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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NYAP1 Gene

protein-coding GIFtS: 38
GCID: GC07P100082

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase...

(Previous names: chromosome 7 open reading frame 51, KIAA1486-like )
(Previous symbols: C7orf51, KIAA1486L)

Explore 1 disease affiliated with
NYAP1 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
Neuronal Tyrosine-Phosphorylated Phosphoinositide-3-Kinase Adaptor 1¹ ²		KIAA1486L¹
C7orf51¹ ² ³		Chromosome 7 Open Reading Frame 51¹
FLJ37538¹		Neuronal Tyrosine-Phosphorylated Phosphoinositide-3-Kinase Adapter 1²
KIAA1486-Like¹

External Ids:	HGNC: 22009¹	Entrez Gene: 222950²	Ensembl: ENSG00000166924⁷	UniProtKB: Q6ZVC0³

Export aliases for NYAP1 gene to outside databases

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

UniProtKB/Swiss-Prot: NYAP1_HUMAN, Q6ZVC0

Function: Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates

neuronal morphogenesis (By similarity)

(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_079595.2

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for NYAP1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NYAP1 promoter sequence

Search SABiosciences Chromatin IP Primers for NYAP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NYAP1

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

Entrez Gene cytogenetic band: 7q22.1 Ensembl cytogenetic band: 7q22.1 HGNC cytogenetic band: 7q22.1

NYAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NYAP1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P100082: view genomic region (about GC identifiers)

Start:	100,081,550 bp from pter	End:	100,092,422 bp from pter
Size:	10,873 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 99,441,628-99,452,500

(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,
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About This Section

UniProtKB/Swiss-Prot: NYAP1_HUMAN, Q6ZVC0 (See protein sequence)

Recommended Name: Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1

Size: 841 amino acids; 87928 Da

Subunit: Interacts with ACOT9, ARHGAP26 and PIK3R2. Interacts with components of the WAVE1 complex, CYFIP1 and NCKAP1;

this interaction mediates PI3K-WAVE1 association and actin cytoskeleton remodeling (By similarity)

Sequence caution: Sequence=BAC04437.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q6U9Y3 Q8N1V0

Alternative splicing: 2 isoforms: Q6ZVC0-1 Q6ZVC0-2

Explore the universe of human proteins at neXtProt for NYAP1: NX_Q6ZVC0

Post-translational modifications:

Phosphorylated on tyrosine residues by FYN upon stimulation with CNTN5 (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6ZVC0

NYAP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_775835.2

ENSEMBL proteins:

ENSP00000300179 ENSP00000394424 ENSP00000411861

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

NYAP1 for domains About GeneDecksing

2 InterPro domains/families:

IPR026724 NYAP1

IPR026722 NYAP1/NYAP2

Graphical View of Domain Structure for InterPro Entry Q6ZVC0

ProtoNet protein and cluster: Q6ZVC0

UniProtKB/Swiss-Prot: NYAP1_HUMAN, Q6ZVC0

Similarity: Belongs to the NYAP 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

Function Summary:

UniProtKB/Swiss-Prot: NYAP1_HUMAN, Q6ZVC0

Function: Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates

neuronal morphogenesis (By similarity)

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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:0005515	protein binding	--	--

NYAP1 for ontologies About GeneDecksing

(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 NYAP1

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0014065	phosphatidylinositol 3-kinase cascade	ISS	--
GO:0048812	neuron projection morphogenesis	ISS	--

NYAP1 for ontologies About GeneDecksing

(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

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(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,
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About This Section

REFSEQ mRNAs for NYAP1 gene:

NM_173564.3

Unigene Cluster for NYAP1:

Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1

Hs.320086 [show with all ESTs]

Unigene Representative Sequence: NM_173564

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

ENST00000300179(uc003uvd.1) ENST00000454988 ENST00000496985 ENST00000489641

ENST00000423930(uc003uve.1)

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Additional cDNA sequence:

AK094857.1 AK124773.1 AY375450.1 BC041433.1

3 DOTS entries:

DT.40291821 DT.95335741 DT.439604

13 AceView cDNA sequences:

CD106950 NM_173564 AY375450 CK823167 AK094857 AK124773 BQ101188 BG910243

BC041433 T26502 BQ888696 BQ721868 BQ923631

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for NYAP1 About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6
SP1:
SP2:
SP3:

ECgene alternative splicing isoforms for NYAP1

(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

NYAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

NYAP1 expression in embryonic tissues and stem cells

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

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Cartilage

Lumbar Intervertebral Disc

Intervertebral Disc Nucleus Pulposus Cells

Cartilage

Brain

Neural Tube

Neural Tube

Neural Tube

Primitive Streak

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NYAP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NYAP1

SOURCE GeneReport for Unigene cluster: Hs.320086

SABiosciences Custom PCR Arrays for NYAP1

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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 NYAP1 gene from 1/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	C7orf51⁶	--	59(a)	1 ↔ 1	GL344206.1(17690-22056)

ENSEMBL Gene Tree for NYAP1 (if available)
TreeFam Gene Tree for NYAP1 (if available)

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

Paralogs for NYAP1 gene

NYAP2²

NYAP1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for NYAP1
PGOHUM00000241125

(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
				--	--	--		--	--
rs181514790^1,2		--	100079575(+)	`TCCTGC/TCTCAG`	1	--	us2k¹		0	--	--	--	--
rs186050744^1,2		--	100079683(+)	`GTCTCA/GAACTC`	1	--	us2k¹		0	--	--	--	--
rs147822725^1,2		--	100079752(+)	`GCCACC/TGCTCC`	1	--	us2k¹		0	--	--	--	--
rs141372340^1,2		--	100079759(+)	`CTCCCA/GGCCTA`	1	--	us2k¹		0	--	--	--	--
rs6971558^1,2	C,F,A,H,	--	100079857(+)	`AGCCTT/ATAATA`	1	--	us2k¹		21		NS EA NA WA CSA	1274
rs6972167^1,2	C,F,A,H,	--	100080013(+)	`GTTTTG/TGTTTT`	1	--	us2k¹		6		NA WA CSA	246
rs75095916^1,2		--	100080111(+)	`CTCACG/ATCAAC`	1	--	us2k¹		1		NA	120
rs190516333^1,2		--	100080116(+)	`GTCAAA/CCTCTG`	1	--	us2k¹		0	--	--	--	--
rs143699050^1,2		--	100080122(+)	`CTCTGC/TCTTCC`	1	--	us2k¹		0	--	--	--	--
rs183899358^1,2		--	100080264(+)	`TTCTGA/TTGTCA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NYAP1 (100081550 - 100092422 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NYAP1: --

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

NYAP1 for disorders About GeneDecksing

1 disease for NYAP1: About MalaCards

neuronitis

Export disorders for NYAP1 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 NYAP1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with NYAP1)

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

NYAP: a phosphoprotein family that links PI3K to WAVE 1 signalling in neurons. (PubMed id 21946561)^{1, 3} Yokoyama K....Yamamoto T. (2011)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (2003)
Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
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: 222950	HGNC: 22009	AceView: FLJ37538	Ensembl:ENSG00000166924	euGenes: HUgn222950
ECgene: NYAP1	H-InvDB: NYAP1

(According to HUGE)
About This Section

HUGE: KIAA1486-like KIAA1486L

(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 NYAP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NYAP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for NYAP1 gene:
Search GeneIP for patents involving NYAP1

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),
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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

The GeneCards Human Gene Database

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

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NYAP1 Gene

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase...

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NYAP1 Gene

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase...

Aliasesfor NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene

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for NYAP1 gene