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Aliases for CAP1 Gene

Aliases for CAP1 Gene

  • Cyclase Associated Actin Cytoskeleton Regulatory Protein 1 2 3 5
  • Adenylate Cyclase Associated Protein 1 2 3
  • CAP 3 4
  • CAP, Adenylate Cyclase-Associated Protein 1 (Yeast) 2
  • Testis Secretory Sperm-Binding Protein Li 218p 3
  • CAP, Adenylate Cyclase-Associated Protein 1 3
  • Adenylyl Cyclase-Associated Protein 1 3
  • CAP1-PEN 3
  • CAP 1 4

External Ids for CAP1 Gene

Previous GeneCards Identifiers for CAP1 Gene

  • GC01P039969
  • GC01P039920
  • GC01P039921
  • GC01P040175
  • GC01P040278
  • GC01P040505
  • GC01P038624

Summaries for CAP1 Gene

Entrez Gene Summary for CAP1 Gene

  • The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2016]

GeneCards Summary for CAP1 Gene

CAP1 (Cyclase Associated Actin Cytoskeleton Regulatory Protein 1) is a Protein Coding gene. Diseases associated with CAP1 include Neuronal Ceroid Lipofuscinosis. Among its related pathways are Cytoskeletal Signaling and Developmental Biology. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is CAP2.

UniProtKB/Swiss-Prot for CAP1 Gene

  • Directly regulates filament dynamics and has been implicated in a number of complex developmental and morphological processes, including mRNA localization and the establishment of cell polarity.

Gene Wiki entry for CAP1 Gene

Additional gene information for CAP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAP1 Gene

Genomics for CAP1 Gene

GeneHancer (GH) Regulatory Elements for CAP1 Gene

Promoters and enhancers for CAP1 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
GH01J040036 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 657.6 -0.6 -584 7.1 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 CAP1 LOC105378669 PPT1 PPIEL PPIE TRIT1 ZNF684 ZFP69 EXO5 BMP8B
GH01J039931 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 21 -105.5 -105461 6.3 FOXA2 MLX ARID4B ETS1 YY1 ATF7 FOS NFKBIZ RXRA REST CAP1 MYCL TRIT1 PPT1 LOC105378668 ENSG00000202222 BMP8B RLF ZMPSTE24 SMAP2
GH01J039954 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11.2 -84.8 -84766 2.4 ZFP64 GLI4 ZNF2 ZNF48 GLIS2 ZFP91 ATF7 RUNX3 SP3 RXRA MFSD2A MYCL CAP1 TRIT1 ENSG00000202222 RPS2P12
GH01J040013 Enhancer 1.1 Ensembl ENCODE dbSUPER 19.5 -25.7 -25695 3 HDAC1 PKNOX1 GTF2E2 JUN FOSL1 ADNP FOS SMARCE1 RFX1 BHLHE40 CAP1 PPT1 MYCL LOC105378668 TRIT1 ENSG00000202222 HEYL ENSG00000259943 PIR32567 LOC105378669
GH01J040063 Enhancer 1.1 Ensembl ENCODE dbSUPER 18.5 +24.4 24387 3.2 IRF4 EED ATF7 ETV6 IKZF2 RUNX3 SRF ZNF639 E2F5 DPF2 PPT1 CAP1 ZMPSTE24 ENSG00000231296
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CAP1 gene promoter:

Genomic Locations for CAP1 Gene

Genomic Locations for CAP1 Gene
chr1:40,040,233-40,072,649
(GRCh38/hg38)
Size:
32,417 bases
Orientation:
Plus strand
chr1:40,505,905-40,538,321
(GRCh37/hg19)

Genomic View for CAP1 Gene

Genes around CAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAP1 Gene

Proteins for CAP1 Gene

  • Protein details for CAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01518-CAP1_HUMAN
    Recommended name:
    Adenylyl cyclase-associated protein 1
    Protein Accession:
    Q01518
    Secondary Accessions:
    • Q53HR7
    • Q5T0S1
    • Q5T0S2
    • Q6I9U6

    Protein attributes for CAP1 Gene

    Size:
    475 amino acids
    Molecular mass:
    51901 Da
    Quaternary structure:
    • Homodimer. Binds actin monomers.

    Three dimensional structures from OCA and Proteopedia for CAP1 Gene

    Alternative splice isoforms for CAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAP1 Gene

Post-translational modifications for CAP1 Gene

  • Ubiquitination at Lys412
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CAP1 Gene

Domains & Families for CAP1 Gene

Gene Families for CAP1 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q01518

UniProtKB/Swiss-Prot:

CAP1_HUMAN :
  • Belongs to the CAP family.
Family:
  • Belongs to the CAP family.
genes like me logo Genes that share domains with CAP1: view

Function for CAP1 Gene

Molecular function for CAP1 Gene

UniProtKB/Swiss-Prot Function:
Directly regulates filament dynamics and has been implicated in a number of complex developmental and morphological processes, including mRNA localization and the establishment of cell polarity.

Phenotypes From GWAS Catalog for CAP1 Gene

Gene Ontology (GO) - Molecular Function for CAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA,IEA --
GO:0008179 adenylate cyclase binding IBA --
genes like me logo Genes that share ontologies with CAP1: view
genes like me logo Genes that share phenotypes with CAP1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CAP1 Gene

Localization for CAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAP1 Gene

Cell membrane; Peripheral membrane protein.

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 CAP1 gene
Compartment Confidence
extracellular 5
lysosome 4
plasma membrane 3
cytoskeleton 3
cytosol 3
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0005925 focal adhesion HDA 21423176
genes like me logo Genes that share ontologies with CAP1: view

Pathways & Interactions for CAP1 Gene

genes like me logo Genes that share pathways with CAP1: view

Pathways by source for CAP1 Gene

1 Cell Signaling Technology pathway for CAP1 Gene

Gene Ontology (GO) - Biological Process for CAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IBA --
GO:0001667 ameboidal-type cell migration IEA --
GO:0006898 receptor-mediated endocytosis IEA --
GO:0007010 cytoskeleton organization IEA --
GO:0007163 establishment or maintenance of cell polarity TAS 1406678
genes like me logo Genes that share ontologies with CAP1: view

No data available for SIGNOR curated interactions for CAP1 Gene

Drugs & Compounds for CAP1 Gene

(1) Drugs for CAP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CAP1: view

Transcripts for CAP1 Gene

Unigene Clusters for CAP1 Gene

CAP, adenylate cyclase-associated protein 1 (yeast):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^
SP1:
SP2: -
SP3: - - - - - - - - - - - -
SP4: -
SP5: - - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - - -
SP8:

ExUns: 13a · 13b ^ 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for CAP1 Gene

GeneLoc Exon Structure for
CAP1
ECgene alternative splicing isoforms for
CAP1

Expression for CAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAP1 Gene

This gene is overexpressed in Whole Blood (x10.1).

Protein differential expression in normal tissues from HIPED for CAP1 Gene

This gene is overexpressed in Lymph node (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAP1 Gene



Protein tissue co-expression partners for CAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CAP1 Gene:

CAP1

SOURCE GeneReport for Unigene cluster for CAP1 Gene:

Hs.370581

Evidence on tissue expression from TISSUES for CAP1 Gene

  • Nervous system(5)
  • Blood(4.9)
  • Kidney(4.9)
  • Liver(4.8)
  • Skin(4.7)
  • Lung(4.3)
  • Intestine(4.2)
  • Pancreas(4)
  • Eye(3.6)
  • Spleen(2.8)
  • Stomach(2.5)
  • Bone(2.2)
  • Lymph node(2.2)
  • Bone marrow(2.1)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with CAP1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAP1 Gene

Orthologs for CAP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAP1 34 33
  • 99.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CAP1 34 33
  • 93.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CAP1 34 33
  • 91.95 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cap1 33
  • 90.72 (n)
mouse
(Mus musculus)
Mammalia Cap1 16 34 33
  • 90.65 (n)
oppossum
(Monodelphis domestica)
Mammalia CAP1 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAP1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAP1 34 33
  • 73.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAP1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cap1 33
  • 68.16 (n)
Str.2788 33
African clawed frog
(Xenopus laevis)
Amphibia CAP1b 33
zebrafish
(Danio rerio)
Actinopterygii cap1 34 33
  • 65.08 (n)
OneToOne
wufj98f01 33
fruit fly
(Drosophila melanogaster)
Insecta capt 34 33
  • 55.09 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010175 33
  • 53.25 (n)
worm
(Caenorhabditis elegans)
Secernentea cas-1 34 33
  • 48.36 (n)
ManyToMany
cas-2 34
  • 34 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11638g 33
  • 47.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRV2 34 33
  • 46.75 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CAP1 33
  • 47.17 (n)
rice
(Oryza sativa)
Liliopsida Os08g0447900 33
  • 47.13 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cap1 33
  • 48.41 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08008 33
  • 44.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.162 34
  • 38 (a)
OneToMany
Species where no ortholog for CAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAP1 Gene

ENSEMBL:
Gene Tree for CAP1 (if available)
TreeFam:
Gene Tree for CAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAP1: view image

Paralogs for CAP1 Gene

Paralogs for CAP1 Gene

(2) SIMAP similar genes for CAP1 Gene using alignment to 13 proteins:

  • CAP1_HUMAN
  • D3DPU2_HUMAN
  • L8EAI0_HUMAN
  • Q5T0R1_HUMAN
  • Q5T0R2_HUMAN
  • Q5T0R3_HUMAN
  • Q5T0R4_HUMAN
  • Q5T0R5_HUMAN
  • Q5T0R6_HUMAN
  • Q5T0R7_HUMAN
  • Q5T0R8_HUMAN
  • Q5T0R9_HUMAN
  • Q5T0S3_HUMAN

Pseudogenes.org Pseudogenes for CAP1 Gene

genes like me logo Genes that share paralogs with CAP1: view

Variants for CAP1 Gene

Sequence variations from dbSNP and Humsavar for CAP1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057515445 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 40,073,042(+) G/A downstream_transcript_variant
rs1057515481 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 40,072,973(+) C/T downstream_transcript_variant
rs1057515553 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 40,072,761(+) CCCCCCC/CCCCCCCC downstream_transcript_variant
rs111872097 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 40,072,770(+) CTTCTT/CTT downstream_transcript_variant
rs12061777 likely-benign, Neuronal Ceroid-Lipofuscinosis, Recessive 40,072,786(+) C/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CAP1 Gene

Variant ID Type Subtype PubMed ID
esv2750836 CNV gain 17911159
esv2758933 CNV loss 17122850
esv3332178 CNV insertion 20981092
nsv517028 CNV gain 19592680
nsv588 CNV insertion 18451855
nsv945897 CNV duplication 23825009
nsv950665 CNV duplication 24416366

Variation tolerance for CAP1 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.29; 41.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAP1 Gene

Disorders for CAP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CAP1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuronal ceroid lipofuscinosis
  • batten disease
- elite association - COSMIC cancer census association via MalaCards
Search CAP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAP1 Gene

Publications for CAP1 Gene

  1. Identification of a human cDNA encoding a protein that is structurally and functionally related to the yeast adenylyl cyclase-associated CAP proteins. (PMID: 1406678) Matviw H … Young D (Molecular and cellular biology 1992) 2 3 4 22 58
  2. Crystal structure of the actin binding domain of the cyclase-associated protein. (PMID: 15311924) Dodatko T … Almo SC (Biochemistry 2004) 3 4 22 58
  3. Mammalian CAP interacts with CAP, CAP2, and actin. (PMID: 8761950) Hubberstey A … Young D (Journal of cellular biochemistry 1996) 2 3 22 58
  4. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 44 58
  5. Adenylate cyclase-associated protein 1 overexpressed in pancreatic cancers is involved in cancer cell motility. (PMID: 19188911) Yamazaki K … Sakamoto M (Laboratory investigation; a journal of technical methods and pathology 2009) 3 22 58

Products for CAP1 Gene

Sources for CAP1 Gene

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