Lmf1 MGI Mouse Gene Detail - MGI:1923733 - lipase maturation factor 1

Symbol

Lmf1
Name

lipase maturation factor 1
Synonyms

2400010G15Rik, cld, Tmem112

Feature Type

protein coding gene
IDs

MGI:1923733
NCBI Gene: 76483
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr17:25798059-25881800 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 12.70 cM, cytoband A3.3
Mapping Data

6 experiments

SNPs within 2kb

2132 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923733	protein coding gene	Chr17:25798059-25886381 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023359	protein coding gene	Chr17:24659578-24752183 (+)
A/J	MGP_AJ_G0023318	protein coding gene	Chr17:23951205-24034342 (+)
AKR/J	MGP_AKRJ_G0023284	protein coding gene	Chr17:24053254-24138647 (+)
BALB/cJ	MGP_BALBcJ_G0023323	protein coding gene	Chr17:24174384-24258967 (+)
C3H/HeJ	MGP_C3HHeJ_G0023083	protein coding gene	Chr17:24432169-24519287 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023765	protein coding gene	Chr17:25717373-25802792 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021241	protein coding gene	Chr17:21416763-21497102 (+)
CAST/EiJ	MGP_CASTEiJ_G0022585	protein coding gene	Chr17:24305006-24390389 (+)
CBA/J	MGP_CBAJ_G0023058	protein coding gene	Chr17:26609966-26702908 (+)
DBA/2J	MGP_DBA2J_G0023188	protein coding gene	Chr17:23549387-23636294 (+)
FVB/NJ	MGP_FVBNJ_G0023158	protein coding gene	Chr17:23270956-23361877 (+)
LP/J	MGP_LPJ_G0023265	protein coding gene	Chr17:24951653-25045557 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023177	protein coding gene	Chr17:26240968-26328802 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023805	protein coding gene	Chr17:24353566-24442438 (+)
PWK/PhJ	MGP_PWKPhJ_G0022334	protein coding gene	Chr17:22305033-22394277 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022152	protein coding gene	Chr17:22433145-22519237 (+)
WSB/EiJ	MGP_WSBEiJ_G0022648	protein coding gene	Chr17:24419333-24506487 (+)

Human Ortholog

LMF1, lipase maturation factor 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

LMF1, lipase maturation factor 1
Synonyms

C16orf26, HMFN1876, JFP11, TMEM112, TMEM112A
Links

HGNC:14154

NCBI Gene ID: 64788

neXtProt AC: NX_Q96S06

UniProt: Q96S06
Chr Location

16p13.3

MGI Vertebrate Homology

Lmf1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: LMF1
Gene Tree

Lmf1

Diseases

1 with human LMF1 associations

				Human Disease	Mouse Models
				familial lipase maturation factor 1 deficiency IDs familial lipase maturation factor 1 deficiency DOID:0111422 OMIM:246650 ORDO:535453

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

17 phenotypes from 3 alleles in 4 genetic backgrounds
23 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

7
Endonuclease-mediated

2
Gene trapped

1
Radiation induced

2
Spontaneous

1
Targeted

1
Genomic Mutations

2 involving Lmf1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia.

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All GO Annotations

14
GO References

10

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

753
Tissues

41
cDNA Data

14
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

67
RefSeq

9
UniProt

6
CCDS

CCDS37502.2

Ensembl

ENSMUSG00000002279 (Evidence)
NCBI Gene

76483

			Length	Strain/Species	Flank
genomic	ENSMUSG00000002279	Ensembl Gene Model \| MGI Sequence Detail	83742	C57BL/6J	± kb
transcript	ENSMUST00000116641	Ensembl \| MGI Sequence Detail	1858	Not Applicable
polypeptide	ENSMUSP00000112340	Ensembl \| MGI Sequence Detail	574	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000009856 lipase maturation factor 1

(term hierarchy)
InterPro Domains

IPR009613 Lipase maturation factor
GlyGen

Q3U3R4 1 site, 1 O-linked glycan (1 site)

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All nucleic 19

cDNA 15

Primer pair 4

Microarray probesets 3

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MGD-MRK-2009, MGI:2147103, MGI:88418

Summaries

All 52

Developmental Gene Expression 3

Gene Ontology 10

Phenotypes 23
Earliest

J:7083 Paterniti JR Jr, et al., Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse. Science. 1983 Jul 8;221(4606):167-9
Latest

J:320890 Mao HZ, et al., Lipase maturation factor 1 (lmf1) is induced by endoplasmic reticulum stress through activating transcription factor 6alpha (Atf6alpha) signaling. J Biol Chem. 2014 Aug 29;289(35):24417-27

TSS for Lmf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143168	Chr17:25798135-25798183 (+)	100 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 12/10/2024 MGI 6.24