LMBRD1 (LMBR1 domain containing 1)

2014-07-01  

Identity

HGNC
LMBRD1
LOCATION
6q13
LOCUSID
55788
ALIAS
C6orf209,LMBD1,MAHCF,NESI
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55788
MIM: 612625
HGNC: 23038
Ensembl: ENSG00000168216

Variants:

dbSNP: 55788
ClinVar: 55788
TCGA: ENSG00000168216
COSMIC: LMBRD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168216ENST00000370570Q9NUN5
ENSG00000168216ENST00000472827A0A3F2YP66
ENSG00000168216ENST00000647650A0A3B3ITM4
ENSG00000168216ENST00000647669A0A3B3IRL1
ENSG00000168216ENST00000647964Q9NUN5
ENSG00000168216ENST00000648168Q9NUN5
ENSG00000168216ENST00000648303A0A3B3IU91
ENSG00000168216ENST00000648394Q9NUN5
ENSG00000168216ENST00000648635A0A3B3IS99
ENSG00000168216ENST00000648743Q9NUN5
ENSG00000168216ENST00000649011A0A3B3IT31
ENSG00000168216ENST00000649028Q9NUN5
ENSG00000168216ENST00000649054A0A3B3IRS7
ENSG00000168216ENST00000649057A0A3B3IT65
ENSG00000168216ENST00000649166A0A3B3IRN0
ENSG00000168216ENST00000649673A0A3B3ITP2
ENSG00000168216ENST00000649679Q9NUN5
ENSG00000168216ENST00000649795A0A3B3IU99
ENSG00000168216ENST00000649918Q9NUN5
ENSG00000168216ENST00000649934Q9NUN5
ENSG00000168216ENST00000649958A0A3B3ITR7
ENSG00000168216ENST00000649970A0A3B3IU68
ENSG00000168216ENST00000650035Q9NUN5
ENSG00000168216ENST00000650107Q9NUN5
ENSG00000168216ENST00000650124A0A3B3ITR7
ENSG00000168216ENST00000650473A0A3B3IS10
ENSG00000168216ENST00000651675A0A494C126

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
285725112017Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1.11
285725112017Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1.11
274569802016Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.15
274569802016Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.15
255357912014Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.11
255357912014Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.11
231753582013Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen.5
240786302013LMBD1 protein serves as a specific adaptor for insulin receptor internalization.17
231753582013Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen.5
240786302013LMBD1 protein serves as a specific adaptor for insulin receptor internalization.17
204461152011LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.12
213037342011Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.7
204461152011LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.12
213037342011Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.7
201274172010A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.11

Citation

Dessen P

LMBRD1 (LMBR1 domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54068