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Gene: LMBRD1 (LMBR1 domain containing 1) Homo sapiens
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Symbol: LMBRD1
Name: LMBR1 domain containing 1
Description: Predicted to have ATPase-coupled vitamin B12 transmembrane transporter activity. Predicted to be involved in insulin receptor internalization; negative regulation of glucose import; and negative regulation of signal transduction. Localizes to membrane. Implicated in methylmalonic aciduria and homocystinuria type cblF.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bA810I22.1; C6orf209; cblF; FLJ11240; FLJ11854; HDAg-L-interacting protein NESI; hepatitis delta antigen-L interacting protein; liver regeneration p-53 related protein; LMBD1; LMBR1 domain-containing protein 1; lysosomal cobalamin transport escort protein LMBD1; MAHCF; NESI; nuclear export signal-interacting protein; probable lysosomal cobalamin transporter; RP11-810I22.1
Orthologs:
Mus musculus (house mouse) : Lmbrd1 (LMBR1 domain containing 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Lmbrd1 (LMBR1 domain containing 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Lmbrd1 (LMBR1 domain containing 1)
Pan paniscus (bonobo/pygmy chimpanzee) : LMBRD1 (LMBR1 domain containing 1)
Canis lupus familiaris (dog) : LMBRD1 (LMBR1 domain containing 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Lmbrd1 (LMBR1 domain containing 1)
Sus scrofa (pig) : LMBRD1 (LMBR1 domain containing 1)
Chlorocebus sabaeus (African green monkey) : LMBRD1 (LMBR1 domain containing 1)
Heterocephalus glaber (naked mole-rat) : Lmbrd1 (LMBR1 domain containing 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl669,672,757 - 69,867,236 (-)EnsemblGRCh38hg38GRCh38
GRCh38669,674,010 - 69,797,010 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37670,385,641 - 70,507,049 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36670,442,470 - 70,563,609 (-)NCBINCBI36hg18NCBI36
Build 34670,442,470 - 70,563,609NCBI
Celera670,774,043 - 70,895,462 (-)NCBI
Cytogenetic Map6q13NCBI
HuRef667,576,549 - 67,697,877 (-)NCBIHuRef
CHM1_1670,551,896 - 70,673,235 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on LMBRD1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 733977
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.