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Entry version 156 (07 Apr 2021)
Sequence version 3 (10 Feb 2009)
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Protein

Kinetochore scaffold 1

Gene

KNL1

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

Annotation score:5 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

Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore.3 Publications

<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 - Biological processi

<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

Biological processCell cycle, Cell division, Chromosome partition, Mitosis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q8NG31

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813, Separation of Sister Chromatids
R-HSA-2500257, Resolution of Sister Chromatid Cohesion
R-HSA-5663220, RHO GTPases Activate Formins
R-HSA-606279, Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-68877, Mitotic Prometaphase
R-HSA-9648025, EML4 and NUDC in mitotic spindle formation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8NG31

<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%5Fand%5Ftaxonomy%5Fsection">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:
Kinetochore scaffold 1
Alternative name(s):
ALL1-fused gene from chromosome 15q14 protein
Short name:
AF15q14
Bub-linking kinetochore protein
Short name:
Blinkin
Cancer susceptibility candidate gene 5 protein
Cancer/testis antigen 29
Short name:
CT29
Kinetochore-null protein 1
Protein CASC5
Protein D40/AF15q14
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:KNL1Imported
Synonyms:CASC5, KIAA1570
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 15

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:24054, KNL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609173, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NG31

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000137812.19

<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

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore, Nucleus

<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

A chromosomal aberration involving KNL1 is associated with acute myeloblastic leukemia (AML). Translocation t(11;15)(q23;q14) with KMT2A. May give rise to a KMT2A-KNL1 fusion protein.1 Publication
Microcephaly 4, primary, autosomal recessive (MCPH4)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0690852041M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. 2 PublicationsCorresponds to variant dbSNP:rs763915472Ensembl.1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei1818 – 1819Breakpoint for translocation to form KMT2A-KNL11 Publication2

Keywords - Diseasei

Disease variant, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNET

More...
DisGeNETi
57082

MalaCards human disease database

More...
MalaCardsi
KNL1
MIMi604321, phenotype

Open Targets

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OpenTargetsi
ENSG00000137812

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

More...
Orphaneti
2512, Autosomal recessive primary microcephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA142672201

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q8NG31, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KNL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
223590239

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000893271 – 2342Kinetochore scaffold 1Add BLAST2342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei32PhosphoserineCombined sources1
Modified residuei60PhosphoserineCombined sources1
Modified residuei539PhosphothreonineCombined sources1
Modified residuei578PhosphoserineCombined sources1
Modified residuei584PhosphoserineCombined sources1
Modified residuei586PhosphothreonineCombined sources1
Modified residuei767PhosphoserineCombined sources1
Modified residuei956PhosphoserineCombined sources1
Modified residuei1039PhosphoserineCombined sources1
Modified residuei1076PhosphoserineCombined sources1
Modified residuei1088PhosphoserineCombined sources1
Modified residuei1448PhosphoserineCombined sources1
Modified residuei1675PhosphoserineCombined sources1
Modified residuei1773PhosphoserineCombined sources1
Modified residuei1831PhosphoserineCombined sources1
Modified residuei1845PhosphoserineCombined sources1
Modified residuei1860PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NG31

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8NG31

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8NG31

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8NG31

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

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PaxDbi
Q8NG31

PeptideAtlas

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PeptideAtlasi
Q8NG31

PRoteomics IDEntifications database

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PRIDEi
Q8NG31

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73413 [Q8NG31-1]
73414 [Q8NG31-2]
73415 [Q8NG31-3]
73416 [Q8NG31-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8NG31

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

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PhosphoSitePlusi
Q8NG31

<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 testis, where it is localized in germ cells, in particular in spermatocytes and in the pre-acrosome of round spermatids. Detected in the acrosome of ejaculated spermatozoa. Detected in adult thymus, bone marrow, colon, small intestine, appendix and placenta, and in fetal liver and thymus.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000137812, Expressed in testis and 142 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NG31, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NG31, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000137812, Group enriched (lymphoid tissue, testis)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with DSN1, MIS12, BUB1, BUB1B, NSL1 and ZWINT.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
121354, 67 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-5644, Kinetochore KNL1 complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8NG31

Database of interacting proteins

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DIPi
DIP-36474N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q8NG31

Protein interaction database and analysis system

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IntActi
Q8NG31, 56 interactors

Molecular INTeraction database

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MINTi
Q8NG31

STRING: functional protein association networks

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STRINGi
9606.ENSP00000335463

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q8NG31, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12342
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...
BMRBi
Q8NG31

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8NG31

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q8NG31

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati885 – 9891Add BLAST105
Repeati1099 – 12012Add BLAST103

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 728Interaction with BUB1 and BUB1B1 PublicationAdd BLAST728
Regioni855 – 12012 X 104 AA approximate repeatsAdd BLAST347
Regioni1834 – 2316Necessary for kinetochore localization and for interaction with NSL1 and DSN11 PublicationAdd BLAST483

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1942 – 2133Sequence analysisAdd BLAST192

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi1789 – 1803Nuclear localization signalSequence analysisAdd BLAST15

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QW5H, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00410000025918

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NG31

Identification of Orthologs from Complete Genome Data

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OMAi
ITRSHTI

Database of Orthologous Groups

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OrthoDBi
1249457at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8NG31

TreeFam database of animal gene trees

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TreeFami
TF335517

Family and domain databases

Database of protein disorder

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DisProti
DP01269

Intrinsically Disordered proteins with Extensive Annotations and Literature

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IDEALi
IID00417

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR037388, Blinkin
IPR043651, KNL1_MELT_rep
IPR040850, Knl1_RWD_C

The PANTHER Classification System

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PANTHERi
PTHR16520, PTHR16520, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF18210, Knl1_RWD_C, 1 hit
PF19221, MELT, 12 hits

<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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NG31-1) [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
MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL
60 70 80 90 100
RNKKNSRRVS FADTIKVFQT ESHMKIVRKS EMEGCSAMVP SQLQLLPPGF
110 120 130 140 150
KRFSCLSLPE TETGENLLLI QNKKLEDNYC EITGMNTLLS APIHTQMQQK
160 170 180 190 200
EFSIIEHTRE RKHANDQTVI FSDENQMDLT SSHTVMITKG LLDNPISEKS
210 220 230 240 250
TKIDTTSFLA NLKLHTEDSR MKKEVNFSVD QNTSSENKID FNDFIKRLKT
260 270 280 290 300
GKCSAFPDVP DKENFEIPIY SKEPNSASST HQMHVSLKED ENNSNITRLF
310 320 330 340 350
REKDDGMNFT QCHTANIQTL IPTSSETNSR ESKGNDITIY GNDFMDLTFN
360 370 380 390 400
HTLQILPATG NFSEIENQTQ NAMDVTTGYG TKASGNKTVF KSKQNTAFQD
410 420 430 440 450
LSINSADKIH ITRSHIMGAE THIVSQTCNQ DARILAMTPE SIYSNPSIQG
460 470 480 490 500
CKTVFYSSCN DAMEMTKCLS NMREEKNLLK HDSNYAKMYC NPDAMSSLTE
510 520 530 540 550
KTIYSGEENM DITKSHTVAI DNQIFKQDQS NVQIAAAPTP EKEMMLQNLM
560 570 580 590 600
TTSEDGKMNV NCNSVPHVSK ERIQQSLSNP LSISLTDRKT ELLSGENMDL
610 620 630 640 650
TESHTSNLGS QVPLAAYNLA PESTSESHSQ SKSSSDECEE ITKSRNEPFQ
660 670 680 690 700
RSDIIAKNSL TDTWNKDKDW VLKILPYLDK DSPQSADCNQ EIATSHNIVY
710 720 730 740 750
CGGVLDKQIT NRNTVSWEQS LFSTTKPLFS SGQFSMKNHD TAISSHTVKS
760 770 780 790 800
VLGQNSKLAE PLRKSLSNPT PDYCHDKMII CSEEEQNMDL TKSHTVVIGF
810 820 830 840 850
GPSELQELGK TNLEHTTGQL TTMNRQIAVK VEKCGKSPIE KSGVLKSNCI
860 870 880 890 900
MDVLEDESVQ KPKFPKEKQN VKIWGRKSVG GPKIDKTIVF SEDDKNDMDI
910 920 930 940 950
TKSYTIEINH RPLLEKRDCH LVPLAGTSET ILYTCRQDDM EITRSHTTAL
960 970 980 990 1000
ECKTVSPDEI TTRPMDKTVV FVDNHVELEM TESHTVFIDY QEKERTDRPN
1010 1020 1030 1040 1050
FELSQRKSLG TPTVICTPTE ESVFFPGNGE SDRLVANDSQ LTPLEEWSNN
1060 1070 1080 1090 1100
RGPVEVADNM ELSKSATCKN IKDVQSPGFL NEPLSSKSQR RKSLKLKNDK
1110 1120 1130 1140 1150
TIVFSENHKN DMDITQSCMV EIDNESALED KEDFHLAGAS KTILYSCGQD
1160 1170 1180 1190 1200
DMEITRSHTT ALECKTLLPN EIAIRPMDKT VLFTDNYSDL EVTDSHTVFI
1210 1220 1230 1240 1250
DCQATEKILE ENPKFGIGKG KNLGVSFPKD NSCVQEIAEK QALAVGNKIV
1260 1270 1280 1290 1300
LHTEQKQQLF AATNRTTNEI IKFHSAAMDE KVIGKVVDQA CTLEKAQVES
1310 1320 1330 1340 1350
CQLNNRDRRN VDFTSSHATA VCGSSDNYSC LPNVISCTDN LEGSAMLLCD
1360 1370 1380 1390 1400
KDEEKANYCP VQNDLAYAND FASEYYLESE GQPLSAPCPL LEKEEVIQTS
1410 1420 1430 1440 1450
TKGQLDCVIT LHKDQDLIKD PRNLLANQTL VYSQDLGEMT KLNSKRVSFK
1460 1470 1480 1490 1500
LPKDQMKVYV DDIYVIPQPH FSTDQPPLPK KGQSSINKEE VILSKAGNKS
1510 1520 1530 1540 1550
LNIIENSSAP ICENKPKILN SEEWFAAACK KELKENIQTT NYNTALDFHS
1560 1570 1580 1590 1600
NSDVTKQVIQ THVNAGEAPD PVITSNVPCF HSIKPNLNNL NGKTGEFLAF
1610 1620 1630 1640 1650
QTVHLPPLPE QLLELGNKAH NDMHIVQATE IHNINIISSN AKDSRDEENK
1660 1670 1680 1690 1700
KSHNGAETTS LPPKTVFKDK VRRCSLGIFL PRLPNKRNCS VTGIDDLEQI
1710 1720 1730 1740 1750
PADTTDINHL ETQPVSSKDS GIGSVAGKLN LSPSQYINEE NLPVYPDEIN
1760 1770 1780 1790 1800
SSDSINIETE EKALIETYQK EISPYENKMG KTCNSQKRTW VQEEEDIHKE
1810 1820 1830 1840 1850
KKIRKNEIKF SDTTQDREIF DHHTEEDIDK SANSVLIKNL SRTPSSCSSS
1860 1870 1880 1890 1900
LDSIKADGTS LDFSTYRSSQ MESQFLRDTI CEESLREKLQ DGRITIREFF
1910 1920 1930 1940 1950
ILLQVHILIQ KPRQSNLPGN FTVNTPPTPE DLMLSQYVYR PKIQIYREDC
1960 1970 1980 1990 2000
EARRQKIEEL KLSASNQDKL LVDINKNLWE KMRHCSDKEL KAFGIYLNKI
2010 2020 2030 2040 2050
KSCFTKMTKV FTHQGKVALY GKLVQSAQNE REKLQIKIDE MDKILKKIDN
2060 2070 2080 2090 2100
CLTEMETETK NLEDEEKNNP VEEWDSEMRA AEKELEQLKT EEEELQRNLL
2110 2120 2130 2140 2150
ELEVQKEQTL AQIDFMQKQR NRTEELLDQL SLSEWDVVEW SDDQAVFTFV
2160 2170 2180 2190 2200
YDTIQLTITF EESVVGFPFL DKRYRKIVDV NFQSLLDEDQ APPSSLLVHK
2210 2220 2230 2240 2250
LIFQYVEEKE SWKKTCTTQH QLPKMLEEFS LVVHHCRLLG EEIEYLKRWG
2260 2270 2280 2290 2300
PNYNLMNIDI NNNELRLLFS SSAAFAKFEI TLFLSAYYPS VPLPSTIQNH
2310 2320 2330 2340
VGNTSQDDIA TILSKVPLEN NYLKNVVKQI YQDLFQDCHF YH
Length:2,342
Mass (Da):265,391
Last modified:February 10, 2009 - v3
<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:i8E29150CA4F5B5C1
GO
Isoform 2 (identifier: Q8NG31-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: Missing.

Show »
Length:2,316
Mass (Da):262,632
Checksum:iA04548DF87BCA275
GO
Isoform 3 (identifier: Q8NG31-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: Missing.
     1764-1772: LIETYQKEI → VGTRRRRYS
     1773-2342: Missing.

Show »
Length:1,746
Mass (Da):195,604
Checksum:i3D0CEE718D1D2370
GO
Isoform 4 (identifier: Q8NG31-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     84-109: Missing.
     1819-1859: IFDHHTEEDI...SLDSIKADGT → VSSVLNQRMF...SGRQKIIIST
     1860-2342: Missing.

Show »
Length:1,833
Mass (Da):205,826
Checksum:iCB7FF1D71B561F62
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 are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PPJ1E9PPJ1_HUMAN
Kinetochore scaffold 1
KNL1
1,746Annotation score:

Annotation score:2 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>
H0YCZ2H0YCZ2_HUMAN
Kinetochore scaffold 1
KNL1
1,361Annotation 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>
H0YEY7H0YEY7_HUMAN
Kinetochore scaffold 1
KNL1
193Annotation 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>
H0YN41H0YN41_HUMAN
Kinetochore scaffold 1
KNL1
80Annotation 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>
A0A0G2JL96A0A0G2JL96_HUMAN
Kinetochore scaffold 1
KNL1
10Annotation 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>
A0A1Y8EIW7A0A1Y8EIW7_HUMAN
Kinetochore scaffold 1
KNL1
7Annotation 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 conflicti37L → H in AAM45143 (PubMed:12618768).Curated1
Sequence conflicti1332P → A in BAC05691 (PubMed:12087463).Curated1
Sequence conflicti1357N → H in BAC05691 (PubMed:12087463).Curated1
Sequence conflicti1756N → Y in BAC05691 (PubMed:12087463).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02642843R → T1 PublicationCorresponds to variant dbSNP:rs7177192EnsemblClinVar.1
Natural variantiVAR_02642970T → A. Corresponds to variant dbSNP:rs16970874Ensembl.1
Natural variantiVAR_026430113T → A1 PublicationCorresponds to variant dbSNP:rs12911738Ensembl.1
Natural variantiVAR_061568177M → V. Corresponds to variant dbSNP:rs35146555Ensembl.1
Natural variantiVAR_026431486A → S2 PublicationsCorresponds to variant dbSNP:rs2412541Ensembl.1
Natural variantiVAR_054342598M → T4 PublicationsCorresponds to variant dbSNP:rs11858113Ensembl.1
Natural variantiVAR_026432936R → G3 PublicationsCorresponds to variant dbSNP:rs8040502EnsemblClinVar.1
Natural variantiVAR_0615691190L → V. Corresponds to variant dbSNP:rs58614880Ensembl.1
Natural variantiVAR_0264331285K → E1 PublicationCorresponds to variant dbSNP:rs17747633Ensembl.1
Natural variantiVAR_0264341473T → A1 PublicationCorresponds to variant dbSNP:rs16970911Ensembl.1
Natural variantiVAR_0690852041M → I in MCPH4; may inactivate an exonic splicing enhancer and result in abnormal splicing. 2 PublicationsCorresponds to variant dbSNP:rs763915472Ensembl.1
Natural variantiVAR_0615702338C → Y. Corresponds to variant dbSNP:rs61164860Ensembl.1

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_01379584 – 109Missing in isoform 2, isoform 3 and isoform 4. 2 PublicationsAdd BLAST26
Alternative sequenceiVSP_0137961764 – 1772LIETYQKEI → VGTRRRRYS in isoform 3. 1 Publication9
Alternative sequenceiVSP_0137971773 – 2342Missing in isoform 3. 1 PublicationAdd BLAST570
Alternative sequenceiVSP_0185241819 – 1859IFDHH…KADGT → VSSVLNQRMFLNFGFCFVFL NCGYSQILILVSGRQKIIIS T in isoform 4. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_0185251860 – 2342Missing in isoform 4. 1 PublicationAdd BLAST483

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF248041 mRNA Translation: AAF97513.1
AF461041 mRNA Translation: AAL67803.1
AB022190 mRNA Translation: BAC05691.1
AF173994 mRNA Translation: AAM45143.1
AC022405 Genomic DNA No translation available.
AB046790 mRNA Translation: BAB13396.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42023.1 [Q8NG31-1]
CCDS42024.1 [Q8NG31-2]

NCBI Reference Sequences

More...
RefSeqi
NP_653091.3, NM_144508.4 [Q8NG31-2]
NP_733468.3, NM_170589.4 [Q8NG31-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000346991; ENSP00000335463; ENSG00000137812 [Q8NG31-1]
ENST00000399668; ENSP00000382576; ENSG00000137812 [Q8NG31-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57082

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57082

UCSC genome browser

More...
UCSCi
uc010bbs.2, human [Q8NG31-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF248041 mRNA Translation: AAF97513.1
AF461041 mRNA Translation: AAL67803.1
AB022190 mRNA Translation: BAC05691.1
AF173994 mRNA Translation: AAM45143.1
AC022405 Genomic DNA No translation available.
AB046790 mRNA Translation: BAB13396.1
CCDSiCCDS42023.1 [Q8NG31-1]
CCDS42024.1 [Q8NG31-2]
RefSeqiNP_653091.3, NM_144508.4 [Q8NG31-2]
NP_733468.3, NM_170589.4 [Q8NG31-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3SI5X-ray2.20X/Y234-252[»]
4A1GX-ray2.60E/F/G/H176-226[»]
4NF9X-ray2.80A/B2117-2337[»]
4NFAX-ray2.50A2131-2337[»]
BMRBiQ8NG31
SMRiQ8NG31
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi121354, 67 interactors
ComplexPortaliCPX-5644, Kinetochore KNL1 complex
CORUMiQ8NG31
DIPiDIP-36474N
ELMiQ8NG31
IntActiQ8NG31, 56 interactors
MINTiQ8NG31
STRINGi9606.ENSP00000335463

PTM databases

iPTMnetiQ8NG31
PhosphoSitePlusiQ8NG31

Genetic variation databases

BioMutaiKNL1
DMDMi223590239

Proteomic databases

EPDiQ8NG31
jPOSTiQ8NG31
MassIVEiQ8NG31
MaxQBiQ8NG31
PaxDbiQ8NG31
PeptideAtlasiQ8NG31
PRIDEiQ8NG31
ProteomicsDBi73413 [Q8NG31-1]
73414 [Q8NG31-2]
73415 [Q8NG31-3]
73416 [Q8NG31-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
23122, 111 antibodies

The CPTC Antibody Portal

More...
CPTCi
Q8NG31, 1 antibody

The DNASU plasmid repository

More...
DNASUi
57082

Genome annotation databases

EnsembliENST00000346991; ENSP00000335463; ENSG00000137812 [Q8NG31-1]
ENST00000399668; ENSP00000382576; ENSG00000137812 [Q8NG31-2]
GeneIDi57082
KEGGihsa:57082
UCSCiuc010bbs.2, human [Q8NG31-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57082
DisGeNETi57082

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KNL1
HGNCiHGNC:24054, KNL1
HPAiENSG00000137812, Group enriched (lymphoid tissue, testis)
MalaCardsiKNL1
MIMi604321, phenotype
609173, gene
neXtProtiNX_Q8NG31
OpenTargetsiENSG00000137812
Orphaneti2512, Autosomal recessive primary microcephaly
PharmGKBiPA142672201
VEuPathDBiHostDB:ENSG00000137812.19

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QW5H, Eukaryota
GeneTreeiENSGT00410000025918
InParanoidiQ8NG31
OMAiITRSHTI
OrthoDBi1249457at2759
PhylomeDBiQ8NG31
TreeFamiTF335517

Enzyme and pathway databases

PathwayCommonsiQ8NG31
ReactomeiR-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813, Separation of Sister Chromatids
R-HSA-2500257, Resolution of Sister Chromatid Cohesion
R-HSA-5663220, RHO GTPases Activate Formins
R-HSA-606279, Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-68877, Mitotic Prometaphase
R-HSA-9648025, EML4 and NUDC in mitotic spindle formation
SIGNORiQ8NG31

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
57082, 568 hits in 1003 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
KNL1, human
EvolutionaryTraceiQ8NG31

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CASC5

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

More...
GenomeRNAii
57082
PharosiQ8NG31, Tbio

Protein Ontology

More...
PROi
PR:Q8NG31
RNActiQ8NG31, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000137812, Expressed in testis and 142 other tissues
ExpressionAtlasiQ8NG31, baseline and differential
GenevisibleiQ8NG31, HS

Family and domain databases

DisProtiDP01269
IDEALiIID00417
InterProiView protein in InterPro
IPR037388, Blinkin
IPR043651, KNL1_MELT_rep
IPR040850, Knl1_RWD_C
PANTHERiPTHR16520, PTHR16520, 1 hit
PfamiView protein in Pfam
PF18210, Knl1_RWD_C, 1 hit
PF19221, MELT, 12 hits

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 nameiKNL1_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: Q8NG31
Secondary accession number(s): Q8NHE1
, Q8WXA6, Q9HCK2, Q9NR92
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2005
Last sequence update: February 10, 2009
Last modified: April 7, 2021
This is version 156 of the entry and version 3 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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