Lmbrd1 MGI Mouse Gene Detail - MGI:1915671

Symbol

Lmbrd1
Name

LMBR1 domain containing 1
Synonyms

0910001K20Rik

Feature Type

protein coding gene
IDs

MGI:1915671
NCBI Gene: 68421
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr1:24717711-24805382 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 10.18 cM
Mapping Data

2 experiments

SNPs within 2kb

2762 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1915671	protein coding gene	Chr1:24716073-24805382 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0015891	protein coding gene	Chr1:22544589-22636424 (+)
A/J	MGP_AJ_G0015872	protein coding gene	Chr1:22078803-22161660 (+)
AKR/J	MGP_AKRJ_G0015829	protein coding gene	Chr1:22325039-22408220 (+)
BALB/cJ	MGP_BALBcJ_G0015828	protein coding gene	Chr1:21829009-21914311 (+)
C3H/HeJ	MGP_C3HHeJ_G0015662	protein coding gene	Chr1:22324280-22413234 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016282	protein coding gene	Chr1:23551320-23661631 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014001	protein coding gene	Chr1:20121526-20204967 (+)
CAST/EiJ	MGP_CASTEiJ_G0015241	protein coding gene	Chr1:22430261-22517224 (+)
CBA/J	MGP_CBAJ_G0015634	protein coding gene	Chr1:24117896-24220349 (+)
DBA/2J	MGP_DBA2J_G0015733	protein coding gene	Chr1:21559049-21654267 (+)
FVB/NJ	MGP_FVBNJ_G0015737	protein coding gene	Chr1:21304569-21383314 (+)
LP/J	MGP_LPJ_G0015805	protein coding gene	Chr1:22738935-22831487 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015757	protein coding gene	Chr1:25135124-25236114 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016329	protein coding gene	Chr1:22217371-22306289 (+)
PWK/PhJ	MGP_PWKPhJ_G0015024	protein coding gene	Chr1:21315526-21400942 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014805	protein coding gene	Chr1:22356776-22439241 (+)
WSB/EiJ	MGP_WSBEiJ_G0015304	protein coding gene	Chr1:22173822-22265774 (+)

Human Ortholog

LMBRD1, LMBR1 domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

LMBRD1, LMBR1 domain containing 1
Synonyms

C6orf209, LMBD1, MAHCF, NESI
Links

HGNC:23038

NCBI Gene ID: 55788

neXtProt AC: NX_Q9NUN5

UniProt: Q9NUN5
Chr Location

6q13; chr6:69672757-69867236 (-) GRCh38

MGI Vertebrate Homology

Lmbrd1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: LMBRD1
Gene Tree

Lmbrd1

Diseases

1 with human LMBRD1 associations

				Human Disease	Mouse Models
				methylmalonic aciduria and homocystinuria type cblF IDs methylmalonic aciduria and homocystinuria type cblF DOID:0050717 OMIM:277380

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

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Phenotype Summary

12 phenotypes from 3 alleles in 3 genetic backgrounds
15 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

11
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

1
Targeted

6
Genomic Mutations

1 involving Lmbrd1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice heterozygous for a targeted allele exhibit increased cardiac cell glucose uptake. Mice homozygous for a null allele fail to gastrulate and die between E8.5 and E13.5.

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All GO Annotations

27
GO References

7

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

749
Tissues

21
cDNA Data

21
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase lmbrd1

ZFIN lmbrd1

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All Sequences

69
RefSeq

8
UniProt

4
CCDS

CCDS35528.1, CCDS78556.1

Ensembl

ENSMUSG00000073725 (Evidence)
NCBI Gene

68421

			Length	Strain/Species	Flank
genomic	ENSMUSG00000073725	Ensembl Gene Model \| MGI Sequence Detail	87672	C57BL/6J	± kb
transcript	ENSMUST00000191471	Ensembl \| MGI Sequence Detail	4453	Not Applicable
polypeptide	ENSMUSP00000140783	Ensembl \| MGI Sequence Detail	537	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000032677 lysosomal cobalamin transport escort protein LMBD1

(term hierarchy)
InterPro Domains

IPR006876 LMBR1-like membrane protein

IPR050854 Lysosomal Cobalamin Transport Escort Protein LMBD1
GlyGen

Q8K0B2 8 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 26

cDNA 21

Primer pair 4

Other 1

Microarray probesets 8

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MGI:2138534

Summaries

All 46

Developmental Gene Expression 6

Gene Ontology 7

Phenotypes 15
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 Lmbrd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr6111	Chr1:24717433-24717462 (+)	-263 bp
Tssr6112	Chr1:24717514-24717541 (+)	-183 bp
Tssr6113	Chr1:24717617-24717690 (+)	-57 bp
Tssr6114	Chr1:24717694-24717708 (+)	-10 bp
Tssr6115	Chr1:24717711-24717718 (+)	4 bp
Tssr6116	Chr1:24717722-24717757 (+)	29 bp
Tssr6117	Chr1:24717764-24717775 (+)	59 bp
Tssr6118	Chr1:24717793-24717839 (+)	105 bp
Tssr6119	Chr1:24717969-24718018 (+)	283 bp
Tssr6120	Chr1:24724939-24724964 (+)	7,241 bp
Tssr6121	Chr1:24772882-24772886 (+)	55,173 bp
Tssr6122	Chr1:24792697-24792702 (+)	74,989 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 11/12/2024 MGI 6.24