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Aliases for KIAA1549 Gene

Aliases for KIAA1549 Gene

  • KIAA1549 2 3

External Ids for KIAA1549 Gene

Previous GeneCards Identifiers for KIAA1549 Gene

  • GC07M136862
  • GC07M137922
  • GC07M137936
  • GC07M137979
  • GC07M138172
  • GC07M138166
  • GC07M138516
  • GC07M132827

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

Regulatory Elements for KIAA1549 Gene

Promoters for KIAA1549 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIAA1549 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIAA1549 Gene

Chromosome:
7
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

Genes around KIAA1549 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1549 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1549 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families 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 :
  • Belongs to the UPF0606 family.
Family:
  • Belongs to the UPF0606 family.
genes like me logo Genes that share domains with KIAA1549: view

No data available for Gene Families for KIAA1549 Gene

Function for KIAA1549 Gene

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

Animal Models for KIAA1549 Gene

MGI Knock Outs for KIAA1549:

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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
nucleus 3
cytoskeleton 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for KIAA1549 Gene

Pathways & Interactions 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 and SIGNOR curated interactions for KIAA1549 Gene

Drugs & Compounds for KIAA1549 Gene

No Compound Related Data Available

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 (x4.8).

Protein differential expression in normal tissues from HIPED for KIAA1549 Gene

This gene is overexpressed in Liver (34.4) and Liver, secretome (24.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KIAA1549: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 36
  • 72 (a)
OneToOne
KIAA1549 35
  • 77.01 (n)
  • 72.18 (a)
mouse
(Mus musculus)
Mammalia D630045J12Rik 16
D630045J12Rik 35
  • 78.24 (n)
  • 73.29 (a)
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 36
  • 38 (a)
OneToMany
si:dkeyp-27e10.3 35
  • 57.97 (n)
  • 53.35 (a)
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
rs2718131 - 138,918,170(+) GGAGG(C/G)GAAAA reference, missense
rs2354336 - 138,916,960(+) CAGCA(A/C)CGGTG reference, missense
rs2774960 - 138,917,671(+) CACTC(A/G)GCATC reference, missense
rs580342 -- 138,958,587(+) CTTAC(A/G)TCCCA intron-variant
rs486220 -- 138,956,621(+) TAAGA(C/T)GTGCC 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

Variation tolerance for KIAA1549 Gene

Residual Variation Intolerance Score: 98.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.56; 99.12% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(10) MalaCards diseases for KIAA1549 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pilocytic astrocytoma
  • grade i astrocytic tumor
astrocytoma
  • astrocytic tumor
childhood oligodendroglioma
  • pediatric oligodendroglioma
cerebellar astrocytoma
  • astrocytoma of cerebellum
pilomyxoid astrocytoma
- elite association - COSMIC cancer census association via MalaCards

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}.

Relevant External Links for KIAA1549

Genetic Association Database (GAD)
KIAA1549
Human Genome Epidemiology (HuGE) Navigator
KIAA1549
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA1549
genes like me logo Genes that share disorders with KIAA1549: view

No data available for Genatlas for KIAA1549 Gene

Publications for KIAA1549 Gene

  1. 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. KIAA1549: BRAF Gene Fusion and FGFR1 Hotspot Mutations Are Prognostic Factors in Pilocytic Astrocytomas. (PMID: 26083571) Becker A.P. … Reis R.M. (J. Neuropathol. Exp. Neurol. 2015) 3
  4. Oncogenic KIAA1549-BRAF fusion with activation of the MAPK/ERK pathway in pediatric oligodendrogliomas. (PMID: 25794445) Kumar A. … Sarkar C. (Cancer Genet 2015) 3
  5. Characterization of LGALS3 (galectin-3) as a player in DNA damage response. (PMID: 24755837) Carvalho R.S. … Carvalho M.A. (Cancer Biol. Ther. 2014) 3

Products for KIAA1549 Gene

Sources for KIAA1549 Gene

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