Gene summary for NP_000085.1

Gene name
collagen, type VII, alpha 1
Symbol
COL7A1 (Alias: COL7A1; EBD1; EBDCT; EBR1)
NCBI GeneID
1294
Organism
Homo sapiens

Protein sequences and regions

Representative sequence

RefSeq ID Region Map help_icon
NP_000085.1 1..2944
1
1..2944
2944

Structured regions (0)

Structure mapping

Domain / Motif regions (13)

Interpro ID Name Regions Map help_icon
IPR002035 (PF00092) von Willebrand factor, type A 38..203, 1068..1223
1
38..203 1068..1223
2944
IPR002035 (PS50234) von Willebrand factor, type A 38..211, 1054..1229
1
38..211 1054..1229
2944
IPR002035 (SM00327) von Willebrand factor, type A 36..216
1
36..216
2944
IPR002223 (G3DSA:4.10.410.10) Proteinase inhibitor I2, Kunitz metazoa 2872..2932
1
2872..2932
2944
IPR002223 (PF00014) Proteinase inhibitor I2, Kunitz metazoa 2875..2929
1
2875..2929
2944
IPR002223 (PR00759) Proteinase inhibitor I2, Kunitz metazoa 2873..2887, 2904..2914, 2914..2929
1
2873..2887 2904..2914 2914..2929
2944
IPR002223 (PS50279) Proteinase inhibitor I2, Kunitz metazoa 2876..2929
1
2876..2929
2944
IPR002223 (SSF57362) Proteinase inhibitor I2, Kunitz metazoa 2872..2929
1
2872..2929
2944
IPR003961 (PF00041) Fibronectin, type III 233..316, 332..405, 427..487, 509..585, 600..675, 688..763, 779..853, 869..944, 962..1030
1
233..316 332..405 427..487 509..585 600..675 688..763 779..853 869..944 962..1030
2944
IPR003961 (PS50853) Fibronectin, type III 231..325, 331..413, 414..503, 507..593, 598..683, 685..771, 775..862, 867..952, 955..1046
1
231..325 331..413 414..503 507..593 598..683 685..771 775..862 867..952 955..1046
2944
IPR003961 (SM00060) Fibronectin, type III 232..318, 327..402, 415..493, 508..584, 598..674, 686..764, 776..853, 867..943, 955..1039
1
232..318 327..402 415..493 508..584 598..674 686..764 776..853 867..943 955..1039
2944
IPR008957 (G3DSA:2.60.40.30) Fibronectin, type III-like fold 231..325, 330..413, 418..502, 512..599, 603..683, 684..772, 775..862, 865..952, 961..1037
1
231..325 330..413 418..502 512..599 603..683 684..772 775..862 865..952 961..1037
2944
IPR020901 (PS00280) Proteinase inhibitor I2, Kunitz, conserved site 2907..2925
1
2907..2925
2944

Variant regions (0)

Non-synonymous SNPs (16)

dbSNP ID Residue change Regions Map help_icon
rs17080261 A → T 1865..1865
1
1865..1865
2944
rs1800013 G → R 2352..2352
1
2352..2352
2944
rs2228561 P → Q 596..596
1
596..596
2944
rs2228563 R → K 1121..1121
1
1121..1121
2944
rs2229818 R → C 1051..1051
1
1051..1051
2944
rs2229819 P → L 1278..1278
1
1278..1278
2944
rs2229820 R → C 1697..1697
1
1697..1697
2944
rs2229821 E → K 1976..1976
1
1976..1976
2944
rs2229822 P → L 2430..2430
1
2430..2430
2944
rs2229824 R → H 1539..1539
1
1539..1539
2944
rs2854389 A → E 894..894
1
894..894
2944
rs35623035 P → S 269..269
1
269..269
2944
rs35761247 P → L 1278..1278
1
1278..1278
2944
rs36087234 G → R 939..939
1
939..939
2944
rs41290692 R → L 579..579
1
579..579
2944
rs62261469 R → Q 214..214
1
214..214
2944

Interacting regions (1)

Interactants Ref. Relation # of rec. Region Map help_icon
CBFB Reference Domain/Motifs SNPs Structured region Variant regions Interacting regions 1 1843..1859
1
1843..1859
2944

Contacting amino acids (calculated from 3D structures) (0)

Custom regions (0)

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