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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA1549 Gene

protein-coding GIFtS: 48
GCID: GC07M138516

KIAA1549

Explore 4 diseases affiliated with
KIAA1549 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
KIAA1549¹ ²
UPF0606 Protein KIAA1549²

External Ids:	HGNC: 22219¹	Entrez Gene: 57670²	Ensembl: ENSG00000122778⁷	OMIM: 613344⁵	UniProtKB: Q9HCM3³

Export aliases for KIAA1549 gene to outside databases

Previous GC identifers: GC07M136862 GC07M137922 GC07M137936 GC07M137979 GC07M138172 GC07M138166 GC07M132827

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KIAA1549:

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA1549 gene promoter:
c-Fos AP-1 Bach2 Fra-1 FosB Tal-1beta E47 Ik-2 ZIC2/Zic2 c-Jun
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIAA1549

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1549

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q34 Ensembl cytogenetic band: 7q34 HGNC cytogenetic band: 7q34

KIAA1549 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1549 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M138516: view genomic region (about GC identifiers)

Start:	138,516,126 bp from pter	End:	138,666,064 bp from pter
Size:	149,939 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 137,860,328-137,964,836

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: K1549_HUMAN, Q9HCM3 (See protein sequence)

Recommended Name: UPF0606 protein KIAA1549

Size: 1950 amino acids; 210755 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=AAH38232.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: B6HY55 B6HY56 B6HY58 B6HY60 B6HY61 B6HY62 B6HY63 B6HY64 B6HY65 B6HY66 Q5BJD6

Q8IY15 Q9H0M3

Alternative promoter usage, Alternative splicing: 4 isoforms: Q9HCM3-1 Q9HCM3-2 Q9HCM3-3 Q9HCM3-4 (Produced by alternative promoter usage)

Explore the universe of human proteins at neXtProt for KIAA1549: NX_Q9HCM3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9HCM3

KIAA1549 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001158137.1 NP_065961.2

ENSEMBL proteins:

ENSP00000406661 ENSP00000416040 ENSP00000242365

Human Recombinant Protein Products:

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	Browse Proteins at Uscn

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

KIAA1549 for ontologies About GeneDecksing

KIAA1549 Antibody Products:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KIAA1549 for domains About GeneDecksing

1 InterPro domain/family:

IPR024606 DUF3827

Graphical View of Domain Structure for InterPro Entry Q9HCM3

ProtoNet protein and cluster: Q9HCM3

1 Blocks protein family: IPB000792 Bacterial regulatory protein

UniProtKB/Swiss-Prot: K1549_HUMAN, Q9HCM3

Similarity: Belongs to the UPF0606 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA Products:		OriGene 3'-UTR Clone (see all 2): KIAA1549 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIAA1549
		8/130 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA1549 (see all 130):
		hsa-miR-376b hsa-miR-128 hsa-miR-376a* hsa-miR-520b hsa-miR-186* hsa-miR-587 hsa-let-7e hsa-miR-3927

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1549

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for KIAA1549

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/16 Interacting proteins for KIAA1549 (Q9HCM3^{2, 3} ENSP00000242365⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SOD2	P04179³, ENSP00000337127⁴	I2D: score=3 STRING: ENSP00000337127
MYO5B	Q9ULV0³, ENSP00000285039⁴	I2D: score=2 STRING: ENSP00000285039
GNE	Q9Y223³, ENSP00000379839⁴	I2D: score=1 STRING: ENSP00000379839
CADPS	Q9ULU8³, ENSP00000373215⁴	I2D: score=3 STRING: ENSP00000373215
DST	Q03001³, ENSP00000359790⁴	I2D: score=1 STRING: ENSP00000359790

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KIAA1549
Search CenterWatch for drugs/clinical trials and news about KIAA1549 / K1549

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KIAA1549 gene (2 alternative transcripts):

NM_001164665.1 NM_020910.2

Unigene Cluster for KIAA1549:

KIAA1549

Hs.605380 [show with all ESTs]

Unigene Representative Sequence: NM_001164665

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000440172(uc011kqj.2 uc011kql.2) ENST00000422774 ENST00000242365(uc011kqi.2 uc011kqk.2)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): KIAA1549 Browse OriGene MicroRNA Expression Plasmids
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		8/130 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA1549 (see all 130):
		hsa-miR-376b hsa-miR-128 hsa-miR-376a* hsa-miR-520b hsa-miR-186* hsa-miR-587 hsa-let-7e hsa-miR-3927

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AB046769.2 AK021793.1 AK096022.1 AL136736.1 AM989468.1 AM989469.1 AM989477.1 BC038232.1

BC069036.1 BC091523.1 CR533444.1

7 DOTS entries:

DT.408090 DT.97763435 DT.100743999 DT.304344 DT.40239001 DT.91801736 DT.412400

24/52 AceView cDNA sequences (see all 52):

AA508761 AB046769 BU178367 CF242846 BM558831 AA255487 AI867021 BE856405

BC038232 F10033 BE383416 AL136736 AK097963 BM564901 AW188608 BU740601

BF195765 BF311407 AW206804 BM725745 AA077585 CR533444 CD656171 BM992220

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1549 About this scheme

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:

ECgene alternative splicing isoforms for KIAA1549

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KIAA1549 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTACAATTT

About this image

KIAA1549 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Spinal Neural Tube Cells

Neural Ectoderm

Lung

Tracheal Cartilage

Lung

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KIAA1549 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA1549

SOURCE GeneReport for Unigene cluster: Hs.605380

SABiosciences Custom PCR Arrays for KIAA1549

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for KIAA1549 gene from 4/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	D630045J12Rik^{1 , 5}	RIKEN cDNA D630045J12 gene^{1, 5}	78.35(n)¹ 73.51(a)¹		6 (17.68 cM)⁵ 330286¹ NM_194061.2¹ NP_918950.2¹ 38123174⁵
chicken (Gallus gallus)	Aves	LOC100857885¹	UPF0606 protein KIAA1549-like	61.33(n) 54.78(a)		100857885 XM_003640411.1 XP_003640459.1
lizard (Anolis carolinensis)	Reptilia	KIAA1549⁶	--	54(a)	1 ↔ 1	5(16492623-16563920)
zebrafish (Danio rerio)	Actinopterygii	si:ch211-1e14.1¹	si:ch211-1e14.1	52.68(n) 44.92(a)		556850 XM_679771.3 XP_684863.3

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KIAA1549 gene

KIAA1549L²

KIAA1549 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs112477118^1,2	C,	--	132866637(+)	`TGGCCC/TCCCCA`	2	--	int¹		1		WA	2
rs78932570^1,2	C,	--	132866640(+)	`CCCCCG/CCAAGT`	2	--	int¹		1		WA	2
rs7793186^1,2	C,A,H,	--	132900168(+)	`AAAAAA/GGCTTC`	2	--	int¹ trp³		3		NA WA	240
rs76458524^1,2		--	137859989(+)	`TAGGGC/TGTACA`	2	--	ds500¹		0	--	--	--	--
rs78932034^1,2	C,F,	--	137860417(+)	`ACTTGC/TATAAA`	2	--	ut3¹		1		NA	120
rs77337695^1,2		--	137860778(+)	`CCCTGC/TGTCCC`	2	--	ut3¹		0	--	--	--	--
rs78076806^1,2	C,F,	--	137860817(+)	`AGGGCG/ATTCCC`	2	--	ut3¹		1		WA	118
rs78097435^1,2	C,,	--	137861138(+)	`TATTCC/TTTTTT`	2	--	ut3¹		0	--	--	--	--
rs112970796^1,2	C,	--	137861411(+)	`AAAGCG/ATTGAG`	2	--	ut3¹		2		WA	120
rs113765414^1,2		--	137862435(+)	`TTAGCG/ACCTAC`	2	--	ut3¹		1		CSA	2

HapMap Linkage Disequilibrium report for KIAA1549 (138516126 - 138666064 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KIAA1549
2 CNVs: 100145 4562
Human Gene Mutation Database (HGMD): KIAA1549

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIAA1549

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KIAA1549 for disorders About GeneDecksing

OMIM gene information: 613344 OMIM disorders: --

UniProtKB/Swiss-Prot: K1549_HUMAN, Q9HCM3

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

4 diseases for KIAA1549: About MalaCards

dysembryoplastic neuroepithelial tumor pilomyxoid astrocytoma pilocytic astrocytoma astrocytoma

1 disease from the University of Copenhagen DISEASES database for KIAA1549:

Malignant glioma

Human Genome Epidemiology (HuGE) Navigator: KIAA1549 (1 document)

Export disorders for KIAA1549 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for KIAA1549 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with KIAA1549)

Utopia: connect your pdf to the dynamic
world of online information

Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. (PubMed id 18974108)^{1, 2} Jones D.T....Collins V.P. (2008)
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. (PubMed id 10997877)^{1, 2} Nagase T.... Ohara O. (2000)
Absence of KIAA1549-BRAF fusion in rosette-forming gli oneuronal tumors of the fourth ventricle (RGNT). (PubMed id 22814862)¹ Gessi M....Pietsch T. (2012)
KIAA1549-BRAF fusions and IDH mutations can coexist in diffuse gliomas of adults. (PubMed id 22591444)¹ Badiali M....Giangaspero F. (2012)
BRAF alterations in primary glial and glioneuronal ne oplasms of the central nervous system with identification of 2 novel KIAA1549:B RAF fusion variants. (PubMed id 22157620)¹ Lin A....Bar E.E. (2012)
BRAF-KIAA1549 fusion transcripts are less frequent in pilocytic astrocytomas diagnosed in adults. (PubMed id 21696415)¹ Hasselblatt M....Paulus W. (2011)
The BTB and CNC homology 1 (BACH1) target genes are i nvolved in the oxidative stress response and in control of the cell cycle. (PubMed id 21555518)¹ Warnatz H.J....Yaspo M.L. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)² Olsen J.V....Mann M. (2006)
The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis. (PubMed id 17118363)¹ Weidemann W....Horstkorte R. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 57670	HGNC: 22219	AceView: KIAA1549	Ensembl:ENSG00000122778	euGenes: HUgn57670
ECgene: KIAA1549	H-InvDB: KIAA1549

(According to HUGE)
About This Section

HUGE: KIAA1549

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KIAA1549	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA1549 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for KIAA1549 gene:
Search GeneIP for patents involving KIAA1549

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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