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    FRRS1 ferric chelate reductase 1 [ Homo sapiens (human) ]

    Gene ID: 391059, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FRRS1provided by HGNC
    Official Full Name
    ferric chelate reductase 1provided by HGNC
    Primary source
    HGNC:HGNC:27622
    See related
    Ensembl:ENSG00000156869 MIM:611578; AllianceGenome:HGNC:27622
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SDR2; SDFR2
    Summary
    Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in liver (RPKM 6.9), placenta (RPKM 5.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FRRS1 in Genome Data Viewer
    Location:
    1p21.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (99703970..99766635, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (99552107..99614760, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100169526..100232191, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene palmdelphin Neighboring gene high mobility group box 3 pseudogene 10 Neighboring gene Sharpr-MPRA regulatory region 5706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1361 Neighboring gene RNA, U4 small nuclear 75, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:100274830-100275330 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:100301802-100302438 Neighboring gene ribosomal protein L39 pseudogene 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Stromal cell-derived receptor 2 and cytochrome b561 are functional ferric reductases. Vargas JD, et al. Biochim Biophys Acta, 2003 Sep 23. PMID 14499595
    2. White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder. Sprooten E, et al. Psychiatry Res, 2013 Apr 30. PMID 23218918
    3. Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB. Li FL, et al. EMBO J, 2022 Sep 1. PMID 35844135, Free PMC Article
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
    EBI GWAS Catalog

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity, acting on metal ions IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxidoreductase activity, acting on metal ions ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular iron ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ferric-chelate reductase 1
    Names
    SDR-2
    stromal cell derived factor receptor 2 homolog
    stromal cell-derived receptor 2

    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.

    mRNA and Protein(s)

    1. NM_001013660.4 → NP_001013682.2  ferric-chelate reductase 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001013682.2

      Status: VALIDATED

      Source sequence(s)
      AC105270, AK131302
      Consensus CDS
      CCDS30780.1
      UniProtKB/Swiss-Prot
      Q6ZNA5
      Related
      ENSP00000287474.4, ENST00000287474.9
      Conserved Domains (3) summary
      cd08760
      Location:320 → 533
      Cyt_b561_FRRS1_like; Eukaryotic cytochrome b(561), including the FRRS1 gene product
      cd09628
      Location:192 → 354
      DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins
      pfam02014
      Location:32 → 155
      Reeler; Reeler domain

    2. NM_001361041.2 → NP_001347970.1  ferric-chelate reductase 1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC105270, AL451051
      Consensus CDS
      CCDS91007.1
      UniProtKB/Swiss-Prot
      A6NLN7, Q6ZNA5
      Related
      ENSP00000496583.2, ENST00000646001.2
      Conserved Domains (3) summary
      cd08760
      Location:320 → 533
      Cyt_b561_FRRS1_like; Eukaryotic cytochrome b(561), including the FRRS1 gene product
      cd09628
      Location:192 → 354
      DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins
      pfam02014
      Location:32 → 155
      Reeler; Reeler domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      99703970..99766635 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001271.2 → XP_016856760.1  ferric-chelate reductase 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NLN7, Q6ZNA5
      Conserved Domains (3) summary
      cd08760
      Location:320 → 533
      Cyt_b561_FRRS1_like; Eukaryotic cytochrome b(561), including the FRRS1 gene product
      cd09628
      Location:192 → 354
      DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins
      pfam02014
      Location:32 → 155
      Reeler; Reeler domain

    2. XM_047420239.1 → XP_047276195.1  ferric-chelate reductase 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NLN7, Q6ZNA5

    3. XM_011541451.4 → XP_011539753.1  ferric-chelate reductase 1 isoform X1

      See identical proteins and their annotated locations for XP_011539753.1

      UniProtKB/Swiss-Prot
      A6NLN7, Q6ZNA5
      Conserved Domains (3) summary
      cd08760
      Location:320 → 533
      Cyt_b561_FRRS1_like; Eukaryotic cytochrome b(561), including the FRRS1 gene product
      cd09628
      Location:192 → 354
      DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins
      pfam02014
      Location:32 → 155
      Reeler; Reeler domain

    4. XM_011541452.2 → XP_011539754.1  ferric-chelate reductase 1 isoform X2

      Conserved Domains (3) summary
      cd08760
      Location:320 → 493
      Cyt_b561_FRRS1_like; Eukaryotic cytochrome b(561), including the FRRS1 gene product
      cd09628
      Location:192 → 354
      DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins
      pfam02014
      Location:32 → 155
      Reeler; Reeler domain

    5. XM_047420257.1 → XP_047276213.1  ferric-chelate reductase 1 isoform X3

    RNA

    1. XR_946655.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      99552107..99614760 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336537.1 → XP_054192512.1  ferric-chelate reductase 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NLN7, Q6ZNA5

    2. XM_054336536.1 → XP_054192511.1  ferric-chelate reductase 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NLN7, Q6ZNA5

    3. XM_054336538.1 → XP_054192513.1  ferric-chelate reductase 1 isoform X2

    4. XM_054336539.1 → XP_054192514.1  ferric-chelate reductase 1 isoform X3

    RNA

    1. XR_008486047.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNA5.2 GenPept UniProtKB/Swiss-Prot:Q6ZNA5

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