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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 HIV Life Cycle and Oncogenic MAPK signaling. An important paralog of this gene is KIAA1549L.

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

Regulatory Elements for KIAA1549 Gene

Enhancers for KIAA1549 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G138958 0.9 FANTOM5 ENCODE 36 +22.5 22521 1.4 GATA3 RFX1 CEBPB FOS DPF2 RFX5 KIAA1549 ZC3HAV1L SVOPL TRIM24 LUC7L2 UBN2 PIR62108 GC07P138894
GH07G139043 1.5 Ensembl ENCODE dbSUPER 20.4 -63.3 -63254 2.6 HDGF PKNOX1 FOXA2 ATF1 ARNT TCF12 ZNF766 GATA2 FOS JUNB KIAA1549 ZC3HAV1L RPL17P28
GH07G138960 1.2 FANTOM5 Ensembl ENCODE 17.4 +20.0 19961 0.9 ELF3 CTCF TEAD1 RNF2 NR3C1 RAD21 TEAD3 GLIS1 IKZF1 ZNF341 KIAA1549 ZC3HAV1L SVOPL UBN2 LUC7L2 PIR62108 GC07P138894
GH07G138889 1.2 Ensembl ENCODE 17.3 +90.5 90482 3.5 PKNOX1 FOXA2 SIN3A DMAP1 FOS PPARG SMARCB1 SREBF1 SMARCA4 ZSCAN16 KIAA1549 ZC3HAV1L GC07P138894 GC07M138877 RNU6-1272P
GH07G138934 1.2 Ensembl ENCODE 16.9 +45.9 45878 2.6 TBP INSM2 SIN3A FEZF1 BMI1 RAD21 GATA2 ZNF366 FOS SMARCC1 KIAA1549 ZC3HAV1L GC07P138894 PIR62108
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIAA1549 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA1549 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000218901 118 1601 HDGF FOXA2 PKNOX1 ARNT SIN3A GLIS2 REST NFIL3 CBX8 SMARCA4

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

Post-translational modifications for KIAA1549 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIAA1549 Gene

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

Inhibitory RNA Products

Clone 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
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

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

None

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

KIAA1549:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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: -
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 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:

KIAA1549

SOURCE GeneReport for Unigene cluster for KIAA1549 Gene:

Hs.605380

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
chimpanzee
(Pan troglodytes)
Mammalia KIAA1549 34 35
  • 98.88 (n)
mouse
(Mus musculus)
Mammalia D630045J12Rik 34 16 35
  • 78.24 (n)
rat
(Rattus norvegicus)
Mammalia RGD1306271 34
  • 78.08 (n)
dog
(Canis familiaris)
Mammalia KIAA1549 34 35
  • 77.01 (n)
cow
(Bos Taurus)
Mammalia KIAA1549 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1549 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1549 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1549 34 35
  • 61.69 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA1549 35
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-27e10.3 34 35
  • 57.97 (n)
si:ch211-1e14.1 35
  • 34 (a)
OneToMany
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

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
rs1000017243 -- 138,879,124(+) GAACA(G/T)AACTT intron-variant
rs1000034770 -- 138,868,984(+) AGACA(G/T)ACATG intron-variant
rs1000066557 -- 138,879,376(+) ACCAC(A/G)TTAGA intron-variant
rs1000068713 -- 138,840,433(+) ATCTC(A/T)CCTCA intron-variant
rs1000093695 -- 138,924,305(+) AATGT(G/T)TTCCT intron-variant

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

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

Human Gene Mutation Database (HGMD)
KIAA1549
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA1549

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: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pilocytic astrocytoma
  • grade i astrocytic tumor
pilocytic astrocytoma of cerebellum
  • cerebellar pilocytic astrocytoma
childhood oligodendroglioma
  • pediatric oligodendroglioma
cerebellar astrocytoma
  • astrocytoma of cerebellum
fibrillary astrocytoma
  • diffuse 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 46 64
  2. 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 64
  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 64
  4. Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status. (PMID: 26945035) Roth J.J. … Santi M. (J. Neuropathol. Exp. Neurol. 2016) 3 64
  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. (J. Cancer Res. Clin. Oncol. 2016) 3 64

Products for KIAA1549 Gene

Sources for KIAA1549 Gene

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