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STAP1 signal transducing adaptor family member 1 [ Homo sapiens (human) ]

Gene ID: 26228, updated on 7-Jun-2020

Summary

Official Symbol
STAP1provided by HGNC
Official Full Name
signal transducing adaptor family member 1provided by HGNC
Primary source
HGNC:HGNC:24133
See related
Ensembl:ENSG00000035720 MIM:604298
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BRDG1; STAP-1
Summary
The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression
Biased expression in lymph node (RPKM 15.1), appendix (RPKM 6.5) and 5 other tissues See more
Orthologs

Genomic context

See STAP1 in Genome Data Viewer
Location:
4q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (67558727..67607337)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68424415..68473059)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 527 Neighboring gene centromere protein C Neighboring gene small EDRK-rich factor 2 pseudogene Neighboring gene ubiquitin like modifier activating enzyme 6 Neighboring gene UBA6 antisense RNA 1 (head to head) Neighboring gene ST3GAL1 pseudogene 1

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
NHGRI GWA Catalog

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
macrophage colony-stimulating factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
phospholipid binding NAS
Non-traceable Author Statement
more info
PubMed 
phosphotyrosine residue binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling adaptor activity IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane receptor protein tyrosine kinase adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cellular response to lipopolysaccharide ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of macrophage chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of macrophage colony-stimulating factor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of microglial cell migration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of ruffle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of B cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of microglial cell activation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of microglial cell mediated cytotoxicity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of non-membrane spanning protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phagocytosis, engulfment ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
signal-transducing adaptor protein 1
Names
BCR downstream-signaling protein 1
docking protein BRDG1
stem cell adaptor 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.

Genomic

  1. NG_047142.1 RefSeqGene

    Range
    5000..53610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317769.2NP_001304698.1  signal-transducing adaptor protein 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB023483, BC014958, BX372307
    Consensus CDS
    CCDS3515.1
    UniProtKB/Swiss-Prot
    Q9ULZ2
    UniProtKB/TrEMBL
    A0A024RD91
    Related
    ENSP00000379527.1, ENST00000396225.1
    Conserved Domains (2) summary
    cd10403
    Location:176268
    SH2_STAP1; Src homology 2 domain found in Signal-transducing adaptor protein 1 (STAP1)
    cd13268
    Location:15139
    PH_Brdg1; BCR downstream signaling 1 Pleckstrin homology (PH) domain
  2. NM_012108.4NP_036240.1  signal-transducing adaptor protein 1

    See identical proteins and their annotated locations for NP_036240.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB023483, BE326685, BG190230, BX372307
    Consensus CDS
    CCDS3515.1
    UniProtKB/Swiss-Prot
    Q9ULZ2
    UniProtKB/TrEMBL
    A0A024RD91
    Related
    ENSP00000265404.2, ENST00000265404.7
    Conserved Domains (2) summary
    cd10403
    Location:176268
    SH2_STAP1; Src homology 2 domain found in Signal-transducing adaptor protein 1 (STAP1)
    cd13268
    Location:15139
    PH_Brdg1; BCR downstream signaling 1 Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    67558727..67607337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008018.2XP_016863507.1  signal-transducing adaptor protein 1 isoform X1

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