Gene: [04q1/AFP] alpha-fetoprotein; hereditary persistence of alpha-fetoprotein (HPAFP); [HPAFP ]
COM | AFP and ALB (GEM:04q1/AFP) genes form a tandem and are located 14.5 kb apart, in the same transcriptional orientation: 5'-ALB-3'....14.5 kb....5'-AFP-3' (Urano-1984)." |
GEN | The gene length is 20 kb. Exons: 15; introns: 14; |
MUT | McVey-1993 showed that a G-to-A substitution at position -119 in a potential HNF1 (hepatocyte nuclear factor) binding site in the alpha-fetoprotein gene is associated with hereditary persistence of alpha-fetoprotein (HPAFP)." |
REF | CLO,SEQ,EXP,EVO "Beattie WG, Dugaiczyk: Gene, 20, 415-422,
1982 LOC,LIN,MOL "Ferguson-Smith MA &: CCG, 40, (HGM8), 628, 1985 LOC,LIN,MOL "Ferguson-Smith MA &: CCG, 37, (HGM7), 469, 1984 GEN,POL,SEQ "Gibbs PE &: Biochemistry, 26, 1332-1343, 1987 LOC,LIN,MAF "Harper ME, Dugaiczyk: AJHG, 35, 565-572, 1983 MUT "McVey JH &: Hum Mol Genet, 2, 379-384, 1993 CLO,SEQ,EXP,EVO "Morinaga T &: PNAS, 80, (Aug), 4604-4608, 1983 LOC,LIN,MAF "Murray JC &: AJHG, 42, 490-497, 1988 LOC,LIN,MAF "Orita M &: Genomics, 8, 271-278, 1990 LOC,LIN,MAF "Rose E &: AJHG, 45, A61, 1989 GEN,POL,SEQ "Sakai M &: JBC, 260, N8, 5055-5060, 1985 LOC,LIN,MAF "Sakai M &: AJHG, 35, A151, 1983 SEQ,FAG,EAG "Schoentgen &: FEBS Lett, 185, N1, 47-50, 1985 LOC,LIN,MAF "Theune S &: Genomics, 9, 511-516, 1991 LOC,LIN,MAF "Urano Y &: Gene, 32, N3, 255-261, 1984 IDN,FOG,MOL,EVO "Vogt &: Science, 236, N4799, 301-303, 1987 SEQ,FAG,EAG "Yang F &: NAR, 13, 8007-8017, 1985a SEQ,FAG,EAG "Yang F &: PNAS, 82, N23, 7994-7998, 1985b |
SWI | SWISSPROT: P02771 |
KEY | hem, serp, ont, onc |
CLA | coding, basic |
LOC | 04 q1 |
MIM | MIM: 104150 |
SYN | HPAFP |
