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    KIAA1549 KIAA1549 [ Homo sapiens (human) ]

    Gene ID: 57670, updated on 6-Aug-2017
    Official Symbol
    KIAA1549provided by HGNC
    Official Full Name
    KIAA1549provided by HGNC
    Primary source
    HGNC:HGNC:22219
    See related
    Ensembl:ENSG00000122778 MIM:613344; Vega:OTTHUMG00000157214
    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
    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]
    Orthologs
    Location:
    7q34
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (138831377..138981626, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (138516126..138666064, 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 transmembrane protein 213 Neighboring gene RNA, U6 small nuclear 1272, pseudogene Neighboring gene uncharacterized LOC107986852 Neighboring gene zinc finger CCCH-type containing, antiviral 1 like Neighboring gene zinc finger CCCH-type containing, antiviral 1 Neighboring gene ribosomal protein L17 pseudogene 28

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Oncogenic MAPK signaling, organism-specific biosystem (from REACTOME)
      Oncogenic MAPK signaling, organism-specific biosystemThe importance of the RAS/RAF/MAPK cascade in regulating cellular proliferation, differentiation and survival is highlighted by the fact that components of the pathway are mutated with high frequency...
    • Signaling by BRAF and RAF fusions, organism-specific biosystem (from REACTOME)
      Signaling by BRAF and RAF fusions, organism-specific biosystemIn addition to the more prevalent point mutations, BRAF and RAF1 are also subject to activation as a result of translocation events that yield truncated or fusion products (Jones et al, 2008; Cin et ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ11731, FLJ38703, FLJ40644, KIAA1549

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    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_032965.1 RefSeqGene

      Range
      5001..154939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164665.1NP_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, AM989469
      Consensus CDS
      CCDS56513.1
      UniProtKB/Swiss-Prot
      Q9HCM3
      Related
      ENSP00000416040.1, OTTHUMP00000211809, ENST00000422774.1, OTTHUMT00000348092
      Conserved Domains (1) summary
      pfam12877
      Location:10361702
      DUF3827; Domain of unknown function (DUF3827)
    2. NM_020910.2NP_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, AM989468
      Consensus CDS
      CCDS47723.2
      UniProtKB/Swiss-Prot
      Q9HCM3
      Related
      ENSP00000406661.1, OTTHUMP00000211716, ENST00000440172.5, OTTHUMT00000347938
      Conserved Domains (1) summary
      pfam12877
      Location:10361702
      DUF3827; Domain of unknown function (DUF3827)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      138831377..138981626 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516442.2XP_011514744.1  UPF0606 protein KIAA1549 isoform X1

      Conserved Domains (1) summary
      pfam12877
      Location:10091675
      DUF3827; Domain of unknown function (DUF3827)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      138449918..138599747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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