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UniProtKB - Q8NG31 (KNL1_HUMAN)

Entry version 155 (10 Feb 2021)
Sequence version 3 (10 Feb 2009)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

<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

More...PathwayCommonsi		Q8NG31

Reactome - a knowledgebase of biological pathways and processes

More...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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

More...HGNCi		HGNC:24054, KNL1

Online Mendelian Inheritance in Man (OMIM)

More...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

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

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

More...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

More...PharmGKBi		PA142672201

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...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

More...EPDi		Q8NG31

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NG31

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NG31

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NG31

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

More...PaxDbi		Q8NG31

PeptideAtlas

More...PeptideAtlasi		Q8NG31

PRoteomics IDEntifications database

More...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

More...iPTMneti		Q8NG31

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

More...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

More...ExpressionAtlasi		Q8NG31, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...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)

More...BioGRIDi		121354, 65 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-5644, Kinetochore KNL1 complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8NG31

Database of interacting proteins

More...DIPi		DIP-36474N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q8NG31

Protein interaction database and analysis system

More...IntActi		Q8NG31, 56 interactors

Molecular INTeraction database

More...MINTi		Q8NG31

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000335463

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...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

More...SMRi		Q8NG31

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...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

More...eggNOGi		ENOG502QW5H, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00410000025918

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NG31

Identification of Orthologs from Complete Genome Data

More...OMAi		ITRSHTI

Database of Orthologous Groups

More...OrthoDBi		1249457at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NG31

TreeFam database of animal gene trees

More...TreeFami		TF335517

Family and domain databases

Database of protein disorder

More...DisProti		DP01269

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00417

Integrated resource of protein families, domains and functional sites

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

The PANTHER Classification System

More...PANTHERi		PTHR16520, PTHR16520, 1 hit

Pfam protein domain database

More...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:rs7177192Ensembl.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, 65 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, 110 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, 559 hits in 883 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: February 10, 2021
This is version 155 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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