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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA1456 Gene

protein-coding GIFtS: 37
GCID: GC08P012812

KIAA1456

(Previous name: chromosome 8 open reading frame 79 )
(Previous symbol: C8orf79)

Search for KIAA1456
in

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
KIAA1456¹ ²
C8orf79¹ ² ³
FLJ36980¹
Chromosome 8 Open Reading Frame 79¹
Putative Methyltransferase KIAA1456²
EC 2.1.1.-³

External Ids:	HGNC: 26725¹	Entrez Gene: 57604²	Ensembl: ENSG00000255494⁷	UniProtKB: Q8N9K7³	UniProtKB: Q9P272³

Export aliases for KIAA1456 gene to outside databases

Previous GC identifers: GC08P012644 GC08P012830 GC08U900355 GC08P012914 GC08P012806 GC08P012809 GC08P012810 GC08P012811

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

(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_000008.10 NC_018919.1 NT_167187.1

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for KIAA1456
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIAA1456

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1456

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

Entrez Gene cytogenetic band: 8p22 Ensembl cytogenetic band: 8p23.1 HGNC cytogenetic band: 8p22

KIAA1456 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1456 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P012812: view genomic region (about GC identifiers)

Start:	12,803,183 bp from pter	End:	12,887,286 bp from pter
Size:	84,104 bases	Orientation:	plus strand

1 alternative location:

Chr8+ 12,651,752-12,675,800

(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: CH079_HUMAN, Q8N9K7 (See protein sequence)

Recommended Name: Uncharacterized protein KIAA1456

Size: 121 amino acids; 13671 Da

Alternative splicing: 2 isoforms: Q8N9K7-1 Q9P272-1 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

UniProtKB/Swiss-Prot: K1456_HUMAN, Q9P272 (See protein sequence)

Recommended Name: Putative methyltransferase KIAA1456

Size: 454 amino acids; 51299 Da

Sequence caution: Sequence=BAA95980.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=BAA95980.1; Type=Miscellaneous discrepancy; Note=Intron retention;

Secondary accessions: Q96AW6

Alternative splicing: 2 isoforms: Q9P272-1 Q8N9K7-1 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for KIAA1456: NX_Q9P272

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9P272

KIAA1456 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins (2 alternative transcripts):

NP_001093147.1 NP_065895.2

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

KIAA1456 for domains About GeneDecksing

1 InterPro domain/family:

IPR013216 Methyltransf_11

Graphical View of Domain Structure for InterPro Entry Q8N9K7

Graphical View of Domain Structure for InterPro Entry Q9P272

ProtoNet protein and cluster: Q8N9K7

UniProtKB/Swiss-Prot: K1456_HUMAN, Q9P272

Similarity: Belongs to the methyltransferase superfamily

(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

Enzyme Number (IUBMB): EC 2.1.1.-¹

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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008168	methyltransferase activity	IEA	--

KIAA1456 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for KIAA1456:

Cell cycle / mitosis defect

(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 KIAA1456

5/29 Interacting proteins for KIAA1456 (Q9P272³) via UniProtKB, MINT, STRING, and/or I2D (see all 29)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
N6AMT1	Q9Y5N5³	I2D: score=2
CDC34	P49427³	I2D: score=1
CHD2	O14647³	I2D: score=1
CNBP	P62633³	I2D: score=1
CSE1L	P55060³	I2D: score=1

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 KIAA1456
Search CenterWatch for drugs/clinical trials and news about KIAA1456 / K1456

(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,
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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 KIAA1456 gene (2 alternative transcripts):

NM_001099677.1 NM_020844.2

Unigene Cluster for KIAA1456:

KIAA1456

Hs.202521 [show with all ESTs]

Unigene Representative Sequence: NM_020844

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000530150(lincRNA)

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Additional cDNA sequence:

AB040889.1 AK094299.1 AK125638.1 AK296010.1 AK307825.1 BC016633.2 BC035082.1

13 DOTS entries:

DT.75129872 DT.438114 DT.100660181 DT.208817 DT.70104581 DT.95358204 DT.100745157 DT.91981316

DT.95319619 DT.95358205 DT.121484770 DT.95358203 DT.97763962

24/43 AceView cDNA sequences (see all 43):

BM352582 CA842918 AA331435 BQ416698 CR613040 BC016633 BX953968 AL543405

AW593237 AK125638 BF446685 BM352887 BE671512 CD105134 NM_020844 BX954995

BG656154 BX100401 AB040889 AW439543 BF510207 BE326300 BM681985 BI914169

GeneLoc Exon Structure

(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

KIAA1456 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCACCACTCC

About this image

KIAA1456 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

nGnG Amacrine Cells

Amacrine, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Cartilage-like cells (Differentiation of s...)

Cartilage

Genevestigator expression for KIAA1456

SOURCE GeneReport for Unigene cluster: Hs.202521

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In Situ
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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 KIAA1456 gene from 3/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	6430573F11Rik^{1 , 5}	RIKEN cDNA 6430573F11 gene^{1, 5}	79.34(n)¹ 74.72(a)¹	8 (23.05 cM)⁵ 319582¹ NM_176952.4¹ NP_795926.2¹ 36457548⁵
chicken (Gallus gallus)	Aves	KIAA1456¹	KIAA1456	66.52(n) 61.12(a)	422741 XM_420694.3 XP_420694.2
zebrafish (Danio rerio)	Actinopterygii	zgc:73340¹	zgc:73340	52.5(n) 46.56(a)	326652 NM_199743.1 NP_956037.1

ENSEMBL Gene Tree for KIAA1456 (if available)
TreeFam Gene Tree for KIAA1456 (if available)

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

(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 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs150719204^1,2		--	12801186(+)	`TCGAAC/TAAAAT`	1	--	us2k¹		0	--	--	--	--
rs73544646^1,2	C,F,	--	12801202(+)	`TATGGC/AACAGC`	1	--	us2k¹		3		WA CSA	122
rs75183643^1,2		--	12801298(+)	`CAAAAC/TTTGTA`	1	--	us2k¹		0	--	--	--	--
rs145144269^1,2		--	12801367(+)	`TTCACC/TCTTTG`	1	--	us2k¹		0	--	--	--	--
rs74302451^1,2	C,F,	--	12801409(+)	`ACGAGC/TACAGG`	1	--	us2k¹		2		WA NA	238
rs148528036^1,2		--	12801438(+)	`TAATG-/CACACAC`	1	--	us2k¹		0	--	--	--	--
rs147585415^1,2		--	12801607(+)	`ATACAA/GTAGGT`	1	--	us2k¹		0	--	--	--	--
rs62487535^1,2	C,F,	--	12801650(+)	`TTTACG/AGTGAG`	1	--	us2k¹		10		NA WA CSA EA	372
rs12681852^1,2	C,F,H,	--	12801693(+)	`AACAAT/CTGGAC`	1	--	us2k¹		7		NS EA WA NA	506
rs140538016^1,2		--	12801707(+)	`CTCGTA/GCTTTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIAA1456 (12803183 - 12887286 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KIAA1456: --

SABiosciences Cancer Mutation PCR Assays

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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

(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 KIAA1456 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KIAA1456)

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

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)^{1, 2} Nagase T.... Ohara O. (2000)
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. (PubMed id 17903295)¹ Lunetta K.L....Murabito J.M. (2007)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)² Nusbaum C....Lander E.S. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(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: 57604	HGNC: 26725	AceView: KIAA1456	Ensembl:ENSG00000255494	euGenes: HUgn57604
ECgene: KIAA1456	H-InvDB: KIAA1456

(According to HUGE)
About This Section

HUGE: KIAA1456

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KIAA1456	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA1456 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIAA1456 gene:
Search GeneIP for patents involving KIAA1456

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
About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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KIAA1456 Gene

KIAA1456

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KIAA1456 Gene

KIAA1456

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