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... See more...

Aliases for BASP1 Gene

Aliases for BASP1 Gene

  • Brain Abundant Membrane Attached Signal Protein 1 2 3 5
  • 22 KDa Neuronal Tissue-Enriched Acidic Protein 3 4
  • Neuronal Axonal Membrane Protein NAP-22 3 4
  • Brain Acid Soluble Protein 1 3 4
  • NAP22 3 4
  • Brain Abundant, Membrane Attached Signal Protein 1 2
  • Neuronal Tissue-Enriched Acidic Protein 3
  • Brain Acid-Soluble Protein 1 3
  • CAP-23 3
  • NAP-22 3
  • CAP23 3

External Ids for BASP1 Gene

Previous GeneCards Identifiers for BASP1 Gene

  • GC05P017265
  • GC05P017495
  • GC05P017270
  • GC05P017217

Summaries for BASP1 Gene

Entrez Gene Summary for BASP1 Gene

  • 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]

GeneCards Summary for BASP1 Gene

BASP1 (Brain Abundant Membrane Attached Signal Protein 1) is a Protein Coding gene. Diseases associated with BASP1 include Mental Retardation, Autosomal Dominant 48 and Wilms Tumor 1. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and transcription corepressor activity.

Gene Wiki entry for BASP1 Gene

Additional gene information for BASP1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BASP1 Gene

Genomics for BASP1 Gene

GeneHancer (GH) Regulatory Elements for BASP1 Gene

Promoters and enhancers for BASP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J017216 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.1 +152.5 152503 5.8 ZNF217 EP300 CTCF ZSCAN5C SIN3A TCF12 NRF1 ZNF639 ZIC2 POLR2A BASP1-AS1 BASP1 RF00026-848 RNU6-1003P lnc-MYO10-6 RF00017-4531
GH05J017222 Promoter 0.3 EPDnew 500.1 +155.8 155770 0.1 BASP1 BASP1-AS1 RF00026-848 RNU6-1003P lnc-MYO10-6 RF00017-4531
GH05J017064 Enhancer 0.2 Ensembl 500.7 -1.1 -1097 0.6 BASP1 lnc-BASP1-2 piR-34696-014 piR-53063-196 RF00017-4529
GH05J017184 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 21.6 +123.1 123058 8.9 CTCF ZSCAN5C TEAD4 FOS REST MYC RAD21 TRIM22 ZEB1 SMC3 BASP1 BASP1-AS1 MYO10 DCAF13P2 LOC105374664 lnc-MYO10-6 RF00017-4529 RF00017-4531
GH05J017117 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 11.3 +53.8 53795 3.5 TCF12 JUND FOS ZBTB11 TRIM28 EP300 ZNF341 NR2F2 NEUROD1 WT1 ENSG00000206814 ENSG00000271892 BASP1 RF00017-4532 BASP1-AS1 RF00017-4529 RF00017-4531
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BASP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BASP1

Top Transcription factor binding sites by QIAGEN in the BASP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • C/EBPbeta
  • GATA-6
  • RREB-1
  • Sox5

Genomic Locations for BASP1 Gene

Genomic Locations for BASP1 Gene
chr5:17,065,598-17,276,845
(GRCh38/hg38)
Size:
211,248 bases
Orientation:
Plus strand
chr5:17,065,707-17,276,943
(GRCh37/hg19)
Size:
211,237 bases
Orientation:
Plus strand

Genomic View for BASP1 Gene

Genes around BASP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BASP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BASP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BASP1 Gene

Proteins for BASP1 Gene

  • Protein details for BASP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P80723-BASP1_HUMAN
    Recommended name:
    Brain acid soluble protein 1
    Protein Accession:
    P80723
    Secondary Accessions:
    • B4DJA8
    • D3DTD5
    • O43596
    • Q5U0S0
    • Q9BWA5

    Protein attributes for BASP1 Gene

    Size:
    227 amino acids
    Molecular mass:
    22693 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BASP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BASP1 Gene

Post-translational modifications for BASP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BASP1 Gene

No data available for DME Specific Peptides for BASP1 Gene

Domains & Families for BASP1 Gene

Gene Families for BASP1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for BASP1 Gene

Blocks:
  • Brain acid soluble protein 1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BASP1 Gene

GenScript: Design optimal peptide antigens:
  • Neuronal axonal membrane protein NAP-22 (BASP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P80723

UniProtKB/Swiss-Prot:

BASP1_HUMAN :
  • Belongs to the BASP1 family.
Family:
  • Belongs to the BASP1 family.
genes like me logo Genes that share domains with BASP1: view

Function for BASP1 Gene

Molecular function for BASP1 Gene

GENATLAS Biochemistry:
brain acid-soluble protein 1,myristoylated protein,abundantly expressed in various tissue at nerve endings,also expressed in testis,kidney,lymphoid organs

Phenotypes From GWAS Catalog for BASP1 Gene

Gene Ontology (GO) - Molecular Function for BASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IMP 14701728
GO:0005515 protein binding IPI 19050011
GO:0019904 protein domain specific binding IPI 14701728
GO:0044212 transcription regulatory region DNA binding ISS --
genes like me logo Genes that share ontologies with BASP1: view
genes like me logo Genes that share phenotypes with BASP1: view

Animal Models for BASP1 Gene

MGI Knock Outs for BASP1:
  • Basp1 Basp1<tm1Crni>
  • Basp1 Basp1<tm2(Gap43)Crni>

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BASP1 Gene

Localization for BASP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BASP1 Gene

Cell membrane; Lipid-anchor. Cell projection, growth cone. Note=Associated with the membranes of growth cones that form the tips of elongating axons.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BASP1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytoskeleton 4
extracellular 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 14701728
GO:0005737 cytoplasm IDA,IBA 14701728
GO:0005856 cytoskeleton TAS 9749536
GO:0005886 plasma membrane IDA,TAS --
GO:0008180 colocalizes_with COP9 signalosome IDA 18850735
genes like me logo Genes that share ontologies with BASP1: view

Pathways & Interactions for BASP1 Gene

PathCards logo

SuperPathways for BASP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007356 thorax and anterior abdomen determination ISS --
GO:0008406 gonad development ISS --
GO:0021762 substantia nigra development HEP 22926577
GO:0045892 negative regulation of transcription, DNA-templated IMP 14701728
GO:0060231 mesenchymal to epithelial transition ISS --
genes like me logo Genes that share ontologies with BASP1: view

No data available for Pathways by source and SIGNOR curated interactions for BASP1 Gene

Drugs & Compounds for BASP1 Gene

(2) Drugs for BASP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for BASP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BASP1: view

Transcripts for BASP1 Gene

mRNA/cDNA for BASP1 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BASP1 Gene

No ASD Table

Relevant External Links for BASP1 Gene

GeneLoc Exon Structure for
BASP1

Expression for BASP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BASP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BASP1 Gene

This gene is overexpressed in Whole Blood (x12.0), Brain - Frontal Cortex (BA9) (x4.5), and Brain - Anterior cingulate cortex (BA24) (x4.3).

Protein differential expression in normal tissues from HIPED for BASP1 Gene

This gene is overexpressed in Nasal epithelium (10.7), Lavage (10.6), Frontal cortex (10.3), and Brain (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BASP1 Gene



Protein tissue co-expression partners for BASP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BASP1

SOURCE GeneReport for Unigene cluster for BASP1 Gene:

Hs.201641

mRNA Expression by UniProt/SwissProt for BASP1 Gene:

P80723-BASP1_HUMAN
Tissue specificity: Brain.

Evidence on tissue expression from TISSUES for BASP1 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Liver(4.3)
  • Blood(2.5)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with BASP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BASP1 Gene

Orthologs for BASP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BASP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BASP1 31 30
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BASP1 31 30
  • 79.19 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BASP1 31
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BASP1 30
  • 78.77 (n)
mouse
(Mus musculus)
Mammalia Basp1 17 31 30
  • 72.89 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910172 30
  • 66.35 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 64 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves BASP1 31
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BASP1 31
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20894 30
Species where no ortholog for BASP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BASP1 Gene

ENSEMBL:
Gene Tree for BASP1 (if available)
TreeFam:
Gene Tree for BASP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BASP1: view image

Paralogs for BASP1 Gene

No data available for Paralogs for BASP1 Gene

Variants for BASP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BASP1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
788981 Benign: not provided 17,275,255(+) T/C SYNONYMOUS_VARIANT
rs1554029393 Uncertain Significance: Inborn genetic diseases 17,275,889(+) G/T MISSENSE_VARIANT
rs3733748 - p.Ala76Val

Additional dbSNP identifiers (rs#s) for BASP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BASP1 Gene

Variant ID Type Subtype PubMed ID
esv2667347 CNV deletion 23128226
esv3565590 CNV deletion 23714750
esv3604156 CNV loss 21293372
nsv1123918 CNV deletion 24896259
nsv1133596 CNV deletion 24896259
nsv4738 CNV deletion 18451855
nsv521697 CNV loss 19592680
nsv597312 CNV loss 21841781
nsv823015 CNV gain 20364138
nsv830218 CNV loss 17160897

Variation tolerance for BASP1 Gene

Residual Variation Intolerance Score: 78.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.74; 46.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BASP1 Gene

Human Gene Mutation Database (HGMD)
BASP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BASP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BASP1 Gene

Disorders for BASP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BASP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 48
  • mrd48
wilms tumor 1
  • wt1
- elite association - COSMIC cancer census association via MalaCards
Search BASP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BASP1

genes like me logo Genes that share disorders with BASP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BASP1 Gene

Publications for BASP1 Gene

  1. Characterization of bovine and human cDNAs encoding NAP-22 (22 kDa neuronal tissue-enriched acidic protein) homologs. (PMID: 9749536) Park S … Yoon J (Molecules and cells 1998) 2 3 4 23 54
  2. The BASP1 family of myristoylated proteins abundant in axonal termini. Primary structure analysis and physico-chemical properties. (PMID: 9310187) Mosevitsky MI … Zakharov VV (Biochimie 1997) 2 3 4 23 54
  3. Dynamic interaction between WT1 and BASP1 in transcriptional regulation during differentiation. (PMID: 19050011) Green LM … Roberts SG (Nucleic acids research 2009) 3 23 54
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for BASP1 Gene

Sources for BASP1 Gene