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LDAH lipid droplet associated hydrolase [ Homo sapiens (human) ]

Gene ID: 60526, updated on 7-Jun-2020

Summary

Official Symbol
LDAHprovided by HGNC
Official Full Name
lipid droplet associated hydrolaseprovided by HGNC
Primary source
HGNC:HGNC:26145
See related
Ensembl:ENSG00000118961 MIM:613570
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hLDAH; C2orf43
Expression
Ubiquitous expression in adrenal (RPKM 4.0), urinary bladder (RPKM 3.6) and 25 other tissues See more
Orthologs

Genomic context

See LDAH in Genome Data Viewer
Location:
2p24.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (20682489..20823139, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20883788..21022890, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene HCLS1 binding protein 3 Neighboring gene uncharacterized LOC105373466 Neighboring gene growth differentiation factor 7 Neighboring gene long intergenic non-protein coding RNA 2850 Neighboring gene APOB 3' scaffold/matrix attachment region (S/MAR) Neighboring gene apolipoprotein B

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

Phenotypes

NHGRI GWAS Catalog

Description
Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.
NHGRI GWA Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11610, FLJ21820

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid storage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
lipid droplet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid droplet ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
lipid droplet-associated hydrolase
Names
UPF0554 protein C2orf43
lipid droplet-associated serine hydrolase

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.

mRNA and Protein(s)

  1. NM_001282719.1NP_001269648.1  lipid droplet-associated hydrolase isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an alternate exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AC012065, AC012361, AK299555, AW243875, DC421670
    Consensus CDS
    CCDS74488.1
    UniProtKB/TrEMBL
    A0A0A0MSH6, B4DS38
    Related
    ENSP00000388635.3, ENST00000435420.6
    Conserved Domains (1) summary
    pfam10230
    Location:58261
    DUF2305; uncharacterized conserved protein (DUF2305)
  2. NM_001282720.2NP_001269649.1  lipid droplet-associated hydrolase isoform c

    See identical proteins and their annotated locations for NP_001269649.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AC012065, AC012361, AK316310, AW243875
    Consensus CDS
    CCDS62865.1
    UniProtKB/Swiss-Prot
    Q9H6V9
    Related
    ENSP00000487592.1, ENST00000626491.2
    Conserved Domains (1) summary
    pfam10230
    Location:52255
    DUF2305; uncharacterized conserved protein (DUF2305)
  3. NM_001282721.1NP_001269650.1  lipid droplet-associated hydrolase isoform d

    See identical proteins and their annotated locations for NP_001269650.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream in-frame translational start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Both variants 4 and 5 encode isoform d.
    Source sequence(s)
    AC012065, AK316162, AW243875, DC421670
    Consensus CDS
    CCDS62864.1
    UniProtKB/Swiss-Prot
    Q9H6V9
    Related
    ENSP00000440570.1, ENST00000541941.5
    Conserved Domains (1) summary
    cl21494
    Location:1173
    Abhydrolase; alpha/beta hydrolases
  4. NM_001282722.1NP_001269651.1  lipid droplet-associated hydrolase isoform d

    See identical proteins and their annotated locations for NP_001269651.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream in-frame translational start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Both variants 4 and 5 encode isoform d.
    Source sequence(s)
    AC012065, AK316204, AW243875, DC421670
    Consensus CDS
    CCDS62864.1
    UniProtKB/Swiss-Prot
    Q9H6V9
    Related
    ENSP00000483067.1, ENST00000619656.4
    Conserved Domains (1) summary
    cl21494
    Location:1173
    Abhydrolase; alpha/beta hydrolases
  5. NM_001282723.1NP_001269652.1  lipid droplet-associated hydrolase isoform e

    See identical proteins and their annotated locations for NP_001269652.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (e) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC012065, AK299244, AW243875, DC421670
    Consensus CDS
    CCDS74489.1
    UniProtKB/TrEMBL
    B4DRG3
    Related
    ENSP00000400340.2, ENST00000440866.6
    Conserved Domains (1) summary
    cl21494
    Location:43154
    Abhydrolase; alpha/beta hydrolases
  6. NM_001282724.2NP_001269653.1  lipid droplet-associated hydrolase isoform f

    See identical proteins and their annotated locations for NP_001269653.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate in-frame splice site and lacks an alternate exon in the 5' coding region, and lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (f) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC012065, AC012361, AK301493, AW243875
    UniProtKB/TrEMBL
    B4DWE2
    Conserved Domains (1) summary
    cl21494
    Location:58112
    Abhydrolase; alpha/beta hydrolases
  7. NM_021925.4NP_068744.1  lipid droplet-associated hydrolase isoform a

    See identical proteins and their annotated locations for NP_068744.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC012065, AW243875, BC017473, DC421670
    Consensus CDS
    CCDS1702.1
    UniProtKB/Swiss-Prot
    Q9H6V9
    Related
    ENSP00000237822.3, ENST00000237822.8
    Conserved Domains (2) summary
    COG0596
    Location:47319
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    pfam10230
    Location:43303
    DUF2305; uncharacterized conserved protein (DUF2305)

RNA

  1. NR_104233.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an internal exon in both the 5' and central regions, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC012065, AK300494, AW243875, DC421670

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    20682489..20823139 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533014.2XP_011531316.1  lipid droplet-associated hydrolase isoform X1

    See identical proteins and their annotated locations for XP_011531316.1

    UniProtKB/Swiss-Prot
    Q9H6V9
    Conserved Domains (2) summary
    COG0596
    Location:58325
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    pfam10230
    Location:43309
    DUF2305; uncharacterized conserved protein (DUF2305)

RNA

  1. XR_001738874.1 RNA Sequence

  2. XR_939702.3 RNA Sequence

  3. XR_001738875.2 RNA Sequence

  4. XR_001738879.2 RNA Sequence

  5. XR_001738877.2 RNA Sequence

  6. XR_001738878.2 RNA Sequence

  7. XR_939701.2 RNA Sequence

  8. XR_939700.2 RNA Sequence

  9. XR_001738876.2 RNA Sequence

  10. XR_939703.2 RNA Sequence

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