• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu21896 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu21896C Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000444.5, 544346320
Length 2250 bp
Structure linear
Update Date 05-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 1, mRNA.
Product phosphate-regulating neutral endopeptidase isoform 1
Comment

Summary: The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

RefSeq NP_000435.3
CDS 563..2812
Misc Feature(1)527..529
Misc Feature(2)623..685
Misc Feature(3)623..685
Misc Feature(4)761..2785
Misc Feature(5)782..2803
Misc Feature(6)order(2174..2179,2291..2293,2300..2305,2312..2314,
Misc Feature(7)order(2300..2302,2312..2314,2486..2488)
Exon (1)1..680
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (2)681..749
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (3)750..911
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (4)912..998
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (5)999..1225
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (6)1226..1294
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (7)1295..1411
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (8)1412..1495
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (9)1496..1641
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (10)1642..1735
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (11)1736..1864
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (12)1865..1966
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (13)1967..2044
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (14)2045..2148
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (15)2149..2207
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (16)2208..2262
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (17)2263..2330
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (18)2331..2461
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (19)2462..2527
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (20)2528..2632
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (21)2633..2709
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Exon (22)2710..6169
Gene:PHEX
Gene Synonym:HPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
Translation MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECI EAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLE KSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHILRHSPFRWPVLESNIGPEGVW SERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNST EAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKM NISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKK TIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGK MFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPE FIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAF YSASTNQIRFPAGELQKPFFWGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLD PWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKW INDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGA ISNFEEFQKAFNCPPNSTMNRGMDSCRLW
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
20+dbSNP:
20+a, gdbSNP:190284199
72+g, tdbSNP:182865352
169+a, cdbSNP:187601331
185+a, cdbSNP:178709
246+a, gdbSNP:371226416
417+a, gdbSNP:192414303
437+c, gdbSNP:185830047
442..443+, gdbSNP:35301418
455+a, gdbSNP:149541983
473+a, gdbSNP:178710
526+g, tdbSNP:201391816
530+c, tdbSNP:5951494
545+c, tdbSNP:201251651
572+c, gdbSNP:147859619
621..622+, adbSNP:34610947
643+c, tdbSNP:139862893
704+dbSNP:
704+c, gdbSNP:202074612
747+c, tdbSNP:145393882
788+dbSNP:
788+c, gdbSNP:201394441
811+c, tdbSNP:145224279
816+a, gdbSNP:137853269
833+a, cdbSNP:375707069
848+a, gdbSNP:149168023
850+a, gdbSNP:112836831
880+a, gdbSNP:193922458
941+dbSNP:
941+c, tdbSNP:375376231
942+a, gdbSNP:370698419
959+c, gdbSNP:151306376
981+c, tdbSNP:140678356
1006+dbSNP:
1006+c, tdbSNP:145881500
1044+a, gdbSNP:138497409
1051+a, gdbSNP:140231382
1059+a, gdbSNP:150297950
1067+a, gdbSNP:187824835
1099+a, tdbSNP:137961493
1187..1188+, cdbSNP:36117823
1193+a, gdbSNP:370610267
1195+c, tdbSNP:372618065
1252+dbSNP:
1252+c, tdbSNP:149487757
1253+a, gdbSNP:376291775
1287+c, gdbSNP:144007621
1317+dbSNP:
1317+c, tdbSNP:267606945
1321+a, gdbSNP:267606946
1333+c, tdbSNP:142833404
1344+a, gdbSNP:113219043
1392+a, tdbSNP:137853268
1402+a, gdbSNP:147430384
1429+dbSNP:
1429+a, gdbSNP:139771307
1447..1448+, ccdbSNP:193922460
1463+a, cdbSNP:199893153
1465+c, tdbSNP:142755818
1480+c, tdbSNP:150619847
1484+a, gdbSNP:372663150
1519+dbSNP:
1519+g, tdbSNP:373261521
1533+c, tdbSNP:199965602
1544+c, gdbSNP:201383931
1558+c, tdbSNP:139749399
1576+c, tdbSNP:149793221
1587+a, gdbSNP:376461141
1641+a, gdbSNP:185862803
1716+dbSNP:
1716+a, gdbSNP:373233283
1747+dbSNP:
1747+c, gdbSNP:371115510
1764+c, tdbSNP:145778165
1768+a, gdbSNP:151234075
1840+c, tdbSNP:375729152
1906+dbSNP:
1906+c, tdbSNP:144911719
1921+a, cdbSNP:202164519
1936+c, tdbSNP:370746437
1944+c, tdbSNP:374873766
1945+a, gdbSNP:77710864
1968+dbSNP:
1968+c, tdbSNP:375593493
1999+a, gdbSNP:141436752
2025+a, tdbSNP:369896990
2032+a, tdbSNP:371934258
2063+dbSNP:
2063+a, gdbSNP:373235530
2107+c, gdbSNP:201266084
2151+dbSNP:
2151+a, gdbSNP:193922455
2178+c, tdbSNP:199935279
2218+dbSNP:
2218+a, gdbSNP:143427381
2226+c, tdbSNP:137853270
2261+c, tdbSNP:137853271
2266+dbSNP:
2266+c, tdbSNP:112728394
2380+dbSNP:
2380+a, gdbSNP:146055519
2428+c, tdbSNP:375441152
2478+dbSNP:
2478+a, cdbSNP:111636676
2479+a, cdbSNP:201343697
2511+c, tdbSNP:193922456
2561+dbSNP:
2561+g, tdbSNP:193922457
2583+a, cdbSNP:199517401
2591+a, c, gdbSNP:112577880
2614+c, gdbSNP:373674171
2630+a, cdbSNP:200733697
2715+dbSNP:
2715+a, gdbSNP:191028600
2725+c, tdbSNP:372307955
2758+a, cdbSNP:376952568
2769+a, gdbSNP:367955819
2775+c, tdbSNP:371825581
2776+a, gdbSNP:140742016
2797+c, gdbSNP:150112217
2802+a, gdbSNP:138773278
2831+a, gdbSNP:374774539
2859+c, tdbSNP:370155243
2870+c, tdbSNP:183223600
2883+a, gdbSNP:186466573
complement(3030)-c, adbSNP:141594056
3094+g, tdbSNP:373526963
3117+a, gdbSNP:189715720
3173+c, tdbSNP:182654518
3268+a, gdbSNP:147507544
3340+a, gdbSNP:113813269
3403+a, gdbSNP:369147272
3511+c, gdbSNP:145080586
3589+a, cdbSNP:188175876
3632+a, gdbSNP:5951739
3635+a, gdbSNP:41309575
3684+c, gdbSNP:376254574
3685+a, gdbSNP:149673099
3710+c, tdbSNP:145476860
3732+a, cdbSNP:192770679
3744+a, gdbSNP:183619109
3760+c, tdbSNP:187522891
3790+, tdbSNP:200473244
3792..3801+a, tagtgcaaagdbSNP:386824235
3792..3800+, tagtgcaaadbSNP:200544019
3792..3799+, tagtgcaadbSNP:79379908
3794..3801+, gtgcaaagdbSNP:199638664
3801+a, gdbSNP:200248764
3927+a, gdbSNP:192098973
3959+a, gdbSNP:148478140
4036+c, tdbSNP:369535826
4068..4069+, gtdbSNP:72268436
4099..4100+, gtgtgtgtgtdbSNP:59496974
4142+c, tdbSNP:16981889
4220+c, tdbSNP:184539861
4301+a, tdbSNP:377467619
4314..4316+, aatdbSNP:372754543
4315..4316+, adbSNP:71879575
4316+a, tdbSNP:59285690
4316+, tdbSNP:372076236
4318+a, tdbSNP:59180400
4318+, tdbSNP:370627436
4356+c, tdbSNP:5951740
4473+c, tdbSNP:5951741
4494+a, tdbSNP:5951742
4560+c, gdbSNP:191203770
4597+a, gdbSNP:145670027
4691+c, gdbSNP:184499919
4803+a, gdbSNP:373843573
4809+a, gdbSNP:4333745
4962+a, cdbSNP:1894417
5001+c, tdbSNP:189815560
5082+a, gdbSNP:141005414
5114+a, cdbSNP:1894418
5125+a, gdbSNP:138745617
5286+g, tdbSNP:149429660
complement(5330)-t, cdbSNP:718302
5339+a, cdbSNP:377429675
5391+c, tdbSNP:147114489
5419+a, tdbSNP:138443284
5497+a, gdbSNP:144006455
5548..5549+, cctcdbSNP:376551430
5579+c, tdbSNP:186570524
5790+a, gdbSNP:147159870
5829+a, gdbSNP:148632928
5839+g, tdbSNP:141223944
5899+a, cdbSNP:150716965
5952+c, tdbSNP:139065358
5962+a, gdbSNP:144125698
6099+c, tdbSNP:146520078
6124+g, tdbSNP:57128317
Gene SymbolPHEX
Gene SynonymHPDR; HPDR1; HYP; HYP1; LXHR; PEX; XLH
ChromosomeX
Locus MapXp22.2-p22.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000444 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_000444 Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 1, mRNA. In-stock $99.00 5-7
Title [Analysis of PHEX gene mutation in a hypophosphatasia pedigree] .
Author Ma MY, Li H and Cai YS.
Journal Zhonghua Yi Xue Yi Chuan Xue Za Zhi 30 (5), 582-584 (2013)
Title Genome-wide association study of Tourette's syndrome .
Author Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrio GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ and Pauls DL.
Journal Mol. Psychiatry 18 (6), 721-728 (2013)
Title Novel and de novo PHEX mutations in patients with hypophosphatemic rickets .
Author Durmaz E, Zou M, Al-Rijjal RA, Baitei EY, Hammami S, Bircan I, Akcurin S, Meyer B and Shi Y.
Journal Bone 52 (1), 286-291 (2013)
Title Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets .
Author Kang QL, Xu J, Zhang Z, He JW, Lu LS, Fu WZ and Zhang ZL.
Journal Biochem. Biophys. Res. Commun. 423 (4), 793-798 (2012)
Title Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity .
Author Lipman ML, Panda D, Bennett HP, Henderson JE, Shane E, Shen Y, Goltzman D and Karaplis AC.
Journal J. Biol. Chem. 273 (22), 13729-13737 (1998)
Title Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice .
Author Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Goodyer
Journal J. Clin. Invest. 99 (6), 1200-1209 (1997)
Title Expression and cloning of the human X-linked hypophosphatemia gene cDNA .
Author Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV and Schlessinger D.
Journal Biochem. Biophys. Res. Commun. 231 (3), 635-639 (1997)
Title A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium .
Author .
Journal Nat. Genet. 11 (2), 130-136 (1995)
Title X-Linked Hypophosphatemia .
Author Ruppe,M.D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene .
Author Econs MJ, Pericak-Vance MA, Betz H, Bartlett RJ, Speer MC and Drezner MK.
Journal Genomics 7 (3), 439-441 (1990)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.