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HEPH hephaestin [ Homo sapiens (human) ]

Gene ID: 9843, updated on 13-Mar-2020

Summary

Official Symbol
HEPHprovided by HGNC
Official Full Name
hephaestinprovided by HGNC
Primary source
HGNC:HGNC:4866
See related
Ensembl:ENSG00000089472 MIM:300167
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
CPL
Summary
This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Broad expression in small intestine (RPKM 39.0), colon (RPKM 38.6) and 16 other tissues See more
Orthologs

Genomic context

See HEPH in Genome Data Viewer
Location:
Xq12
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (66162526..66268863)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (65382433..65487231)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4431 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 9 Neighboring gene MTFR1 pseudogene 1 Neighboring gene G protein-coupled receptor 165, pseudogene

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

NHGRI GWAS Catalog

Description
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0698

Gene Ontology Provided by GOA

Function Evidence Code Pubs
copper ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
ferrous iron binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
ferroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferroxidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
 
copper ion transport IEA
Inferred from Electronic Annotation
more info
 
iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

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.

Genomic

  1. NG_016265.2 RefSeqGene

    Range
    6657..111273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130860.4NP_001124332.1  hephaestin isoform c precursor

    See identical proteins and their annotated locations for NP_001124332.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5'-most exon, uses an alternate splice site in the 3' coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (c) is shorter, compared to isoform a.
    Source sequence(s)
    AY358990, BC011561, CN361718
    Consensus CDS
    CCDS48133.1
    UniProtKB/Swiss-Prot
    Q9BQS7
    UniProtKB/TrEMBL
    A0A0C4DG76
    Related
    ENSP00000411687.2, ENST00000441993.6
    Conserved Domains (6) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:380575
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:736908
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:578721
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9231066
    Cupredoxin; Cupredoxin superfamily
  2. NM_001282141.2NP_001269070.1  hephaestin isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5'-most exon, lacks three consecutive exons in the central coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (d) is shorter, compared to isoform a.
    Source sequence(s)
    AL157698, AY358990, BC011561, CN361718
    Consensus CDS
    CCDS65277.1
    UniProtKB/Swiss-Prot
    Q9BQS7
    UniProtKB/TrEMBL
    E7ES21
    Related
    ENSP00000413211.1, ENST00000419594.5
    Conserved Domains (4) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04225
    Location:544716
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:380723
    Cupredoxin; Cupredoxin superfamily
  3. NM_001367232.2NP_001354161.1  hephaestin isoform e precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 6 and 7, encodes isoform e.
    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (6) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:380575
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:736908
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:578721
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9231066
    Cupredoxin; Cupredoxin superfamily
  4. NM_001367233.2NP_001354162.1  hephaestin isoform e precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 5 and 7, encodes isoform e.
    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (6) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:380575
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:736908
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:578721
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9231066
    Cupredoxin; Cupredoxin superfamily
  5. NM_001367234.1NP_001354163.1  hephaestin isoform e precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 5 and 6, encodes isoform e.
    Source sequence(s)
    AL030998, AL157698, KF459144
    Related
    ENSP00000343939.2, ENST00000343002.6
    Conserved Domains (6) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:380575
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:736908
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:578721
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9231066
    Cupredoxin; Cupredoxin superfamily
  6. NM_001367236.2NP_001354165.1  hephaestin isoform f precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (6) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:380573
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:734906
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:576719
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9211064
    Cupredoxin; Cupredoxin superfamily
  7. NM_001367238.2NP_001354167.1  hephaestin isoform g precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (5) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:380575
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:665837
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:852995
    Cupredoxin; Cupredoxin superfamily
  8. NM_001367239.1NP_001354168.1  hephaestin isoform h precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (5) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:380575
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:665837
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:852995
    Cupredoxin; Cupredoxin superfamily
  9. NM_001367240.2NP_001354169.1  hephaestin isoform i precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (5) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:380575
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:578721
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:736857
    Cupredoxin; Cupredoxin superfamily
  10. NM_001367241.1NP_001354170.1  hephaestin isoform j precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (5) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:380575
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:578721
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:736857
    Cupredoxin; Cupredoxin superfamily
  11. NM_001367242.2NP_001354171.1  hephaestin isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variant 2, encodes isoform b.
    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (4) summary
    cd04224
    Location:110305
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:466638
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11022
    Location:308451
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:653796
    Cupredoxin; Cupredoxin superfamily
  12. NM_001367243.2NP_001354172.1  hephaestin isoform k precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (3) summary
    cd04222
    Location:29211
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd11021
    Location:226366
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:380505
    Cupredoxin; Cupredoxin superfamily
  13. NM_014799.4NP_055614.1  hephaestin isoform b

    See identical proteins and their annotated locations for NP_055614.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2 and 13 both encode the same isoform (b).
    Source sequence(s)
    AB014598, AL157698, BC011561, CN361718
    Consensus CDS
    CCDS14385.1
    UniProtKB/Swiss-Prot
    Q9BQS7
    Related
    ENSP00000337418.5, ENST00000336279.9
    Conserved Domains (4) summary
    cd04224
    Location:110305
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:466638
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11022
    Location:308451
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:653796
    Cupredoxin; Cupredoxin superfamily
  14. NM_138737.5NP_620074.3  hephaestin isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL030998, AL157698, BC011561, BP282214
    Consensus CDS
    CCDS14384.3
    UniProtKB/Swiss-Prot
    Q9BQS7
    Related
    ENSP00000430620.1, ENST00000519389.5
    Conserved Domains (6) summary
    cd04222
    Location:80262
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:431626
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:787959
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:277417
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:629772
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9741117
    Cupredoxin; Cupredoxin superfamily

RNA

  1. NR_159800.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
  2. NR_159801.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
  3. NR_159802.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    66162526..66268863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029998.2XP_016885487.1  hephaestin isoform X5

  2. XM_011531073.3XP_011529375.1  hephaestin isoform X1

    Conserved Domains (6) summary
    cd04222
    Location:80262
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:431626
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:787959
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:277417
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:629772
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9741117
    Cupredoxin; Cupredoxin superfamily
  3. XM_011531075.2XP_011529377.1  hephaestin isoform X4

    Conserved Domains (5) summary
    cd04222
    Location:80262
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:431626
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd11021
    Location:277417
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:629772
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:787908
    Cupredoxin; Cupredoxin superfamily
  4. XM_011531074.2XP_011529376.1  hephaestin isoform X3

    Conserved Domains (5) summary
    cd04222
    Location:80262
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:431626
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:716888
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:277417
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9031046
    Cupredoxin; Cupredoxin superfamily
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