SYAP1 synapse associated protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SYAP1provided by HGNC
Official Full Name: synapse associated protein 1provided by HGNC
Primary source: HGNC:HGNC:16273
See related: Ensembl:ENSG00000169895 AllianceGenome:HGNC:16273
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: BSTA; PRO3113
Summary: Involved in several processes, including TORC2 signaling; cellular response to epidermal growth factor stimulus; and cellular response to peptide hormone stimulus. Located in several cellular components, including Golgi apparatus; cytoplasmic side of plasma membrane; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal (RPKM 23.9), colon (RPKM 16.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (16719612..16765340)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (16302094..16347824)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (16737735..16783463)

Chromosome X - NC_000023.11 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 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?

BSTA (SYAP!) promotes mTORC2-mediated phosphorylation of Akt1 to suppress expression of FoxC2 and stimulate adipocyte differentiation.
Title: BSTA promotes mTORC2-mediated phosphorylation of Akt1 to suppress expression of FoxC2 and stimulate adipocyte differentiation.

Submit: New GeneRIF Correction

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

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

D8S2279 (e-PCR)
- UniSTS:473907

RH65480 (e-PCR)
- UniSTS:83570

RH103079 (e-PCR)
- UniSTS:97413

D11S3114 (e-PCR)
- UniSTS:152207

G10389 (e-PCR)
- UniSTS:49322

D3S1673 (e-PCR)
- UniSTS:148450

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in TORC2 signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in TORC2 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to epidermal growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to insulin-like growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to platelet-derived growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of short-term neuronal synaptic plasticity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in perikaryon	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: synapse-associated protein 1

Names: BSD domain-containing signal transducer and Akt interactor protein; SAP47 homolog; synapse associated protein 1, SAP47 homolog

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_016374.2 RefSeqGene

Range

5002..50730

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032796.4 → NP_116185.2 synapse-associated protein 1

See identical proteins and their annotated locations for NP_116185.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.

Source sequence(s)

AA829759, AF168955, AF305828, AL445467, DB047379, DB577454

Consensus CDS

CCDS14177.1

UniProtKB/Swiss-Prot

Q68CP1, Q96A49, Q96C60, Q96JQ6, Q96T20

UniProtKB/TrEMBL

B2RBI2, Q53GS5

Related

ENSP00000369500.3, ENST00000380155.4

Conserved Domains (1) summary

smart00751
Location:160 → 210

BSD; domain in transcription factors and synapse-associated proteins

RNA

NR_033181.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA829759, AK303783, AL445467, DB047379