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Aliases for NCKAP1 Gene

Aliases for NCKAP1 Gene

  • NCK Associated Protein 1 2 3
  • Membrane-Associated Protein HEM-2 3 4
  • P125Nap1 3 4
  • NAP1 3 4
  • HEM2 3 4
  • NCK-Associated Protein 1 5
  • KIAA0587 4
  • NAP125 3
  • NAP 1 4

External Ids for NCKAP1 Gene

Previous GeneCards Identifiers for NCKAP1 Gene

  • GC02M181996
  • GC02M182472
  • GC02M183753
  • GC02M183992
  • GC02M183615
  • GC02M183497
  • GC02M175648
  • GC02M183789

Summaries for NCKAP1 Gene

GeneCards Summary for NCKAP1 Gene

NCKAP1 (NCK Associated Protein 1) is a Protein Coding gene. Diseases associated with NCKAP1 include Nance-Horan Syndrome. Among its related pathways are Regulation of actin dynamics for phagocytic cup formation and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include protein complex binding and Rac GTPase binding. An important paralog of this gene is NCKAP1L.

UniProtKB/Swiss-Prot for NCKAP1 Gene

  • Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1.

Gene Wiki entry for NCKAP1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCKAP1 Gene

Genomics for NCKAP1 Gene

Regulatory Elements for NCKAP1 Gene

Enhancers for NCKAP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NCKAP1 on UCSC Golden Path with GeneCards custom track

Promoters for NCKAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NCKAP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NCKAP1 Gene

Chromosome:
2
Start:
182,909,115 bp from pter
End:
183,038,858 bp from pter
Size:
129,744 bases
Orientation:
Minus strand

Genomic View for NCKAP1 Gene

Genes around NCKAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCKAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCKAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCKAP1 Gene

Proteins for NCKAP1 Gene

  • Protein details for NCKAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2A7-NCKP1_HUMAN
    Recommended name:
    Nck-associated protein 1
    Protein Accession:
    Q9Y2A7
    Secondary Accessions:
    • O60329
    • Q53QN5
    • Q53S94
    • Q53Y35

    Protein attributes for NCKAP1 Gene

    Size:
    1128 amino acids
    Molecular mass:
    128790 Da
    Quaternary structure:
    • Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within the complex, a heterdimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and BRK1. Component of the WAVE2 complex composed of ABI1, CYFIP1/SRA1, NCKAP1/NAP1 and WASF2/WAVE2. CYFIP2 binds to activated RAC1 which causes the complex to dissociate, releasing activated WASF1. The complex can also be activated by NCK1. Associates preferentially with the first SH3 domain of NCK. Interacts with NYAP1, NYAP2 and MYO16 (By similarity). Interacts with human cytomegalovirus protein UL135.
    SequenceCaution:
    • Sequence=BAA25513.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NCKAP1 Gene

    Alternative splice isoforms for NCKAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCKAP1 Gene

Proteomics data for NCKAP1 Gene at MOPED

Post-translational modifications for NCKAP1 Gene

  • Ubiquitination at Lys 58 and Lys 895
  • Modification sites at PhosphoSitePlus

Other Protein References for NCKAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NCKAP1

No data available for DME Specific Peptides for NCKAP1 Gene

Domains & Families for NCKAP1 Gene

Protein Domains for NCKAP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NCKAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2A7

UniProtKB/Swiss-Prot:

NCKP1_HUMAN :
  • Belongs to the HEM-1/HEM-2 family.
Family:
  • Belongs to the HEM-1/HEM-2 family.
genes like me logo Genes that share domains with NCKAP1: view

No data available for Gene Families for NCKAP1 Gene

Function for NCKAP1 Gene

Molecular function for NCKAP1 Gene

UniProtKB/Swiss-Prot Function:
Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1.

Gene Ontology (GO) - Molecular Function for NCKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032403 protein complex binding IDA 18560548
genes like me logo Genes that share ontologies with NCKAP1: view
genes like me logo Genes that share phenotypes with NCKAP1: view

Animal Model Products

miRNA for NCKAP1 Gene

miRTarBase miRNAs that target NCKAP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NCKAP1 Gene

Localization for NCKAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCKAP1 Gene

Cell membrane; Single-pass membrane protein; Cytoplasmic side. Cell projection, lamellipodium membrane; Single-pass membrane protein; Cytoplasmic side. Note=At the interface between the lamellipodial actin meshwork and the membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NCKAP1 Gene COMPARTMENTS Subcellular localization image for NCKAP1 gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NCKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NCKAP1: view

Pathways & Interactions for NCKAP1 Gene

genes like me logo Genes that share pathways with NCKAP1: view

Gene Ontology (GO) - Biological Process for NCKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007417 central nervous system development TAS 10673335
GO:0016032 viral process IEA --
GO:0016601 Rac protein signal transduction IDA 21107423
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with NCKAP1: view

No data available for SIGNOR curated interactions for NCKAP1 Gene

Drugs & Compounds for NCKAP1 Gene

No Compound Related Data Available

Transcripts for NCKAP1 Gene

Unigene Clusters for NCKAP1 Gene

NCK-associated protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NCKAP1 Gene

No ASD Table

Relevant External Links for NCKAP1 Gene

GeneLoc Exon Structure for
NCKAP1
ECgene alternative splicing isoforms for
NCKAP1

Expression for NCKAP1 Gene

mRNA expression in normal human tissues for NCKAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NCKAP1 Gene

This gene is overexpressed in Frontal cortex (7.7) and Brain (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NCKAP1 Gene



SOURCE GeneReport for Unigene cluster for NCKAP1 Gene Hs.603732

mRNA Expression by UniProt/SwissProt for NCKAP1 Gene

Q9Y2A7-NCKP1_HUMAN
Tissue specificity: Expressed in all tissues examined except peripheral blood leukocytes, with highest expression in brain, heart, and skeletal muscle.
genes like me logo Genes that share expression patterns with NCKAP1: view

Protein tissue co-expression partners for NCKAP1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for NCKAP1 Gene

Orthologs for NCKAP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NCKAP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC101907541 35
  • 95.25 (n)
  • 99.55 (a)
NCKAP1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NCKAP1 35
  • 94.91 (n)
  • 99.64 (a)
NCKAP1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nckap1 35
  • 91.28 (n)
  • 99.38 (a)
Nckap1 16
Nckap1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NCKAP1 35
  • 99.71 (n)
  • 100 (a)
NCKAP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nckap1 35
  • 90.96 (n)
  • 99.29 (a)
oppossum
(Monodelphis domestica)
Mammalia NCKAP1 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCKAP1 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCKAP1 35
  • 87.1 (n)
  • 99.29 (a)
NCKAP1 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NCKAP1 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nckap1 35
  • 83.39 (n)
  • 97.88 (a)
Str.10906 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.23848 35
zebrafish
(Danio rerio)
Actinopterygii nckap1 35
  • 77.79 (n)
  • 96.26 (a)
nckap1 36
  • 96 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hem 37
  • 59 (a)
Hem 35
  • 58.39 (n)
  • 60.43 (a)
Hem 36
  • 60 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004946 35
  • 56.96 (n)
  • 61.5 (a)
worm
(Caenorhabditis elegans)
Secernentea gex-3 35
  • 50.59 (n)
  • 42.31 (a)
gex-3 36
  • 40 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GRL 35
  • 39.53 (n)
  • 25.49 (a)
rice
(Oryza sativa)
Liliopsida Os08g0544500 35
  • 41.04 (n)
  • 25.73 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9782 36
  • 59 (a)
OneToMany
Species with no ortholog for NCKAP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 NCKAP1 Gene

ENSEMBL:
Gene Tree for NCKAP1 (if available)
TreeFam:
Gene Tree for NCKAP1 (if available)

Paralogs for NCKAP1 Gene

Paralogs for NCKAP1 Gene

(1) SIMAP similar genes for NCKAP1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for NCKAP1 Gene

genes like me logo Genes that share paralogs with NCKAP1: view

Variants for NCKAP1 Gene

Sequence variations from dbSNP and Humsavar for NCKAP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1801817 -- 182,925,129(-) CAAAA(C/T)TCTAA utr-variant-3-prime
rs1801818 -- 182,925,805(-) AGAAT(C/T)TCCAT reference, missense
rs908437 -- 183,023,250(+) CTGAA(C/T)ATGAC intron-variant
rs959675 -- 182,968,690(-) tattt(C/T)tgcta intron-variant
rs963107 -- 183,004,354(-) CCTAA(C/T)GTTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NCKAP1 Gene

Variant ID Type Subtype PubMed ID
dgv1276e1 CNV Complex 17122850
nsv818096 CNV Gain 17921354
nsv875485 CNV Gain 21882294
esv8239 CNV Gain 19470904

Variation tolerance for NCKAP1 Gene

Residual Variation Intolerance Score: 2.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NCKAP1 Gene

Human Gene Mutation Database (HGMD)
NCKAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCKAP1 Gene

Disorders for NCKAP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NCKAP1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
nance-horan syndrome
  • neonatal hemochromatosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NCKAP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NCKAP1
genes like me logo Genes that share disorders with NCKAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NCKAP1 Gene

Publications for NCKAP1 Gene

  1. Molecular cloning of a novel apoptosis-related gene, human Nap1 (NCKAP1), and its possible relation to Alzheimer disease. (PMID: 10673335) Suzuki T. … Sakaki Y. (Genomics 2000) 2 3 4 23 67
  2. Abi1 is essential for the formation and activation of a WAVE2 signalling complex. (PMID: 15048123) Innocenti M. … Scita G. (Nat. Cell Biol. 2004) 3 23
  3. Mechanism of regulation of WAVE1-induced actin nucleation by Rac1 and Nck. (PMID: 12181570) Eden S. … Kirschner M.W. (Nature 2002) 2 3
  4. Isolation of hNap1BP which interacts with human Nap 1 (NCKAP1) whose expression is down-regulated in Alzheimer's disease. (PMID: 11418237) Yamamoto A. … Sakaki Y. (Gene 2001) 3 23
  5. A novel ligand for an SH3 domain of the adaptor protein Nck bears an SH2 domain and nuclear signaling motifs. (PMID: 9344857) Matuoka K. … Takenawa T. (Biochem. Biophys. Res. Commun. 1997) 2 3

Products for NCKAP1 Gene

Sources for NCKAP1 Gene

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