BASP1 brain abundant membrane attached signal protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BASP1provided by HGNC
Official Full Name: brain abundant membrane attached signal protein 1provided by HGNC
Primary source: HGNC:HGNC:957
See related: Ensembl:ENSG00000176788 MIM:605940; AllianceGenome:HGNC:957
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: CAP23; NAP22; CAP-23; NAP-22
Summary: This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]
Expression: Biased expression in brain (RPKM 144.2), prostate (RPKM 45.3) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (17216823..17276834)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (17156199..17216216)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (17216932..17276943)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Myeloid-specific ablation of Basp1 ameliorates diet-induced NASH in mice by attenuating pro-inflammatory signaling.
Title: Myeloid-specific ablation of Basp1 ameliorates diet-induced NASH in mice by attenuating pro-inflammatory signaling.
Circ_0008285 silencing suppresses angiotensin II-induced vascular smooth muscle cell apoptosis in thoracic aortic aneurysm via miR-150-5p/BASP1 axis.
Title: Circ_0008285 silencing suppresses angiotensin II-induced vascular smooth muscle cell apoptosis in thoracic aortic aneurysm via miR-150-5p/BASP1 axis.
BASP1 expression is associated with poor prognosis and is correlated with immune infiltration in gastric cancer.
Title: BASP1 expression is associated with poor prognosis and is correlated with immune infiltration in gastric cancer.
Downregulation of BASP1 Promotes Temozolomide Resistance in Gliomas via Epigenetic Activation of the FBXO32/NF-kappaB/MGMT Axis.
Title: Downregulation of BASP1 Promotes Temozolomide Resistance in Gliomas via Epigenetic Activation of the FBXO32/NF-κB/MGMT Axis.
BASP1 promotes high glucose-induced endothelial apoptosis in diabetes via activation of EGFR signaling.
Title: BASP1 promotes high glucose-induced endothelial apoptosis in diabetes via activation of EGFR signaling.
BASP1 is up-regulated in tongue squamous cell carcinoma and associated with a poor prognosis.
Title: BASP1 is up-regulated in tongue squamous cell carcinoma and associated with a poor prognosis.
Cholesterol is required for transcriptional repression by BASP1.
Title: Cholesterol is required for transcriptional repression by BASP1.
Overexpression of BASP1 Indicates a Poor Prognosis in Head and Neck Squamous Cell Carcinoma.
Title: Overexpression of BASP1 Indicates a Poor Prognosis in Head and Neck Squamous Cell Carcinoma.
Targeting positive feedback between BASP1 and EGFR as a therapeutic strategy for lung cancer progression.
Title: Targeting positive feedback between BASP1 and EGFR as a therapeutic strategy for lung cancer progression.
The brain acid-soluble protein 1 (BASP1) interferes with the oncogenic capacity of MYC and its binding to calmodulin.
Title: The brain acid-soluble protein 1 (BASP1) interferes with the oncogenic capacity of MYC and its binding to calmodulin.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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 association of mood-incongruent psychotic bipolar disorder. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of brain membrane attached signal protein 1 (BASP1) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35277 (e-PCR)
- UniSTS:15675

RH103673 (e-PCR)
- UniSTS:97998

SHGC-105831 (e-PCR)
- UniSTS:169440

RH80044 (e-PCR)
- UniSTS:88290

SHGC-105828 (e-PCR)
- UniSTS:169469

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in diaphragm development	ISS Inferred from Sequence or Structural Similarity more info
involved_in gonad development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesenchymal to epithelial transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephric mesenchyme development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in podocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of heart growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of metanephric ureteric bud development	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in substantia nigra development	HEP more info	PubMed
involved_in supramolecular fiber organization	IDA Inferred from Direct Assay more info	PubMed
involved_in thorax and anterior abdomen determination	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of COP9 signalosome	IDA Inferred from Direct Assay more info	PubMed
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info
located_in chromatin	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: brain acid soluble protein 1

Names: 22 kDa neuronal tissue-enriched acidic protein; brain acid-soluble protein 1; neuronal axonal membrane protein NAP-22; neuronal tissue-enriched acidic protein

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.

mRNA and Protein(s)

NM_001271606.2 → NP_001258535.1 brain acid soluble protein 1

See identical proteins and their annotated locations for NP_001258535.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC000518, BM973114, BU181147, DA489123, DW458407, HY258599

Consensus CDS

CCDS3888.1

UniProtKB/Swiss-Prot

B4DJA8, D3DTD5, O43596, P80723, Q5U0S0, Q9BWA5

Related

ENSP00000482066.1, ENST00000616743.1

Conserved Domains (1) summary

pfam05466
Location:12 → 227

BASP1; Brain acid soluble protein 1 (BASP1 protein)
NM_006317.5 → NP_006308.3 brain acid soluble protein 1

See identical proteins and their annotated locations for NP_006308.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC000518, BM973114, BU181147, CN355202, HY258599

Consensus CDS

CCDS3888.1

UniProtKB/Swiss-Prot

B4DJA8, D3DTD5, O43596, P80723, Q5U0S0, Q9BWA5

Related

ENSP00000319281.3, ENST00000322611.4

Conserved Domains (1) summary

pfam05466
Location:12 → 227

BASP1; Brain acid soluble protein 1 (BASP1 protein)