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NYAP1 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 [ Homo sapiens (human) ]

Gene ID: 222950, updated on 27-Nov-2024

Summary

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Official Symbol
NYAP1provided by HGNC
Official Full Name
neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1provided by HGNC
Primary source
HGNC:HGNC:22009
See related
Ensembl:ENSG00000166924 MIM:615477; AllianceGenome:HGNC:22009
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C7orf51
Summary
Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase/protein kinase B signal transduction. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 8.0), testis (RPKM 3.2) and 5 other tissues See more
Orthologs
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Genomic context

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See NYAP1 in Genome Data Viewer
Location:
7q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100483927..100494802)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101724003..101734878)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100081550..100092425)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene TSC22D4-C7orf61 readthrough Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100054725-100054887 Neighboring gene sperm acrosome developmental regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18436 Neighboring gene TSC22 domain family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100069322-100070108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100070109-100070893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26369 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100080938-100081153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100081845-100082371 Neighboring gene Sharpr-MPRA regulatory region 11703 Neighboring gene Sharpr-MPRA regulatory region 1011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100087809-100088334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100088335-100088858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18440 Neighboring gene uncharacterized LOC107986829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26370 Neighboring gene RNA, 7SL, cytoplasmic 416, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. NYAP: a phosphoprotein family that links PI3K to WAVE1 signalling in neurons. Yokoyama K, et al. EMBO J, 2011 Sep 23. PMID 21946561, Free PMC Article
  2. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Arking DE, et al. Nat Genet, 2014 Aug. PMID 24952745, Free PMC Article
  3. Proteome-scale mapping of binding sites in the unstructured regions of the human proteome. Benz C, et al. Mol Syst Biol, 2022 Jan. PMID 35044719, Free PMC Article
  4. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. Bennett EJ, et al. Cell, 2010 Dec 10. PMID 21145461, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ37538

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in neuron projection morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuron projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_173564.4 → NP_775835.2  neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1

    See identical proteins and their annotated locations for NP_775835.2

    Status: VALIDATED

    Source sequence(s)
    AA737804, AC069281, AK124773
    Consensus CDS
    CCDS5696.1
    UniProtKB/Swiss-Prot
    Q6U9Y3, Q6ZVC0, Q8N1V0
    UniProtKB/TrEMBL
    C9JS30
    Related
    ENSP00000300179.2, ENST00000300179.7
    Conserved Domains (2) summary
    pfam15439
    Location:15 → 412
    NYAP_N; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter
    pfam15452
    Location:574 → 841
    NYAP_C; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    100483927..100494802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    101724003..101734878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZVC0.1 GenPept UniProtKB/Swiss-Prot:Q6ZVC0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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