KNSTRN kinetochore localized astrin (SPAG5) binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: KNSTRNprovided by HGNC
Official Full Name: kinetochore localized astrin (SPAG5) binding proteinprovided by HGNC
Primary source: HGNC:HGNC:30767
See related: Ensembl:ENSG00000128944 MIM:614718; AllianceGenome:HGNC:30767
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SKAP; HSD11; ROCHIS; C15orf23; TRAF4AF1
Summary: Enables microtubule plus-end binding activity and protein homodimerization activity. Involved in several processes, including cellular response to epidermal growth factor stimulus; mitotic sister chromatid segregation; and regulation of attachment of spindle microtubules to kinetochore. Located in several cellular components, including kinetochore; microtubule cytoskeleton; and ruffle. Implicated in actinic keratosis and skin squamous cell carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 31.0), thyroid (RPKM 17.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (40382721..40394288)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (38189915..38201483)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (40674922..40686489)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SKAP interacts with Aurora B to guide end-on capture of spindle microtubules via phase separation.
Title: SKAP interacts with Aurora B to guide end-on capture of spindle microtubules via phase separation.
Phosphorylation of small kinetochore-associated protein induced by GSK3beta promotes cell migration and invasion in esophageal cancer.
Title: Phosphorylation of small kinetochore-associated protein induced by GSK3β promotes cell migration and invasion in esophageal cancer.
Src-mediated tyrosine phosphorylation of PRC1 and kinastrin/SKAP on the mitotic spindle.
Title: Src-mediated tyrosine phosphorylation of PRC1 and kinastrin/SKAP on the mitotic spindle.
KNSTRN promotes tumorigenesis and gemcitabine resistance by activating AKT in bladder cancer.
Title: KNSTRN promotes tumorigenesis and gemcitabine resistance by activating AKT in bladder cancer.
Recurrent somatic mutation p.Ala40Glu in KNSTRN gene is associated with basal proliferating actinic keratosis in accordance with invasive squamous cell cardinomas. This supports the impact of basal proliferative pattern in terms of progression
Title: Somatic mutations in kinetochore gene KNSTRN are associated with basal proliferating actinic keratoses and cutaneous squamous cell carcinoma.
The authors show that the Astrin-SKAP complex binds synergistically to microtubules with the Ndc80 complex to form an integrated interface.
Title: Astrin-SKAP complex reconstitution reveals its kinetochore interaction with microtubule-bound Ndc80.
GSK3beta-SKAP-Kif2b signaling axis constitutes a dynamic link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division.
Title: Phosphorylation of SKAP by GSK3β ensures chromosome segregation by a temporal inhibition of Kif2b activity.
Data show that aurora-B regulates end-on conversion in human cells and indicate a late role for SPAG5 protein (Astrin)-SKAP complex in the end-on conversion process.
Title: Aurora-B kinase pathway controls the lateral to end-on conversion of kinetochore-microtubule attachments in human cells.
KNSTRN Mutation, a Cutaneous Squamous Carcinoma-Specific Mutation is associated with Solid Tumors and Leukemias.
Title: Absence of KNSTRN Mutation, a Cutaneous Squamous Carcinoma-Specific Mutation, in Other Solid Tumors and Leukemias.
Molecular requirements for the inter-subunit interaction and kinetochore recruitment of SKAP and Astrin have been reported.
Title: Molecular requirements for the inter-subunit interaction and kinetochore recruitment of SKAP and Astrin.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined immunodeficiency with faciooculoskeletal anomalies MedGen: C2750068 OMIM: 613328 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44711 (e-PCR)
- UniSTS:77786

NoName (e-PCR)
- UniSTS:487148

A008N27 (e-PCR)
- UniSTS:20466

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule plus-end binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to epidermal growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic sister chromatid segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic sister chromatid segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of attachment of spindle microtubules to kinetochore	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of attachment of spindle microtubules to kinetochore	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spindle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in spindle organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in kinetochore	IBA Inferred from Biological aspect of Ancestor more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
is_active_in microtubule plus-end	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule plus-end	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitotic spindle	IBA Inferred from Biological aspect of Ancestor more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed
located_in spindle pole	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: small kinetochore-associated protein

Names: TRAF4 associated factor 1; kinastrin; kinetochore-localized astrin-binding protein; putative TRAF4-associated factor 1; small kinetochore associated protein; small kinetochore-associated protein, kinetochore-localized astrin-binding protein, TRAF4 associated factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001142761.1 → NP_001136233.1 small kinetochore-associated protein isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. The encoded isoform (b) has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AC013356, AW156972, DC396708

Consensus CDS

CCDS45226.1

UniProtKB/Swiss-Prot

Q9Y448

Related

ENSP00000391233.2, ENST00000416151.6

Conserved Domains (1) summary

pfam13851
Location:133 → 211

GAS; Growth-arrest specific micro-tubule binding
NM_001142762.1 → NP_001136234.1 small kinetochore-associated protein isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AC013356, AW156972, DC396708

Consensus CDS

CCDS45227.1

UniProtKB/Swiss-Prot

Q9Y448

Related

ENSP00000393001.2, ENST00000448395.6

Conserved Domains (1) summary

pfam13851
Location:133 → 224

GAS; Growth-arrest specific micro-tubule binding
NM_033286.4 → NP_150628.3 small kinetochore-associated protein isoform a

See identical proteins and their annotated locations for NP_150628.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC013356

Consensus CDS

CCDS42021.1

UniProtKB/Swiss-Prot

B4DXA7, Q147U5, Q32Q57, Q5ISJ0, Q6P2S5, Q6PJM0, Q86XB4, Q9Y448

Related

ENSP00000249776.8, ENST00000249776.13

Conserved Domains (1) summary

COG1196
Location:167 → 312

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]