LOCUS       NM_005143               1534 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.
ACCESSION   NM_005143
VERSION     NM_005143.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1534)
  AUTHORS   Liu,L., Hao,S., Gou,S., Tang,X., Zhang,Y., Cai,D., Xiao,M.,
            Zhang,X., Zhang,D., Shen,J., Li,Y., Chen,Y., Zhao,Y., Deng,S.,
            Wu,X., Li,M., Zhang,Z., Xiao,Z. and Du,F.
  TITLE     Potential applications of dual haptoglobin expression in the
            reclassification and treatment of hepatocellular carcinoma
  JOURNAL   Transl Res 272, 19-40 (2024)
   PUBMED   38815898
  REMARK    GeneRIF: Potential applications of dual haptoglobin expression in
            the reclassification and treatment of hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 1534)
  AUTHORS   Healy,C., Byrne,J., Raj Suasi,S., Focking,M., Mongan,D.,
            Kodosaki,E., Heurich,M., Cagney,G., Wynne,K., Bearden,C.E.,
            Woods,S.W., Cornblatt,B., Mathalon,D., Stone,W., Cannon,T.D.,
            Addington,J., Cadenhead,K.S., Perkins,D., Jeffries,C. and Cotter,D.
  TITLE     Differential expression of haptoglobin in individuals at clinical
            high risk of psychosis and its association with global functioning
            and clinical symptoms
  JOURNAL   Brain Behav Immun 117, 175-180 (2024)
   PUBMED   38219978
  REMARK    GeneRIF: Differential expression of haptoglobin in individuals at
            clinical high risk of psychosis and its association with global
            functioning and clinical symptoms.
REFERENCE   3  (bases 1 to 1534)
  AUTHORS   El-Raufe El-Masry,S.A., Mahmoud,R.A., Hassan,N.E., Aly,M.M.,
            Abdallah,H.R., Hamdy,S., Megahed,S. and Elalfy,D.Y.
  TITLE     Zonulin and copeptin relation to some metabolic markers in
            school-aged obese children
  JOURNAL   BMC Pediatr 24 (1), 140 (2024)
   PUBMED   38402172
  REMARK    GeneRIF: Zonulin and copeptin relation to some metabolic markers in
            school-aged obese children.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1534)
  AUTHORS   Bandyopadhyay,S., Garland,P., Gaastra,B., Zolnourian,A., Bulters,D.
            and Galea,I.
  TITLE     The Haptoglobin Response after Aneurysmal Subarachnoid Haemorrhage
  JOURNAL   Int J Mol Sci 24 (23), 16922 (2023)
   PUBMED   38069244
  REMARK    GeneRIF: The Haptoglobin Response after Aneurysmal Subarachnoid
            Haemorrhage.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1534)
  AUTHORS   Fasano,A.
  TITLE     Zonulin and its regulation of intestinal barrier function: the
            biological door to inflammation, autoimmunity, and cancer
  JOURNAL   Physiol Rev 91 (1), 151-175 (2011)
   PUBMED   21248165
  REMARK    GeneRIF: Antimicrobial protein, zonulin, has antibacterial activity
            and functions in regulation of intestinal barrier function.
            Review article
REFERENCE   6  (bases 1 to 1534)
  AUTHORS   Erickson,L.M., Kim,H.S. and Maeda,N.
  TITLE     Junctions between genes in the haptoglobin gene cluster of primates
  JOURNAL   Genomics 14 (4), 948-958 (1992)
   PUBMED   1478675
REFERENCE   7  (bases 1 to 1534)
  AUTHORS   Oliviero,S. and Cortese,R.
  TITLE     The human haptoglobin gene promoter: interleukin-6-responsive
            elements interact with a DNA-binding protein induced by
            interleukin-6
  JOURNAL   EMBO J 8 (4), 1145-1151 (1989)
   PUBMED   2787245
  REMARK    Erratum:[EMBO J 1989 Jul;8(7):2121]
REFERENCE   8  (bases 1 to 1534)
  AUTHORS   Oliviero,S., Morrone,G. and Cortese,R.
  TITLE     The human haptoglobin gene: transcriptional regulation during
            development and acute phase induction
  JOURNAL   EMBO J 6 (7), 1905-1912 (1987)
   PUBMED   2820712
REFERENCE   9  (bases 1 to 1534)
  AUTHORS   Maeda,N.
  TITLE     Nucleotide sequence of the haptoglobin and haptoglobin-related gene
            pair. The haptoglobin-related gene contains a retrovirus-like
            element
  JOURNAL   J Biol Chem 260 (11), 6698-6709 (1985)
   PUBMED   2987228
REFERENCE   10 (bases 1 to 1534)
  AUTHORS   Kurosky,A., Barnett,D.R., Lee,T.H., Touchstone,B., Hay,R.E.,
            Arnott,M.S., Bowman,B.H. and Fitch,W.M.
  TITLE     Covalent structure of human haptoglobin: a serine protease homolog
  JOURNAL   Proc Natl Acad Sci U S A 77 (6), 3388-3392 (1980)
   PUBMED   6997877
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009087.4, BJ994335.1,
            AK314700.1 and BC017862.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005143.4.
            
            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].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.53375.1,
                                           SRR5189664.63984.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG   :: experimental evidence
                                                  (PMID:6997877)
            MANE Ensembl match                 :: ENST00000355906.10/
                                                  ENSP00000348170.5
            Protein has antimicrobial activity :: PMID: 21248165
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                AC009087.4         62787-62873         c
            88-118              BJ994335.1         1-31
            119-1369            AK314700.1         1-1251
            1370-1534           BC017862.1         1037-1201
FEATURES             Location/Qualifiers
     source          1..1534
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.2"
     gene            1..1534
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /note="haptoglobin"
                     /db_xref="GeneID:3240"
                     /db_xref="HGNC:HGNC:5141"
                     /db_xref="MIM:140100"
     exon            1..153
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..1369
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; haptoglobin alpha(1S)-beta; haptoglobin
                     alpha(2FS)-beta; haptoglobin, alpha polypeptide;
                     haptoglobin, beta polypeptide; binding peptide; zonulin"
                     /codon_start=1
                     /product="haptoglobin isoform 1 preproprotein"
                     /protein_id="NP_005134.1"
                     /db_xref="CCDS:CCDS45524.1"
                     /db_xref="GeneID:3240"
                     /db_xref="HGNC:HGNC:5141"
                     /db_xref="MIM:140100"
                     /translation="MSALGAVIALLLWGQLFAVDSGNDVTDIADDGCPKPPEIAHGYV
                     EHSVRYQCKNYYKLRTEGDGVYTLNDKKQWINKAVGDKLPECEADDGCPKPPEIAHGY
                     VEHSVRYQCKNYYKLRTEGDGVYTLNNEKQWINKAVGDKLPECEAVCGKPKNPANPVQ
                     RILGGHLDAKGSFPWQAKMVSHHNLTTGATLINEQWLLTTAKNLFLNHSENATAKDIA
                     PTLTLYVGKKQLVEIEKVVLHPNYSQVDIGLIKLKQKVSVNERVMPICLPSKDYAEVG
                     RVGYVSGWGRNANFKFTDHLKYVMLPVADQDQCIRHYEGSTVPEKKTPKSPVGVQPIL
                     NEHTFCAGMSKYQEDTCYGDAGSAFAVHDLEEDTWYATGILSFDKSCAVAEYGVYVKV
                     TSIQDWVQKTIAEN"
     exon            154..236
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /inference="alignment:Splign:2.1.0"
     exon            237..338
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /inference="alignment:Splign:2.1.0"
     exon            339..413
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /inference="alignment:Splign:2.1.0"
     exon            414..515
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /inference="alignment:Splign:2.1.0"
     exon            516..590
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /inference="alignment:Splign:2.1.0"
     exon            591..1534
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1511..1516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /note="hexamer: AATAAA"
     polyA_site      1534
                     /gene="HP"
                     /gene_synonym="BP; HP2ALPHA2; HPA1S"
                     /note="major polyA site"
ORIGIN      
        1 actggaaaag atagtgacct taccagggcc aaagtttgta gacacaggaa ttacgaaatg
       61 gagaaggggg agaagtgagc tagtggcagc ataaaaagac cagcagatgc cccacagcac
      121 tgctcttcca gaggcaagac caaccaagat gagtgccctg ggagctgtca ttgccctcct
      181 gctctgggga cagctttttg cagtggactc aggcaatgat gtcacggata tcgcagatga
      241 cggctgcccg aagccccccg agattgcaca tggctatgtg gagcactcgg ttcgctacca
      301 gtgtaagaac tactacaaac tgcgcacaga aggagatgga gtatacacct taaatgataa
      361 gaagcagtgg ataaataagg ctgttggaga taaacttcct gaatgtgaag cagatgacgg
      421 ctgcccgaag ccccccgaga ttgcacatgg ctatgtggag cactcggttc gctaccagtg
      481 taagaactac tacaaactgc gcacagaagg agatggagtg tacaccttaa acaatgagaa
      541 gcagtggata aataaggctg ttggagataa acttcctgaa tgtgaagcag tatgtgggaa
      601 gcccaagaat ccggcaaacc cagtgcagcg gatcctgggt ggacacctgg atgccaaagg
      661 cagctttccc tggcaggcta agatggtttc ccaccataat ctcaccacag gtgccacgct
      721 gatcaatgaa caatggctgc tgaccacggc taaaaatctc ttcctgaacc attcagaaaa
      781 tgcaacagcg aaagacattg cccctacttt aacactctat gtggggaaaa agcagcttgt
      841 agagattgag aaggttgttc tacaccctaa ctactcccag gtagatattg ggctcatcaa
      901 actcaaacag aaggtgtctg ttaatgagag agtgatgccc atctgcctac cttcaaagga
      961 ttatgcagaa gtagggcgtg tgggttatgt ttctggctgg gggcgaaatg ccaattttaa
     1021 atttactgac catctgaagt atgtcatgct gcctgtggct gaccaagacc aatgcataag
     1081 gcattatgaa ggcagcacag tccccgaaaa gaagacaccg aagagccctg taggggtgca
     1141 gcccatactg aatgaacaca ccttctgtgc tggcatgtct aagtaccaag aagacacctg
     1201 ctatggcgat gcgggcagtg cctttgccgt tcacgacctg gaggaggaca cctggtatgc
     1261 gactgggatc ttaagctttg ataagagctg tgctgtggct gagtatggtg tgtatgtgaa
     1321 ggtgacttcc atccaggact gggttcagaa gaccatagct gagaactaat gcaaggctgg
     1381 ccggaagccc ttgcctgaaa gcaagatttc agcctggaag agggcaaagt ggacgggagt
     1441 ggacaggagt ggatgcgata agatgtggtt tgaagctgat gggtgccagc cctgcattgc
     1501 tgagtcaatc aataaagagc tttcttttga ccca
//
