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HP haptoglobin [ Homo sapiens (human) ]

Gene ID: 3240, updated on 5-Jul-2025
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
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Try the new Transcript table
Location:
16q22.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (72054505..72061055)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77872534..77877369)
RS_2024_09 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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

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 hemoglobin binding IEA
Inferred from Electronic Annotation
more info
 
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
 
Process Evidence Code Pubs
involved_in acute-phase response IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
involved_in defense response TAS
Traceable Author Statement
more info
PubMed 
involved_in defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
involved_in immune system process IEA
Inferred from Electronic Annotation
more info
 
involved_in inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of hydrogen peroxide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
involved_in zymogen activation IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
haptoglobin
Names
binding peptide
haptoglobin alpha(1S)-beta
haptoglobin alpha(2FS)-beta
haptoglobin, alpha polypeptide
haptoglobin, beta polypeptide
zonulin

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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_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_2024_08

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)