Format

Send to:

Choose Destination

PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 [ Homo sapiens (human) ]

Gene ID: 118788, updated on 4-Oct-2020

Summary

Official Symbol
PIK3AP1provided by HGNC
Official Full Name
phosphoinositide-3-kinase adaptor protein 1provided by HGNC
Primary source
HGNC:HGNC:30034
See related
Ensembl:ENSG00000155629 MIM:607942
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
BCAP
Expression
Broad expression in spleen (RPKM 34.0), lymph node (RPKM 33.6) and 19 other tissues See more
Orthologs

Genomic context

See PIK3AP1 in Genome Data Viewer
Location:
10q24.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (96593312..96720514, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (98353069..98480279, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene tolloid like 2 Neighboring gene transmembrane 9 superfamily member 3 Neighboring gene nucleophosmin 1 pseudogene 26 Neighboring gene uncharacterized LOC105378443 Neighboring gene RNA, 5S ribosomal pseudogene 324 Neighboring gene ribosomal protein S2 pseudogene 36 Neighboring gene RNA, U6 small nuclear 1274, pseudogene Neighboring gene ribosomal protein L13a pseudogene 5

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol 3-kinase regulatory subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol 3-kinase regulatory subunit binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
positive regulation of phosphatidylinositol 3-kinase signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
toll-like receptor 2 signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
toll-like receptor 4 signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
toll-like receptor 7 signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
toll-like receptor 9 signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phosphoinositide 3-kinase adapter protein 1
Names
B cell adaptor protein
B-cell adapter for phosphoinositide 3-kinase
B-cell phosphoinositide 3-kinase adapter protein 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_152309.3NP_689522.2  phosphoinositide 3-kinase adapter protein 1

    See identical proteins and their annotated locations for NP_689522.2

    Status: VALIDATED

    Source sequence(s)
    AI826732, AK092883, AK122584, AK125635, BX648550
    Consensus CDS
    CCDS31259.1
    UniProtKB/Swiss-Prot
    Q6ZUJ8
    UniProtKB/TrEMBL
    Q86YV3
    Related
    ENSP00000339826.5, ENST00000339364.10
    Conserved Domains (1) summary
    pfam14545
    Location:180318
    DBB; Dof, BCAP, and BANK (DBB) motif,

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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    96593312..96720514 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539249.1XP_011537551.1  phosphoinositide 3-kinase adapter protein 1 isoform X2

    Conserved Domains (1) summary
    pfam14545
    Location:180318
    DBB; Dof, BCAP, and BANK (DBB) motif,
  2. XM_011539248.1XP_011537550.1  phosphoinositide 3-kinase adapter protein 1 isoform X1

    Conserved Domains (1) summary
    pfam14545
    Location:180318
    DBB; Dof, BCAP, and BANK (DBB) motif,
  3. XM_005269499.1XP_005269556.1  phosphoinositide 3-kinase adapter protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005269556.1

    UniProtKB/Swiss-Prot
    Q6ZUJ8
    Conserved Domains (1) summary
    pfam14545
    Location:2140
    DBB; Dof, BCAP, and BANK (DBB) motif,
  4. XM_005269498.1XP_005269555.1  phosphoinositide 3-kinase adapter protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005269555.1

    UniProtKB/Swiss-Prot
    Q6ZUJ8
    Related
    ENSP00000360151.2, ENST00000371110.6
    Conserved Domains (1) summary
    pfam14545
    Location:2140
    DBB; Dof, BCAP, and BANK (DBB) motif,
Support Center