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

Summary

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

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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 EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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