Full text data of HBQ1
HBQ1
[Confidence: low (only semi-automatic identification from reviews)]
Hemoglobin subunit theta-1 (Hemoglobin theta-1 chain; Theta-1-globin)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Hemoglobin subunit theta-1 (Hemoglobin theta-1 chain; Theta-1-globin)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
P09105
ID HBAT_HUMAN Reviewed; 142 AA.
AC P09105; Q13723; Q1W6G5;
DT 01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 2.
DT 22-JAN-2014, entry version 122.
DE RecName: Full=Hemoglobin subunit theta-1;
DE AltName: Full=Hemoglobin theta-1 chain;
DE AltName: Full=Theta-1-globin;
GN Name=HBQ1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=3422341; DOI=10.1038/331094a0;
RA Hsu S.-L., Marks J., Shaw J.-P., Tam M., Higgs D.R., Shen C.C.,
RA Shen C.-K.J.;
RT "Structure and expression of the human theta 1 globin gene.";
RL Nature 331:94-96(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=3408475; DOI=10.1007/BF00561460;
RA Gonzalez-Redondo J.M., Han I.S., Gu Y.C., Huisman T.H.J.;
RT "Nucleotide sequence of the human theta 1-globin gene.";
RL Biochem. Genet. 26:207-211(1988).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=16728641; DOI=10.1126/science.1126431;
RA De Gobbi M., Viprakasit V., Hughes J.R., Fisher C., Buckle V.J.,
RA Ayyub H., Gibbons R.J., Vernimmen D., Yoshinaga Y., de Jong P.,
RA Cheng J.-F., Rubin E.M., Wood W.G., Bowden D., Higgs D.R.;
RT "A regulatory SNP causes a human genetic disease by creating a new
RT transcriptional promoter.";
RL Science 312:1215-1217(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K.,
RA Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J.,
RA Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2
RT Mb of the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-14.
RC TISSUE=Liver;
RX PubMed=2569721; DOI=10.1093/nar/17.14.5687;
RA Kim J.H., Yu C.Y., Bailey A.D., Hardison R., Shen C.-K.J.;
RT "Unique sequence organization and erythroid cell-specific nuclear
RT factor-binding of mammalian theta 1 globin promoters.";
RL Nucleic Acids Res. 17:5687-5700(1989).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- SIMILARITY: Belongs to the globin family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; X06482; CAA29776.1; -; Genomic_DNA.
DR EMBL; M33022; AAA52640.1; -; Genomic_DNA.
DR EMBL; DQ431198; ABD95912.1; -; Genomic_DNA.
DR EMBL; AE006462; AAK61217.1; -; Genomic_DNA.
DR EMBL; BC056686; AAH56686.1; -; mRNA.
DR EMBL; M91453; AAA58362.1; -; Genomic_DNA.
DR PIR; I52337; HTHU.
DR RefSeq; NP_005322.1; NM_005331.4.
DR UniGene; Hs.247921; -.
DR ProteinModelPortal; P09105; -.
DR SMR; P09105; 3-142.
DR STRING; 9606.ENSP00000199708; -.
DR PhosphoSite; P09105; -.
DR DMDM; 122330; -.
DR PaxDb; P09105; -.
DR PRIDE; P09105; -.
DR Ensembl; ENST00000199708; ENSP00000199708; ENSG00000086506.
DR GeneID; 3049; -.
DR KEGG; hsa:3049; -.
DR UCSC; uc002cfz.3; human.
DR CTD; 3049; -.
DR GeneCards; GC16P000283; -.
DR HGNC; HGNC:4833; HBQ1.
DR HPA; HPA049111; -.
DR MIM; 142240; gene.
DR neXtProt; NX_P09105; -.
DR PharmGKB; PA29208; -.
DR eggNOG; NOG299570; -.
DR HOGENOM; HOG000036867; -.
DR HOVERGEN; HBG009709; -.
DR InParanoid; P09105; -.
DR KO; K13827; -.
DR OMA; GVYTTEA; -.
DR OrthoDB; EOG7KH9MP; -.
DR PhylomeDB; P09105; -.
DR GeneWiki; HBQ1; -.
DR GenomeRNAi; 3049; -.
DR NextBio; 12071; -.
DR PRO; PR:P09105; -.
DR Bgee; P09105; -.
DR CleanEx; HS_HBQ1; -.
DR Genevestigator; P09105; -.
DR GO; GO:0005833; C:hemoglobin complex; TAS:ProtInc.
DR GO; GO:0020037; F:heme binding; IEA:InterPro.
DR GO; GO:0005506; F:iron ion binding; IEA:InterPro.
DR GO; GO:0019825; F:oxygen binding; IEA:InterPro.
DR GO; GO:0005344; F:oxygen transporter activity; IEA:UniProtKB-KW.
DR GO; GO:0015671; P:oxygen transport; TAS:ProtInc.
DR Gene3D; 1.10.490.10; -; 1.
DR InterPro; IPR000971; Globin.
DR InterPro; IPR009050; Globin-like.
DR InterPro; IPR012292; Globin_dom.
DR InterPro; IPR002338; Haemoglobin_a.
DR InterPro; IPR002339; Haemoglobin_pi.
DR Pfam; PF00042; Globin; 1.
DR PRINTS; PR00612; ALPHAHAEM.
DR PRINTS; PR00815; PIHAEM.
DR SUPFAM; SSF46458; SSF46458; 1.
DR PROSITE; PS01033; GLOBIN; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Heme; Iron; Metal-binding; Oxygen transport;
KW Reference proteome; Transport.
FT CHAIN 1 142 Hemoglobin subunit theta-1.
FT /FTId=PRO_0000052846.
FT METAL 59 59 Iron (heme distal ligand).
FT METAL 88 88 Iron (heme proximal ligand).
SQ SEQUENCE 142 AA; 15508 MW; 9D4F103D758694D6 CRC64;
MALSAEDRAL VRALWKKLGS NVGVYTTEAL ERTFLAFPAT KTYFSHLDLS PGSSQVRAHG
QKVADALSLA VERLDDLPHA LSALSHLHAC QLRVDPASFQ LLGHCLLVTL ARHYPGDFSP
ALQASLDKFL SHVISALVSE YR
//
ID HBAT_HUMAN Reviewed; 142 AA.
AC P09105; Q13723; Q1W6G5;
DT 01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 2.
DT 22-JAN-2014, entry version 122.
DE RecName: Full=Hemoglobin subunit theta-1;
DE AltName: Full=Hemoglobin theta-1 chain;
DE AltName: Full=Theta-1-globin;
GN Name=HBQ1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=3422341; DOI=10.1038/331094a0;
RA Hsu S.-L., Marks J., Shaw J.-P., Tam M., Higgs D.R., Shen C.C.,
RA Shen C.-K.J.;
RT "Structure and expression of the human theta 1 globin gene.";
RL Nature 331:94-96(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=3408475; DOI=10.1007/BF00561460;
RA Gonzalez-Redondo J.M., Han I.S., Gu Y.C., Huisman T.H.J.;
RT "Nucleotide sequence of the human theta 1-globin gene.";
RL Biochem. Genet. 26:207-211(1988).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=16728641; DOI=10.1126/science.1126431;
RA De Gobbi M., Viprakasit V., Hughes J.R., Fisher C., Buckle V.J.,
RA Ayyub H., Gibbons R.J., Vernimmen D., Yoshinaga Y., de Jong P.,
RA Cheng J.-F., Rubin E.M., Wood W.G., Bowden D., Higgs D.R.;
RT "A regulatory SNP causes a human genetic disease by creating a new
RT transcriptional promoter.";
RL Science 312:1215-1217(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K.,
RA Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J.,
RA Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2
RT Mb of the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-14.
RC TISSUE=Liver;
RX PubMed=2569721; DOI=10.1093/nar/17.14.5687;
RA Kim J.H., Yu C.Y., Bailey A.D., Hardison R., Shen C.-K.J.;
RT "Unique sequence organization and erythroid cell-specific nuclear
RT factor-binding of mammalian theta 1 globin promoters.";
RL Nucleic Acids Res. 17:5687-5700(1989).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- SIMILARITY: Belongs to the globin family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; X06482; CAA29776.1; -; Genomic_DNA.
DR EMBL; M33022; AAA52640.1; -; Genomic_DNA.
DR EMBL; DQ431198; ABD95912.1; -; Genomic_DNA.
DR EMBL; AE006462; AAK61217.1; -; Genomic_DNA.
DR EMBL; BC056686; AAH56686.1; -; mRNA.
DR EMBL; M91453; AAA58362.1; -; Genomic_DNA.
DR PIR; I52337; HTHU.
DR RefSeq; NP_005322.1; NM_005331.4.
DR UniGene; Hs.247921; -.
DR ProteinModelPortal; P09105; -.
DR SMR; P09105; 3-142.
DR STRING; 9606.ENSP00000199708; -.
DR PhosphoSite; P09105; -.
DR DMDM; 122330; -.
DR PaxDb; P09105; -.
DR PRIDE; P09105; -.
DR Ensembl; ENST00000199708; ENSP00000199708; ENSG00000086506.
DR GeneID; 3049; -.
DR KEGG; hsa:3049; -.
DR UCSC; uc002cfz.3; human.
DR CTD; 3049; -.
DR GeneCards; GC16P000283; -.
DR HGNC; HGNC:4833; HBQ1.
DR HPA; HPA049111; -.
DR MIM; 142240; gene.
DR neXtProt; NX_P09105; -.
DR PharmGKB; PA29208; -.
DR eggNOG; NOG299570; -.
DR HOGENOM; HOG000036867; -.
DR HOVERGEN; HBG009709; -.
DR InParanoid; P09105; -.
DR KO; K13827; -.
DR OMA; GVYTTEA; -.
DR OrthoDB; EOG7KH9MP; -.
DR PhylomeDB; P09105; -.
DR GeneWiki; HBQ1; -.
DR GenomeRNAi; 3049; -.
DR NextBio; 12071; -.
DR PRO; PR:P09105; -.
DR Bgee; P09105; -.
DR CleanEx; HS_HBQ1; -.
DR Genevestigator; P09105; -.
DR GO; GO:0005833; C:hemoglobin complex; TAS:ProtInc.
DR GO; GO:0020037; F:heme binding; IEA:InterPro.
DR GO; GO:0005506; F:iron ion binding; IEA:InterPro.
DR GO; GO:0019825; F:oxygen binding; IEA:InterPro.
DR GO; GO:0005344; F:oxygen transporter activity; IEA:UniProtKB-KW.
DR GO; GO:0015671; P:oxygen transport; TAS:ProtInc.
DR Gene3D; 1.10.490.10; -; 1.
DR InterPro; IPR000971; Globin.
DR InterPro; IPR009050; Globin-like.
DR InterPro; IPR012292; Globin_dom.
DR InterPro; IPR002338; Haemoglobin_a.
DR InterPro; IPR002339; Haemoglobin_pi.
DR Pfam; PF00042; Globin; 1.
DR PRINTS; PR00612; ALPHAHAEM.
DR PRINTS; PR00815; PIHAEM.
DR SUPFAM; SSF46458; SSF46458; 1.
DR PROSITE; PS01033; GLOBIN; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Heme; Iron; Metal-binding; Oxygen transport;
KW Reference proteome; Transport.
FT CHAIN 1 142 Hemoglobin subunit theta-1.
FT /FTId=PRO_0000052846.
FT METAL 59 59 Iron (heme distal ligand).
FT METAL 88 88 Iron (heme proximal ligand).
SQ SEQUENCE 142 AA; 15508 MW; 9D4F103D758694D6 CRC64;
MALSAEDRAL VRALWKKLGS NVGVYTTEAL ERTFLAFPAT KTYFSHLDLS PGSSQVRAHG
QKVADALSLA VERLDDLPHA LSALSHLHAC QLRVDPASFQ LLGHCLLVTL ARHYPGDFSP
ALQASLDKFL SHVISALVSE YR
//
MIM
142240
*RECORD*
*FIELD* NO
142240
*FIELD* TI
*142240 HEMOGLOBIN--THETA-1 LOCUS; HBQ1
*FIELD* TX
Studying the orangutan, Marks et al. (1986) discovered a 'new'
read morefunctional globin gene in the alpha cluster (16p13.33-p13.11). The
orangutan gene, called theta-1, has all the sequence elements necessary
for an expressible, protein-coding gene although its actual expression
and function are unknown. Theta-1 in the orangutan is located 3 kb
downstream from the adult alpha-1 gene. The putative polypeptide for
which it codes is 141 amino acids long, identical to the alpha and zeta
globins. It differs from orangutan alpha globin (by 55 aa) as much as
human alpha and zeta differ (by 59 aa), suggesting an ancient origin of
the theta-1 gene. Marks et al. (1986) cloned the theta-1 gene in man and
found map arrangements similar to those in orangutan and baboon. Peschle
et al. (1985) found as yet uncharacterized globin polypeptides in early
stages of human embryo development. The theta-1 gene may be expressed
very early in embryonic life, perhaps sometime before 5 weeks. Clegg
(1987) concluded that the predicted amino acid sequence of the theta-1
gene suggests that any 'globin' product is likely to be nonviable
because of seriously deleterious amino acid replacements. Some of these
amino acid changes are shared by horse, rabbit, and primate, indicating
that they predate the mammalian radiation, and that if indeed any of
these genes are still functional, they are unlikely to be making
hemoglobin. Leung et al. (1987), however, demonstrated theta-globin
messenger RNA in human fetal erythroid tissue but not in adult erythroid
or other nonerythroid tissue; furthermore, they could detect
theta-globin mRNA in significant amounts in a human erythroleukemic cell
line. Surprisingly, the promoter sequence of theta-globin did not
correspond to the CCAAT and ATA box sequences of the gene, but rather
was found to lie in the adjacent GC-rich sequence. This type of promoter
is reminiscent of that found in housekeeping genes such as ADA (608958)
and HPRT (308000). Hsu et al. (1988) reported that both theta-1 genes
are split into 3 exons with the potential to code for a 141-amino acid
polypeptide. They presented the complete DNA sequence of a cloned
theta-1 gene of man, and showed that it contained no apparent defects
that would abolish its expression. Furthermore, they showed that the
gene is transcribed in an erythroleukemia cell line. The findings
supported a transcriptionally active role for the gene and a functional
role for the peptide in specific cells, possibly those of early
erythroid tissue. Fei et al. (1988) described 2 different theta-1 globin
gene deletions in blacks. No hematologic alterations were associated.
Utsch et al. (2001) diagrammed the position of the globin genes on
chromosome 16p as follows:
5-prime-zeta--pseudo-zeta--pseudo-alpha--alpha-1--alpha-2--theta-1-3-prime.
Utsch et al. (2001) cited unpublished evidence that a theta-2 locus is
on chromosome 10.
*FIELD* SA
Marks et al. (1986)
*FIELD* RF
1. Clegg, J. B.: Can the product of the theta gene be a real globin? Nature 329:
465-466, 1987.
2. Fei, Y. J.; Fujita, S.; Huisman, T. H. J.: Two different theta
globin gene deletions observed among black newborn babies. Brit.
J. Haemat. 68: 249-253, 1988.
3. Hsu, S.-L.; Marks, J.; Shaw, J.-P.; Tam, M.; Higgs, D. R.; Shen,
C. C.; Shen, C.-K. J.: Structure and expression of the human theta-1
globin gene. Nature 331: 94-96, 1988.
4. Leung, S.; Proudfoot, N. J.; Whitelaw, E.: The gene for theta-globin
is transcribed in human fetal erythroid tissues. Nature 329: 551-554,
1987.
5. Marks, J.; Shaw, J.-P.; Perez-Stabile, C.; Hu, W.-S.; Ayres, T.
M.; Shen, C.; Shen, C.-K. J.: The primate alpha-globin gene family:
a paradigm of the fluid genome. Cold Spring Harbor Symp. Quant. Biol. 51:
499-508, 1986.
6. Marks, J.; Shaw, J.-P.; Shen, C.-K. J.: Sequence organization
and genomic complexity of primary theta-1 globin gene, a novel alpha-globin-like
gene. Nature 321: 785-788, 1986.
7. Peschle, C.; Mavilio, F.; Care, A.; Migliaccio, G.; Migliaccio,
A. R.; Salvo, G.; Samoggia, P.; Petti, S.; Guerriero, R.; Marinucci,
M.; Lazzaro, D.; Russo, G.; Mastroberardino, G.: Haemoglobin switching
in human embryos: asynchrony of zeta-to-alpha- and epsilon-to-gamma-globin
switches in primitive and definitive erythropoietic lineage. Nature 313:
235-238, 1985.
8. Utsch, B.; Albers, N.; Dame, C.; Bartmann, P.; Lentze, M. J.; Ludwig,
M.: Homozygous alpha-thalassemia associated with hypospadias: SEA-type
deletion does not affect expression of the -14 gene and loss of the
theta-1-globin gene on 16p13.3 is compensated by its duplicate theta-2
on chromosome 10. (Letter) Am. J. Med. Genet. 101: 286-287, 2001.
*FIELD* CN
Victor A. McKusick - updated: 7/30/2001
*FIELD* CD
Victor A. McKusick: 10/16/1986
*FIELD* ED
ckniffin: 10/28/2004
cwells: 8/10/2001
terry: 7/30/2001
terry: 4/30/1999
mimadm: 9/24/1994
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/27/1989
carol: 4/20/1989
carol: 3/26/1988
*RECORD*
*FIELD* NO
142240
*FIELD* TI
*142240 HEMOGLOBIN--THETA-1 LOCUS; HBQ1
*FIELD* TX
Studying the orangutan, Marks et al. (1986) discovered a 'new'
read morefunctional globin gene in the alpha cluster (16p13.33-p13.11). The
orangutan gene, called theta-1, has all the sequence elements necessary
for an expressible, protein-coding gene although its actual expression
and function are unknown. Theta-1 in the orangutan is located 3 kb
downstream from the adult alpha-1 gene. The putative polypeptide for
which it codes is 141 amino acids long, identical to the alpha and zeta
globins. It differs from orangutan alpha globin (by 55 aa) as much as
human alpha and zeta differ (by 59 aa), suggesting an ancient origin of
the theta-1 gene. Marks et al. (1986) cloned the theta-1 gene in man and
found map arrangements similar to those in orangutan and baboon. Peschle
et al. (1985) found as yet uncharacterized globin polypeptides in early
stages of human embryo development. The theta-1 gene may be expressed
very early in embryonic life, perhaps sometime before 5 weeks. Clegg
(1987) concluded that the predicted amino acid sequence of the theta-1
gene suggests that any 'globin' product is likely to be nonviable
because of seriously deleterious amino acid replacements. Some of these
amino acid changes are shared by horse, rabbit, and primate, indicating
that they predate the mammalian radiation, and that if indeed any of
these genes are still functional, they are unlikely to be making
hemoglobin. Leung et al. (1987), however, demonstrated theta-globin
messenger RNA in human fetal erythroid tissue but not in adult erythroid
or other nonerythroid tissue; furthermore, they could detect
theta-globin mRNA in significant amounts in a human erythroleukemic cell
line. Surprisingly, the promoter sequence of theta-globin did not
correspond to the CCAAT and ATA box sequences of the gene, but rather
was found to lie in the adjacent GC-rich sequence. This type of promoter
is reminiscent of that found in housekeeping genes such as ADA (608958)
and HPRT (308000). Hsu et al. (1988) reported that both theta-1 genes
are split into 3 exons with the potential to code for a 141-amino acid
polypeptide. They presented the complete DNA sequence of a cloned
theta-1 gene of man, and showed that it contained no apparent defects
that would abolish its expression. Furthermore, they showed that the
gene is transcribed in an erythroleukemia cell line. The findings
supported a transcriptionally active role for the gene and a functional
role for the peptide in specific cells, possibly those of early
erythroid tissue. Fei et al. (1988) described 2 different theta-1 globin
gene deletions in blacks. No hematologic alterations were associated.
Utsch et al. (2001) diagrammed the position of the globin genes on
chromosome 16p as follows:
5-prime-zeta--pseudo-zeta--pseudo-alpha--alpha-1--alpha-2--theta-1-3-prime.
Utsch et al. (2001) cited unpublished evidence that a theta-2 locus is
on chromosome 10.
*FIELD* SA
Marks et al. (1986)
*FIELD* RF
1. Clegg, J. B.: Can the product of the theta gene be a real globin? Nature 329:
465-466, 1987.
2. Fei, Y. J.; Fujita, S.; Huisman, T. H. J.: Two different theta
globin gene deletions observed among black newborn babies. Brit.
J. Haemat. 68: 249-253, 1988.
3. Hsu, S.-L.; Marks, J.; Shaw, J.-P.; Tam, M.; Higgs, D. R.; Shen,
C. C.; Shen, C.-K. J.: Structure and expression of the human theta-1
globin gene. Nature 331: 94-96, 1988.
4. Leung, S.; Proudfoot, N. J.; Whitelaw, E.: The gene for theta-globin
is transcribed in human fetal erythroid tissues. Nature 329: 551-554,
1987.
5. Marks, J.; Shaw, J.-P.; Perez-Stabile, C.; Hu, W.-S.; Ayres, T.
M.; Shen, C.; Shen, C.-K. J.: The primate alpha-globin gene family:
a paradigm of the fluid genome. Cold Spring Harbor Symp. Quant. Biol. 51:
499-508, 1986.
6. Marks, J.; Shaw, J.-P.; Shen, C.-K. J.: Sequence organization
and genomic complexity of primary theta-1 globin gene, a novel alpha-globin-like
gene. Nature 321: 785-788, 1986.
7. Peschle, C.; Mavilio, F.; Care, A.; Migliaccio, G.; Migliaccio,
A. R.; Salvo, G.; Samoggia, P.; Petti, S.; Guerriero, R.; Marinucci,
M.; Lazzaro, D.; Russo, G.; Mastroberardino, G.: Haemoglobin switching
in human embryos: asynchrony of zeta-to-alpha- and epsilon-to-gamma-globin
switches in primitive and definitive erythropoietic lineage. Nature 313:
235-238, 1985.
8. Utsch, B.; Albers, N.; Dame, C.; Bartmann, P.; Lentze, M. J.; Ludwig,
M.: Homozygous alpha-thalassemia associated with hypospadias: SEA-type
deletion does not affect expression of the -14 gene and loss of the
theta-1-globin gene on 16p13.3 is compensated by its duplicate theta-2
on chromosome 10. (Letter) Am. J. Med. Genet. 101: 286-287, 2001.
*FIELD* CN
Victor A. McKusick - updated: 7/30/2001
*FIELD* CD
Victor A. McKusick: 10/16/1986
*FIELD* ED
ckniffin: 10/28/2004
cwells: 8/10/2001
terry: 7/30/2001
terry: 4/30/1999
mimadm: 9/24/1994
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/27/1989
carol: 4/20/1989
carol: 3/26/1988