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    KIAA1549 KIAA1549 [ Homo sapiens (human) ]

    Gene ID: 57670, updated on 5-May-2024

    Summary

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    Official Symbol
    KIAA1549provided by HGNC
    Official Full Name
    KIAA1549provided by HGNC
    Primary source
    HGNC:HGNC:22219
    See related
    Ensembl:ENSG00000122778 MIM:613344; AllianceGenome:HGNC:22219
    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
    RP86
    Summary
    The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
    Expression
    Broad expression in brain (RPKM 3.0), kidney (RPKM 2.6) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q34
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (138831381..138981389, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (140144273..140294292, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (138516126..138666135, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2 Neighboring gene ATPase H+ transporting V0 subunit a4 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:138429227-138429398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:138434906-138435708 Neighboring gene MPRA-validated peak6777 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:138458197-138458700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:138458701-138459203 Neighboring gene Sharpr-MPRA regulatory region 1249 Neighboring gene transmembrane protein 213 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:138506625-138507179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:138515129-138515628 Neighboring gene Sharpr-MPRA regulatory region 5807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26744 Neighboring gene RNA, U6 small nuclear 1272, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:138601214-138601736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:138601737-138602257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:138609273-138609791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:138627684-138628464 Neighboring gene NANOG hESC enhancer GRCh37_chr7:138629820-138630361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:138658812-138659312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:138659313-138659813 Neighboring gene Sharpr-MPRA regulatory region 8027 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:138665054-138665940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26745 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:138720195-138721114 Neighboring gene uncharacterized LOC107986852 Neighboring gene zinc finger CCCH-type containing, antiviral 1 like

    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
    • 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. BRAF alterations in brain tumours: molecular pathology and therapeutic opportunities. Berghoff AS, et al. Curr Opin Neurol, 2014 Dec. PMID 25268071
    2. BRAF alterations in primary glial and glioneuronal neoplasms of the central nervous system with identification of 2 novel KIAA1549:BRAF fusion variants. Lin A, et al. J Neuropathol Exp Neurol, 2012 Jan. PMID 22157620, Free PMC Article
    3. Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors. Uribe ML, et al. J Proteome Res, 2021 Jun 4. PMID 34027671, Free PMC Article
    4. KIAA1549-BRAF Expression Establishes a Permissive Tumor Microenvironment Through NFκB-Mediated CCL2 Production. Chen R, et al. Neoplasia, 2019 Jan. PMID 30504064, Free PMC Article
    5. Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status. Roth JJ, et al. J Neuropathol Exp Neurol, 2016 Apr. PMID 26945035, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIAA1549 promotes the development and chemoresistance of colorectal cancer by upregulating ERCC2.
      Title: KIAA1549 promotes the development and chemoresistance of colorectal cancer by upregulating ERCC2.
    2. Concomitant KIAA1549-BRAF fusion and IDH mutation in Pediatric spinal cord astrocytoma: a case report and literature review.
      Title: Concomitant KIAA1549-BRAF fusion and IDH mutation in Pediatric spinal cord astrocytoma: a case report and literature review.
    3. these results demonstrate that f-BRAF expression creates a supportive tumor microenvironment through NFkappaB-mediated Ccl2 production and microglia recruitment.
      Title: KIAA1549-BRAF Expression Establishes a Permissive Tumor Microenvironment Through NFκB-Mediated CCL2 Production.
    4. This study demonstrated that when whole chromosome 7 gain accompanies the KIAA1549-BRAF fusion, the fusion likely arises first.
      Title: Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status.
    5. Mutations in BRAF-KIAA1549 were associated with central nervous system tumors.
      Title: Analysis of IDH1-R132 mutation, BRAF V600 mutation and KIAA1549-BRAF fusion transcript status in central nervous system tumors supports pediatric tumor classification.
    6. This study confirmed the high frequency of KIAA1549:BRAF fusion in Pilocytic Astrocytomas.
      Title: KIAA1549: BRAF Gene Fusion and FGFR1 Hotspot Mutations Are Prognostic Factors in Pilocytic Astrocytomas.
    7. Pediatric oligodendrogliomas (pODGs) can harbor the KIAA1549-BRAF fusion with aberrant MAPK/ERK signaling, and there exists an option of targeting these pathways in such patients.
      Title: Oncogenic KIAA1549-BRAF fusion with activation of the MAPK/ERK pathway in pediatric oligodendrogliomas.
    8. we identify KIAA1549-BRAF gene fusions in 45 % of 82 low-grade glioma samples
      Title: Analysis of KIAA1549-BRAF fusion gene expression and IDH1/IDH2 mutations in low grade pediatric astrocytomas.
    9. Molecular genetic analysis revealed BRAF duplication and a KIAA1549-BRAF fusion gene in 82% of group II tumors, but in none of the group I tumors, and a BRAF:p.V600E mutation in 43% of group I tumors, but in none of the group II tumors.
      Title: Posterior fossa and spinal gangliogliomas form two distinct clinicopathologic and molecular subgroups.
    10. Our results suggest that in a small fraction of diffuse gliomas, KIAA1549-BRAF fusion gene and BRAF(v600E) mutation may be responsible for deregulation of the Ras-RAF-ERK signaling pathway
      Title: KIAA1549-BRAF fusions and IDH mutations can coexist in diffuse gliomas of adults.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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
    Retinitis pigmentosa 86
    MedGen: C5231428 OMIM: 618613 GeneReviews: Not available
    		Compare labs

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11731, FLJ38703, FLJ40644, KIAA1549

    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 photoreceptor connecting cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    UPF0606 protein KIAA1549

    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_032965.2 RefSeqGene

      Range
      4930..154938
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164665.2 → NP_001158137.1  UPF0606 protein KIAA1549 isoform 2

      See identical proteins and their annotated locations for NP_001158137.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), also known as the long-form, v2, represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AC018663, AC083868, AM989469
      Consensus CDS
      CCDS56513.1
      UniProtKB/Swiss-Prot
      B6HY55, B6HY56, B6HY58, B6HY60, Q5BJD6, Q8IY15, Q9H0M3, Q9HCM3
      Related
      ENSP00000416040.2, ENST00000422774.2
      Conserved Domains (1) summary
      pfam12877
      Location:1036 → 1702
      DUF3827; Domain of unknown function (DUF3827)

    2. NM_020910.3 → NP_065961.2  UPF0606 protein KIAA1549 isoform 1

      See identical proteins and their annotated locations for NP_065961.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), also known as the long-form, v1, uses an alternate in-frame splice site in the 3' coding region, compared to variant 2. The resulting isoform (1) lacks an internal segment near the C-terminus, compared to isoform 2.
      Source sequence(s)
      AC018663, AC083868, AM989468
      Consensus CDS
      CCDS47723.2
      UniProtKB/Swiss-Prot
      Q9HCM3
      Related
      ENSP00000406661.1, ENST00000440172.5
      Conserved Domains (1) summary
      pfam12877
      Location:1036 → 1702
      DUF3827; Domain of unknown function (DUF3827)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      138831381..138981389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      140144273..140294292 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCM3.4 GenPept UniProtKB/Swiss-Prot:Q9HCM3

    Gene LinkOut

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

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