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Entry version 112 (31 Jul 2019)
Sequence version 2 (03 May 2011)
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Protein

Kyphoscoliosis peptidase

Gene

KY

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei225By similarity1
Active sitei267By similarity1
Active sitei282By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Kyphoscoliosis peptidase (EC:3.4.-.-)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KY
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26576 KY

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605739 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NBH2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Myopathy, myofibrillar, 7 (MFM7)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower limbs, associated with joint contractures.
Related information in OMIM

Keywords - Diseasei

Myofibrillar myopathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
339855

MalaCards human disease database

More...
MalaCardsi
KY
MIMi617114 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000174611

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134878738

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KY

Domain mapping of disease mutations (DMDM)

More...
DMDMi
332278189

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002886041 – 561Kyphoscoliosis peptidaseAdd BLAST561

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8NBH2

PRoteomics IDEntifications database

More...
PRIDEi
Q8NBH2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
72766 [Q8NBH2-1]
72767 [Q8NBH2-2]
72768 [Q8NBH2-3]
72769 [Q8NBH2-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NBH2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8NBH2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000174611 Expressed in 83 organ(s), highest expression level in muscle of leg

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NBH2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NBH2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036492
HPA036668

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with IGFN1 and FLNC.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
130950, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000397598

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the transglutaminase-like superfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4575 Eukaryota
COG5279 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002887

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000069922

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NBH2

Identification of Orthologs from Complete Genome Data

More...
OMAi
CCTNTKV

Database of Orthologous Groups

More...
OrthoDBi
936224at2759

TreeFam database of animal gene trees

More...
TreeFami
TF314397

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR038765 Papain-like_cys_pep_sf
IPR002931 Transglutaminase-like

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01841 Transglut_core, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00460 TGc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54001 SSF54001, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DGA7B4DGA7_HUMAN
Kyphoscoliosis peptidase
KY
308Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti159A → T in BAC03471 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02571828 – 45Missing in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_02571967 – 87Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_025720147 – 182Missing in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_025721364 – 444VNGKA…MGVQL → GEPGAGASVLAAGMEHFALS SRSPPETALSRHALPDAWLV SLAQSLCVHVDEWRLLRQPR PSGQGRAIGHISRDKSSLTL A in isoform 2. 1 PublicationAdd BLAST81
Alternative sequenceiVSP_025722445 – 561Missing in isoform 2. 1 PublicationAdd BLAST117
Alternative sequenceiVSP_040975537I → IFVKKRQEPGNYIFVFNYLV CCANTKVNWPMFPESFGNWG QDNELLEPLSGVLPANRNVP FKLKLHGIAKVLVKGQDTWP LTLNHEGYWEGSCSTAGCQE V in isoform 3 and isoform 4. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46920.1 [Q8NBH2-4]

NCBI Reference Sequences

More...
RefSeqi
NP_848649.3, NM_178554.4 [Q8NBH2-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000423778; ENSP00000397598; ENSG00000174611 [Q8NBH2-4]
ENST00000508956; ENSP00000421297; ENSG00000174611 [Q8NBH2-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
339855

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:339855

UCSC genome browser

More...
UCSCi
uc010hty.4 human [Q8NBH2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi130950, 1 interactor
STRINGi9606.ENSP00000397598

PTM databases

iPTMnetiQ8NBH2
PhosphoSitePlusiQ8NBH2

Polymorphism and mutation databases

BioMutaiKY
DMDMi332278189

Proteomic databases

PaxDbiQ8NBH2
PRIDEiQ8NBH2
ProteomicsDBi72766 [Q8NBH2-1]
72767 [Q8NBH2-2]
72768 [Q8NBH2-3]
72769 [Q8NBH2-4]

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

Comparative Toxicogenomics Database

More...
CTDi
339855
DisGeNETi339855

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KY
HGNCiHGNC:26576 KY
HPAiHPA036492
HPA036668
MalaCardsiKY
MIMi605739 gene
617114 phenotype
neXtProtiNX_Q8NBH2
OpenTargetsiENSG00000174611
Orphaneti496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
PharmGKBiPA134878738

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4575 Eukaryota
COG5279 LUCA
GeneTreeiENSGT00390000002887
HOGENOMiHOG000069922
InParanoidiQ8NBH2
OMAiCCTNTKV
OrthoDBi936224at2759
TreeFamiTF314397

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
339855

Protein Ontology

More...
PROi
PR:Q8NBH2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000174611 Expressed in 83 organ(s), highest expression level in muscle of leg
ExpressionAtlasiQ8NBH2 baseline and differential
GenevisibleiQ8NBH2 HS

Family and domain databases

InterProiView protein in InterPro
IPR038765 Papain-like_cys_pep_sf
IPR002931 Transglutaminase-like
PfamiView protein in Pfam
PF01841 Transglut_core, 1 hit
SMARTiView protein in SMART
SM00460 TGc, 1 hit
SUPFAMiSSF54001 SSF54001, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKY_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NBH2
Secondary accession number(s): B7Z1S4, Q6ZT15
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 3, 2011
Last modified: July 31, 2019
This is version 112 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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