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

Gene ID: 391059, updated on 20-Dec-2019

Summary

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
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

Genomic context

See FRRS1 in Genome Data Viewer
Location:
1p21.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (99703967..99766635, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100174206..100232186, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene palmdelphin Neighboring gene high mobility group box 3 pseudogene 10 Neighboring gene RNA, U4 small nuclear 75, pseudogene Neighboring gene ribosomal protein L39 pseudogene 9

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ferric-chelate reductase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001013660.3NP_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:320533
    Cyt_b561_FRRS1_like; Eukaryotic cytochrome b(561), including the FRRS1 gene product
    cd09628
    Location:192354
    DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins
    pfam02014
    Location:32155
    Reeler; Reeler domain
  2. NM_001361041.2NP_001347970.1  ferric-chelate reductase 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC105270, AL451051
    Related
    ENSP00000496583.1, ENST00000646001.1
    Conserved Domains (3) summary
    cd08760
    Location:320533
    Cyt_b561_FRRS1_like; Eukaryotic cytochrome b(561), including the FRRS1 gene product
    cd09628
    Location:192354
    DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins
    pfam02014
    Location:32155
    Reeler; Reeler domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    99703967..99766635 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q6ZNA5
    Conserved Domains (3) summary
    cd08760
    Location:320533
    Cyt_b561_FRRS1_like; Eukaryotic cytochrome b(561), including the FRRS1 gene product
    cd09628
    Location:192354
    DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins
    pfam02014
    Location:32155
    Reeler; Reeler domain
  2. XM_011541451.3XP_011539753.1  ferric-chelate reductase 1 isoform X1

    See identical proteins and their annotated locations for XP_011539753.1

    UniProtKB/Swiss-Prot
    Q6ZNA5
    Conserved Domains (3) summary
    cd08760
    Location:320533
    Cyt_b561_FRRS1_like; Eukaryotic cytochrome b(561), including the FRRS1 gene product
    cd09628
    Location:192354
    DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins
    pfam02014
    Location:32155
    Reeler; Reeler domain
  3. XM_011541452.1XP_011539754.1  ferric-chelate reductase 1 isoform X2

    Conserved Domains (3) summary
    cd08760
    Location:320493
    Cyt_b561_FRRS1_like; Eukaryotic cytochrome b(561), including the FRRS1 gene product
    cd09628
    Location:192354
    DOMON_SDR_2_like; DOMON domain of stromal cell-derived receptor 2 (ferric chelate reductase 1) and related proteins
    pfam02014
    Location:32155
    Reeler; Reeler domain

RNA

  1. XR_426607.1 RNA Sequence

  2. XR_946656.1 RNA Sequence

  3. XR_946655.1 RNA Sequence

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