Hemoglobin subunit gamma-1 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot P69891 (HBG1_HUMAN)

Last modified November 25, 2008. Version 58. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Hemoglobin subunit gamma-1
Alternative name(s):
    Hemoglobin gamma-1 chain
    Gamma-1-globin
    Hemoglobin gamma-A chain
    Hb F Agamma

Gene names

Name:

HBG1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	147 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
Subunit structure	Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F). In the case of deletions affecting one or more of the alpha chains the excess gamma chains form homotetramers that exhibit neither Bohr effect nor heme-heme cooperativity (hemoglobin Bart's).
Tissue specificity	Red blood cells.
Developmental stage	Expressed until four or five weeks after birth.
Post-translational modification	Acetylation of Gly-2 converts Hb F to the minor Hb F1.
Involvement in disease	Some gamma variants can cause severe jaundice and cyanosis in premature and new born babies.
Sequence similarities	Belongs to the globin family.

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Ontologies

Keywords
Biological process	Oxygen transport Transport
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Ligand	Heme Iron Metal-binding
PTM	Acetylation
Technical term	3D-structure Direct protein sequencing
Gene Ontology (GO)
Biological process	oxygen transport Inferred from electronic annotation. Source: InterPro
Cellular component	hemoglobin complex Inferred from electronic annotation. Source: InterPro
Molecular function	heme binding Inferred from electronic annotation. Source: InterPro iron ion binding Inferred from electronic annotation. Source: InterPro oxygen binding Inferred from electronic annotation. Source: InterPro oxygen transporter activity Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct	Notes
GABARAPL2	P60520	1	EBI-1056789,EBI-720116

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

Removed By similarity

Chain

2 – 147

146

Hemoglobin subunit gamma-1

PRO_0000053253

Sites

Metal binding

Iron (heme distal ligand)

Metal binding

Iron (heme proximal ligand)

Site

142

Susceptible to oxidation; in form M Probable

Amino acid modifications

Modified residue

N-acetylglycine; in form Hb F1

Natural variations

Natural variant

H → Q in Macedonia-I.

VAR_003124

Natural variant

E → K in Texas-1.

VAR_003125

Natural variant

E → G in Izumi/Kotobuki.

VAR_003127

Natural variant

E → Q in Pordenone.

VAR_003128

Natural variant

T → R in Calluna.

VAR_003130

Natural variant

D → G in Kuala Lumpur.

VAR_003135

Natural variant

G → R in Xinjiang; unstable.

VAR_003138

Natural variant

P → R in Pendergrass.

VAR_003141

Natural variant

W → G in Cobb.

VAR_003142

Natural variant

Q → R in Bonaire.

VAR_003143

Natural variant

R → K in Woodstock.

VAR_003145

Natural variant

D → N in Fukuyama.

VAR_003147

Natural variant

A → D in Beech island.

VAR_003149

Natural variant

K → E in Jamaica.

VAR_003153

Natural variant

G → R in Iwata.

VAR_003158

Natural variant

D → H in Xin-su.

VAR_003160

Natural variant

D → N in Forest Park; associated with T-76.

VAR_003159

Natural variant

I → T in Sardinia/Forest Park; associated with N-74. dbSNP rs1061234.

VAR_003161

Natural variant

D → N in Dammam.

VAR_003163

Natural variant

D → N in Yamaguchi.

VAR_003165

Natural variant

D → Y in Victoria jubilee.

VAR_003164

Natural variant

H → R in Dickinson.

VAR_003168

Natural variant

122

E → K in Siena/Hull.

VAR_003173

Natural variant

129

A → T in Baskent.

VAR_003175

Natural variant

135

V → M in Jiangsu.

VAR_003177

Secondary structure

147

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

P69891-1 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 8FCDC3DA1B416DDE
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FASTA

147

16,140

        10         20         30         40         50         60 
MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK 

        70         80         90        100        110        120 
VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG 

       130        140 
KEFTPEVQAS WQKMVTAVAS ALSSRYH

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes." Slightom J.L., Blechl A.E., Smithies O. Cell 21:627-638(1980) [PubMed: 7438203] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"A history of the human fetal globin gene duplication." Shen S., Slightom J.L., Smithies O. Cell 26:191-203(1981) [PubMed: 7332928] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-76. Tissue: Lung and Placenta.
[4]	Lubec G., Afjehi-Sadat L. Submitted (MAR-2007) to UniProtKB Cited for: PROTEIN SEQUENCE OF 32-60 AND 106-121, MASS SPECTROMETRY. Tissue: Brain and Cajal-Retzius cell.
[5]	"The M gamma chain of human fetal hemoglobin is an A gamma chain with an in vitro modification of gamma 141 leucine to hydroxyleucine." Wilson J.B., Brennan S.O., Allen J., Shaw J.G., Gu L.H., Huisman T.H. J. Chromatogr. A 617:37-42(1993) [PubMed: 7690768] [Abstract] Cited for: OXIDATION AT LEU-142.
[6]	"Oligomerization and ligand binding in a homotetrameric hemoglobin: two high-resolution crystal structures of hemoglobin Bart's (gamma(4)), a marker for alpha-thalassemia." Kidd R.D., Baker H.M., Mathews A.J., Brittain T., Baker E.N. Protein Sci. 10:1739-1749(2001) [PubMed: 11514664] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF HOMOTETRAMER.
[7]	"Human fetal hemoglobin F 1. Acetylation status." Stegink L.D., Meyer P.D., Brummel M.C. J. Biol. Chem. 246:3001-3007(1971) [PubMed: 5554303] [Abstract] Cited for: ACETYLATION AT GLY-2.
[8]	"Hb F-Baskent or alpha 2A gamma 128(H6)Ala-->Thr." Altay C., Gurgey A., Wilson J.B., Hu H., Webber B.B., Kutlar F., Huisman T.H.J. Hemoglobin 12:87-89(1988) [PubMed: 2454900] [Abstract] Cited for: VARIANT BASKENT THR-129.
[9]	"Hb F-Beech Island or alpha 2A gamma 2(53)(D4)Ala-->Asp." Chen S.S., Wilson J.B., Webber B.B., Huisman T.H.J. Hemoglobin 9:525-529(1985) [PubMed: 2417989] [Abstract] Cited for: VARIANT BEECH ISLAND ASP-54.
[10]	"Hb F-Bonaire-Ga or alpha 2 A gamma 2 39(C5) Gln replaced by Arg, characterized by high pressure liquid chromatographic and microsequencing procedures." Nakatsuji T., Headlee M., Lam H., Wilson J.B., Huisman T.H.J. Hemoglobin 6:599-606(1982) [PubMed: 6186637] [Abstract] Cited for: VARIANT BONAIRE ARG-40.
[11]	"Hb F-Calluna or alpha 2 gamma 2(12 Thr replaced by Arg; 75Ile; 136Ala) in a Caucasian baby." Nakatsuji T., Lam H., Huisman T.H.J. Hemoglobin 7:563-566(1983) [PubMed: 6199326] [Abstract] Cited for: VARIANT CALLUNA ARG-13.
[12]	"Hb F-Cobb or alpha(2)A gamma(2)37(C3)Trp-->Gly." Chen S.S., Webber B.B., Kutlar A., Wilson J.B., Huisman T.H.J. Hemoglobin 9:617-619(1985) [PubMed: 2419280] [Abstract] Cited for: VARIANT COBB GLY-38.
[13]	"Hb F-Dammam or alpha 2A gamma 2(79) (EF3) Asp-->Asn." Al-Awamy B.H., Niazi G.A., Al-Mouzan M.I., Wilson J.B., Chen S.S., Webber B.B., Huisman T.H.J. Hemoglobin 9:171-173(1985) [PubMed: 2411679] [Abstract] Cited for: VARIANT DAMMAM ASN-80.
[14]	"Genetic haemoglobin abnormalities in about 9000 Black and 7000 White newborns; haemoglobin F Dickinson (Agamma97His-Arg), a new variant." Schneider R.G., Haggard M.E., Gustavson L.P., Brimhall B., Jones R.T. Br. J. Haematol. 28:515-524(1974) [PubMed: 4455303] [Abstract] Cited for: VARIANT DICKINSON ARG-98.
[15]	"Hb F-Fukuyama or A gamma T43(CD2)Asp-->Asn." Hidaka K., Iuchi I., Nakahara H., Iwakawa G. Hemoglobin 13:93-96(1989) [PubMed: 2467893] [Abstract] Cited for: VARIANT FUKUYAMA ASN-44.
[16]	"Haemoglobin F Hull (gamma-121 glutamic acid-->lysine), homologous with haemoglobins O Arab and O Indonesia." Sacker L.S., Beale D., Black A.J., Huntsman R.G., Lehmann H., Lorkin P.A. BMJ 3:531-533(1967) [PubMed: 6038320] [Abstract] Cited for: VARIANT HULL LYS-122.
[17]	"Survey of cord blood hemoglobin in Japan and identification of two new gamma chain variants." Fuyuno K., Torigoe T., Ohba Y., Matsuoka M., Miyaji T. Hemoglobin 5:139-151(1981) [PubMed: 6163752] [Abstract] Cited for: VARIANT IWATA ARG-73.
[18]	"Characterization of a new fetal hemoglobin variant, Hb F Izumi A gamma 6Glu replaced by Gly, by molecular secondary ion mass spectrometry." Wada Y., Hayashi A., Masanori F., Katakuse I., Ichihara T., Nakabushi H., Matsuo T., Sakurai T., Matsuda H. Biochim. Biophys. Acta 749:244-248(1983) [PubMed: 6197997] [Abstract] Cited for: VARIANT IZUMI GLY-7.
[19]	"Haemoglobin F Jamaica (alpha-2 gamma-2 61 Lys leads to Glu; 136 Ala)." Ahern E.J., Jones R.T., Brimhall B., Gray R.H. Br. J. Haematol. 18:369-375(1970) [PubMed: 5491586] [Abstract] Cited for: VARIANT JAMAICA GLU-62.
[20]	"Hb F-Jiangsu, the first gamma chain variant with a valine->methionine substitution: alpha 2A gamma 2 134(H12)Val->Met." Plaseska D., Kutlar F., Wilson J.B., Webber B.B., Zeng Y.-T., Huisman T.H.J. Hemoglobin 14:177-183(1990) [PubMed: 1703137] [Abstract] Cited for: VARIANT JIANGSU MET-135.
[21]	"A new gamma chain variant, HB F Kotobuki or AI gamma 6 (A3) Glu leads to Gly." Yoshinaka H., Ohba Y., Hattori Y., Matsuoka M., Miyaji T., Fuyuno K. Hemoglobin 6:37-42(1982) [PubMed: 6175602] [Abstract] Cited for: VARIANT KOTOBUKI GLY-7.
[22]	"Structural identification of haemoglobin F Kuala Lumpur: alpha2 gamma2 22(B4)Asp leads to Gly; 136 Ala." Lie-Injo L.E., Wiltshire B.B., Lehmann H. Biochim. Biophys. Acta 322:224-230(1973) [PubMed: 4765089] [Abstract] Cited for: VARIANT KUALA LUMPUR GLY-23.
[23]	"Hb F-Macedonia-I or alpha 2A gamma (2)2(NA2)His-->Gln." Plaseska D., Cepreganova-Krstik B., Momirovska A., Efremov G.D. Hemoglobin 18:241-245(1994) [PubMed: 7928382] [Abstract] Cited for: VARIANT MACEDONIA-I GLN-3.
[24]	"Hb F-Pendergrass, an A gamma I variant with a Pro-->Arg substitution at position gamma 36(C2)." Chen S.S., Wilson J.B., Huisman T.H.J. Hemoglobin 9:73-77(1985) [PubMed: 2581920] [Abstract] Cited for: VARIANT PENDERGRASS ARG-37.
[25]	"A new gamma chain variant: Hb F-Pordenone [gamma 6(A3) Glu replaced by Gln: 75ILE: 136ALA]." Nakatsuji T., Webber B., Lam H., Wilson J.B., Huisman T.H.J., Sciarratta G.V., Sansone G., Molaro G.L. Hemoglobin 6:397-401(1982) [PubMed: 6183236] [Abstract] Cited for: VARIANT PORDENONE GLN-7.
[26]	"A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2." Grifone V., Kamuzora H., Lehmann H., Charlesworth D. Acta Haematol. 53:347-355(1975) [PubMed: 808940] [Abstract] Cited for: VARIANT SARDINIA THR-76.
[27]	"Hb F-Siena (alpha 2 a gamma t2 121 (GH4) Glu leads to Lys). A new fetal hemoglobin variant." Care A., Marinucci M., Massa A., Maffi D., Sposi N.M., Improta T., Tentori L. Hemoglobin 7:79-83(1983) [PubMed: 6188719] [Abstract] Cited for: VARIANT SIENA LYS-122.
[28]	"Haemoglobin F Texas I(alpha-2,gamma-2-5glu-lys): a variant of haemoglobin F." Jenkins G.C., Beale D., Black A.J., Huntsman R.G., Lehmann H. Br. J. Haematol. 13:252-255(1967) [PubMed: 6019034] [Abstract] Cited for: VARIANT TEXAS-1 LYS-6.
[29]	"Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try)." Ahern E., Holder W., Ahern V., Serjeant G.R., Serjeant B., Forbes M., Brimhall B., Jones R.T. Biochim. Biophys. Acta 393:188-194(1975) [PubMed: 1138921] [Abstract] Cited for: VARIANT VICTORIA JUBILEE TYR-81.
[30]	"Gamma chain abnormalities and gamma-globin gene rearrangements in newborn babies of various populations." Huisman T.H.J., Kutlar F., Gu L.H. Hemoglobin 15:349-379(1991) [PubMed: 1802881] [Abstract] Cited for: VARIANT WOODSTOCK LYS-41.
[31]	"Hb F-Xin-Su or A gamma I73(E17)Asp-->His: a new slow-moving fetal hemoglobin variant." Ma M., Hu H., Kutlar F., Wilson J.B., Huisman T.H.J. Hemoglobin 11:473-479(1987) [PubMed: 2448269] [Abstract] Cited for: VARIANT XIN-SU HIS-74.
[32]	"Hb F-Xinjiang or A gamma T25(B7)Gly-->Arg: a new slow-moving unstable fetal hemoglobin variant." Hu H., Ma M. Hemoglobin 11:465-472(1987) [PubMed: 2448268] [Abstract] Cited for: VARIANT XINJIANG ARG-26.
[33]	"HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated with G gamma-thalassemia." Nakatsuji T., Ohba Y., Huisman T.H.J. Am. J. Hematol. 16:189-192(1984) [PubMed: 6198905] [Abstract] Cited for: VARIANT YAMAGUCHI ASN-81.
+	Additional computationally mapped references.

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Web resources

HbVar

Human hemoglobin variants and thalassemias

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Cross-references

Sequence databases

M91036 Genomic DNA. Translation: AAB59429.1.
M91037 Genomic DNA. Translation: AAA58493.1.
V00513 Genomic DNA. Translation: CAA23771.1.
V00514 Genomic DNA. Translation: CAA23772.1.
J00176 Genomic DNA. Translation: AAA52637.1.
U01317 Genomic DNA. Translation: AAA16332.1.
BC010913 mRNA. Translation: AAH10913.1.
BC020719 mRNA. Translation: AAH20719.1.

PIR

HGHUA. A90803.

UniGene

Hs.705371