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    STEAP3 STEAP3 metalloreductase [ Homo sapiens (human) ]

    Gene ID: 55240, updated on 23-Nov-2023

    Summary

    Official Symbol
    STEAP3provided by HGNC
    Official Full Name
    STEAP3 metalloreductaseprovided by HGNC
    Primary source
    HGNC:HGNC:24592
    See related
    Ensembl:ENSG00000115107 MIM:609671; AllianceGenome:HGNC:24592
    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
    STMP3; TSAP6; pHyde; AHMIO2; dudlin-2; dudulin-2
    Summary
    This gene encodes a multipass membrane protein that functions as an iron transporter. The encoded protein can reduce both iron (Fe3+) and copper (Cu2+) cations. This protein may mediate downstream responses to p53, including promoting apoptosis. Deficiency in this gene can cause anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
    Expression
    Ubiquitous expression in liver (RPKM 27.2), duodenum (RPKM 11.9) and 23 other tissues See more
    Orthologs
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    Genomic context

    See STEAP3 in Genome Data Viewer
    Location:
    2q14.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (119223834..119265652)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (119657360..119699155)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (119981410..120023228)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985941 Neighboring gene RNA, 7SL, cytoplasmic 468, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119953346-119954184 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119954185-119955022 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:119975074-119976273 Neighboring gene Sharpr-MPRA regulatory region 13360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11901 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119997658-119998174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119998175-119998691 Neighboring gene STEAP3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120011987-120012930 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120013256-120014122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120016992-120017765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11902 Neighboring gene uncharacterized LOC105373581 Neighboring gene NANOG hESC enhancer GRCh37_chr2:120049626-120050127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120051788-120052288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120052289-120052789 Neighboring gene chromosome 2 open reading frame 76 Neighboring gene NANOG hESC enhancer GRCh37_chr2:120064909-120065410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16451 Neighboring gene diazepam binding inhibitor, acyl-CoA binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:120189865-120190371 Neighboring gene transmembrane protein 37

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Severe congenital hypochromic anemia with ringed sideroblasts
    MedGen: C3808920 OMIM: 615234 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cupric reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ferric-chelate reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ferric-chelate reductase (NADPH) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in copper ion import IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transferrin transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in multivesicular body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    metalloreductase STEAP3
    Names
    STEAP family member 3, metalloreductase
    ferrireductase
    six-transmembrane epithelial antigen of prostate 3
    tumor suppressor pHyde
    tumor suppressor-activated pathway protein 6
    NP_001008410.1
    NP_060704.2
    NP_619543.2
    NP_878919.2
    XP_011509705.1
    XP_047300851.1
    XP_054198754.1
    XP_054198755.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_042823.1 RefSeqGene

      Range
      5027..46845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008410.2NP_001008410.1  metalloreductase STEAP3 isoform b

      See identical proteins and their annotated locations for NP_001008410.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AC016736, AY214461, BM146930
      Consensus CDS
      CCDS2125.1
      UniProtKB/Swiss-Prot
      A8K6E3, Q4VBR2, Q4ZG36, Q53SQ8, Q658P3, Q7Z389, Q86SF6, Q8NEW6, Q8TDP3, Q8TF03, Q9NVB5
      Related
      ENSP00000376819.2, ENST00000393107.2
      Conserved Domains (2) summary
      COG2085
      Location:29209
      COG2085; Predicted dinucleotide-binding enzyme [General function prediction only]
      pfam01794
      Location:262405
      Ferric_reduct; Ferric reductase like transmembrane component
    2. NM_018234.3NP_060704.2  metalloreductase STEAP3 isoform b

      See identical proteins and their annotated locations for NP_060704.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon and contains an alternate exon in the 5' region, and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AC016736, AY214461
      Consensus CDS
      CCDS2125.1
      UniProtKB/Swiss-Prot
      A8K6E3, Q4VBR2, Q4ZG36, Q53SQ8, Q658P3, Q7Z389, Q86SF6, Q8NEW6, Q8TDP3, Q8TF03, Q9NVB5
      Related
      ENSP00000376818.2, ENST00000393106.6
      Conserved Domains (2) summary
      COG2085
      Location:29209
      COG2085; Predicted dinucleotide-binding enzyme [General function prediction only]
      pfam01794
      Location:262405
      Ferric_reduct; Ferric reductase like transmembrane component
    3. NM_138637.3NP_619543.2  metalloreductase STEAP3 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' region and contains an alternate exon in the 3' region, compared to variant 1. It initiates translation at a downstream start codon, and contains a frameshift in the 3' coding region. The resulting isoform (c) is shorter at the N-terminus and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC016736, AF262322, AF423424, AL833624
      Consensus CDS
      CCDS82504.1
      UniProtKB/TrEMBL
      B8ZZX6
      Related
      ENSP00000386510.1, ENST00000409811.5
      Conserved Domains (3) summary
      COG2085
      Location:29209
      COG2085; Predicted dinucleotide-binding enzyme [General function prediction only]
      pfam01794
      Location:262394
      Ferric_reduct; Ferric reductase like transmembrane component
      pfam03807
      Location:32117
      F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
    4. NM_182915.3NP_878919.2  metalloreductase STEAP3 isoform a

      See identical proteins and their annotated locations for NP_878919.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC016736, AL833624, BX538047
      Consensus CDS
      CCDS42738.1
      UniProtKB/Swiss-Prot
      Q658P3
      Related
      ENSP00000376822.2, ENST00000393110.7
      Conserved Domains (3) summary
      COG2085
      Location:39219
      COG2085; Predicted dinucleotide-binding enzyme [General function prediction only]
      pfam01794
      Location:272415
      Ferric_reduct; Ferric reductase like transmembrane component
      pfam03807
      Location:42127
      F420_oxidored; NADP oxidoreductase coenzyme F420-dependent

    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

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      119223834..119265652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511403.2XP_011509705.1  metalloreductase STEAP3 isoform X2

      See identical proteins and their annotated locations for XP_011509705.1

      UniProtKB/Swiss-Prot
      A8K6E3, Q4VBR2, Q4ZG36, Q53SQ8, Q658P3, Q7Z389, Q86SF6, Q8NEW6, Q8TDP3, Q8TF03, Q9NVB5
      Conserved Domains (2) summary
      COG2085
      Location:29209
      COG2085; Predicted dinucleotide-binding enzyme [General function prediction only]
      pfam01794
      Location:262405
      Ferric_reduct; Ferric reductase like transmembrane component
    2. XM_047444895.1XP_047300851.1  metalloreductase STEAP3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      119657360..119699155
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342780.1XP_054198755.1  metalloreductase STEAP3 isoform X2

      UniProtKB/Swiss-Prot
      A8K6E3, Q4VBR2, Q4ZG36, Q53SQ8, Q658P3, Q7Z389, Q86SF6, Q8NEW6, Q8TDP3, Q8TF03, Q9NVB5
    2. XM_054342779.1XP_054198754.1  metalloreductase STEAP3 isoform X1