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] See more...

Aliases for KIAA1549 Gene

Aliases for KIAA1549 Gene

  • KIAA1549 2 3
  • UPF0606 Protein KIAA1549 3 4
  • RP86 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 Retinitis Pigmentosa 86 and Pilomyxoid Astrocytoma. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J138978 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 508.1 +0.6 635 4.2 ZNF217 CTCF ZSCAN5C PHF8 ZFX ZIC2 ZBTB10 ZBTB26 SAP30 EZH2 KIAA1549 piR-39063 ZC3HAV1L RF00017-6673
GH07J138958 Enhancer 0.9 FANTOM5 Ensembl ENCODE 36 +22.4 22369 1.7 POLR2A RFX1 FOS CEBPB NEUROD1 STAT3 DPF2 RFX5 GATA3 KIAA1549 ZC3HAV1L SVOPL TRIM24 LUC7L2 UBN2 piR-39063 RF00017-6673
GH07J138903 Enhancer 0.8 FANTOM5 Ensembl ENCODE 37.1 +78.2 78223 3 PRDM10 MEIS2 MZF1 KIAA1549 RNU6-1272P ZC3HAV1L SVOPL TRIM24 UBN2 LUC7L2 lnc-TMEM213-1 RF00994-1036
GH07J139043 Enhancer 1.3 Ensembl ENCODE dbSUPER 20.4 -62.7 -62683 6 NRF1 ZBTB5 REST ZBTB11 AFF1 TARDBP HES1 ZNF740 NR3C1 TOE1 MIR10399-001 KIAA1549 ZC3HAV1L RPL17P28 ZC3HAV1
GH07J138886 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 17.5 +91.5 91454 7.5 ZNF217 CTCF TCF12 NCOR1 JUND ZIC2 REST CLOCK KLF4 RFX1 KIAA1549 ZC3HAV1L lnc-TMEM213-1 RF00994-1036
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA1549 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA1549

Top Transcription factor binding sites by QIAGEN in the KIAA1549 gene promoter:
  • AP-1
  • Bach2
  • c-Fos
  • c-Jun
  • E47
  • FosB
  • Fra-1
  • Ik-2
  • Tal-1beta
  • ZIC2

Genomic Locations for KIAA1549 Gene

Genomic Locations for KIAA1549 Gene
chr7:138,831,381-138,981,318
(GRCh38/hg38)
Size:
149,938 bases
Orientation:
Minus strand
chr7:138,516,126-138,666,064
(GRCh37/hg19)
Size:
149,939 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
    Miscellaneous:
    • [Isoform 3]: Produced by alternative promoter usage.
    • [Isoform 4]: Produced by alternative promoter usage.
    SequenceCaution:
    • Sequence=AAH38232.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1549 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1549 Gene

Post-translational modifications for KIAA1549 Gene

  • O-glycosylated. O-mannosylated by POMT1 and POMT2 and elongated by POMGNT1.
  • 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

Gene Families for KIAA1549 Gene

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

Protein Domains for KIAA1549 Gene

Blocks:
  • Bacterial regulatory protein, LuxR family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA1549 Gene

GenScript: Design optimal peptide antigens:
  • UPF0606 protein KIAA1549 (K1549_HUMAN)
  • KIAA1549 protein (Q6FII2_HUMAN)

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

Function for KIAA1549 Gene

Phenotypes From GWAS Catalog for KIAA1549 Gene

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

Human Phenotype Ontology for KIAA1549 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIAA1549 Gene

MGI Knock Outs for KIAA1549:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA1549

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 4
cytoskeleton 3
nucleus 3
cytosol 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

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

PathCards logo

SuperPathways 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

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA1549

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

Expression for KIAA1549 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for KIAA1549 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 98.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia D630045J12Rik 17 31 30
  • 78.24 (n)
rat
(Rattus norvegicus)
Mammalia RGD1306271 30
  • 78.08 (n)
dog
(Canis familiaris)
Mammalia KIAA1549 31 30
  • 77.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1549 31
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1549 31
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1549 31
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1549 31 30
  • 61.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1549 31
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-27e10.3 31 30
  • 57.97 (n)
OneToMany
si:ch211-1e14.1 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA1549: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA1549 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
691597 Pathogenic: RETINITIS PIGMENTOSA 86 138,981,217(-) CG/C FRAMESHIFT_VARIANT
691598 Pathogenic: RETINITIS PIGMENTOSA 86 138,869,627(-) G/T MISSENSE_VARIANT
709239 Benign: not provided 138,918,751(-) G/A MISSENSE_VARIANT
709902 Benign: not provided 138,918,968(-) C/G MISSENSE_VARIANT
710599 Benign: not provided 138,917,857(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KIAA1549 Gene

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)

Additional Variant Information 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

(44) MalaCards diseases for KIAA1549 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 86
  • rp86
pilomyxoid astrocytoma
retinitis pigmentosa
  • retinitis pigmentosa 1
childhood pilocytic astrocytoma
  • pediatric pilocytic astrocytoma
pilocytic astrocytoma of cerebellum
  • cerebellar pilocytic 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}.

Additional Disease Information for KIAA1549

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. (PMID: 30120214) de Bruijn SE … Roosing S (Journal of medical genetics 2018) 2 3 54
  2. 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 41 54
  3. 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 54
  4. 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 54
  5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 54

Products for KIAA1549 Gene

Sources for KIAA1549 Gene