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

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; 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

Location:: 11q13.4

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (74490519..74493724, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (74419953..74423157, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (74201564..74204769, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The authors report on the identification of biallelic LIPT2 mutations in three affected individuals from two families with severe neonatal encephalopathy where a normalization of lipoylation was observed after expression of wild-type LIPT2, arguing for LIPT2 requirement in intramitochondrial lipoate synthesis.
Title: Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 carboxylic acid metabolic process	TAS Traceable Author Statement more info
involved_in positive regulation of oxygen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein lipoylation	IBA Inferred from Biological aspect of Ancestor more info
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
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

EC 2.3.1.181

NP_001316870.1

EC 2.3.1.181

NP_001316871.1

EC 2.3.1.181

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

NG_051333.1 RefSeqGene

Range

4990..8195

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1089

mRNA and Protein(s)

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
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
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