LOCUS       NM_016633                488 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens alpha hemoglobin stabilizing protein (AHSP),
            transcript variant 1, mRNA.
ACCESSION   NM_016633
VERSION     NM_016633.4
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 488)
  AUTHORS   Vasseur,C., Domingues-Hamdi,E., Pakdaman,S., Galacteros,F. and
            Baudin-Creuza,V.
  TITLE     Alpha haemoglobin-stabilising protein concentration in the red
            blood cells of patients with sickle cell anaemia with and without
            hydroxycarbamide treatment
  JOURNAL   Br J Haematol 196 (1), 183-192 (2022)
   PUBMED   34378186
  REMARK    GeneRIF: Alpha haemoglobin-stabilising protein concentration in the
            red blood cells of patients with sickle cell anaemia with and
            without hydroxycarbamide treatment.
REFERENCE   2  (bases 1 to 488)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 488)
  AUTHORS   Ray,R., Kalantri,S.A., Bhattacharjee,S., Biswas,A., Shahab,A.,
            Biswas,S. and Bhattacharyya,M.
  TITLE     Association of alpha hemoglobin-stabilizing protein (AHSP) gene
            mutation and disease severity among HbE-beta thalassemia patients
  JOURNAL   Ann Hematol 98 (8), 1827-1834 (2019)
   PUBMED   31190133
  REMARK    GeneRIF: The study documents that among the HbE beta thalassemia
            patients with varying severity, an exon mutation in AHSP is
            significantly prevalent only among the transfusion-dependent
            beta-thalassemia patients.
REFERENCE   4  (bases 1 to 488)
  AUTHORS   Surapolchai,P., Chuansumrit,A., Sirachainan,N., Kadegasem,P.,
            Leung,K.C. and So,C.C.
  TITLE     A molecular study on the role of alpha-hemoglobin-stabilizing
            protein in hemoglobin H disease
  JOURNAL   Ann Hematol 96 (6), 1005-1014 (2017)
   PUBMED   28337528
  REMARK    GeneRIF: Findings indicate that alpha-hemoglobin-stabilizing
            protein (AHSP) expression is a biomarker of hemoglobin H (HbH)
            disease severity and infer an important role of AHSP in modulating
            the pathophysiology of this disease.
REFERENCE   5  (bases 1 to 488)
  AUTHORS   Strader,M.B., Kassa,T., Meng,F., Wood,F.B., Hirsch,R.E.,
            Friedman,J.M. and Alayash,A.I.
  TITLE     Oxidative instability of hemoglobin E (beta26 Glu-->Lys) is
            increased in the presence of free alpha subunits and reversed by
            alpha-hemoglobin stabilizing protein (AHSP): Relevance to
            HbE/beta-thalassemia
  JOURNAL   Redox Biol 8, 363-374 (2016)
   PUBMED   26995402
  REMARK    GeneRIF: In the presence of free alpha subunits and H2O2, both HbA
            and HbE showed bCys93 oxidation which increased with higher H2O2
            concentrations. In the presence of Alpha-hemoglobin stabilizing
            protein (AHSP)Cys93 oxidation was substantially reduced in both
            proteins.in the presence of excess free alpha-subunit and under the
            same oxidative conditions, these events are substantially increased
            for HbE compared to HbA
REFERENCE   6  (bases 1 to 488)
  AUTHORS   Gell,D., Kong,Y., Eaton,S.A., Weiss,M.J. and Mackay,J.P.
  TITLE     Biophysical characterization of the alpha-globin binding protein
            alpha-hemoglobin stabilizing protein
  JOURNAL   J Biol Chem 277 (43), 40602-40609 (2002)
   PUBMED   12192002
  REMARK    GeneRIF: determination as a predominantly alpha-helical globular
            protein with a somewhat asymmetric shape
REFERENCE   7  (bases 1 to 488)
  AUTHORS   Kihm,A.J., Kong,Y., Hong,W., Russell,J.E., Rouda,S., Adachi,K.,
            Simon,M.C., Blobel,G.A. and Weiss,M.J.
  TITLE     An abundant erythroid protein that stabilizes free
            alpha-haemoglobin
  JOURNAL   Nature 417 (6890), 758-763 (2002)
   PUBMED   12066189
  REMARK    GeneRIF: An abundant erythroid protein that stabilizes free
            alpha-haemoglobin.
REFERENCE   8  (bases 1 to 488)
  AUTHORS   Miele,G., Manson,J. and Clinton,M.
  TITLE     A novel erythroid-specific marker of transmissible spongiform
            encephalopathies
  JOURNAL   Nat Med 7 (3), 361-364 (2001)
   PUBMED   11231637
REFERENCE   9  (bases 1 to 488)
  AUTHORS   Gubin,A.N., Njoroge,J.M., Bouffard,G.G. and Miller,J.L.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
REFERENCE   10 (bases 1 to 488)
  AUTHORS   Choi,S.S., Yun,J.W., Choi,E.K., Cho,Y.G., Sung,Y.C. and Shin,H.S.
  TITLE     Construction of a gene expression profile of a human fetal liver by
            single-pass cDNA sequencing
  JOURNAL   Mamm Genome 6 (9), 653-657 (1995)
   PUBMED   8535075
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG940214.1 and AF112995.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016633.3.
            
            Summary: This gene encodes a molecular chaperone which binds
            specifically to free alpha-globin and is involved in hemoglobin
            assembly. The encoded protein binds to monomeric alpha-globin until
            it has been transferred to beta-globin to form a heterodimer, which
            in turn binds to another heterodimer to form the stable tetrameric
            hemoglobin. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2 and 3 encode the same protein.
            
            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 :: AF112995.1, AF147435.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302312.9/ ENSP00000307199.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-354               BG940214.1         4-357
            355-488             AF112995.1         434-567
FEATURES             Location/Qualifiers
     source          1..488
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..488
                     /gene="AHSP"
                     /gene_synonym="EDRF; ERAF"
                     /note="alpha hemoglobin stabilizing protein"
                     /db_xref="GeneID:51327"
                     /db_xref="HGNC:HGNC:18075"
                     /db_xref="MIM:605821"
     exon            1..63
                     /gene="AHSP"
                     /gene_synonym="EDRF; ERAF"
                     /inference="alignment:Splign:2.1.0"
     exon            64..142
                     /gene="AHSP"
                     /gene_synonym="EDRF; ERAF"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..376
                     /gene="AHSP"
                     /gene_synonym="EDRF; ERAF"
                     /note="alpha hemoglobin stabilising protein; erythroid
                     differentiation associated factor; erythroid
                     differentiation-related factor"
                     /codon_start=1
                     /product="alpha-hemoglobin-stabilizing protein"
                     /protein_id="NP_057717.1"
                     /db_xref="CCDS:CCDS10716.1"
                     /db_xref="GeneID:51327"
                     /db_xref="HGNC:HGNC:18075"
                     /db_xref="MIM:605821"
                     /translation="MALLKANKDLISAGLKEFSVLLNQQVFNDPLVSEEDMVTVVEDW
                     MNFYINYYRQQVTGEPQERDKALQELRQELNTLANPFLAKYRDFLKSHELPSHPPPSS
                     "
     exon            143..488
                     /gene="AHSP"
                     /gene_synonym="EDRF; ERAF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      461..466
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AHSP"
                     /gene_synonym="EDRF; ERAF"
                     /note="hexamer: AATAAA"
     polyA_site      488
                     /gene="AHSP"
                     /gene_synonym="EDRF; ERAF"
                     /note="major polyA site"
ORIGIN      
        1 acagagagat tcacgcaccc tcaagagtgt gggtgagaca tatacagcct gttagacctg
       61 aaggcagatg gctcttctta aggccaataa ggatctcatt tccgcaggat tgaaggagtt
      121 cagcgttctg ctgaatcagc aggtcttcaa tgatcctctc gtctctgaag aagacatggt
      181 gactgtggtg gaggactgga tgaacttcta catcaactat tacaggcagc aggtgacagg
      241 ggagccccaa gagcgagaca aggctctgca ggagcttcgg caagagctga acactctggc
      301 caaccctttc ctggccaagt acagggactt cctgaagtct catgagctcc cgagtcaccc
      361 accgccctcc tcctagctca gggacccagc ccctcctctc tgagaaactc tgaccttcat
      421 gtccttaggc tgtgctcctg ccactctacc ctgacacctc aataaagacc agtgctggtt
      481 ttgttgga
//
