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Protein

Small kinetochore-associated protein

Gene

KNSTRN

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

Functioni

Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase (PubMed:19667759). Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:19667759, PubMed:22110139). The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments (PubMed:21402792). Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division (PubMed:23035123). May be involved in UV-induced apoptosis via its interaction with PRPF19; however, these results need additional evidences (PubMed:24718257).1 Publication4 Publications

GO - Biological processi

  • cell division Source: UniProtKB-KW
  • chromosome segregation Source: UniProtKB
  • mitotic sister chromatid segregation Source: UniProtKB
  • regulation of attachment of spindle microtubules to kinetochore Source: UniProtKB
  • spindle organization Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division, Mitosis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128944-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Small kinetochore-associated protein1 Publication
Short name:
SKAP1 Publication
Alternative name(s):
Kinetochore-localized astrin-binding protein1 Publication
Short name:
Kinastrin1 Publication
Kinetochore-localized astrin/SPAG5-binding protein
TRAF4-associated factor 1
Gene namesi
Name:KNSTRNImported
Synonyms:C15orf23Imported, SKAP1 Publication, TRAF4AF1
ORF Names:HSD11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:30767. KNSTRN.

Subcellular locationi

GO - Cellular componenti

  • condensed chromosome kinetochore Source: UniProtKB-SubCell
  • cytoplasm Source: HPA
  • kinetochore Source: UniProtKB
  • microtubule cytoskeleton Source: HPA
  • microtubule plus-end Source: UniProtKB
  • mitotic spindle Source: UniProtKB
  • nucleus Source: UniProtKB-SubCell
  • spindle pole Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Centromere, Chromosome, Cytoplasm, Cytoskeleton, Kinetochore, Microtubule, Nucleus

Pathology & Biotechi

Involvement in diseasei

Cutaneous squamous cell carcinomas (SCC): A malignancy of the skin. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. Disease susceptibility is associated with variations affecting the gene represented in this entry. Variant Phe-24 appears specific for UV-associated malignancies (PubMed:25194279).

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi90417.
OpenTargetsiENSG00000128944.
PharmGKBiPA134895025.

Polymorphism and mutation databases

BioMutaiKNSTRN.
DMDMi125991199.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002745121 – 316Small kinetochore-associated proteinAdd BLAST316

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei128PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y448.
PaxDbiQ9Y448.
PeptideAtlasiQ9Y448.
PRIDEiQ9Y448.

PTM databases

iPTMnetiQ9Y448.
PhosphoSitePlusiQ9Y448.

Expressioni

Tissue specificityi

Widely expressed, including in skin.1 Publication

Inductioni

Degraded at the end of mitosis. Down-regulated upon exposure to nitric oxide.2 Publications

Gene expression databases

BgeeiENSG00000128944.
CleanExiHS_C15orf23.
ExpressionAtlasiQ9Y448. baseline and differential.
GenevisibleiQ9Y448. HS.

Organism-specific databases

HPAiHPA042027.

Interactioni

Subunit structurei

Part of an astrin (SPAG5)-kinastrin (SKAP) complex containing KNSTRN, SPAG5, PLK1, DYNLL1 and SGO2. Interacts with SPAG5. Directly binds to microtubules, although at relatively low affinity. Interacts with CENPE; this interaction greatly favors microtubule-binding. Interacts with DSN1/MIS13; leading to localization to kinetochores. Interacts with MAPRE1/EB1; leading to localization to the microtubule plus ends. Interacts with PRPF19.3 Publications

Protein-protein interaction databases

BioGridi124714. 44 interactors.
DIPiDIP-31247N.
IntActiQ9Y448. 22 interactors.
MINTiMINT-4832111.
STRINGi9606.ENSP00000249776.

Structurei

3D structure databases

ProteinModelPortaliQ9Y448.
SMRiQ9Y448.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni159 – 316Interaction with SPAG51 PublicationAdd BLAST158

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili166 – 216Sequence analysisAdd BLAST51
Coiled coili248 – 316Sequence analysisAdd BLAST69

Domaini

The coiled coil regions mediate binding to kinetochores.1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IKUT. Eukaryota.
ENOG4111DW5. LUCA.
GeneTreeiENSGT00390000010376.
HOVERGENiHBG083924.
InParanoidiQ9Y448.
OMAiQESTTDH.
OrthoDBiEOG091G0J0K.
PhylomeDBiQ9Y448.
TreeFamiTF336302.

Family and domain databases

InterProiIPR033373. SKAP.
[Graphical view]
PANTHERiPTHR31940. PTHR31940. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y448-1) [UniParc]FASTAAdd to basket

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

« Hide

        10         20         30         40         50
MAAPEAPPLD RVFRTTWLST ECDSHPLPPS YRKFLFETQA ADLAGGTTVA
60 70 80 90 100
AGNLLNESEK DCGQDRRAPG VQPCRLVTMT SVVKTVYSLQ PPSALSGGQP
110 120 130 140 150
ADTQTRATSK SLLPVRSKEV DVSKQLHSGG PENDVTKITK LRRENGQMKA
160 170 180 190 200
TDTATRRNVR KGYKPLSKQK SEEELKDKNQ LLEAVNKQLH QKLTETQGEL
210 220 230 240 250
KDLTQKVELL EKFRDNCLAI LESKGLDPAL GSETLASRQE STTDHMDSML
260 270 280 290 300
LLETLQEELK LFNETAKKQM EELQALKVKL EMKEERVRFL EQQTLCNNQV
310
NDLTTALKEM EQLLEM
Length:316
Mass (Da):35,438
Last modified:February 6, 2007 - v2
Checksum:i6FC6745DBA6B70D8
GO
Isoform 2 (identifier: Q9Y448-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     275-316: ALKVKLEMKEERVRFLEQQTLCNNQVNDLTTALKEMEQLLEM → IAWMNHGILHQM

Show »
Length:286
Mass (Da):31,880
Checksum:i8EE608F67306D3DC
GO
Isoform 3 (identifier: Q9Y448-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     229-316: ALGSETLASR...LKEMEQLLEM → VAVRNFARGAEAF

Show »
Length:241
Mass (Da):26,586
Checksum:iF55DD94EF9CD69FE
GO

Sequence cautioni

The sequence AAH04543 differs from that shown. Reason: Erroneous termination at position 174. Translated as Glu.Curated
The sequence AAH14060 differs from that shown. Reason: Erroneous termination at position 174. Translated as Glu.Curated
The sequence AAI07803 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti47T → K in AAH45739 (PubMed:15489334).Curated1
Sequence conflicti232S → G in AAI18640 (PubMed:15489334).Curated1
Sequence conflicti236A → S in AAD24201 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07185724S → F in SCC; impaired chromatid cohesion. 1 Publication1
Natural variantiVAR_03030440A → E.1 PublicationCorresponds to variant rs7164132dbSNPEnsembl.1
Natural variantiVAR_03030575R → L.1 PublicationCorresponds to variant rs7169404dbSNPEnsembl.1
Natural variantiVAR_03030692P → S.1 PublicationCorresponds to variant rs7169262dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_041069229 – 316ALGSE…QLLEM → VAVRNFARGAEAF in isoform 3. 1 PublicationAdd BLAST88
Alternative sequenceiVSP_041070275 – 316ALKVK…QLLEM → IAWMNHGILHQM in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY652615 mRNA. Translation: AAT66172.1.
AK301887 mRNA. Translation: BAG63319.1.
AC013356 Genomic DNA. No translation available.
BC004543 mRNA. Translation: AAH04543.1. Different termination.
BC014060 mRNA. Translation: AAH14060.1. Different termination.
BC045739 mRNA. Translation: AAH45739.1.
BC064344 mRNA. Translation: AAH64344.1.
BC107802 mRNA. Translation: AAI07803.1. Different initiation.
BC118559 mRNA. Translation: AAI18560.1.
BC118639 mRNA. Translation: AAI18640.1.
CR602848 mRNA. No translation available.
CR611451 mRNA. No translation available.
U81002 mRNA. Translation: AAD24201.1.
CCDSiCCDS42021.1. [Q9Y448-1]
CCDS45226.1. [Q9Y448-2]
CCDS45227.1. [Q9Y448-3]
RefSeqiNP_001136233.1. NM_001142761.1. [Q9Y448-2]
NP_001136234.1. NM_001142762.1. [Q9Y448-3]
NP_150628.3. NM_033286.3. [Q9Y448-1]
UniGeneiHs.525796.

Genome annotation databases

EnsembliENST00000249776; ENSP00000249776; ENSG00000128944. [Q9Y448-1]
ENST00000416151; ENSP00000391233; ENSG00000128944. [Q9Y448-2]
ENST00000448395; ENSP00000393001; ENSG00000128944. [Q9Y448-3]
GeneIDi90417.
KEGGihsa:90417.
UCSCiuc001zll.4. human. [Q9Y448-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY652615 mRNA. Translation: AAT66172.1.
AK301887 mRNA. Translation: BAG63319.1.
AC013356 Genomic DNA. No translation available.
BC004543 mRNA. Translation: AAH04543.1. Different termination.
BC014060 mRNA. Translation: AAH14060.1. Different termination.
BC045739 mRNA. Translation: AAH45739.1.
BC064344 mRNA. Translation: AAH64344.1.
BC107802 mRNA. Translation: AAI07803.1. Different initiation.
BC118559 mRNA. Translation: AAI18560.1.
BC118639 mRNA. Translation: AAI18640.1.
CR602848 mRNA. No translation available.
CR611451 mRNA. No translation available.
U81002 mRNA. Translation: AAD24201.1.
CCDSiCCDS42021.1. [Q9Y448-1]
CCDS45226.1. [Q9Y448-2]
CCDS45227.1. [Q9Y448-3]
RefSeqiNP_001136233.1. NM_001142761.1. [Q9Y448-2]
NP_001136234.1. NM_001142762.1. [Q9Y448-3]
NP_150628.3. NM_033286.3. [Q9Y448-1]
UniGeneiHs.525796.

3D structure databases

ProteinModelPortaliQ9Y448.
SMRiQ9Y448.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124714. 44 interactors.
DIPiDIP-31247N.
IntActiQ9Y448. 22 interactors.
MINTiMINT-4832111.
STRINGi9606.ENSP00000249776.

PTM databases

iPTMnetiQ9Y448.
PhosphoSitePlusiQ9Y448.

Polymorphism and mutation databases

BioMutaiKNSTRN.
DMDMi125991199.

Proteomic databases

EPDiQ9Y448.
PaxDbiQ9Y448.
PeptideAtlasiQ9Y448.
PRIDEiQ9Y448.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000249776; ENSP00000249776; ENSG00000128944. [Q9Y448-1]
ENST00000416151; ENSP00000391233; ENSG00000128944. [Q9Y448-2]
ENST00000448395; ENSP00000393001; ENSG00000128944. [Q9Y448-3]
GeneIDi90417.
KEGGihsa:90417.
UCSCiuc001zll.4. human. [Q9Y448-1]

Organism-specific databases

CTDi90417.
DisGeNETi90417.
GeneCardsiKNSTRN.
HGNCiHGNC:30767. KNSTRN.
HPAiHPA042027.
MIMi614718. gene.
neXtProtiNX_Q9Y448.
OpenTargetsiENSG00000128944.
PharmGKBiPA134895025.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKUT. Eukaryota.
ENOG4111DW5. LUCA.
GeneTreeiENSGT00390000010376.
HOVERGENiHBG083924.
InParanoidiQ9Y448.
OMAiQESTTDH.
OrthoDBiEOG091G0J0K.
PhylomeDBiQ9Y448.
TreeFamiTF336302.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128944-MONOMER.

Miscellaneous databases

GenomeRNAii90417.
PROiQ9Y448.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128944.
CleanExiHS_C15orf23.
ExpressionAtlasiQ9Y448. baseline and differential.
GenevisibleiQ9Y448. HS.

Family and domain databases

InterProiIPR033373. SKAP.
[Graphical view]
PANTHERiPTHR31940. PTHR31940. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSKAP_HUMAN
AccessioniPrimary (citable) accession number: Q9Y448
Secondary accession number(s): B4DXA7
, Q147U5, Q32Q57, Q5ISJ0, Q6P2S5, Q6PJM0, Q86XB4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: November 2, 2016
This is version 100 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

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