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Lmbrd1 Gene Detail
Summary
  • 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
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    2762 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
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 (+)



Homology
more
  • 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
    NCBI Gene ID: 55788
    neXtProt AC: NX_Q9NUN5
    UniProt: Q9NUN5

  • Chr Location
    6q13; chr6:69672757-69867236 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human LMBRD1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 3 alleles in 3 genetic backgrounds
    15 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.
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.
Gene Ontology
(GO)
Classifications
less
  • 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.
Expression
less
Expression Overview

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
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    • 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)
    Molecular
    Reagents
    less
    • All nucleic 26
      cDNA 21
      Primer pair 4
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:2138534
    References
    more
    • 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
    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
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory