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HEPH hephaestin [ Homo sapiens (human) ]

Gene ID: 9843, updated on 26-Oct-2022

Summary

Official Symbol
HEPHprovided by HGNC
Official Full Name
hephaestinprovided by HGNC
Primary source
HGNC:HGNC:4866
See related
Ensembl:ENSG00000089472 MIM:300167; AllianceGenome:HGNC:4866
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
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Genomic context

See HEPH in Genome Data Viewer
Location:
Xq12
Exon count:
28
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (66162671..66268863)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (64590334..64696504)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (65382513..65488705)

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

EBI 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.
EBI GWAS 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
enables copper ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ferrous iron binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ferroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ferroxidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in copper ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in iron ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in iron ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

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.

Genomic

  1. NG_016265.2 RefSeqGene

    Range
    6657..109799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130860.6NP_001124332.2  hephaestin isoform c precursor

    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)
    AL030998, AL157698, KF459144
    Consensus CDS
    CCDS48133.2
    Related
    ENSP00000411687.3, ENST00000441993.7
    Conserved Domains (6) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:733905
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9201063
    Cupredoxin; Cupredoxin superfamily
  2. NM_001282141.3NP_001269070.2  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)
    AL030998, AL157698, KF459144
    Consensus CDS
    CCDS65277.2
    UniProtKB/TrEMBL
    E7ES21
    Related
    ENSP00000413211.2, ENST00000419594.6
    Conserved Domains (4) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04225
    Location:541713
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:377720
    Cupredoxin; Cupredoxin superfamily
  3. NM_001367232.3NP_001354161.2  hephaestin isoform a 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
    Consensus CDS
    CCDS14384.4
    UniProtKB/Swiss-Prot
    Q9C058
    UniProtKB/TrEMBL
    Q1HE23
    Conserved Domains (6) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:733905
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9201063
    Cupredoxin; Cupredoxin superfamily
  4. NM_001367233.3NP_001354162.2  hephaestin isoform a 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
    Consensus CDS
    CCDS14384.4
    UniProtKB/Swiss-Prot
    Q9C058
    UniProtKB/TrEMBL
    Q1HE23
    Related
    ENSP00000343939.2, ENST00000343002.7
    Conserved Domains (6) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:733905
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9201063
    Cupredoxin; Cupredoxin superfamily
  5. NM_001367234.3NP_001354163.2  hephaestin isoform a 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
    Consensus CDS
    CCDS14384.4
    UniProtKB/Swiss-Prot
    Q9C058
    UniProtKB/TrEMBL
    Q1HE23
    Related
    ENST00000683420.1
    Conserved Domains (6) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:733905
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9201063
    Cupredoxin; Cupredoxin superfamily
  6. NM_001367236.3NP_001354165.2  hephaestin isoform f precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (6) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377570
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:731903
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:573716
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9181061
    Cupredoxin; Cupredoxin superfamily
  7. NM_001367238.3NP_001354167.2  hephaestin isoform g precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Consensus CDS
    CCDS94623.1
    UniProtKB/TrEMBL
    Q5JZ08
    Related
    ENSP00000398078.2, ENST00000425114.2
    Conserved Domains (5) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:662834
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:849992
    Cupredoxin; Cupredoxin superfamily
  8. NM_001367239.3NP_001354168.2  hephaestin isoform h precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (5) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:662834
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:849992
    Cupredoxin; Cupredoxin superfamily
  9. NM_001367240.3NP_001354169.2  hephaestin isoform i precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Related
    ENSP00000396907.2, ENST00000458621.6
    Conserved Domains (5) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:733854
    Cupredoxin; Cupredoxin superfamily
  10. NM_001367241.3NP_001354170.2  hephaestin isoform j precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (5) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:733854
    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
    Consensus CDS
    CCDS14385.1
    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_001367243.3NP_001354172.2  hephaestin isoform k precursor

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Conserved Domains (3) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:377502
    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_138737.6NP_620074.4  hephaestin isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL030998, AL157698, KF459144
    Consensus CDS
    CCDS14384.4
    UniProtKB/Swiss-Prot
    Q9C058
    UniProtKB/TrEMBL
    Q1HE23
    Related
    ENSP00000430620.2, ENST00000519389.6
    Conserved Domains (6) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377572
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:733905
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cd11022
    Location:575718
    CuRO_4_ceruloplasmin; The fourth cupredoxin domain of Ceruloplasmin
    cl19115
    Location:9201063
    Cupredoxin; Cupredoxin superfamily

RNA

  1. NR_159800.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL030998, AL157698, KF459144
    Related
    ENST00000684042.1
  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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    66162671..66268863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442695.1XP_047298651.1  hephaestin isoform X3

  2. XM_047442694.1XP_047298650.1  hephaestin isoform X2

  3. XM_047442698.1XP_047298654.1  hephaestin isoform X9

  4. XM_011531075.3XP_011529377.1  hephaestin isoform X6

    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
  5. XM_011531074.3XP_011529376.1  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
    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
  6. XM_047442697.1XP_047298653.1  hephaestin isoform X8

  7. XM_011531073.4XP_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
  8. XM_017029998.3XP_016885487.1  hephaestin isoform X7

  9. XM_047442696.1XP_047298652.1  hephaestin isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    64590334..64696504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)