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STEAP3 STEAP3 metalloreductase [ Homo sapiens (human) ]

Gene ID: 55240, updated on 4-Feb-2018
Official Symbol
STEAP3provided by HGNC
Official Full Name
STEAP3 metalloreductaseprovided by HGNC
Primary source
HGNC:HGNC:24592
See related
Ensembl:ENSG00000115107 MIM:609671; Vega:OTTHUMG00000131402
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
Location:
2q14.2
Exon count:
11
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (119222476..119265652)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (119981384..120023228)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985941 Neighboring gene RNA, 7SL, cytoplasmic 468, pseudogene Neighboring gene STEAP3 antisense RNA 1 Neighboring gene uncharacterized LOC105373581 Neighboring gene chromosome 2 open reading frame 76 Neighboring gene diazepam binding inhibitor, acyl-CoA binding protein

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hypochromic microcytic anemia with iron overload 2
MedGen: C3808920 OMIM: 615234 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.
NHGRI GWA Catalog
  • Copper homeostasis, organism-specific biosystem (from WikiPathways)
    Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Ferroptosis, organism-specific biosystem (from KEGG)
    Ferroptosis, organism-specific biosystemFerroptosis is a regulated form of cell death and characterized by a production of reactive oxygen species (ROS) from accumulated iron and lipid peroxidation. It can be induced by experimental compou...
  • Ferroptosis, conserved biosystem (from KEGG)
    Ferroptosis, conserved biosystemFerroptosis is a regulated form of cell death and characterized by a production of reactive oxygen species (ROS) from accumulated iron and lipid peroxidation. It can be induced by experimental compou...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Iron metabolism in placenta, organism-specific biosystem (from WikiPathways)
    Iron metabolism in placenta, organism-specific biosystemDuring pregnancy, iron is transported from mother to fetus across the placenta. Iron is essential for many biological processes, including the transfer of oxygen in blood, but it can also be toxic. E...
  • Iron uptake and transport, organism-specific biosystem (from REACTOME)
    Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
  • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
  • TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, organism-specific biosystemApoptotic transcriptional targets of TP53 include genes that regulate the permeability of the mitochondrial membrane and/or cytochrome C release, such as BAX, BID, PMAIP1 (NOXA), BBC3 (PUMA) and prob...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • Transferrin endocytosis and recycling, organism-specific biosystem (from REACTOME)
    Transferrin endocytosis and recycling, organism-specific biosystemEndocytosis of iron loaded transferrin/receptor complex leads, after acidification of the endosome, to the separation of iron and its diffusion out of the vesicle. The endosome is not fused with a ly...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • p53 signaling pathway, organism-specific biosystem (from KEGG)
    p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
  • p53 signaling pathway, conserved biosystem (from KEGG)
    p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cupric reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
ferric-chelate reductase (NADPH) activity IBA
Inferred from Biological aspect of Ancestor
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
copper ion import IBA
Inferred from Biological aspect of Ancestor
more info
 
ferric iron import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
protein secretion IDA
Inferred from Direct Assay
more info
PubMed 
protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of apoptotic process TAS
Traceable Author Statement
more info
 
transferrin transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
multivesicular body IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
metalloreductase STEAP3
Names
STEAP family member 3, metalloreductase
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_006712677.1
XP_006712678.1
XP_011509705.1

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
    5001..46845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008410.1NP_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
    Q658P3
    UniProtKB/TrEMBL
    A0A024RAD7
    Related
    ENSP00000376819.2, OTTHUMP00000203625, ENST00000393107.2, OTTHUMT00000330589
    Conserved Domains (3) summary
    COG2085
    Location:29209
    COG2085; Predicted dinucleotide-binding enzyme [General function prediction only]
    pfam01794
    Location:262405
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam03807
    Location:32117
    F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
  2. NM_018234.2NP_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, AL833624, AY214461
    Consensus CDS
    CCDS2125.1
    UniProtKB/Swiss-Prot
    Q658P3
    UniProtKB/TrEMBL
    A0A024RAD7
    Related
    ENSP00000376818.2, OTTHUMP00000162093, ENST00000393106.6, OTTHUMT00000254193
    Conserved Domains (3) summary
    COG2085
    Location:29209
    COG2085; Predicted dinucleotide-binding enzyme [General function prediction only]
    pfam01794
    Location:262405
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam03807
    Location:32117
    F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
  3. NM_138637.2NP_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/Swiss-Prot
    Q658P3
    UniProtKB/TrEMBL
    B8ZZX6
    Related
    ENSP00000386510.1, OTTHUMP00000203624, ENST00000409811.5, OTTHUMT00000330588
    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_182915.2NP_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, OTTHUMP00000162092, ENST00000393110.6, OTTHUMT00000254192
    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: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

    Range
    119222476..119265652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712614.3XP_006712677.1  metalloreductase STEAP3 isoform X1

    See identical proteins and their annotated locations for XP_006712677.1

    UniProtKB/Swiss-Prot
    Q658P3
    UniProtKB/TrEMBL
    A0A024RAD7
    Conserved Domains (3) summary
    COG2085
    Location:29209
    COG2085; Predicted dinucleotide-binding enzyme [General function prediction only]
    pfam01794
    Location:262405
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam03807
    Location:32117
    F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
  2. XM_011511403.1XP_011509705.1  metalloreductase STEAP3 isoform X1

    See identical proteins and their annotated locations for XP_011509705.1

    UniProtKB/Swiss-Prot
    Q658P3
    UniProtKB/TrEMBL
    A0A024RAD7
    Conserved Domains (3) summary
    COG2085
    Location:29209
    COG2085; Predicted dinucleotide-binding enzyme [General function prediction only]
    pfam01794
    Location:262405
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam03807
    Location:32117
    F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
  3. XM_006712615.1XP_006712678.1  metalloreductase STEAP3 isoform X1

    See identical proteins and their annotated locations for XP_006712678.1

    UniProtKB/Swiss-Prot
    Q658P3
    UniProtKB/TrEMBL
    A0A024RAD7
    Conserved Domains (3) summary
    COG2085
    Location:29209
    COG2085; Predicted dinucleotide-binding enzyme [General function prediction only]
    pfam01794
    Location:262405
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam03807
    Location:32117
    F420_oxidored; NADP oxidoreductase coenzyme F420-dependent

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    119984899..120026728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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