Gene

flvcr1

ID
ZDB-GENE-041014-359
Name
FLVCR choline and heme transporter 1
Symbol
flvcr1 Nomenclature History
Previous Names
  • si:ch211-147d7.6
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Predicted to enable heme binding activity and heme transmembrane transporter activity. Acts upstream of or within erythrocyte differentiation and heme metabolic process. Predicted to be active in membrane and mitochondrion. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with microcephaly, absent speech, and hypotonia. Orthologous to human FLVCR1 (FLVCR choline and heme transporter 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from Mercurio et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
No data available
Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-flvcr1
    (2)
    CRISPR2-flvcr1
      (2)
      MO1-flvcr1N/A (2)
      MO2-flvcr1N/A (2)
      MO3-flvcr1N/AMercurio et al., 2015
      1 - 5 of 5
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      Human Disease
      Associated With flvcr1 Human Ortholog
      Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
      neurodevelopmental disorder with microcephaly, absent speech, and hypotonia Alliance Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 621060
      Retinopathy-sensory neuropathy syndrome 609033
      1 - 2 of 2
      Associated With flvcr1 Via Experimental Models
      No data available
      Gene Ontology
      Protein Domains
      Domain, Family, and Site Summary
      Type InterPro ID Name
      Domain IPR020846 Major facilitator superfamily domain
      Family IPR011701 Major facilitator superfamily
      Family IPR049680 Choline/ethanolamine transporter FLVCR1-2/SLC49-like
      Homologous_superfamily IPR036259 MFS transporter superfamily
      1 - 4 of 4
      Domain Details Per Protein
      Protein Length Choline/ethanolamine transporter FLVCR1-2/SLC49-like Major facilitator superfamily Major facilitator superfamily domain MFS transporter superfamily
      UniProtKB:Q5RGT2 527
      UniProtKB:A0A8M2B7P0 525
      1 - 2 of 2
      Transcripts
      Genome Browsers
      Genome Build: GRCz11Chromosome: 20
      Type Name Annotation Method Has Havana Data Length (nt) Analysis
      mRNA flvcr1-201 (1) Ensembl 2,644 nt
      1 - 1 of 1
      Interactions and Pathways
      No data available
      Antibodies
      No data available
      Plasmids
      No data available
      Constructs
      No data available
      Marker Relationships
      Relationship Marker Type Marker Accession Numbers Citations
      Contained inBACCH211-147D7ZFIN Curated Data
      1 - 1 of 1
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      Sequences
      Orthology
      Comparative Orthology
      Alliance
      Gene Tree
      Ensembl
      Species Symbol Chromosome Accession # Evidence
      HumanFLVCR11
      Amino acid sequence comparison (3)
      Conserved genome location (synteny) (1)
      MouseFlvcr11
      Conserved genome location (synteny) (1)
      Amino acid sequence comparison (2)
      Citations
      1 - 10 of 10
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