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KIAA1549 KIAA1549 [ Homo sapiens (human) ]

Gene ID: 57670, updated on 20-Feb-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

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, OTTHUMP00000211809, ENST00000422774, 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, OTTHUMP00000211716, ENST00000440172, 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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