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Aliases for KIAA1549 Gene

Aliases for KIAA1549 Gene

  • KIAA1549 2 3

External Ids for KIAA1549 Gene

Summaries for KIAA1549 Gene

Entrez Gene Summary for KIAA1549 Gene

  • 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]

GeneCards Summary for KIAA1549 Gene

KIAA1549 (KIAA1549) is a Protein Coding gene. Diseases associated with KIAA1549 include pilocytic astrocytoma and astrocytoma. An important paralog of this gene is KIAA1549L.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1549 Gene

Genomics for KIAA1549 Gene

Genomic Location for KIAA1549 Gene

Start:
138,831,381 bp from pter
End:
138,981,318 bp from pter
Size:
149,938 bases
Orientation:
Minus strand

Genomic View for KIAA1549 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIAA1549 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1549 Gene

Regulatory Elements for KIAA1549 Gene

Proteins for KIAA1549 Gene

  • Protein details for KIAA1549 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCM3-K1549_HUMAN
    Recommended name:
    UPF0606 protein KIAA1549
    Protein Accession:
    Q9HCM3
    Secondary Accessions:
    • B6HY55
    • B6HY56
    • B6HY58
    • B6HY60
    • B6HY61
    • B6HY62
    • B6HY63
    • B6HY64
    • B6HY65
    • B6HY66
    • Q5BJD6
    • Q8IY15
    • Q9H0M3

    Protein attributes for KIAA1549 Gene

    Size:
    1950 amino acids
    Molecular mass:
    210755 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH38232.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1549 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1549 Gene

Proteomics data for KIAA1549 Gene at MOPED

Post-translational modifications for KIAA1549 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIAA1549 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIAA1549 Gene

Domains for KIAA1549 Gene

Protein Domains for KIAA1549 Gene

Suggested Antigen Peptide Sequences for KIAA1549 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HCM3

UniProtKB/Swiss-Prot:

K1549_HUMAN
Family:
  • Belongs to the UPF0606 family.:
    • Q9HCM3
genes like me logo Genes that share domains with KIAA1549: view

No data available for Gene Families for KIAA1549 Gene

Function for KIAA1549 Gene

miRNA for KIAA1549 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIAA1549 Gene

Localization for KIAA1549 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA1549 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA1549 Gene COMPARTMENTS Subcellular localization image for KIAA1549 gene
Compartment Confidence
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KIAA1549 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIAA1549: view

Pathways for KIAA1549 Gene

SuperPathways for KIAA1549 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA1549 Gene

None

No data available for Pathways by source for KIAA1549 Gene

Transcripts for KIAA1549 Gene

mRNA/cDNA for KIAA1549 Gene

Unigene Clusters for KIAA1549 Gene

KIAA1549:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1549 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c
SP1: -
SP2:

Relevant External Links for KIAA1549 Gene

GeneLoc Exon Structure for
KIAA1549
ECgene alternative splicing isoforms for
KIAA1549

Expression for KIAA1549 Gene

mRNA expression in normal human tissues for KIAA1549 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIAA1549 Gene

This gene is overexpressed in Pancreas (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KIAA1549 Gene

SOURCE GeneReport for Unigene cluster for KIAA1549 Gene Hs.605380

genes like me logo Genes that share expressions with KIAA1549: view

No data available for mRNA Expression by UniProt/SwissProt for KIAA1549 Gene

Orthologs for KIAA1549 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIAA1549 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1549 35
  • 98.88 (n)
  • 98.29 (a)
KIAA1549 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1549 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1549 35
  • 77.01 (n)
  • 72.18 (a)
KIAA1549 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia D630045J12Rik 35
  • 78.24 (n)
  • 73.29 (a)
D630045J12Rik 16
D630045J12Rik 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1549 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1549 36
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306271 35
  • 78.08 (n)
  • 72.83 (a)
chicken
(Gallus gallus)
Aves KIAA1549 35
  • 61.69 (n)
  • 55.11 (a)
KIAA1549 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1549 36
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:ch211-1e14.1 36
  • 34 (a)
OneToMany
si:dkeyp-27e10.3 35
  • 57.97 (n)
  • 53.35 (a)
si:dkeyp-27e10.3 36
  • 38 (a)
OneToMany
Species with no ortholog for KIAA1549:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIAA1549 Gene

ENSEMBL:
Gene Tree for KIAA1549 (if available)
TreeFam:
Gene Tree for KIAA1549 (if available)

Paralogs for KIAA1549 Gene

Paralogs for KIAA1549 Gene

genes like me logo Genes that share paralogs with KIAA1549: view

Variants for KIAA1549 Gene

Sequence variations from dbSNP and Humsavar for KIAA1549 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs480690 -- 138,962,597(+) gaggg(A/C)atgtg intron-variant
rs485318 -- 138,956,536(+) AGTGA(A/G)TAAGT intron-variant
rs486220 -- 138,956,621(+) TAAGA(C/T)GTGCC intron-variant
rs501492 -- 138,959,695(+) ATTCA(C/T)AAATC intron-variant
rs506001 -- 138,953,624(+) CAAGT(A/G)AATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA1549 Gene

Variant ID Type Subtype PubMed ID
esv2735212 CNV Deletion 23290073
nsv831154 CNV Gain 17160897
esv2735227 CNV Deletion 23290073
esv2665390 CNV Deletion 23128226
esv2611670 CNV Insertion 19546169
esv259637 OTHER Complex 20981092
esv259833 OTHER Complex 20981092
esv1717918 CNV Insertion 17803354
nsv5969 CNV Loss 18451855
nsv831155 CNV Loss 17160897

Relevant External Links for KIAA1549 Gene

HapMap Linkage Disequilibrium report
KIAA1549
Human Gene Mutation Database (HGMD)
KIAA1549

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1549 Gene

Disorders for KIAA1549 Gene

UniProtKB/Swiss-Prot

K1549_HUMAN
  • Note=A chromosomal aberration involving KIAA1549 is found in pilocytic astrocytoma. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation. {ECO:0000269 PubMed:18974108}.

(2) University of Copenhagen DISEASES for KIAA1549 Gene

Relevant External Links for KIAA1549

Genetic Association Database (GAD)
KIAA1549
Human Genome Epidemiology (HuGE) Navigator
KIAA1549
genes like me logo Genes that share disorders with KIAA1549: view

Publications for KIAA1549 Gene

  1. Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. (PMID: 18974108) Jones D.T.W. … Collins V.P. (Cancer Res. 2008) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  3. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  4. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PMID: 12421765) Nakayama M. … Ohara O. (Genome Res. 2002) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for KIAA1549 Gene

Sources for KIAA1549 Gene

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