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

Gene ID: 391059, updated on 28-Oct-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 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)

Genotypes

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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