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    HP haptoglobin [ Homo sapiens (human) ]

    Gene ID: 3240, updated on 17-Jun-2024

    Summary

    Official Symbol
    HPprovided by HGNC
    Official Full Name
    haptoglobinprovided by HGNC
    Primary source
    HGNC:HGNC:5141
    See related
    Ensembl:ENSG00000257017 MIM:140100; AllianceGenome:HGNC:5141
    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]
    Expression
    Restricted expression toward liver (RPKM 13200.4) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    16q22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (72054505..72061055)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77872534..77877369)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72088404..72094954)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr16:72042438-72042637 Neighboring gene ATP synthase F1 subunit alpha pseudogene 3 Neighboring gene dihydroorotate dehydrogenase (quinone) Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:72057307-72058506 Neighboring gene haptoglobin-related protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11090 Neighboring gene thioredoxin like 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11091 Neighboring gene DEAH-box helicase 38

    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

    Associated conditions

    Description Tests
    Anhaptoglobinemia
    MedGen: C3279786 OMIM: 614081 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC111141

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antioxidant activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hemoglobin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    haptoglobin
    Names
    binding peptide
    haptoglobin alpha(1S)-beta
    haptoglobin alpha(2FS)-beta
    haptoglobin, alpha polypeptide
    haptoglobin, beta polypeptide
    zonulin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4897..11447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001126102.3NP_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)
      AC009087, AK314700, BC107587, BJ994335
      Consensus CDS
      CCDS45525.1
      UniProtKB/TrEMBL
      J3QR68
      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_001318138.2NP_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)
      AC009087, BC017862, BC121124, BJ994335
      Consensus CDS
      CCDS82010.1
      UniProtKB/TrEMBL
      A0A0C4DGL8, J3QR68
      Related
      ENSP00000454966.1, ENST00000565574.5
      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_005143.5NP_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)
      AC009087, AK314700, BC017862, BJ994335
      Consensus CDS
      CCDS45524.1
      UniProtKB/Swiss-Prot
      B0AZL5, P00737, P00738, Q0VAC4, Q0VAC5, Q2PP15, Q3B7J0, Q6LBY9, Q9UC67
      UniProtKB/TrEMBL
      J3QR68
      Related
      ENSP00000348170.5, ENST00000355906.10
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      72054505..72061055
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      77872534..77877369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)