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    KIF26A kinesin family member 26A [ Homo sapiens (human) ]

    Gene ID: 26153, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KIF26Aprovided by HGNC
    Official Full Name
    kinesin family member 26Aprovided by HGNC
    Primary source
    HGNC:HGNC:20226
    See related
    Ensembl:ENSG00000066735 MIM:613231; AllianceGenome:HGNC:20226
    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
    CDCBM11
    Summary
    Predicted to enable microtubule binding activity. Involved in cerebral cortex development; regulation of neuron migration; and regulation of neuron projection development. Predicted to be located in cytosol. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in fat (RPKM 3.9), spleen (RPKM 2.2) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIF26A in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104138587..104180894)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (98375914..98418495)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104604924..104647231)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene asparaginase Neighboring gene microRNA 203a Neighboring gene microRNA 203b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104600835-104601334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104601943-104602516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104602803-104603514 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104603515-104604226 Neighboring gene KIF26A divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104614982-104615497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104617559-104618072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104620618-104621118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104621119-104621619 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104635187-104635899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104638041-104638754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104645533-104646067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104655181-104656014 Neighboring gene uncharacterized LOC124903393 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104688883-104689775 Neighboring gene long intergenic non-protein coding RNA 2691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104703975-104704476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104705328-104706173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104706174-104707018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104736421-104737106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104737107-104737791 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:104745688-104745903

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon. Almannai M, et al. Hum Genet, 2023 Mar. PMID 36564622
    2. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Qian X, et al. Dev Cell, 2022 Oct 24. PMID 36228617, Free PMC Article
    3. KIF26A is an unconventional kinesin and regulates GDNF-Ret signaling in enteric neuronal development. Zhou R, et al. Cell, 2009 Nov 13. PMID 19914172
    4. All kinesin superfamily protein, KIF, genes in mouse and human. Miki H, et al. Proc Natl Acad Sci U S A, 2001 Jun 19. PMID 11416179, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
      Title: KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
    2. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
      Title: Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
    Submit: New GeneRIF Correction

    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
    Cortical dysplasia, complex, with other brain malformations 11
    MedGen: C5774270 OMIM: 620156 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22753, KIAA1236, DKFZp434N178

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables ATP hydrolysis activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT enables microtubule motor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in enteric nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in microtubule-based movement ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell growth by extracellular stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    kinesin-like protein KIF26A
    Names
    KIF26A variant protein

    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_015656.2 → NP_056471.1  kinesin-like protein KIF26A

      See identical proteins and their annotated locations for NP_056471.1

      Status: VALIDATED

      Source sequence(s)
      AL359399
      Consensus CDS
      CCDS45171.1
      UniProtKB/Swiss-Prot
      Q8TAZ7, Q96GK3, Q9UFL3, Q9ULI4
      UniProtKB/TrEMBL
      B0I1R4
      Related
      ENSP00000388241.2, ENST00000423312.7
      Conserved Domains (4) summary
      smart00129
      Location:372 → 731
      KISc; Kinesin motor, catalytic domain. ATPase
      COG3416
      Location:1552 → 1673
      COG3416; Uncharacterized protein [Function unknown]
      PRK07764
      Location:844 → 1285
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd00106
      Location:371 → 723
      KISc; Kinesin motor domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      104138587..104180894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536641.3 → XP_011534943.1  kinesin-like protein KIF26A isoform X1

      UniProtKB/TrEMBL
      C9JFF0
      Conserved Domains (4) summary
      smart00129
      Location:63 → 422
      KISc; Kinesin motor, catalytic domain. ATPase
      COG3416
      Location:1243 → 1364
      COG3416; Uncharacterized protein [Function unknown]
      PRK07764
      Location:535 → 969
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cd00106
      Location:62 → 414
      KISc; Kinesin motor domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      98375914..98418495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375846.1 → XP_054231821.1  kinesin-like protein KIF26A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULI4.3 GenPept UniProtKB/Swiss-Prot:Q9ULI4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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