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    HP haptoglobin [ Homo sapiens (human) ]

    Gene ID: 3240, updated on 15-Oct-2017
    Official Symbol
    HPprovided by HGNC
    Official Full Name
    haptoglobinprovided by HGNC
    Primary source
    HGNC:HGNC:5141
    See related
    Ensembl:ENSG00000257017 MIM:140100; Vega:OTTHUMG00000173009
    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
    BP; HPA1S; HP2ALPHA2
    Summary
    This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. The protein encoded also exhibits antimicrobial activity against bacteria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
    Orthologs
    Location:
    16q22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (72054592..72061056)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72088470..72094955)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3 Neighboring gene dihydroorotate dehydrogenase (quinone) Neighboring gene thioredoxin like 4B Neighboring gene haptoglobin-related protein Neighboring gene DEAH-box helicase 38

    • 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
    Anhaptoglobinemia
    MedGen: C3279786 OMIM: 614081 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog
    • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
      Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Scavenging of heme from plasma, organism-specific biosystem (from REACTOME)
      Scavenging of heme from plasma, organism-specific biosystemFree heme is damaging to tissues as it intercalates into biologic membranes, perturbing lipid bilayers and promoting the conversion of low-density lipoprotein to cytotoxic oxidized products. Moreover...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • amb2 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
      amb2 Integrin signaling, organism-specific biosystem
      amb2 Integrin signaling
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC111141

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    antioxidant activity IEA
    Inferred from Electronic Annotation
    more info
     
    hemoglobin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of hydrogen peroxide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    response to hydrogen peroxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endocytic vesicle lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    haptoglobin-hemoglobin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    haptoglobin
    Names
    binding peptide
    haptoglobin alpha(1S)-beta
    haptoglobin alpha(2FS)-beta
    haptoglobin, alpha polypeptide
    haptoglobin, beta polypeptide
    zonulin

    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_012651.1 RefSeqGene

      Range
      4984..11448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001126102.2NP_001119574.1  haptoglobin isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_001119574.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK314700, BC017862, BC107587, BJ994335
      Consensus CDS
      CCDS45525.1
      UniProtKB/Swiss-Prot
      P00738
      UniProtKB/TrEMBL
      Q6PEJ8
      Related
      ENSP00000381199.2, ENST00000398131.6
      Conserved Domains (3) summary
      cd00033
      Location:3387
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00020
      Location:102340
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:103343
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    2. NM_001318138.1NP_001305067.1  haptoglobin isoform 3 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      BC017862, BC121124, BJ994335
      Consensus CDS
      CCDS82010.1
      UniProtKB/Swiss-Prot
      P00738
      UniProtKB/TrEMBL
      A0A0C4DGL8, Q6PEJ8
      Related
      ENSP00000454966.1, OTTHUMP00000249895, ENST00000565574.5, OTTHUMT00000421692
      Conserved Domains (3) summary
      cd00033
      Location:3387
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00020
      Location:102340
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:103343
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    3. NM_005143.4NP_005134.1  haptoglobin isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_005134.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK314700, BC017862, BJ994335
      Consensus CDS
      CCDS45524.1
      UniProtKB/Swiss-Prot
      P00738
      UniProtKB/TrEMBL
      Q6PEJ8
      Related
      ENSP00000348170.5, OTTHUMP00000249890, ENST00000355906.9, OTTHUMT00000421680
      Conserved Domains (3) summary
      cd00033
      Location:3387
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00020
      Location:161399
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:162402
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      72054592..72061056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      73501839..73508303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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