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Protein

Kyphoscoliosis peptidase

Gene

KY

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity).By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei225 – 2251By similarity
Active sitei267 – 2671By similarity
Active sitei282 – 2821By similarity

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease

Names & Taxonomyi

Protein namesi
Recommended name:
Kyphoscoliosis peptidase (EC:3.4.-.-)
Gene namesi
Name:KY
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:26576. KY.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134878738.

Polymorphism and mutation databases

BioMutaiKY.
DMDMi332278189.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 561561Kyphoscoliosis peptidasePRO_0000288604Add
BLAST

Proteomic databases

PaxDbiQ8NBH2.
PRIDEiQ8NBH2.

PTM databases

iPTMnetiQ8NBH2.
PhosphoSiteiQ8NBH2.

Expressioni

Gene expression databases

BgeeiQ8NBH2.
CleanExiHS_KY.
ExpressionAtlasiQ8NBH2. baseline and differential.
GenevisibleiQ8NBH2. HS.

Organism-specific databases

HPAiHPA036492.

Interactioni

Subunit structurei

Interacts with IGFN1 and FLNC.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000397598.

Structurei

3D structure databases

ProteinModelPortaliQ8NBH2.
SMRiQ8NBH2. Positions 168-308.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the transglutaminase-like superfamily.Curated

Phylogenomic databases

eggNOGiKOG4575. Eukaryota.
COG5279. LUCA.
GeneTreeiENSGT00390000002887.
HOGENOMiHOG000069922.
HOVERGENiHBG105834.
InParanoidiQ8NBH2.
OMAiIFAKGNS.
OrthoDBiEOG7VMP4Q.
TreeFamiTF314397.

Family and domain databases

InterProiIPR002931. Transglutaminase-like.
[Graphical view]
PfamiPF01841. Transglut_core. 1 hit.
[Graphical view]
SMARTiSM00460. TGc. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NBH2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MELKKDINAV SIDMLLIVHS EKRRAAQGTL SDQQANPSSL LQRGGGFQGV
60 70 80 90 100
GNGVRRWQKL EGNDFHENLV EKQHPQQPQV ITSYNSQGTQ LTVEVHPRDA
110 120 130 140 150
MPQLLKKFSL AKRLQGDKNG NTRPRQPGGK DAHAYPWDRS SLKSMSLDLQ
160 170 180 190 200
QFEKLDIYAS QVTAKSGLDE LVSDLLQEAH TDLERVRAIW IWICHHIEYD
210 220 230 240 250
IAAAQEKDRQ AFKPTDILRT QKTNCDGYAG LFERMCRLAG VQCMTVPGYS
260 270 280 290 300
KGFGYQTGQS FSGEFDHAWN AVYLEGRWHL VDSTWGSGLV DTITSKFTFL
310 320 330 340 350
YNEFYFLTHP ALFIEDHFPD NKNWQLLKPP QSLRQFENNM YHKSEFYNKG
360 370 380 390 400
MLSAHPETSM IRTVNGKATV TIESCAPTLF MFMLNGKQEH GLLSLRKNGM
410 420 430 440 450
KLEVYPPTMG THKLQIFAKG NSDIYSSVLE YTLKCNYVDM GVQLPAELHQ
460 470 480 490 500
PVGPSWFSEQ MGIMKPSHPD PIIHTSDGRC SISFSVEEGI NVLASLHGDD
510 520 530 540 550
GPITEETQRR YIFQLHREKQ TELKVQLPHA GKFALKIYVM VLENANHNFY
560
SYILKYKVNA Q
Length:561
Mass (Da):63,855
Last modified:May 3, 2011 - v2
Checksum:i3746C17922FE04BB
GO
Isoform 2 (identifier: Q8NBH2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     28-45: Missing.
     67-87: Missing.
     147-182: Missing.
     364-444: VNGKATVTIE...CNYVDMGVQL → GEPGAGASVL...SRDKSSLTLA
     445-561: Missing.

Note: No experimental confirmation available.
Show »
Length:369
Mass (Da):41,813
Checksum:iE7C8AD49B36031E2
GO
Isoform 3 (identifier: Q8NBH2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-87: Missing.
     537-537: I → IFVKKRQEPG...SCSTAGCQEV

Show »
Length:640
Mass (Da):72,704
Checksum:iF46F2B10856B1AE7
GO
Isoform 4 (identifier: Q8NBH2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     537-537: I → IFVKKRQEPG...SCSTAGCQEV

Note: No experimental confirmation available.
Show »
Length:661
Mass (Da):75,153
Checksum:i83DB0865A6D8A23F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti159 – 1591A → T in BAC03471 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei28 – 4518Missing in isoform 2. 1 PublicationVSP_025718Add
BLAST
Alternative sequencei67 – 8721Missing in isoform 2 and isoform 3. 1 PublicationVSP_025719Add
BLAST
Alternative sequencei147 – 18236Missing in isoform 2. 1 PublicationVSP_025720Add
BLAST
Alternative sequencei364 – 44481VNGKA…MGVQL → GEPGAGASVLAAGMEHFALS SRSPPETALSRHALPDAWLV SLAQSLCVHVDEWRLLRQPR PSGQGRAIGHISRDKSSLTL A in isoform 2. 1 PublicationVSP_025721Add
BLAST
Alternative sequencei445 – 561117Missing in isoform 2. 1 PublicationVSP_025722Add
BLAST
Alternative sequencei537 – 5371I → IFVKKRQEPGNYIFVFNYLV CCANTKVNWPMFPESFGNWG QDNELLEPLSGVLPANRNVP FKLKLHGIAKVLVKGQDTWP LTLNHEGYWEGSCSTAGCQE V in isoform 3 and isoform 4. 1 PublicationVSP_040975

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090526 mRNA. Translation: BAC03471.1.
AK126993 mRNA. Translation: BAC86780.1.
AK293840 mRNA. Translation: BAH11610.1.
AC016931 Genomic DNA. No translation available.
AC109912 Genomic DNA. No translation available.
CCDSiCCDS46920.1. [Q8NBH2-4]
RefSeqiNP_848649.3. NM_178554.4. [Q8NBH2-4]
UniGeneiHs.146730.

Genome annotation databases

EnsembliENST00000423778; ENSP00000397598; ENSG00000174611. [Q8NBH2-4]
ENST00000508956; ENSP00000421297; ENSG00000174611. [Q8NBH2-3]
GeneIDi339855.
KEGGihsa:339855.
UCSCiuc010hty.4. human. [Q8NBH2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090526 mRNA. Translation: BAC03471.1.
AK126993 mRNA. Translation: BAC86780.1.
AK293840 mRNA. Translation: BAH11610.1.
AC016931 Genomic DNA. No translation available.
AC109912 Genomic DNA. No translation available.
CCDSiCCDS46920.1. [Q8NBH2-4]
RefSeqiNP_848649.3. NM_178554.4. [Q8NBH2-4]
UniGeneiHs.146730.

3D structure databases

ProteinModelPortaliQ8NBH2.
SMRiQ8NBH2. Positions 168-308.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000397598.

PTM databases

iPTMnetiQ8NBH2.
PhosphoSiteiQ8NBH2.

Polymorphism and mutation databases

BioMutaiKY.
DMDMi332278189.

Proteomic databases

PaxDbiQ8NBH2.
PRIDEiQ8NBH2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000423778; ENSP00000397598; ENSG00000174611. [Q8NBH2-4]
ENST00000508956; ENSP00000421297; ENSG00000174611. [Q8NBH2-3]
GeneIDi339855.
KEGGihsa:339855.
UCSCiuc010hty.4. human. [Q8NBH2-1]

Organism-specific databases

CTDi339855.
GeneCardsiKY.
H-InvDBHIX0020480.
HGNCiHGNC:26576. KY.
HPAiHPA036492.
MIMi605739. gene.
neXtProtiNX_Q8NBH2.
PharmGKBiPA134878738.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4575. Eukaryota.
COG5279. LUCA.
GeneTreeiENSGT00390000002887.
HOGENOMiHOG000069922.
HOVERGENiHBG105834.
InParanoidiQ8NBH2.
OMAiIFAKGNS.
OrthoDBiEOG7VMP4Q.
TreeFamiTF314397.

Miscellaneous databases

GenomeRNAii339855.
PROiQ8NBH2.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NBH2.
CleanExiHS_KY.
ExpressionAtlasiQ8NBH2. baseline and differential.
GenevisibleiQ8NBH2. HS.

Family and domain databases

InterProiIPR002931. Transglutaminase-like.
[Graphical view]
PfamiPF01841. Transglut_core. 1 hit.
[Graphical view]
SMARTiSM00460. TGc. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
    Tissue: Adrenal gland, Brain and Cerebellum.
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres."
    Beatham J., Romero R., Townsend S.K.M., Hacker T., van der Ven P.F.M., Blanco G.
    Hum. Mol. Genet. 13:2863-2874(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FLNC AND IGNF1.

Entry informationi

Entry nameiKY_HUMAN
AccessioniPrimary (citable) accession number: Q8NBH2
Secondary accession number(s): B7Z1S4, Q6ZT15
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 3, 2011
Last modified: June 8, 2016
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.