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

Gene ID: 222950, updated on 4-Oct-2020

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
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
Expression
Biased expression in brain (RPKM 8.0), testis (RPKM 3.2) and 5 other tissues See more
Orthologs

Genomic context

See NYAP1 in Genome Data Viewer
Location:
7q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (100483927..100494802)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100081550..100092425)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene chromosome 7 open reading frame 61 Neighboring gene TSC22 domain family member 4 Neighboring gene Sharpr-MPRA regulatory region 1011 Neighboring gene uncharacterized LOC107986829 Neighboring gene RNA, 7SL, cytoplasmic 416, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ37538

Gene Ontology Provided by GOA

Process Evidence Code Pubs
neuron projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol 3-kinase signaling ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_173564.4NP_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
    Q6ZVC0
    Related
    ENSP00000300179.2, ENST00000300179.7
    Conserved Domains (2) summary
    pfam15439
    Location:15412
    NYAP_N; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter
    pfam15452
    Location:574841
    NYAP_C; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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