• 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 Services Price Order
NM_001127698 Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 1, mRNA. ORF Sequence $1149.75
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Antibody Services
Protein Services


RefSeq Version NM_001127698.1, 189163500
Length 3745 bp
Structure linear
Update Date 18-APR-2013
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)785..889
Misc Feature(7)1004..>1087
Misc Feature(8)1214..>1300
Misc Feature(9)1424..>1510
Misc Feature(10)1601..>1681
Misc Feature(11)1814..>1900
Misc Feature(12)2006..>2092
Misc Feature(13)2234..>2320
Misc Feature(14)2432..>2503
Misc Feature(15)2660..>2749
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
49+a, gdbSNP:202213668
55+a, gdbSNP:12522603
65+a, gdbSNP:201257370
178+dbSNP:
178+a, tdbSNP:200250655
192+c, gdbSNP:73269156
212+g, tdbSNP:199620733
252+g, tdbSNP:75257702
389+dbSNP:
389+a, gdbSNP:17860502
566+dbSNP:
566+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
725+c, tdbSNP:199757347
811+dbSNP:
811+c, tdbSNP:149544665
823+c, tdbSNP:199793551
825+g, tdbSNP:201911503
872+dbSNP:
872+a, cdbSNP:200808369
873+a, gdbSNP:6892205
875+c, tdbSNP:142558269
907+a, cdbSNP:201354872
966+dbSNP:
966+a, gdbSNP:201879958
1077+c, tdbSNP:34482796
1176+dbSNP:
1176+a, gdbSNP:2303063
1201+c, tdbSNP:78128189
1205+a, cdbSNP:180696183
1229+a, gdbSNP:2303064
1256+a, gdbSNP:17775319
1261+c, tdbSNP:2303065
1265+a, gdbSNP:201958620
1309+dbSNP:
1309+a, gdbSNP:201793047
1331+a, gdbSNP:2303067
1395+dbSNP:
1395+c, tdbSNP:34393923
1417+a, gdbSNP:17107741
1462+a, gdbSNP:6896303
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
1630+g, tdbSNP:880687
1678+g, tdbSNP:201831966
1732+dbSNP:
1732+a, gdbSNP:2303071
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
2028+dbSNP:
2028+c, tdbSNP:191160111
2033+c, tdbSNP:199567491
2034+a, gdbSNP:182767534
2037+a, gdbSNP:142227576
2134+dbSNP:
2134+c, tdbSNP:36111383
2145+c, tdbSNP:201433344
2160..2162+, gtgdbSNP:111662216
2197+dbSNP:
2197+c, tdbSNP:200884153
2205+c, tdbSNP:3777134
2316+dbSNP:
2316+a, gdbSNP:181639116
2361+a, tdbSNP:80019167
2431+dbSNP:
2431+c, tdbSNP:17704908
2441+c, tdbSNP:121908387
2442+a, gdbSNP:184189005
2455+c, tdbSNP:188840406
2485+c, tdbSNP:33920397
2492+g, tdbSNP:201815688
2527+dbSNP:
2527+a, cdbSNP:142122542
2548+a, cdbSNP:2303070
2653+dbSNP:
2653+a, gdbSNP:200078609
2670+a, cdbSNP:139522863
2734+c, gdbSNP:28408445
2743+dbSNP:
2743+c, tdbSNP:202016486
2761+a, gdbSNP:202088540
2819+dbSNP:
2819+c, tdbSNP:190012161
2842+c, tdbSNP:3764930
2917+dbSNP:
2917+a, gdbSNP:114635730
2925+a, gdbSNP:73271166
2958+a, gdbSNP:201942775
3012+a, gdbSNP:188030639
3027+c, tdbSNP:115820034
3058+dbSNP:
3058+c, tdbSNP:34966234
3068+a, gdbSNP:3188691
3078+a, gdbSNP:17705005
3138+dbSNP:
3138+c, tdbSNP:186910422
3152+c, tdbSNP:192473445
3172+a, gdbSNP:2400478
3250+c, tdbSNP:199744260
3323+dbSNP:
3323+a, cdbSNP:74716044
3329+a, gdbSNP:199498786
3346+a, gdbSNP:77756935
3352+dbSNP:
3352+c, tdbSNP:200751535
3372+a, gdbSNP:143724137
3379+a, gdbSNP:201869254
3402+c, tdbSNP:4349706
3404+c, tdbSNP:11750345
3417+c, tdbSNP:73794699
3546..3547+, adbSNP:36032656
3566+c, gdbSNP:3088193
3659+c, tdbSNP:187725907
3688+c, tdbSNP:72660265
3718..3719+, ctcdbSNP:35952402
3719..3720+, ctcdbSNP:66586350
3720..3721+, ctcdbSNP:72543452
3721..3722+, ctcdbSNP:55949487
Gene SymbolSPINK5
Gene SynonymLEKTI; LETKI; NETS; NS; VAKTI
Chromosome5
Locus Map5q32
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001127698 Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 1, mRNA. Full Length $1310.75
ORF Sequence $1149.75
NM_001127699 Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 3, mRNA. Full Length $845.35
ORF Sequence $797.79
NM_006846 Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. Full Length $1279.25
ORF Sequence $1118.25
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,W.L., Harper,J., Clayman,G.L., 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,W.J. and Brieger,J.
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,A.C., 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,A.J., Chavanas,S., Moffatt,M.F., Esnouf,R.M., Ubhi,B., Lawrence,R., Wong,K., Abecasis,G.R., Jones,E.Y., Harper,J.I., Hovnanian,A. and Cookson,W.O.
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,J.J., Amin,S., Nielsen,K., Prendiville,J.S., Silverman,R., Esterly,N.B., Spraker,M.K., Guelig,E., de Luna,M.L., Williams,M.L., Buehler,B., Siegfried,E.C., Van Maldergem,L., Pfendner,E., Bale,S.J., 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,A.D., Bonafe,J.L., Wilkinson,J., Taieb,A., Barrandon,Y., Harper,J.I., 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,D.H., Wilkinson,J., Bonafe,J.L., Paradisi,M., Kelsell,D.P., Ansai,Si., Mitsuhashi,Y., Larregue,M., Leigh,I.M., Harper,J.I., Taieb,A., Prost,Yd., Cardon,L.R. 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,H.J., Standker,L., Kreutzmann,P., Zucht,H.D., Reinecke,M., Sommerhoff,C.P., Fritz,H. and Forssmann,W.G.
Journal J. Biol. Chem. 274 (31), 21499-21502 (1999)

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