FLVCR1 FLVCR choline and heme transporter 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FLVCR1provided by HGNC
Official Full Name: FLVCR choline and heme transporter 1provided by HGNC
Primary source: HGNC:HGNC:24682
See related: Ensembl:ENSG00000162769 MIM:609144; AllianceGenome:HGNC:24682
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PCA; AXPC1; FLVCR; PCARP; MFSD7B; SLC49A1
Summary: 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]
Expression: Broad expression in small intestine (RPKM 9.2), duodenum (RPKM 4.1) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (212858275..212899363)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (212103255..212144367)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (213031617..213072705)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mfsd7b facilitates choline transport and missense mutations affect choline transport function.
Title: Mfsd7b facilitates choline transport and missense mutations affect choline transport function.
Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.
Title: Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation.
Title: Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation.
FLVCR1 p.Tyr341Cys mutation was observed homozygously in seven Retinitis Pigmentosa affected Irish patients across four pedigrees.
Title: A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.
findings suggested that FLVCR1-AS1/miR-573/E2F3 axis was an important signaling pathway in mediating tumorigenesis and progression of NSCLC
Title: Long non-coding RNA FLVCR1-AS1 contributes to the proliferation and invasion of lung cancer by sponging miR-573 to upregulate the expression of E2F transcription factor 3.
Mutations in FLVCR1 can present with the clinical picture of a non-syndromic autosomal recessive RP (in this case RP without PCA), RP with mild cerebellar signs, but also PCARP.
Title: Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.
We describe clinical and retinal imaging features in the one of the largest cohorts of affected patients in the literature. Given the availability of genetic testing for this phenotype, testing for FLVCR1 mutations should be considered in pediatric and adult patients with sensory ataxia and retinitis pigmentosa.
Title: Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
Here, we describe a patient with non-syndromic retinitis pigmentosa homozygous for a splice-site variant in FLVCR1 (c.1092 + 5G>A) without evidence of posterior column ataxia or cerebellar degeneration.
Title: A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
Altogether, these findings showed a direct association between FLVCR1 mRNA levels and hyperglycemia, suggesting that increased adipose tissue heme exportation might disrupt, or is the consequence of, impaired systemic glucose metabolism during the progression to type 2 diabetes.
Title: Increased adipose tissue heme levels and exportation are associated with altered systemic glucose metabolism.
Mutation in FLVCR1 gene is associated with Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia.
Title: Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Posterior column ataxia-retinitis pigmentosa syndrome MedGen: C1836916 OMIM: 609033 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S217 (e-PCR), detects polymorphism
- UniSTS:69134

D8S2279 (e-PCR)
- UniSTS:473907

D1S217 (e-PCR), detects polymorphism
- UniSTS:77109

SHGC-38147 (e-PCR)
- UniSTS:72778

D10S16 (e-PCR)
- UniSTS:155756

RH64654 (e-PCR)
- UniSTS:89975

SHGC-76322 (e-PCR)
- UniSTS:57217

SHGC-76320 (e-PCR)
- UniSTS:6021

A002T39 (e-PCR)
- UniSTS:41872

SHGC-151048 (e-PCR)
- UniSTS:173201

PMC16555P2 (e-PCR)
- UniSTS:271541

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables heme transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables heme transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables heme transmembrane transporter activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood vessel development	IEA Inferred from Electronic Annotation more info
involved_in embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within erythrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in erythrocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in head morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in heme biosynthetic process	TAS Traceable Author Statement more info
involved_in heme export	IBA Inferred from Biological aspect of Ancestor more info
involved_in heme export	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heme transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in intracellular iron ion homeostasis	TAS Traceable Author Statement more info
involved_in mitochondrial transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitochondrial transport	IDA Inferred from Direct Assay more info	PubMed
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in regulation of organ growth	IEA Inferred from Electronic Annotation more info
involved_in spleen development	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: heme transporter FLVCR1

Names: FLVCR heme transporter 1; feline leukemia virus subgroup C cellular receptor 1; feline leukemia virus subgroup C receptor-related protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028131.1 RefSeqGene

Range

5021..46109

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014053.4 → NP_054772.1 heme transporter FLVCR1

See identical proteins and their annotated locations for NP_054772.1

Status: REVIEWED

Source sequence(s)

AC104333, AF118637, AK090739, AK314481, GD138340

Consensus CDS

CCDS1510.1

UniProtKB/Swiss-Prot

Q1HE16, Q86XY9, Q9NVR9, Q9Y5Y0

UniProtKB/TrEMBL

B2RB38

Related

ENSP00000355938.4, ENST00000366971.9

Conserved Domains (2) summary

cd06174
Location:111 → 512

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam07690
Location:113 → 478

MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

212858275..212899363

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509447.3 → XP_011507749.1 heme transporter FLVCR1 isoform X1

See identical proteins and their annotated locations for XP_011507749.1

Conserved Domains (2) summary

cd06174
Location:111 → 294

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam07690
Location:113 → 294

MFS_1; Major Facilitator Superfamily
XM_011509448.2 → XP_011507750.1 heme transporter FLVCR1 isoform X1

See identical proteins and their annotated locations for XP_011507750.1

Conserved Domains (2) summary

cd06174
Location:111 → 294

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam07690
Location:113 → 294

MFS_1; Major Facilitator Superfamily