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Heph hephaestin [ Mus musculus (house mouse) ]

Gene ID: 15203, updated on 19-Sep-2024

Summary

Official Symbol
Hephprovided by MGI
Official Full Name
hephaestinprovided by MGI
Primary source
MGI:MGI:1332240
See related
Ensembl:ENSMUSG00000031209 AllianceGenome:MGI:1332240
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Hp; Cpl; sla; mKIAA0698; C130006F04Rik
Summary
Predicted to enable copper ion binding activity; ferrous iron binding activity; and ferroxidase activity. Acts upstream of or within erythrocyte differentiation. Predicted to be located in basolateral plasma membrane and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Orthologous to human HEPH (hephaestin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in large intestine adult (RPKM 13.9), ovary adult (RPKM 10.4) and 15 other tissues See more
Orthologs
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Genomic context

See Heph in Genome Data Viewer
Location:
X C3; X 42.69 cM
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (95499042..95618091)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (96455436..96574485)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 18171 Neighboring gene heat shock transcription factor 3 Neighboring gene STARR-seq mESC enhancer starr_47582 Neighboring gene cofilin 1, non-muscle pseudogene Neighboring gene STARR-seq mESC enhancer starr_47583 Neighboring gene ribosomal protein L17, pseudogene 8 Neighboring gene heat shock protein 1 (chaperonin) pseudogene 10 Neighboring gene STARR-seq mESC enhancer starr_47584 Neighboring gene G protein-coupled receptor 165 Neighboring gene STARR-seq mESC enhancer starr_47585 Neighboring gene STARR-seq mESC enhancer starr_47586 Neighboring gene predicted gene 14803

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (2) 
  • Radiation induced (1) 
  • Targeted (2)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables copper ion binding IEA
Inferred from Electronic Annotation
more info
 
enables copper ion binding ISO
Inferred from Sequence Orthology
more info
 
enables ferrous iron binding ISO
Inferred from Sequence Orthology
more info
 
enables ferroxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ferroxidase activity ISO
Inferred from Sequence Orthology
more info
 
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in basolateral plasma membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
hephaestin
Names
haphaestin
sex linked anemia
NP_001153099.1
NP_001153100.1
NP_034547.2
NP_851790.1

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.

mRNA and Protein(s)

  1. NM_001159627.1NP_001153099.1  hephaestin isoform 1 precursor

    See identical proteins and their annotated locations for NP_001153099.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter, compared to variant 1, and enocdes the longest isoform (1). Both variants 1 and 3 encode the same isoform.
    Source sequence(s)
    AF082567, AK129194, CJ053588
    Consensus CDS
    CCDS30289.1
    UniProtKB/Swiss-Prot
    A2AI63, Q6ZQ65, Q80Y80, Q8C4S2, Q9Z0Z4
    Related
    ENSMUSP00000109469.2, ENSMUST00000113838.8
    Conserved Domains (5) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377571
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732903
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:574717
    Cupredoxin; Cupredoxin superfamily
  2. NM_001159628.1NP_001153100.1  hephaestin isoform 3 precursor

    See identical proteins and their annotated locations for NP_001153100.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (3) lacks one internal amino acid near the C-terminus, compared to isoform 1.
    Source sequence(s)
    AL732365
    UniProtKB/Swiss-Prot
    Q9Z0Z4
    Conserved Domains (5) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377571
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732903
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:574717
    Cupredoxin; Cupredoxin superfamily
  3. NM_010417.2NP_034547.2  hephaestin isoform 1 precursor

    See identical proteins and their annotated locations for NP_034547.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 3 encode the same isoform.
    Source sequence(s)
    AF082567, AK129194, CJ067085
    Consensus CDS
    CCDS30289.1
    UniProtKB/Swiss-Prot
    A2AI63, Q6ZQ65, Q80Y80, Q8C4S2, Q9Z0Z4
    Related
    ENSMUSP00000033553.8, ENSMUST00000033553.14
    Conserved Domains (5) summary
    cd04222
    Location:26208
    CuRO_1_ceruloplasmin; The first cupredoxin domain of Ceruloplasmin
    cd04224
    Location:377571
    CuRO_3_ceruloplasmin; The third cupredoxin domain of Ceruloplasmin
    cd04225
    Location:732903
    CuRO_5_ceruloplasmin; The fifth cupredoxin domain of Ceruloplasmin
    cd11021
    Location:223363
    CuRO_2_ceruloplasmin; The second cupredoxin domain of Ceruloplasmin
    cl19115
    Location:574717
    Cupredoxin; Cupredoxin superfamily
  4. NM_181273.4NP_851790.1  hephaestin isoform 2 precursor

    See identical proteins and their annotated locations for NP_851790.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and uses an alternate 3' splice pattern, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK081330, CJ053588
    Consensus CDS
    CCDS30290.1
    UniProtKB/TrEMBL
    A2AI62
    Related
    ENSMUSP00000078301.6, ENSMUST00000079322.12
    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:377529
    Cupredoxin; Cupredoxin superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    95499042..95618091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)