Ldah MGI Mouse Gene Detail - MGI:1916082 - lipid droplet associated hydrolase

Symbol

Ldah
Name

lipid droplet associated hydrolase
Synonyms

1110057K04Rik

Feature Type

protein coding gene
IDs

MGI:1916082
NCBI Gene: 68832
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr12:8258107-8335759 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 3.85 cM
Mapping Data

2 experiments

SNPs within 2kb

2162 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916082	protein coding gene	Chr12:8258095-8350811 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019582	protein coding gene	Chr12:5238034-5319796 (+)
A/J	MGP_AJ_G0019549	protein coding gene	Chr12:5103612-5180069 (+)
AKR/J	MGP_AKRJ_G0019519	protein coding gene	Chr12:5435431-5519375 (+)
BALB/cJ	MGP_BALBcJ_G0019524	protein coding gene	Chr12:5180366-5255433 (+)
C3H/HeJ	MGP_C3HHeJ_G0019330	protein coding gene	Chr12:5216017-5306482 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019973	protein coding gene	Chr12:5378601-5459139 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017598	protein coding gene	Chr12:4900913-4984667 (+)
CAST/EiJ	MGP_CASTEiJ_G0018885	protein coding gene	Chr12:5258731-5344357 (+)
CBA/J	MGP_CBAJ_G0019301	protein coding gene	Chr12:5910699-5995549 (+)
DBA/2J	MGP_DBA2J_G0019414	protein coding gene	Chr12:5057216-5134716 (+)
FVB/NJ	MGP_FVBNJ_G0019405	protein coding gene	Chr12:5021112-5100007 (+)
LP/J	MGP_LPJ_G0019485	protein coding gene	Chr12:5288405-5365660 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019438	protein coding gene	Chr12:5712952-5809799 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020012	protein coding gene	Chr12:5206242-5286289 (+)
PWK/PhJ	MGP_PWKPhJ_G0018651	protein coding gene	Chr12:5099916-5181654 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018442	protein coding gene	Chr12:5204059-5286633 (+)
WSB/EiJ	MGP_WSBEiJ_G0018936	protein coding gene	Chr12:5233712-5320894 (+)

Human Ortholog

LDAH, lipid droplet associated hydrolase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

LDAH, lipid droplet associated hydrolase
Synonyms

C2orf43, hLDAH
Links

HGNC:26145

NCBI Gene ID: 60526

neXtProt AC: NX_Q9H6V9

UniProt: Q9H6V9
Chr Location

2p24.1; chr2:20682489-20823130 (-) GRCh38

MGI Vertebrate Homology

Ldah stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: LDAH
Gene Tree

Ldah

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Phenotype Summary

5 phenotypes from 3 alleles in 3 genetic backgrounds
17 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

16
Gene trapped

10
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele are viable and overtly normal with no major alterations in energy balance, glucose homeostasis, cholesterol ester or triacylglycerol metabolism.

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All GO Annotations

17
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

715
Tissues

6
cDNA Data

84
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ldah

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All Sequences

96
RefSeq

20
UniProt

9
CCDS

CCDS25798.1, CCDS49023.1, CCDS88307.1

Ensembl

ENSMUSG00000037669 (Evidence)
NCBI Gene

68832

			Length	Strain/Species	Flank
genomic	ENSMUSG00000037669	Ensembl Gene Model \| MGI Sequence Detail	77653	C57BL/6J	± kb
transcript	ENSMUST00000037383	Ensembl \| MGI Sequence Detail	2737	Not Applicable
polypeptide	ENSMUSP00000042285	Ensembl \| MGI Sequence Detail	326	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000060083 lipid droplet-associated hydrolase

(term hierarchy)
EC

3.1.1.13
InterPro Domains

IPR029058 Alpha/Beta hydrolase fold

IPR019363 Lipid droplet-associated hydrolase
GlyGen

Q8BVA5 1 site, 1 O-linked glycan (1 site)

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All nucleic 84

cDNA 84

Microarray probesets 5

Summaries

All 43

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 17
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Ldah:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr112705	Chr12:8258119-8258161 (+)	33 bp
Tssr112706	Chr12:8258164-8258172 (+)	61 bp
Tssr112707	Chr12:8266602-8266609 (+)	8,499 bp
Tssr112708	Chr12:8266612-8266619 (+)	8,509 bp
Tssr112709	Chr12:8266636-8266666 (+)	8,544 bp
Tssr112710	Chr12:8266670-8266684 (+)	8,570 bp
Tssr112711	Chr12:8270003-8270011 (+)	11,900 bp
Tssr112712	Chr12:8270026-8270033 (+)	11,923 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24