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Knl1 kinetochore scaffold 1 [ Mus musculus (house mouse) ]

Gene ID: 76464, updated on 5-Mar-2024

Summary

Official Symbol
Knl1provided by MGI
Official Full Name
kinetochore scaffold 1provided by MGI
Primary source
MGI:MGI:1923714
See related
Ensembl:ENSMUSG00000027326 AllianceGenome:MGI:1923714
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Casc5; 2310043D08Rik; 5730505K17Rik
Summary
Predicted to be involved in attachment of spindle microtubules to kinetochore and protein localization to kinetochore. Predicted to act upstream of or within cell division and chromosome segregation. Predicted to be located in acrosomal vesicle; kinetochore; and nuclear body. Predicted to be active in nucleus. Is expressed in telencephalon ventricular layer. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly and primary autosomal recessive microcephaly 4. Orthologous to human KNL1 (kinetochore scaffold 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in liver E14 (RPKM 4.5), CNS E11.5 (RPKM 3.4) and 10 other tissues See more
Orthologs
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Genomic context

See Knl1 in Genome Data Viewer
Location:
2 E5; 2 59.85 cM
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (118877600..118940978)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (119047119..119110497)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1595 Neighboring gene RNA pseudouridylate synthase domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E1596 Neighboring gene nuclear encoded tRNA serine 7 (anticodon GCT) Neighboring gene RAD51 recombinase Neighboring gene regulator of microtubule dynamics 3 Neighboring gene STARR-positive B cell enhancer ABC_E7851

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Transgenic (1) 
  • Targeted (3)  1 citation
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (5)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC91208

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Component Evidence Code Pubs
part_of Knl1/Spc105 complex ISO
Inferred from Sequence Orthology
more info
 
located_in acrosomal vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
located_in chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
located_in kinetochore ISO
Inferred from Sequence Orthology
more info
 
located_in kinetochore NAS
Non-traceable Author Statement
more info
PubMed 
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
kinetochore scaffold 1
Names
cancer susceptibility candidate 5
kinetochore-null protein 1
protein CASC5

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_001362732.1NP_001349661.1  kinetochore scaffold 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK009772, AL772264, BC080815
    Consensus CDS
    CCDS89540.1
    UniProtKB/Swiss-Prot
    A3KGI4, Q66JQ7, Q8CCH6, Q9CV38
    Related
    ENSMUSP00000028799.6, ENSMUST00000028799.12
  2. NM_029617.3NP_083893.2  kinetochore scaffold 1 isoform 1

    See identical proteins and their annotated locations for NP_083893.2

    Status: VALIDATED

    Source sequence(s)
    AL772264
    Consensus CDS
    CCDS38203.1
    UniProtKB/TrEMBL
    A3KGI3
    Related
    ENSMUSP00000097140.3, ENSMUST00000099542.9
    Conserved Domains (2) summary
    COG1196
    Location:17241912
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam18210
    Location:20212118
    Knl1_RWD_C; Knl1 RWD C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    118877600..118940978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006500376.4XP_006500439.1  kinetochore scaffold 1 isoform X1

    See identical proteins and their annotated locations for XP_006500439.1

    UniProtKB/TrEMBL
    A3KGI3
    Conserved Domains (2) summary
    COG1196
    Location:17241912
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam18210
    Location:20212118
    Knl1_RWD_C; Knl1 RWD C-terminal domain
  2. XM_006500377.5XP_006500440.1  kinetochore scaffold 1 isoform X1

    See identical proteins and their annotated locations for XP_006500440.1

    UniProtKB/TrEMBL
    A3KGI3
    Related
    ENSMUSP00000028802.3, ENSMUST00000028802.3
    Conserved Domains (2) summary
    COG1196
    Location:17241912
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam18210
    Location:20212118
    Knl1_RWD_C; Knl1 RWD C-terminal domain