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KNL1 kinetochore scaffold 1 [ Homo sapiens (human) ]

Gene ID: 57082, updated on 29-Mar-2023

Summary

Official Symbol
KNL1provided by HGNC
Official Full Name
kinetochore scaffold 1provided by HGNC
Primary source
HGNC:HGNC:24054
See related
Ensembl:ENSG00000137812 MIM:609173; AllianceGenome:HGNC:24054
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
D40; CT29; Spc7; CASC5; MCPH4; hKNL-1; AF15Q14; PPP1R55; hSpc105
Summary
The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]
Expression
Biased expression in testis (RPKM 14.1), bone marrow (RPKM 2.9) and 6 other tissues See more
Orthologs
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Genomic context

See KNL1 in Genome Data Viewer
Location:
15q15.1
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40594249..40664342)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38399974..38470044)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40886447..40956540)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40861831-40862330 Neighboring gene RNA pseudouridine synthase domain containing 2 Neighboring gene tRNA-Ser (anticodon GCT) 4-2 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, 7SL, cytoplasmic 376, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40986424-40987021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40987619-40988216 Neighboring gene RAD51 antisense RNA 1 Neighboring gene RAD51 recombinase

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1570

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in acrosomal vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
located_in kinetochore NAS
Non-traceable Author Statement
more info
PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
kinetochore scaffold 1
Names
ALL1-fused gene from chromosome 15q14 protein
blinkin, bub-linking kinetochore protein
cancer susceptibility candidate 5
cancer susceptibility candidate gene 5 protein
cancer/testis antigen 29
kinetochore null 1 homolog
kinetochore-null protein 1
microcephaly, primary autosomal recessive 4
protein phosphatase 1, regulatory subunit 55

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.

Genomic

  1. NG_033114.1 RefSeqGene

    Range
    5001..75094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_144508.5NP_653091.3  kinetochore scaffold 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB046790, AC022405, AF461041, BC014306
    Consensus CDS
    CCDS42024.1
    UniProtKB/Swiss-Prot
    Q8NG31
    Related
    ENSP00000382576.3, ENST00000399668.7
    Conserved Domains (5) summary
    COG1196
    Location:19162104
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam19221
    Location:857882
    MELT; MELT motif
    cd22817
    Location:20952205
    Knl1_RWD_N; Knl1 RWD (RING finger, WD repeat, DEAD-like helicase) N-terminal domain
    cd22892
    Location:22122310
    Knl1_RWD_C; Knl1 RWD (RING finger, WD repeat, DEAD-like helicase) C-terminal domain
    cd21853
    Location:2075
    KNL1_NTD; N-terminal domain found in kinetochore scaffold 1 (KNL1) and similar proteins
  2. NM_170589.5NP_733468.3  kinetochore scaffold 1 isoform 1

    See identical proteins and their annotated locations for NP_733468.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB046790, AC022405, AF173994, AF461041, BC014306
    Consensus CDS
    CCDS42023.1
    UniProtKB/Swiss-Prot
    Q8NG31, Q9NR92
    Related
    ENSP00000335463.6, ENST00000346991.9
    Conserved Domains (5) summary
    COG1196
    Location:19422130
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam19221
    Location:883908
    MELT; MELT motif
    cd22817
    Location:21212231
    Knl1_RWD_N; Knl1 RWD (RING finger, WD repeat, DEAD-like helicase) N-terminal domain
    cd22892
    Location:22382336
    Knl1_RWD_C; Knl1 RWD (RING finger, WD repeat, DEAD-like helicase) C-terminal domain
    cd21853
    Location:2075
    KNL1_NTD; N-terminal domain found in kinetochore scaffold 1 (KNL1) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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
    40594249..40664342
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    38399974..38470044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378486.1XP_054234461.1  kinetochore scaffold 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_020380.2: Suppressed sequence

    Description
    NM_020380.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.