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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 Pilocytic Astrocytoma Of Cerebellum. Among its related pathways are Oncogenic MAPK signaling and HIV Life Cycle. An important paralog of this gene is KIAA1549L.

Additional gene information for KIAA1549 Gene

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

Genomics for KIAA1549 Gene

GeneHancer (GH) Regulatory Elements for KIAA1549 Gene

Promoters and enhancers for KIAA1549 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I138980 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 558.2 +0.0 7 1.8 RB1 ARNT MZF1 ZNF335 GLIS2 SCRT2 ZNF143 SMARCA5 SMARCA4 KLF16 KIAA1549 PIR62108 GC07P138894
GH07I138979 Enhancer 0.5 ENCODE 550.8 +1.3 1293 0.6 CTCF POLR2A ZBTB48 ADNP ZNF600 PRDM4 KIAA1549 PIR62108 GC07P138894
GH07I138958 Enhancer 0.8 FANTOM5 ENCODE 36 +22.5 22520 1.4 GATA3 RFX1 NEUROD1 CEBPB DPF2 FOS RFX5 KIAA1549 ZC3HAV1L SVOPL TRIM24 LUC7L2 UBN2 PIR62108 GC07P138894
GH07I139043 Enhancer 1.4 Ensembl ENCODE dbSUPER 20.4 -63.3 -63254 2.6 HDGF PKNOX1 SMAD1 ATF1 FOXA2 ARNT NCOA2 TCF12 ZNF766 GATA2 KIAA1549 ZC3HAV1L LUC7L2 RPL17P28 ZC3HAV1 GC07P138894
GH07I138889 Enhancer 1.1 Ensembl ENCODE 17.3 +90.5 90482 3.5 PKNOX1 FOXA2 SIN3A DMAP1 FOS RXRA SMARCB1 PPARG SREBF1 ZSCAN16 KIAA1549 ZC3HAV1L GC07P138894 RNU6-1272P GC07M138877
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KIAA1549 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIAA1549 gene promoter:

Genomic Locations for KIAA1549 Gene

Genomic Locations for KIAA1549 Gene
149,938 bases
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:
    Recommended name:
    UPF0606 protein KIAA1549
    Protein Accession:
    Secondary Accessions:
    • B6HY55
    • B6HY56
    • B6HY58
    • B6HY60
    • B6HY61
    • B6HY62
    • B6HY63
    • B6HY64
    • B6HY65
    • B6HY66
    • Q5BJD6
    • Q8IY15
    • Q9H0M3

    Protein attributes for KIAA1549 Gene

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

    Alternative splice isoforms for KIAA1549 Gene


neXtProt entry for KIAA1549 Gene

Post-translational modifications for KIAA1549 Gene

No Post-translational modifications

Other Protein References for KIAA1549 Gene

No data available for DME Specific Peptides for KIAA1549 Gene

Domains & Families for KIAA1549 Gene

Gene Families for KIAA1549 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted membrane proteins

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



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

Function for KIAA1549 Gene

Phenotypes From GWAS Catalog 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

Inhibitory RNA 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIAA1549 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIAA1549 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIAA1549: view

Pathways & Interactions for KIAA1549 Gene

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

Pathways by source for KIAA1549 Gene

Gene Ontology (GO) - Biological Process for KIAA1549 Gene


No data available for 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

Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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: -

Relevant External Links for KIAA1549 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIAA1549 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of KIAA1549 Gene:


SOURCE GeneReport for Unigene cluster for KIAA1549 Gene:


Evidence on tissue expression from TISSUES for KIAA1549 Gene

  • Nervous system(4.9)
  • Intestine(4.3)
  • Kidney(3.4)
genes like me logo Genes that share expression patterns with KIAA1549: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia KIAA1549 33 34
  • 98.88 (n)
(Mus musculus)
Mammalia D630045J12Rik 33 16 34
  • 78.24 (n)
(Rattus norvegicus)
Mammalia RGD1306271 33
  • 78.08 (n)
(Canis familiaris)
Mammalia KIAA1549 33 34
  • 77.01 (n)
(Bos Taurus)
Mammalia KIAA1549 34
  • 76 (a)
(Monodelphis domestica)
Mammalia KIAA1549 34
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia KIAA1549 34
  • 48 (a)
(Gallus gallus)
Aves KIAA1549 33 34
  • 61.69 (n)
(Anolis carolinensis)
Reptilia KIAA1549 34
  • 46 (a)
(Danio rerio)
Actinopterygii si:dkeyp-27e10.3 33 34
  • 57.97 (n)
si:ch211-1e14.1 34
  • 34 (a)
Species where no ortholog for KIAA1549 was found in the sources mined by GeneCards:
  • 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

Gene Tree for KIAA1549 (if available)
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 Variation AA Info Type
rs1000017243 -- 138,879,124(-) G/T intron_variant
rs1000034770 -- 138,868,984(-) T/G intron_variant
rs1000066557 -- 138,879,376(-) G/A intron_variant
rs1000068713 -- 138,840,433(-) A/T intron_variant
rs1000093695 -- 138,924,305(-) T/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv831155 CNV loss 17160897
nsv831154 CNV gain 17160897
nsv5969 CNV deletion 18451855
nsv1140853 CNV deletion 24896259
nsv1125924 CNV tandem duplication 24896259
nsv1119139 CNV deletion 24896259
nsv1076955 CNV deletion 25765185
nsv1030956 CNV gain 25217958
esv3615205 CNV loss 21293372
esv3615200 CNV gain 21293372
esv3388517 CNV duplication 20981092
esv2859569 CNV duplication 24192839
esv2735227 CNV deletion 23290073
esv2735212 CNV deletion 23290073
esv2665390 CNV deletion 23128226
esv2611670 CNV insertion 19546169
esv1717918 CNV insertion 17803354
dgv3955e59 CNV tandem duplication 20981092

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)

Additional Variant Information for KIAA1549 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for KIAA1549 Gene

MalaCards: The human disease database

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

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


  • 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}.

Additional Disease Information for KIAA1549

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. (PMID: 18974108) Jones DT … Collins VP (Cancer research 2008) 3 4 58
  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 research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Analysis of IDH1-R132 mutation, BRAF V600 mutation and KIAA1549-BRAF fusion transcript status in central nervous system tumors supports pediatric tumor classification. (PMID: 26115961) Gierke M … Schittenhelm J (Journal of cancer research and clinical oncology 2016) 3 58

Products for KIAA1549 Gene

Sources for KIAA1549 Gene

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