    PLN02428; lipoic acid synthase
    pfam16881
    Location:15111
    LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family
  2. NM_001278591.1NP_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/Swiss-Prot
    O43766
    UniProtKB/TrEMBL
    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_001278592.1NP_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/Swiss-Prot
    O43766
    UniProtKB/TrEMBL
    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
    Related
    ENSP00000261434.4, ENST00000261434.8
    Conserved Domains (2) summary
    pfam16881
    Location:1578
    LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family
    cl26932
    Location:101267
    LipA; Lipoate synthase [Coenzyme transport and metabolism]
  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
    O43766
    UniProtKB/TrEMBL
    A0A024R9W0
    Related
    ENSP00000492260.1, ENST00000640888.2
    Conserved Domains (3) summary
    cd01335
    Location:134330
    Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
    PLN02428
    Location:22370
    PLN02428; lipoic acid synthase
    pfam16881
    Location:15111
    LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM family
  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/Swiss-Prot
    O43766
    Related
    ENSP00000340676.2, ENST00000340169.7
    Conserved Domains (3) summary
    cd01335
    Location:134310
    Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
    pfam04055
    Location:133292
    Radical_SAM; Radical SAM superfamily
    pfam16881
    Location:15111
    LIAS_N; N-terminal domain of lipoyl synthase of Radical_SAM 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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    39459024..39479506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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