FLVCR1 (FLVCR heme transporter 1)

2004-02-01  

Identity

HGNC
FLVCR1
LOCATION
1q32.3
LOCUSID
28982
ALIAS
AXPC1,FLVCR,MFSD7B,PCA,PCARP,SLC49A1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 28982
MIM: 609144
HGNC: 24682
Ensembl: ENSG00000162769

Variants:

dbSNP: 28982
ClinVar: 28982
TCGA: ENSG00000162769
COSMIC: FLVCR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162769ENST00000366971Q9Y5Y0
ENSG00000162769ENST00000419102H7C3Z2

Expression (GTEx)

0
5
10
15
20
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937

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
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
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
386932652024Structural basis of lipid head group entry to the Kennedy pathway by FLVCR1.2
387781002024Molecular mechanism of choline and ethanolamine transport in humans.1
386932652024Structural basis of lipid head group entry to the Kennedy pathway by FLVCR1.2
387781002024Molecular mechanism of choline and ethanolamine transport in humans.1
380550602023Mfsd7b facilitates choline transport and missense mutations affect choline transport function.5
380550602023Mfsd7b facilitates choline transport and missense mutations affect choline transport function.5
349314422022Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.3
349314422022Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.3
344333552021Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation.1
344333552021Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation.1
306564742019Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.5
318846122019A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.4
306564742019Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.5
318846122019A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.4
291928082018A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.8

Citation

Dessen P

FLVCR1 (FLVCR heme transporter 1)

Atlas Genet Cytogenet Oncol Haematol. 2004-02-01

Online version: http://atlasgeneticsoncology.org/gene/40613/flvcr1-(flvcr-heme-transporter-1)