ABCD4 (ATP binding cassette subfamily D member 4)

2017-08-01  

Identity

HGNC
ABCD4
LOCATION
14q24.3
LOCUSID
5826
ALIAS
ABC41,EST352188,MAHCJ,P70R,P79R,PMP69,PXMP1L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5826
MIM: 603214
HGNC: 68
Ensembl: ENSG00000119688

Variants:

dbSNP: 5826
ClinVar: 5826
TCGA: ENSG00000119688
COSMIC: ABCD4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119688ENST00000356924O14678
ENSG00000119688ENST00000356924A0A024R6B9
ENSG00000119688ENST00000460308E9PI46
ENSG00000119688ENST00000469672E9PPB6
ENSG00000119688ENST00000470637E9PI46
ENSG00000119688ENST00000474270H0YCY9
ENSG00000119688ENST00000481348H0YJ78
ENSG00000119688ENST00000481935E9PI46
ENSG00000119688ENST00000553486E9PI46
ENSG00000119688ENST00000553745E9PPB6
ENSG00000119688ENST00000553998H0YJX8
ENSG00000119688ENST00000554453G3V3W1
ENSG00000119688ENST00000555617E9PPB6
ENSG00000119688ENST00000555904H0YJ82
ENSG00000119688ENST00000556119E9PPB6
ENSG00000119688ENST00000556517H0YJ78
ENSG00000119688ENST00000556971H0YJL8
ENSG00000119688ENST00000557588G3V4U7

Expression (GTEx)

0
10
20
30
40
50
60
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
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
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
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
vagina
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
bone marrow

References

Pubmed IDYearTitleCitations
337296712021Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.0
337296712021Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.0
306515812019Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.1
314674072019Cryo-EM structure of human lysosomal cobalamin exporter ABCD4.20
306515812019Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.1
314674072019Cryo-EM structure of human lysosomal cobalamin exporter ABCD4.20
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
277662642016ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.26
274569802016Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.15
277662642016ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.26
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
229228742012Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.78

Citation

Dessen P

ABCD4 (ATP binding cassette subfamily D member 4)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56911