• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001127698 Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

*Business Day

Related Services

RefSeq Version NM_001127698.1, 189163500
Length 3745 bp
Structure linear
Update Date 02-FEB-2014
Organism Homo sapiens (human)
Definition Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 1, mRNA.
Product serine protease inhibitor Kazal-type 5 isoform a precursor
Comment

Summary: This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1, also known as SPINK5l) represents the longest transcript and encodes the longest isoform (a, also known as the LEKTIl or long isoform).

RefSeq NP_001121170.1
CDS 74..3358
Misc Feature(1)50..52
Misc Feature(2)392..526
Misc Feature(3)410..415
Misc Feature(4)410..412
Misc Feature(5)596..700
Misc Feature(6)788..>886
Misc Feature(7)1004..1117
Misc Feature(8)1214..>1300
Misc Feature(9)1424..>1510
Misc Feature(10)1601..>1681
Misc Feature(11)1814..1927
Misc Feature(12)2009..>2092
Misc Feature(13)2234..2353
Misc Feature(14)2435..2548
Misc Feature(15)2660..2773
Misc Feature(16)2951..3058
Misc Feature(17)3167..3301
Misc Feature(18)3185..3190
Misc Feature(19)3185..3187
Exon (1)1..128
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (2)129..154
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (3)155..282
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (4)283..355
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (5)356..483
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (6)484..547
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (7)548..675
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (8)676..739
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (9)740..867
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (10)868..955
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (11)956..1083
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (12)1084..1165
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (13)1166..1293
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (14)1294..1375
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (15)1376..1503
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (16)1504..1552
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (17)1553..1680
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (18)1681..1765
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (19)1766..1893
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (20)1894..1960
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (21)1961..2088
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (22)2089..2185
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (23)2186..2313
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (24)2314..2386
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (25)2387..2514
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (26)2515..2611
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (27)2612..2739
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (28)2740..2812
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (29)2813..2902
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (30)2903..3030
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (31)3031..3127
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (32)3128..3258
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (33)3259..3349
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Exon (34)3350..3729
Gene:SPINK5
Gene Synonym:LEKTI; LETKI; NETS; NS; VAKTI
Translation MKIATVSVLLPLALCLIQDAASKNEDQEMCHEFQAFMKNGKLFCPQDKKFFQSLDGIMFI NKCATCKMILEKEAKSQKRARHLARAPKATAPTELNCDDFKKGERDGDFICPDYYEAVCG TDGKTYDNRCALCAENAKTGSQIGVKSEGECKSSNPEQDVCSAFRPFVRDGRLGCTREND PVLGPDGKTHGNKCAMCAELFLKEAENAKREGETRIRRNAEKDFCKEYEKQVRNGRLFCT RESDPVRGPDGRMHGNKCALCAEIFKQRFSEENSKTDQNLGKAEEKTKVKREIVKLCSQY QNQAKNGILFCTRENDPIRGPDGKMHGNLCSMCQAYFQAENEEKKKAEARARNKRESGKA TSYAELCSEYRKLVRNGKLACTRENDPIQGPDGKVHGNTCSMCEVFFQAEEEEKKKKEGK SRNKRQSKSTASFEELCSEYRKSRKNGRLFCTRENDPIQGPDGKMHGNTCSMCEAFFQQE ERARAKAKREAAKEICSEFRDQVRNGTLICTREHNPVRGPDGKMHGNKCAMCASVFKLEE EEKKNDKEEKGKVEAEKVKREAVQELCSEYRHYVRNGRLPCTRENDPIEGLDGKIHGNTC SMCEAFFQQEAKEKERAEPRAKVKREAEKETCDEFRRLLQNGKLFCTRENDPVRGPDGKT HGNKCAMCKAVFQKENEERKRKEEEDQRNAAGHGSSGGGGGNTQDECAEYREQMKNGRLS CTRESDPVRDADGKSYNNQCTMCKAKLEREAERKNEYSRSRSNGTGSESGKDTCDEFRSQ MKNGKLICTRESDPVRGPDGKTHGNKCTMCKEKLEREAAEKKKKEDEDRSNTGERSNTGE RSNDKEDLCREFRSMQRNGKLICTRENNPVRGPYGKMHINKCAMCQSIFDREANERKKKD EEKSSSKPSNNAKDQCRQVQNEAEDAKFRQPGRSLASVARMSTDECSEFRNYIRNNELIC PRENDPVHGADGKFYTNKCYMCRAVFLTEALERAKLQEKPSHVRASQEEDSPDSFSSLDS EMCKDYRVLPRIGYLCPKDLKPVCGDDGQTYNNPCMLCHENLIRQTNTHIRSTGKCEESS TPGTTAASMPPSDE
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Position Chain Variation Link
13+dbSNP:
13+a, cdbSNP:74572734
13+g, tdbSNP:386455107
23+a, tdbSNP:367964540
49+a, gdbSNP:202213668
55+a, gdbSNP:12522603
65+a, gdbSNP:201257370
70+c, tdbSNP:374853787
119+c, tdbSNP:370369039
121+c, tdbSNP:374054110
173+dbSNP:
173+a, cdbSNP:376417849
178+a, tdbSNP:200250655
192+c, gdbSNP:73269156
212+g, tdbSNP:199620733
252+g, tdbSNP:75257702
255+a, gdbSNP:377031902
268+g, tdbSNP:370397387
386+dbSNP:
386+a, gdbSNP:371334869
389+a, gdbSNP:17860502
449+a, tdbSNP:371569547
450+a, gdbSNP:376123101
467+c, tdbSNP:368159711
475+c, tdbSNP:371877583
513+dbSNP:
513+a, gdbSNP:374790471
566+dbSNP:
566+a, c, tdbSNP:192473184
599+a, gdbSNP:200801701
604+c, tdbSNP:35121983
624+a, gdbSNP:201812473
671+c, tdbSNP:114784178
695+dbSNP:
695+a, gdbSNP:200583548
702+a, gdbSNP:373782929
722+c, tdbSNP:367958902
725+c, tdbSNP:199757347
750+dbSNP:
750+a, gdbSNP:370010334
811+c, tdbSNP:149544665
812+c, tdbSNP:371290967
823+c, tdbSNP:199793551
825+g, tdbSNP:201911503
826+c, tdbSNP:376643233
848+g, tdbSNP:369086301
849+c, tdbSNP:373819431
872+dbSNP:
872+a, cdbSNP:200808369
873+a, gdbSNP:6892205
875+c, tdbSNP:142558269
876+a, gdbSNP:375727921
907+a, cdbSNP:201354872
966+dbSNP:
966+a, gdbSNP:201879958
993+a, gdbSNP:374362948
1026+c, tdbSNP:368748670
1028+c, tdbSNP:372354012
1075+a, gdbSNP:376414452
1077+c, tdbSNP:34482796
1119+dbSNP:
1119+c, tdbSNP:369986306
1121+c, gdbSNP:373463881
1157+a, tdbSNP:375573803
1176+dbSNP:
1176+a, gdbSNP:2303063
1201+c, tdbSNP:78128189
1202+a, gdbSNP:376109480
1205+a, cdbSNP:180696183
1208+c, tdbSNP:371578291
1228+c, tdbSNP:376653554
1229+a, gdbSNP:2303064
1238+c, gdbSNP:371745897
1256+a, gdbSNP:17775319
1261+c, tdbSNP:2303065
1264+c, tdbSNP:369599875
1265+a, gdbSNP:201958620
1288+c, tdbSNP:267600475
1309+dbSNP:
1309+a, gdbSNP:201793047
1331+a, gdbSNP:2303067
1395+dbSNP:
1395+c, tdbSNP:34393923
1416+a, gdbSNP:375796789
1417+a, gdbSNP:17107741
1462+a, gdbSNP:6896303
1474+c, tdbSNP:374181561
1523+dbSNP:
1523+a, gdbSNP:201447641
1524+a, gdbSNP:190657753
1571+dbSNP:
1571+c, tdbSNP:201611101
1572+a, gdbSNP:201428589
1598+a, gdbSNP:201926841
1612+a, gdbSNP:184512279
1613+a, cdbSNP:189170702
1620+c, gdbSNP:193173267
1625+c, tdbSNP:115504632
complement(1630)-t, gdbSNP:880687
1630+g, tdbSNP:386619046
1678+g, tdbSNP:201831966
complement(1732)-dbSNP:
complement(1732)-g, adbSNP:2303071
1733+a, gdbSNP:374599097
1745+g, tdbSNP:368959242
1784+dbSNP:
1784+c, tdbSNP:146290813
1805+a, cdbSNP:201674667
1837+a, cdbSNP:35877540
1861+c, tdbSNP:144664803
1868+a, gdbSNP:202199875
1912+dbSNP:
1912+a, tdbSNP:199786670
1924+c, tdbSNP:17718737
1937+a, cdbSNP:369076055
1948+a, tdbSNP:373811778
1954+a, tdbSNP:377608943
1976+dbSNP:
1976+c, tdbSNP:373738148
1979+c, tdbSNP:376918928
2016+a, gdbSNP:371577970
2028+c, tdbSNP:191160111
2033+c, tdbSNP:199567491
2034+a, gdbSNP:182767534
2037+a, gdbSNP:142227576
2072+a, gdbSNP:370317811
2125+dbSNP:
2125+a, gdbSNP:371950840
2134+c, tdbSNP:36111383
2145+c, tdbSNP:201433344
2160..2162+, gtgdbSNP:111662216
2191+dbSNP:
2191+a, gdbSNP:371829387
2197+c, tdbSNP:200884153
2200+a, gdbSNP:369323668
complement(2205)-t, cdbSNP:3777134
2238+c, tdbSNP:377368694
2240+c, tdbSNP:369782107
2275+a, gdbSNP:373932096
2316+dbSNP:
2316+a, gdbSNP:181639116
2348+c, tdbSNP:374182762
2361+a, tdbSNP:80019167
2364+a, gdbSNP:373599568
2365+g, tdbSNP:368503833
2431+dbSNP:
2431+a, gdbSNP:111174718
2431+c, tdbSNP:17704908
2441+c, tdbSNP:121908387
2442+a, gdbSNP:184189005
2455+c, tdbSNP:188840406
2467+a, gdbSNP:374950529
2485+c, tdbSNP:33920397
2492+g, tdbSNP:201815688
2499+a, tdbSNP:375381713
2514+g, tdbSNP:370627042
2527+dbSNP:
2527+a, cdbSNP:142122542
complement(2548)-c, adbSNP:2303070
2576..2578+, aggdbSNP:377339735
2624+dbSNP:
2624+a, gdbSNP:371554638
2631+a, gdbSNP:376107938
2653+a, gdbSNP:200078609
2658+c, tdbSNP:371375041
2670+a, cdbSNP:139522863
2673+a, tdbSNP:267600476
2690+c, gdbSNP:368173332
2734+c, gdbSNP:28408445
2735+a, tdbSNP:375212619
2743+dbSNP:
2743+c, tdbSNP:202016486
2761+a, gdbSNP:202088540
2819+dbSNP:
2819+c, tdbSNP:190012161
2841+c, tdbSNP:369141809
complement(2842)-t, cdbSNP:3764930
2872+c, tdbSNP:377150240
2917+dbSNP:
2917+a, gdbSNP:114635730
2922+c, gdbSNP:371134163
2925+a, gdbSNP:73271166
2958+a, gdbSNP:201942775
2988+a, gdbSNP:368229591
3012+a, gdbSNP:188030639
3027+c, tdbSNP:115820034
3058+dbSNP:
3058+c, tdbSNP:34966234
3068+a, gdbSNP:3188691
3068+c, tdbSNP:386580638
3078+a, gdbSNP:17705005
3138+dbSNP:
3138+c, tdbSNP:186910422
3152+c, tdbSNP:192473445
complement(3172)-g, adbSNP:2400478
3198+c, tdbSNP:373802380
3214+c, tdbSNP:377606671
3227+a, gdbSNP:369555329
3240+g, tdbSNP:373251772
3250+c, tdbSNP:199744260
3276+dbSNP:
3276+a, cdbSNP:370311628
3284+c, tdbSNP:374003659
3295+a, gdbSNP:368156277
3305+a, gdbSNP:371879473
complement(3323)-c, adbSNP:74716044
3329+a, gdbSNP:199498786
3346+a, gdbSNP:77756935
3352+dbSNP:
3352+c, tdbSNP:200751535
3362+g, tdbSNP:373826670
3372+a, gdbSNP:143724137
3379+a, gdbSNP:201869254
3402+c, tdbSNP:4349706
3404+c, tdbSNP:11750345
3417+c, tdbSNP:73794699
3547..3548+, adbSNP:36032656
complement(3566)-g, cdbSNP:3088193
3659+c, tdbSNP:187725907
3688+c, tdbSNP:72660265
3718..3719+, ctcdbSNP:35952402
3718+a, cdbSNP:368567196
3719..3720+, ctcdbSNP:370361242
3719..3720+, ctcdbSNP:386405256
3720..3721+, ctcdbSNP:72543452
3721..3722+, ctcdbSNP:397704765
Gene SymbolSPINK5
Gene SynonymLEKTI; LETKI; NETS; NS; VAKTI
Chromosome5
Locus Map5q32
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_006846 Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. On-demand TBD TBD
NM_001127699 Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 3, mRNA. On-demand TBD TBD
NM_001127698 Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 1, mRNA. On-demand TBD TBD
Title The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis .
Author Fortugno P, Furio L, Teson M, Berretti M, El Hachem M, Zambruno G, Hovnanian A and D'Alessio M.
Journal Hum. Mol. Genet. 21 (19), 4187-4200 (2012)
Title The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome .
Author Bennett K, Heywood W, Di WL, Harper J, Clayman GL, Jayakumar A, Callard R and Mills K.
Journal J Proteomics 75 (13), 3925-3937 (2012)
Title Low SPINK5 expression in chronic rhinosinusitis .
Author Fruth K, Goebel G, Koutsimpelas D, Gosepath J, Schmidtmann I, Mann
Journal Laryngoscope 122 (6), 1198-1204 (2012)
Title A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements .
Author Fortugno P, Grosso F, Zambruno G, Pastore S, Faletra F and Castiglia D.
Journal J. Hum. Genet. 57 (5), 311-315 (2012)
Title Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations .
Author Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, Deraison C and Hovnanian A.
Journal J. Invest. Dermatol. 132 (3 PT 1), 575-582 (2012)
Title Gene polymorphism in Netherton and common atopic disease .
Author Walley AJ, Chavanas S, Moffatt MF, Esnouf RM, Ubhi B, Lawrence R, Wong K, Abecasis GR, Jones EY, Harper JI, Hovnanian A and Cookson WO.
Journal Nat. Genet. 29 (2), 175-178 (2001)
Title The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis .
Author Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A and Richard G.
Journal J. Invest. Dermatol. 117 (2), 179-187 (2001)
Title Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome .
Author Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafe JL, Wilkinson J, Taieb A, Barrandon Y, Harper JI, de Prost Y and Hovnanian A.
Journal Nat. Genet. 25 (2), 141-142 (2000)
Title Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping .
Author Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafe JL, Paradisi M, Kelsell DP, Ansai Si, Mitsuhashi Y, Larregue M, Leigh IM, Harper JI, Taieb A, Prost Yd, Cardon LR and Hovnanian A.
Journal Am. J. Hum. Genet. 66 (3), 914-921 (2000)
Title LEKTI, a novel 15-domain type of human serine proteinase inhibitor .
Author Magert HJ, Standker L, Kreutzmann P, Zucht HD, Reinecke M, Sommerhoff CP, Fritz H and Forssmann WG.
Journal J. Biol. Chem. 274 (31), 21499-21502 (1999)

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