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MBOAT7 membrane bound O-acyltransferase domain containing 7 [ Homo sapiens (human) ]

Gene ID: 79143, updated on 16-Feb-2020

Summary

Official Symbol
MBOAT7provided by HGNC
Official Full Name
membrane bound O-acyltransferase domain containing 7provided by HGNC
Primary source
HGNC:HGNC:15505
See related
Ensembl:ENSG00000125505 MIM:606048
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
BB1; LRC4; LENG4; LPIAT; LPLAT; MBOA7; MRT57; OACT7; hMBOA-7
Summary
This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in testis (RPKM 19.3), adrenal (RPKM 15.7) and 25 other tissues See more
Orthologs

Genomic context

See MBOAT7 in Genome Data Viewer
Location:
19q13.42
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (54173412..54189882, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54677106..54693733, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CCR4-NOT transcription complex subunit 3 Neighboring gene leukocyte receptor cluster member 1 Neighboring gene transmembrane channel like 4 Neighboring gene uncharacterized LOC112268246 Neighboring gene tRNA splicing endonuclease subunit 34 Neighboring gene ribosomal protein S9

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
Mental retardation, autosomal recessive 57
MedGen: C4310673 OMIM: 617188 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41296

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-acylglycerol-3-phosphate O-acyltransferase activity TAS
Traceable Author Statement
more info
 
2-acylglycerol-3-phosphate O-acyltransferase activity TAS
Traceable Author Statement
more info
 
lysophospholipid acyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
layer formation in cerebral cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol acyl-chain remodeling TAS
Traceable Author Statement
more info
 
phospholipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
ventricular system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Mitochondria-associated ER Membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
lysophospholipid acyltransferase 7
Names
1-acylglycerophosphatidylinositol O-acyltransferase
LPLAT 7
bladder and breast carcinoma-overexpressed gene 1 protein
h-mboa-7
leukocyte receptor cluster (LRC) member 4
lyso-PI acyltransferase
lysophosphatidylinositol acyltransferase
malignant cell expression-enhanced gene/tumor progression-enhanced
NP_001139528.1
NP_001139554.1
NP_001139555.1
NP_077274.3
XP_011525601.1
XP_011525602.1
XP_016882785.1

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_033045.2 RefSeqGene

    Range
    5296..21461
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146056.3NP_001139528.1  lysophospholipid acyltransferase 7 isoform 2

    See identical proteins and their annotated locations for NP_001139528.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AI032483, AK298689, BQ045276, DA338950
    Consensus CDS
    CCDS54315.1
    UniProtKB/Swiss-Prot
    Q96N66
    Related
    ENSP00000344377.5, ENST00000338624.10
    Conserved Domains (1) summary
    cl00738
    Location:55361
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  2. NM_001146082.3NP_001139554.1  lysophospholipid acyltransferase 7 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding region, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC245052, AK055908, BC003164, CB240899, DA338950
    Consensus CDS
    CCDS54316.1
    UniProtKB/Swiss-Prot
    Q96N66
    Related
    ENSP00000375634.1, ENST00000391754.5
    Conserved Domains (1) summary
    cl00738
    Location:2333
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  3. NM_001146083.2NP_001139555.1  lysophospholipid acyltransferase 7 isoform 2

    See identical proteins and their annotated locations for NP_001139555.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AI032483, BC015857, BQ045276, DA338950
    Consensus CDS
    CCDS54315.1
    UniProtKB/Swiss-Prot
    Q96N66
    Related
    ENSP00000410503.2, ENST00000431666.6
    Conserved Domains (1) summary
    cl00738
    Location:55361
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  4. NM_024298.5NP_077274.3  lysophospholipid acyltransferase 7 isoform 1

    See identical proteins and their annotated locations for NP_077274.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI032483, AK055908, BC003164, BQ045276, DA338950
    Consensus CDS
    CCDS12883.1
    UniProtKB/Swiss-Prot
    Q96N66
    Related
    ENSP00000245615.1, ENST00000245615.6
    Conserved Domains (1) summary
    cl00738
    Location:2431
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    54173412..54189882 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527299.3XP_011525601.1  lysophospholipid acyltransferase 7 isoform X1

    See identical proteins and their annotated locations for XP_011525601.1

    UniProtKB/Swiss-Prot
    Q96N66
    Conserved Domains (1) summary
    cl00738
    Location:2431
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  2. XM_011527300.2XP_011525602.1  lysophospholipid acyltransferase 7 isoform X1

    See identical proteins and their annotated locations for XP_011525602.1

    UniProtKB/Swiss-Prot
    Q96N66
    Conserved Domains (1) summary
    cl00738
    Location:2431
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  3. XM_017027296.2XP_016882785.1  lysophospholipid acyltransferase 7 isoform X2

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    148184..164679 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    148220..164847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    148220..164847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    148220..164847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    148220..164847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    148220..164847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    148190..164846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p13 ALT_REF_LOCI_8

    Range
    148220..164847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p13 ALT_REF_LOCI_9

    Range
    148220..164847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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