Email to GenScript

Human  Mouse  Rat  Other  

Search Help

Human  Mouse  Rat  Other  

  • THAT   AND
  • THAT   AND


PEX12 peroxisomal biogenesis factor 12 [Homo sapiens (human)]

Gene Symbol PEX12
Entrez Gene ID 5193
Full Name peroxisomal biogenesis factor 12
Synonyms PAF-3, PBD3A
General protein information
Preferred Names
peroxisome assembly protein 12
Names
peroxisome assembly protein 12
peroxin 12
peroxin-12
peroxisome assembly factor 3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q12

Summary This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]. lac of sum
Disorder MIM:

601758

Disorder Html: Peroxisome biogenesis factor 12 (3)
CloneID RefSeq Accession Definition **Vector *Turnaround time Price
OHu26313 NM_000286 Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. pcDNA3.1-C-(k)DYK Not in stock 7-9 Starting from $99.00

*Business Day
**You may select a custom vector to replace pcDNA3.1-C-(k)DYK after clone is added to cart.



CloneID OHu26313D
Sequence Information ORF Nucleotide Sequence (Length: 1080bp)
Protein sequence
SNP
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product peroxisome assembly protein 12
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA298874.1, U91521.1, BC031085.1 and AI341587.1. This sequence is a reference standard in the RefSeqGene project. On Aug 14, 2008 this sequence version replaced gi:4505720. Summary: This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U91521.1, BC031085.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA962343 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
ATGGCTGAGC ACGGGGCTCA CTTCACAGCT GCTTCTGTGG CCGATGACCA GCCATCCATC 
TTTGAGGTGG TAGCACAGGA CAGTTTAATG ACAGCAGTGA GACCCGCTCT TCAGCATGTG
GTCAAGGTTC TTGCAGAATC AAATCCCACC CACTATGGCT TCTTGTGGAG GTGGTTTGAT
GAAATCTTTA CTCTGCTAGA TCTTCTGCTC CAGCAACATT ATCTGTCTAG AACCAGTGCC
TCATTTTCTG AAAACTTTTA CGGCTTAAAG AGAATTGTAA TGGGGGACAC TCACAAGTCT
CAGAGATTGG CTAGTGCTGG TCTCCCAAAG CAGCAGCTTT GGAAATCTAT TATGTTCCTG
GTTCTTCTTC CCTATCTGAA AGTGAAGCTG GAGAAGCTGG TTTCTAGCCT GAGAGAAGAG
GATGAATATT CTATTCATCC CCCTTCTTCC CGCTGGAAAC GATTTTACAG AGCTTTCCTG
GCAGCCTACC CATTTGTGAA CATGGCCTGG GAAGGATGGT TTCTTGTACA ACAACTTCGA
TACATCCTAG GAAAAGCTCA GCATCACTCA CCACTGCTGA GGCTGGCTGG AGTTCAGCTA
GGTCGACTGA CAGTTCAGGA TATACAAGCT CTGGAGCACA AACCAGCTAA GGCCAGCATG
ATGCAGCAAC CAGCCAGGAG TGTTAGTGAG AAGATAAACT CAGCTCTGAA GAAAGCTGTT
GGGGGTGTTG CCTTATCCCT GTCTACTGGC CTTTCTGTGG GTGTATTCTT CTTGCAGTTC
CTTGACTGGT GGTACTCATC TGAAAATCAA GAAACCATCA AGTCATTGAC TGCCCTGCCT
ACTCCACCAC CACCTGTACA CCTAGACTAT AACTCTGATT CTCCCCTCTT ACCCAAAATG
AAGACTGTGT GCCCACTGTG TCGTAAAACC CGGGTGAATG ATACTGTTCT TGCCACCTCT
GGCTATGTGT TTTGTTACCG CTGTGTGTTT CATTATGTGA GGAGTCACCA AGCTTGTCCC
ATCACAGGTT ATCCAACAGA AGTACAACAT CTGATTAAAC TCTACTCCCC TGAGAACTGA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_000277.1
CDS617..1696
Misc Feature(1)341..343(+)
Misc Feature(2)692..1414(+)
Misc Feature(3)1091..1153(+)
Misc Feature(4)1334..1396(+)
Misc Feature(5)1526..1639(+)
Exon (1)1..742
Gene:PEX12
Gene Synonym:
Exon (2)743..1296
Gene:PEX12
Gene Synonym:
Exon (3)1297..2683
Gene:PEX12
Gene Synonym:
Translation
Position Chain Variation Link
52 52 a, c dbSNP:185392500
61 61 c, g dbSNP:575336674
67 67 g, t dbSNP:558376015
83 83 c, t dbSNP:2278950
84 84 g, t dbSNP:775094548
104 104 g, t dbSNP:566247046
116 116 g, t dbSNP:546162187
122 122 c, t dbSNP:577172680
143 143 a, c dbSNP:759156320
168 168 c, t dbSNP:774036724
169 169 c, t dbSNP:535850369
174 174 a, g dbSNP:567290870
183 183 a, c dbSNP:771210303
189 189 c, t dbSNP:321600
190 190 a, g dbSNP:531286605
259 259 g, t dbSNP:565433352
273 273 c, t dbSNP:531377639
295 295 c, t dbSNP:552011285
322 322 c, t dbSNP:528558631
328 328 g, t dbSNP:773621254
335 335 c, t dbSNP:770235047
430 430 a, g dbSNP:540759474
433 433 c, t dbSNP:748630502
454 454 g, t dbSNP:753485432
470 470 c, t dbSNP:559905700
473 473 a, g dbSNP:781288549
479 479 c, t dbSNP:543169335
483 483 a, g dbSNP:573936125
515 515 a, g dbSNP:765967100
556 556 a, g dbSNP:757635509
563 563 c, t dbSNP:563742630
569 569 c, g dbSNP:780808354
575 575 -, agag dbSNP:746414260
576 576 g, t dbSNP:368400940
577 577 -, ag dbSNP:772498469
582 582 a, g dbSNP:374220750
591 591 a, c, g dbSNP:727504080
592 592 g, t dbSNP:767329561
593 593 a, g dbSNP:761359334
601 601 c, g dbSNP:773698771
606 606 c, t dbSNP:371137201
612 612 a, g dbSNP:370868594
617 617 a, g dbSNP:575496774
624 624 a, g dbSNP:769571282
626 626 c, t dbSNP:555313611
631 631 c, g dbSNP:773401418
636 636 a, g dbSNP:143621995
639 639 c, t dbSNP:748429704
641 641 a, g dbSNP:376640934
642 642 -, ca dbSNP:61752097
642 642 c, t dbSNP:367944383
645 645 c, t dbSNP:768791993
657 657 a, c dbSNP:193253559
659 659 a, g dbSNP:200048804
666 666 a, g dbSNP:756528221
667 667 c, g dbSNP:561976188
669 669 c, t dbSNP:750863211
670 670 a, g dbSNP:781646242
671 671 c, t dbSNP:756812775
675 675 c, t dbSNP:727504079
682 682 a, g dbSNP:552634733
688 688 a, g dbSNP:763447820
689 689 c, g dbSNP:762591605
690 690 a, c dbSNP:752615361
691 691 a, g dbSNP:765205355
700 700 c, t dbSNP:200641558
709 709 a, c dbSNP:141198490
717 717 a, g dbSNP:770777877
718 718 a, t dbSNP:147530802
719 719 a, c, g dbSNP:373559171
720 720 c, g dbSNP:749431588
732 732 a, t dbSNP:780677964
733 733 g, t dbSNP:727504078
743 743 a, g dbSNP:746311261
751 751 a, t dbSNP:777263696
765 765 c, t dbSNP:771188005
770 770 -, ct dbSNP:771304850
771 771 a, g dbSNP:756156620
772 772 c, t dbSNP:373145272
781 781 g, t dbSNP:777258588
782 782 c, t dbSNP:758005394
792 792 c, t dbSNP:747820399
794 794 g, t dbSNP:778333662
798 798 a, c dbSNP:754484547
805 805 c, t dbSNP:369640430
807 807 c, t dbSNP:766393993
817 817 c, t dbSNP:200758754
818 818 -, ctt dbSNP:61752098
818 818 a, c dbSNP:750195604
827 827 c, t dbSNP:767447750
832 832 a, g dbSNP:763213930
836 836 -, t dbSNP:749653922
837 837 a, g dbSNP:775861350
838 838 a, t dbSNP:765404768
849 849 c, t dbSNP:759749799
851 851 a, g dbSNP:776980491
852 852 c, g dbSNP:771507228
853 853 a, c, t dbSNP:773576922
861 861 g, t dbSNP:140611267
874 874 -, tt dbSNP:780891416
874 874 c, t dbSNP:529434949
876 876 -, aa dbSNP:61752099
877 877 c, g, t dbSNP:145784404
884 884 -, aaga dbSNP:61752100
889 889 a, t dbSNP:28936698
894 894 g, t dbSNP:754468289
898 898 a, g dbSNP:748872929
906 906 c, g dbSNP:779465431
907 907 c, t dbSNP:756033737
908 908 c, t dbSNP:750345340
910 910 a, c dbSNP:767354075
919 919 a, g dbSNP:757186084
922 922 a, t dbSNP:563487343
923 923 c, t dbSNP:765607255
924 924 -, t dbSNP:61752101
935 935 c, g dbSNP:371014792
950 950 c, t dbSNP:776731688
951 951 a, g dbSNP:376279395
962 962 c, t dbSNP:766390758
965 965 a, g dbSNP:767207001
968 968 a, g dbSNP:773708442
974 974 c, t dbSNP:748397220
976 976 c, g dbSNP:772417571
984 984 -, ttc dbSNP:751058068
988 988 a, c dbSNP:762220033
1004 1004 c, t dbSNP:773967871
1007 1007 g, t dbSNP:768259519
1022 1022 a, g dbSNP:748918869
1025 1025 a, c, t dbSNP:17852912
1031 1031 a, g dbSNP:769196917
1036 1036 a, g dbSNP:745813377
1038 1038 a, c dbSNP:781337837
1044 1044 a, g dbSNP:369522860
1049 1049 a, g dbSNP:757097977
1054 1054 g, t dbSNP:751442386
1063 1063 c, t dbSNP:375119247
1067 1067 c, t dbSNP:138731505
1068 1068 a, g dbSNP:150186509
1073 1073 a, g dbSNP:766411953
1077 1077 a, c, g dbSNP:564816937
1087 1087 -, ag dbSNP:779716641
1102 1102 c, t dbSNP:768059114
1130 1130 g, t dbSNP:202025715
1139 1139 c, t dbSNP:762340754
1146 1146 a, c dbSNP:774653352
1147 1147 a, g dbSNP:768919252
1149 1149 -, aac dbSNP:61752102
1151 1151 c, t dbSNP:762603832
1154 1154 c, g, t dbSNP:61752103
1155 1155 a, g dbSNP:745420734
1157 1157 -, t dbSNP:61752104
1159 1159 a, c, t dbSNP:192653658
1171 1171 a, g dbSNP:199618544
1179 1179 a, c dbSNP:373097667
1183 1183 c, t dbSNP:777653456
1186 1186 a, g dbSNP:758132842
1203 1203 a, c dbSNP:754082338
1208 1208 a, g dbSNP:368983576
1213 1213 a, g dbSNP:756193716
1214 1214 c, g dbSNP:750539552
1217 1217 g, t dbSNP:767608984
1220 1220 c, t dbSNP:61752105
1221 1221 a, g dbSNP:758225297
1227 1227 -, ca dbSNP:773837266
1232 1232 c, t dbSNP:786205502
1240 1240 a, t dbSNP:540401635
1241 1241 a, c, t dbSNP:61752106
1244 1244 g, t dbSNP:763285439
1251 1251 a, g dbSNP:187265849
1268 1268 a, g dbSNP:376571044
1271 1271 a, g dbSNP:773891359
1277 1277 a, g dbSNP:764839291
1282 1282 a, g dbSNP:759295117
1285 1285 a, t dbSNP:776230088
1300 1300 -, tagt dbSNP:62642859
1307 1307 a, t dbSNP:104894616
1320 1320 c, t dbSNP:765654384
1338 1338 g, t dbSNP:139417458
1339 1339 a, g dbSNP:776427149
1340 1340 a, g dbSNP:765982515
1349 1349 -, gcct dbSNP:61752107
1349 1349 a, t dbSNP:12941376
1352 1352 c, t dbSNP:773175740
1353 1353 a, c dbSNP:200413804
1360 1360 -, t dbSNP:61752108
1361 1361 a, g dbSNP:371597789
1372 1372 c, t dbSNP:573624630
1374 1374 c, t dbSNP:773962549
1376 1376 c, g dbSNP:768447498
1379 1379 a, g dbSNP:746089337
1388 1388 c, t dbSNP:781455518
1397 1397 -, c dbSNP:754193088
1397 1397 c, t dbSNP:757306012
1401 1401 -, act dbSNP:759584047
1405 1405 a, g dbSNP:747099919
1409 1409 c, t dbSNP:142726996
1412 1412 g, t dbSNP:758784930
1426 1426 a, g dbSNP:201442874
1427 1427 c, g dbSNP:569741823
1432 1432 c, g dbSNP:765449979
1445 1445 a, g dbSNP:202159096
1450 1450 c, t dbSNP:755457602
1463 1463 c, t dbSNP:753527027
1472 1472 a, g dbSNP:766182813
1483 1483 c, t dbSNP:138720627
1488 1488 a, c dbSNP:749859287
1491 1491 -, ct dbSNP:61752109
1500 1500 c, t dbSNP:767070181
1502 1502 c, g dbSNP:761590834
1503 1503 -, tc dbSNP:61752110
1503 1503 -, t dbSNP:61752111
1504 1504 -, ct dbSNP:398123301
1505 1505 g, t dbSNP:774415243
1506 1506 a, t dbSNP:768427035
1509 1509 c, t dbSNP:762789314
1510 1510 -, c dbSNP:398123302
1515 1515 c, t dbSNP:776806092
1519 1519 c, g dbSNP:145574816
1521 1521 c, t dbSNP:373860467
1522 1522 c, t dbSNP:371277434
1523 1523 a, g dbSNP:777654572
1528 1528 c, t dbSNP:772194164
1531 1531 a, t dbSNP:748595918
1532 1532 -, ct dbSNP:771406750
1538 1538 c, t dbSNP:779617735
1539 1539 a, g dbSNP:755371958
1547 1547 c, t dbSNP:373666248
1548 1548 a, g dbSNP:780595864
1549 1549 a, g dbSNP:755776824
1550 1550 c, g dbSNP:76127905
1562 1562 c, g dbSNP:750097322
1565 1565 c, t dbSNP:61752112
1569 1569 c, t dbSNP:766933745
1575 1575 c, t dbSNP:28936697
1577 1577 -, ggct dbSNP:749650201
1588 1588 c, t dbSNP:761445143
1595 1595 c, t dbSNP:751429784
1596 1596 a, g dbSNP:557834416
1603 1603 -, gt dbSNP:764657253
1613 1613 g, t dbSNP:762912502
1618 1618 a, g dbSNP:200283718
1625 1625 a, c, t dbSNP:760739894
1637 1637 a, g, t dbSNP:772028045
1663 1663 -, aca dbSNP:267608184
1663 1663 a, g dbSNP:200789791
1667 1667 c, t dbSNP:748308886
1684 1684 c, t dbSNP:779530147
1692 1692 a, c dbSNP:769244620
1694 1694 c, t dbSNP:749833303
1696 1696 a, g dbSNP:780501878
1713 1713 a, g dbSNP:756569847
1731 1731 a, c, t dbSNP:780946763
1732 1732 c, t dbSNP:752689493
1734 1734 c, t dbSNP:756694664
1735 1735 a, g dbSNP:751033919
1740 1740 a, c dbSNP:763619631
1745 1745 c, g dbSNP:758276967
1751 1751 c, g dbSNP:572785120
1794 1794 c, t dbSNP:555645908
1797 1797 a, g dbSNP:532390390
1813 1813 -, t dbSNP:752715446
1862 1862 a, c dbSNP:1037590
1893 1893 c, g dbSNP:754471266
1924 1924 c, g dbSNP:570189667
1984 1984 a, g dbSNP:555997949
1993 1993 c, t dbSNP:113891712
2033 2033 c, t dbSNP:539591621
2051 2051 c, t dbSNP:573245836
2053 2053 a, g dbSNP:570468178
2076 2076 c, g dbSNP:762716335
2125 2125 c, t dbSNP:547399279
2142 2142 g, t dbSNP:540347013
2205 2205 g, t dbSNP:192370696
2212 2212 -, g dbSNP:200648389
2212 2212 c, g dbSNP:750063724
2213 2213 a, g dbSNP:1046321
2218 2218 a, t dbSNP:549033406
2234 2234 c, t dbSNP:529066074
2246 2246 -, gtt dbSNP:147182821
2264 2264 -, tt dbSNP:397835529
2265 2265 -, tt dbSNP:3031851
2265 2265 a, t dbSNP:541598688
2332 2332 c, t dbSNP:111424374
2349 2349 a, t dbSNP:543539786
2366 2366 a, g dbSNP:577816577
2367 2367 c, t dbSNP:539431314
2386 2386 a, t dbSNP:1046326
2391 2391 g, t dbSNP:781479452
2404 2404 a, g dbSNP:762099095
2446 2446 a, g dbSNP:148895599
2477 2477 a, t dbSNP:185900922
2479 2479 a, c dbSNP:571975070
2532 2532 c, g dbSNP:10068
2575 2575 -, actt dbSNP:3833130
2576 2576 -, ctta dbSNP:35050283
2576 2576 a, c dbSNP:200106618
2577 2577 -, tt dbSNP:778971172
2577 2577 c, t dbSNP:201783255
2578 2578 -, ta dbSNP:753849416
2578 2578 c, t dbSNP:200996102
2579 2579 -, ctta dbSNP:780406303
2612 2612 -, ga dbSNP:776351104
2613 2613 a, g dbSNP:1046335
2619 2619 a, g dbSNP:576761038
2663 2663 -, ataaa dbSNP:755847405

Target ORF information:

RefSeq Version NM_000286
Organism Homo sapiens (human)
Definition Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_000286

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
ATGGCTGAGC ACGGGGCTCA CTTCACAGCT GCTTCTGTGG CCGATGACCA GCCATCCATC 
TTTGAGGTGG TAGCACAGGA CAGTTTAATG ACAGCAGTGA GACCCGCTCT TCAGCATGTG
GTCAAGGTTC TTGCAGAATC AAATCCCACC CACTATGGCT TCTTGTGGAG GTGGTTTGAT
GAAATCTTTA CTCTGCTAGA TCTTCTGCTC CAGCAACATT ATCTGTCTAG AACCAGTGCC
TCATTTTCTG AAAACTTTTA CGGCTTAAAG AGAATTGTAA TGGGGGACAC TCACAAGTCT
CAGAGATTGG CTAGTGCTGG TCTCCCAAAG CAGCAGCTTT GGAAATCTAT TATGTTCCTG
GTTCTTCTTC CCTATCTGAA AGTGAAGCTG GAGAAGCTGG TTTCTAGCCT GAGAGAAGAG
GATGAATATT CTATTCATCC CCCTTCTTCC CGCTGGAAAC GATTTTACAG AGCTTTCCTG
GCAGCCTACC CATTTGTGAA CATGGCCTGG GAAGGATGGT TTCTTGTACA ACAACTTCGA
TACATCCTAG GAAAAGCTCA GCATCACTCA CCACTGCTGA GGCTGGCTGG AGTTCAGCTA
GGTCGACTGA CAGTTCAGGA TATACAAGCT CTGGAGCACA AACCAGCTAA GGCCAGCATG
ATGCAGCAAC CAGCCAGGAG TGTTAGTGAG AAGATAAACT CAGCTCTGAA GAAAGCTGTT
GGGGGTGTTG CCTTATCCCT GTCTACTGGC CTTTCTGTGG GTGTATTCTT CTTGCAGTTC
CTTGACTGGT GGTACTCATC TGAAAATCAA GAAACCATCA AGTCATTGAC TGCCCTGCCT
ACTCCACCAC CACCTGTACA CCTAGACTAT AACTCTGATT CTCCCCTCTT ACCCAAAATG
AAGACTGTGT GCCCACTGTG TCGTAAAACC CGGGTGAATG ATACTGTTCT TGCCACCTCT
GGCTATGTGT TTTGTTACCG CTGTGTGTTT CATTATGTGA GGAGTCACCA AGCTTGTCCC
ATCACAGGTT ATCCAACAGA AGTACAACAT CTGATTAAAC TCTACTCCCC TGAGAACTGA

The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.