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

Gene ID: 90417, updated on 6-Sep-2022

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, Apr 2022]
Expression
Broad expression in testis (RPKM 31.0), thyroid (RPKM 17.6) and 23 other tissues See more
Orthologs
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Genomic context

See KNSTRN in Genome Data Viewer
Location:
15q15.1
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40382721..40394288)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38189915..38201483)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40674922..40686489)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903472 Neighboring gene proline, histidine and glycine rich 1 Neighboring gene dispatched RND transporter family member 2 Neighboring gene isovaleryl-CoA dehydrogenase Neighboring gene bromo adjacent homology domain containing 1 Neighboring gene uncharacterized LOC124903473

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14502, MGC141728, MGC141729

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 
Component Evidence Code Pubs
is_active_in centriolar satellite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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

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)

  1. NM_001142761.1NP_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:133211
    GAS; Growth-arrest specific micro-tubule binding
  2. NM_001142762.1NP_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:133224
    GAS; Growth-arrest specific micro-tubule binding
  3. NM_033286.4NP_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
    Q86XB4, Q9Y448
    Related
    ENSP00000249776.8, ENST00000249776.13
    Conserved Domains (1) summary
    COG1196
    Location:167312
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    40382721..40394288
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    38189915..38201483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)