FLVCR1
Choline/ethanolamine transporter FLVCR1
Also known as: AXPC1, FLVC1_HUMAN, FLVCR, MFSD7B, PCA, SLC49A1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y5Y0
- Gene
- FLVCR1
- Ensembl
- ENSG00000162769
- Chromosome
- 1
- Canonical length
- 555 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Cell Junctions
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
555 residues, UniProt reviewed canonical sequence.
>Q9Y5Y0|FLVCR1
1 MARPDDEEGA AVAPGHPLAK GYLPLPRGAP VGKESVELQN GPKAGTFPVN GAPRDSLAAA
61 SGVLGGPQTP LAPEEETQAR LLPAGAGAET PGAESSPLPL TALSPRRFVV LLIFSLYSLV
121 NAFQWIQYSI ISNVFEGFYG VTLLHIDWLS MVYMLAYVPL IFPATWLLDT RGLRLTALLG
181 SGLNCLGAWI KCGSVQQHLF WVTMLGQCLC SVAQVFILGL PSRIASVWFG PKEVSTACAT
241 AVLGNQLGTA VGFLLPPVLV PNTQNDTNLL ACNISTMFYG TSAVATLLFI LTAIAFKEKP
301 RYPPSQAQAA LQDSPPEEYS YKKSIRNLFK NIPFVLLLIT YGIMTGAFYS VSTLLNQMIL
361 TYYEGEEVNA GRIGLTLVVA GMVGSILCGL WLDYTKTYKQ TTLIVYILSF IGMVIFTFTL
421 DLRYIIIVFV TGGVLGFFMT GYLPLGFEFA VEITYPESEG TSSGLLNASA QIFGILFTLA
481 QGKLTSDYGP KAGNIFLCVW MFIGIILTAL IKSDLRRHNI NIGITNVDVK AIPADSPTDQ
541 EPKTVMLSKQ SESAILocalizationUniProt · AlphaFold · HPA
Whether an antibody against FLVCR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 12
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- small intestine: 18 nTPM
- duodenum: 9.1 nTPM
- pituitary gland: 6.6 nTPM
- retina: 6.3 nTPM
- cerebellum: 6.1 nTPM
- bone marrow: 5.8 nTPM
Single-cell type
- neutrophil progenitors: 148 nCPM
- gonadotrophs: 124 nCPM
- enterocytes: 114 nCPM
- neuroendocrine cells: 81 nCPM
- adrenal medulla cells: 75 nCPM
- mucous neck cells: 72 nCPM
Immune cell
- eosinophil: 1.5 nTPM
- neutrophil: 0.7 nTPM
- basophil: 0.4 nTPM
- plasmacytoid DC: 0.4 nTPM
- T-reg: 0.4 nTPM
- memory CD4 T-cell: 0.3 nTPM
Brain region
- pons: 16 nTPM
- cerebellum: 15 nTPM
- hypothalamus: 14 nTPM
- medulla oblongata: 14 nTPM
- midbrain: 13 nTPM
- white matter: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FLVCR1.
Disease | AllUniProt
Conditions FLVCR1 is implicated in, by any mechanism.
- Retinopathy-sensory neuropathy syndrome (RETSNS) MIM:609033
- Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia (NEDMISH) MIM:621060
Disease | GeneticClinVar
59 pathogenic / likely-pathogenic of 606 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Posterior column ataxia-retinitis pigmentosa syndrome
- Retinitis pigmentosa
- Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
- Inborn genetic diseases
- Retinal dystrophy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.67
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.85
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- blood vessel development
- choline transport
- embryonic digit morphogenesis
- embryonic skeletal system morphogenesis
- erythrocyte differentiation
- erythrocyte maturation
- head morphogenesis
- heme biosynthetic process
- heme export
- heme transport
- in utero embryonic development
- intracellular iron ion homeostasis
- mitochondrial transport
- multicellular organism growth
- phospholipid biosynthetic process
- regulation of organ growth
- spleen development
Molecular functions
- choline transmembrane transporter activity
- ethanolamine transmembrane transporter activity
- heme binding
- heme transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FLVCR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FLVCR1 as an antibody target. Whether an autoantibody or antibody against FLVCR1 could matter depends on whether native FLVCR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FLVCR1 is annotated at the cell surface, where native FLVCR1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label FLVCR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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