About   Help   FAQ
Lmbrd1 Gene Detail
Summary
  • Symbol
    Lmbrd1
  • Name
    LMBR1 domain containing 1
  • Synonyms
    0910001K20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915671
    NCBI Gene: 68421
  • Gene Overview
    MyGene.info: LMBRD1
Location & Maps
more
  • Sequence Map
    Chr1:24678630-24766301 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      87672 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 10.18 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    LMBRD1, LMBR1 domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LMBRD1, LMBR1 domain containing 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C6orf209, LMBD1, MAHCF, NESI
  • Links
    NCBI Gene ID: 55788
    neXtProt AC: NX_Q9NUN5

  • Chr Location
    6q13; chr6:69675749-69797157 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human LMBRD1 associations

Human Disease Mouse Models
       Methylmalonic Aciduria and Homocystinuria, CblF Type   OMIM: 277380
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 2 alleles in 2 genetic backgrounds
    8 phenotype references
Phenotype Overview

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
    6
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Lmbrd1
  • Incidental Mutations
Mice heterozygous for a targeted allele exhibit increased cardiac cell glucose uptake.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000046322 VEGA Gene Model | MGI Sequence Detail 87672 C57BL/6J ±  kb
transcript OTTMUST00000120742 VEGA | MGI Sequence Detail 4453 Not Applicable  
polypeptide OTTMUSP00000066757 VEGA | MGI Sequence Detail 537 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    444 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000032677 lysosomal cobalamin transporter
  • InterPro Domains
    IPR006876 LMBR1-like membrane protein
Molecular
Reagents
less
  • All nucleic 20
    cDNA 20

    Microarray probesets 8
Other
Accession IDs
less
MGI:2138534
References
more
  • Summaries
    All 29
    Developmental Gene Expression 2
    Gene Ontology 3
    Phenotypes 8
  • 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:224837 Dutchak PA, et al., Regulation of Hematopoiesis and Methionine Homeostasis by mTORC1 Inhibitor NPRL2. Cell Rep. 2015 Jul 21;12(3):371-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/22/2016
MGI 6.04
The Jackson Laboratory