Gene: [13q34/COL4A1] collagen, type IV, alpha 1;
MOP | Type IV collagen is assigned to the group of non-fibrillary collagens attached to the basal membrane. It is a heterotrimer consisting of two alpha 1 and one alpha 2 peptides." |
LIN | COL4A1 and COL4A2 genes are physically linked, being located 400 kb apart, although the estimation of genetic distance by the recombination rate (Bowcock-1988) yielded relatively high values: 2.8% on the average, with confidence limits 0.6-7.8%." |
EAG | Both murine Col4 genes were shown (Burbelo-1988) to be located 130 kb apart by the head-to-head pattern. They are transcribed from different strands, under the control of a common promoter, which intervenes them and is modulated by the enhancer located in the first A1 intron." |
FAG | See FAM:COL4/00.0. |
PRO | Gene-specific DNA probe HT21 is a 2.7 kb fragment cloned at PstI site in the plasmid pBR322." |
POL | Enzyme Alleles in
kb/(Popul Freq) Reference; Probe number [1] HaeIII A1= 1.65/(0.39); A2= 1.2/(0.05); Bowcock-1987b; Probe 1 A3= 0.95/(0.56) [2] HindIII B1= 3.2/(0.45); B2= 2.1/(0.55) Bowcock-1987a,b; Tikka-1987; Probe 1 [3] HinfI C1= 1.95/(0.81); C2= 1.1/(0.19) Bowcock-1987a,b; Probe 1 [4] XmnI D1= 5.0/(0.93); D2= 4.7/(0.07) Bowcock-1987a,b; Probe 1 [5] 10 haplotypes with frequencies 0.006-0.297 Bowcock-1987b; Bowcock-1988; Probe 1" |
REF | PEP,SEQ "Babel w, Glanville: Eur J Biochem, 143, 545-556,
1984 MAP,MAF,POL "Bowcock AM &: PNAS, 85, N8, 2701-2705, 1988 PRO,POL "Bowcock AM &: Gene Geography, 1, 47-64, 1987a MAP,MAF,POL "Bowcock AM &: CCG, 45, 234-236, 1987b LOC,FAG "Boyd CD &: AJHG, 42, 309-314, 1988 LOC,FAG "Boyd CD &: Hum Genet, 74, 121-125, 1986 FUN,PEP,MOP "Brazel D &: Eur J Biochem, 172, 35-42, 1988 PRO,SEQ,FAG "Brinker JM &: PNAS, 82, (Jun), 3649-3653, 1985 EAG,MAF,EXP,MOU "Burbelo &: PNAS, 85, N24, 9679-9682, 1988 FUN,PEP,MOP "Butkowski &: JBC, 262, 7874-7877, 1987 FUN,PEP,MOP "Crouch &: PNAS, 77, 745-749, 1980 GEN,SEQ,MAF "Cutting &: AJHG, 41, A163, 1987 LOC,FAG "Emanuel BS &: AJHG, 38, 38-44, 1986 LOC,FAG "Gadi &: CCG, 46, (HGM9), 617, 1987 PRO,SEQ,FAG "Griffin CA &: PNAS, 84, N2, 512-516, 1987 LOC,FAG "Hebert &: AJHG, 41, A169, 1987 GEN,SEQ,MAF "Killen PD &: Hum Genet, 77, 318-324, 1987 PRO,SEQ,FAG "Pihlayaniemi &: JBC, 260, N12, 7681-7687, 1985 FUN,PEP,MOP "Pihlayaniemi &: Biochemistry, 20, 7409-7415, 1981 GEN,SEQ,MAF "Poeschl E &: EMBO J, 7, 2687-2696, 1988 FUN,PEP,MOP "Soininen R &: FEBS Lett, 225, 188-194, 1987 GEN,SEQ,MAF "Soininen R &: EMBO J, 5, 2821-2823, 1986a GEN,SEQ,MAF "Soininen R &: PNAS, 83, N6, 1568-1572, 1986b LOC,FAG "Solomon E &: Ann Hum Genet, 51, 125-127, 1987 LOC,FAG "Solomon E &: PNAS, 82, 3330-3334, 1985 MAP,MAF,POL "Tikka L &: NAR, 15, N13, 5497, 1987 FUN,PEP,MOP "Timpl &: Eur J Biochem, 120, 203-211, 1981 FUN,PEP,MOP "Wieslander &: JBC, 260, 8564-8570, 1985 FUN,PEP,MOP "Wieslander &: PNAS, 81, 3838-3842, 1984 |
SWI | SWISSPROT: P02462 |
KEY | exce |
CLA | coding, basic |
LOC | 13 q34 |
MIM | MIM: 120130 |
