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This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]
FLVCR1 (FLVCR Heme Transporter 1) is a Protein Coding gene. Diseases associated with FLVCR1 include Posterior Column Ataxia With Retinitis Pigmentosa and Inherited Retinal Disorder. Among its related pathways are Insulin receptor recycling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and heme transporter activity. An important paralog of this gene is FLVCR2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005215 | transporter activity | TAS | 10648427 |
GO:0005515 | protein binding | IPI | 20610401 |
GO:0015232 | heme transporter activity | IMP,TAS | -- |
GO:0020037 | heme binding | IBA | 21873635 |
GO:0051184 | cofactor transmembrane transporter activity | IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005739 | mitochondrion | IDA | 23187127 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 10648427 |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001568 | blood vessel development | IEA | -- |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0006839 | mitochondrial transport | IDA | 23187127 |
GO:0006879 | cellular iron ion homeostasis | TAS | -- |
GO:0007275 | multicellular organism development | TAS | 10648427 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
heme | Pharma | Agonist | 0 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FLVCR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FLVCR1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FLVCR1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mfsd7b 30 31 |
|
OneToOne | |
Flvcr1 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | FLVCR1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FLVCR1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FLVCR1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FLVCR1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | flvcr1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | flvcr1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1424 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1358 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | C09D4.1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636170 | Likely Pathogenic: Stargardt disease | 212,895,014(+) | CAACAT/C | FRAMESHIFT_VARIANT | |
725857 | Likely Benign: not provided | 212,858,977(+) | C/T | SYNONYMOUS_VARIANT | |
735691 | Likely Benign: not provided | 212,858,521(+) | C/T | SYNONYMOUS_VARIANT | |
738292 | Likely Benign: not provided | 212,858,668(+) | C/A | SYNONYMOUS_VARIANT | |
748979 | Likely Benign: not provided | 212,863,754(+) | A/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv571n100 | CNV | gain | 25217958 |
dgv572n100 | CNV | gain | 25217958 |
dgv99n67 | CNV | loss | 20364138 |
esv1413001 | CNV | deletion | 17803354 |
esv2674192 | CNV | deletion | 23128226 |
esv2722517 | CNV | deletion | 23290073 |
esv3546221 | CNV | deletion | 23714750 |
esv3588758 | CNV | loss | 21293372 |
nsv1007129 | CNV | gain | 25217958 |
nsv1008383 | CNV | gain | 25217958 |
nsv1135755 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
posterior column ataxia with retinitis pigmentosa |
|
|
inherited retinal disorder |
|
|
posterior column ataxia |
|
|
fundus dystrophy |
|
|
retinitis |
|
|