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

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; AllianceGenome:HGNC:24133
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: mouse all
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Genomic context

Location:: 4q13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (67558727..67607337)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (71001810..71050419)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (68424445..68473055)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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

What's a GeneRIF?

Relationship between STAP1 methylation in peripheral blood T cells and the clinicopathological characteristics and prognosis of patients within 5-cm diameter HCC.
Title: Relationship between STAP1 methylation in peripheral blood T cells and the clinicopathological characteristics and prognosis of patients within 5-cm diameter HCC.
Diagnostic and prognostic value of STAP1 and AHNAK methylation in peripheral blood immune cells for HBV-related hepatopathy.
Title: Diagnostic and prognostic value of STAP1 and AHNAK methylation in peripheral blood immune cells for HBV-related hepatopathy.
Signal-transducing adaptor protein-1 and protein-2 in hematopoiesis and diseases.
Title: Signal-transducing adaptor protein-1 and protein-2 in hematopoiesis and diseases.
Positive interactions between STAP-1 and BCR-ABL influence chronic myeloid leukemia cell proliferation and survival.
Title: Positive interactions between STAP-1 and BCR-ABL influence chronic myeloid leukemia cell proliferation and survival.
Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.
Title: Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.
Our combined studies in mouse models and carriers of STAP1 variants indicate that STAP1 is not a familial hypercholesterolemia gene.
Title: Taking One Step Back in Familial Hypercholesterolemia: STAP1 Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans.
The findings confirm and extend the linkage between STAP1 variants and FH, and point to an important role of this adaptor protein within a signaling pathway that affects cholesterol homeostasis.
Title: A rare STAP1 mutation incompletely associated with familial hypercholesterolemia.
STAP1 associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age </=65 years, and LDL-C levels >/=160 mg/dl.
Title: Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.
Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.
Title: Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

BRDG1_4463 (e-PCR)
- UniSTS:462779

RH121611 (e-PCR)
- UniSTS:134383

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables macrophage colony-stimulating factor receptor binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	NAS Non-traceable Author Statement more info	PubMed
enables phosphotyrosine residue binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling adaptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase adaptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of macrophage chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of macrophage colony-stimulating factor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of microglial cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of ruffle assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of B cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of B cell receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of microglial cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of microglial cell mediated cytotoxicity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phagocytosis, engulfment	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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.

Genomic

NG_047142.1 RefSeqGene

Range

5000..53610

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001317769.2 → NP_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

B2R980, Q9ULZ2

Related

ENSP00000379527.1, ENST00000396225.1

Conserved Domains (2) summary

cd10403
Location:176 → 268

SH2_STAP1; Src homology 2 domain found in Signal-transducing adaptor protein 1 (STAP1)

cd13268
Location:15 → 139

PH_Brdg1; BCR downstream signaling 1 Pleckstrin homology (PH) domain
NM_012108.4 → NP_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

B2R980, Q9ULZ2

Related

ENSP00000265404.2, ENST00000265404.7

Conserved Domains (2) summary

cd10403
Location:176 → 268

SH2_STAP1; Src homology 2 domain found in Signal-transducing adaptor protein 1 (STAP1)

cd13268
Location:15 → 139

PH_Brdg1; BCR downstream signaling 1 Pleckstrin homology (PH) domain