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Aliases for NCKAP1 Gene

Aliases for NCKAP1 Gene

  • NCK Associated Protein 1 2 3 5
  • Membrane-Associated Protein HEM-2 3 4
  • P125Nap1 3 4
  • NAP1 3 4
  • HEM2 3 4
  • Nck-Associated Protein 1 3
  • 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 cytoskeleton and E-cadherin signaling in the nascent adherens junction. 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. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes.

Gene Wiki entry for NCKAP1 Gene

Additional gene information for NCKAP1 Gene

No data available for Entrez Gene Summary , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H182714 1.1 ENCODE 13.1 +322.2 322191 3 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 NCKAP1 NUP35 PDE1A FRZB DNAJC10 GC02P182762
GH02H183078 1.1 ENCODE 11.3 -40.2 -40244 1 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS NFYC REST NCKAP1 NUP35 ENSG00000224643 DUSP19 FRZB
GH02H183034 1.1 ENCODE 5.3 +1.7 1691 4 HDGF PKNOX1 ZFP64 ARID4B SIN3A YY1 ZNF766 ZNF143 FOS SP3 NUP35 DNAJC10 FRZB NCKAP1 ENSG00000202141 GC02M183023
GH02H183059 1.1 Ensembl ENCODE 4.9 -21.5 -21534 2 FOXA2 ZNF766 FOS ZNF592 MAFF SMARCA4 IKZF1 KDM1A HNF4A SOX13 FRZB NCKAP1 GC02P183062
GH02H182914 0.9 ENCODE 4.7 +123.2 123234 2 PKNOX1 INSM2 KLF17 FEZF1 ZEB1 ZNF366 ZSCAN5C FOS ZNF362 CEBPB FRZB NCKAP1 GC02M182883 ENSG00000202141 GC02M183023
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000127366 1158 3400 HDGF PKNOX1 ZFP64 ARID4B SIN3A YY1 ZNF766 ZNF143 FOS SP3

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 heterodimer 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

Post-translational modifications for NCKAP1 Gene

  • Ubiquitination at posLast=5858 and posLast=895895
  • Modification sites at PhosphoSitePlus

Other Protein References for NCKAP1 Gene

No data available for DME Specific Peptides for NCKAP1 Gene

Domains & Families for NCKAP1 Gene

Gene Families for NCKAP1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

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. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes.

Gene Ontology (GO) - Molecular Function for NCKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11418237
GO:0032403 protein complex binding IDA 18560548
GO:0048365 contributes_to Rac GTPase binding IDA 21107423
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

CRISPR Products

miRNA for NCKAP1 Gene

miRTarBase miRNAs that target NCKAP1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NCKAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 UniProtKB:P28660}.

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 NCKAP1 gene
Compartment Confidence
extracellular 5
cytosol 5
cytoskeleton 4
plasma membrane 3
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NCKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005925 focal adhesion IDA 21423176
GO:0016020 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:0006915 apoptotic process TAS 10673335
GO:0007417 central nervous system development TAS 10673335
GO:0010592 positive regulation of lamellipodium assembly ISS --
GO:0016032 viral process IEA --
GO:0016601 Rac protein signal transduction IDA 21107423
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NCKAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NCKAP1 Gene



Protein tissue co-expression partners for NCKAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NCKAP1 Gene:

NCKAP1

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.

Evidence on tissue expression from TISSUES for NCKAP1 Gene

  • Nervous system(5)
  • Lung(2.7)
  • Intestine(2.5)
  • Kidney(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with NCKAP1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 NCKAP1 34
  • 100 (a)
OneToOne
LOC101907541 33
  • 95.25 (n)
oppossum
(Monodelphis domestica)
Mammalia NCKAP1 34
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCKAP1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NCKAP1 34 33
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NCKAP1 34 33
  • 94.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nckap1 16 34 33
  • 91.28 (n)
rat
(Rattus norvegicus)
Mammalia Nckap1 33
  • 90.96 (n)
chicken
(Gallus gallus)
Aves NCKAP1 33 34
  • 87.1 (n)
lizard
(Anolis carolinensis)
Reptilia NCKAP1 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nckap1 33
  • 83.39 (n)
Str.10906 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23848 33
zebrafish
(Danio rerio)
Actinopterygii nckap1 34 33
  • 77.79 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hem 33 34 35
  • 58.39 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004946 33
  • 56.96 (n)
worm
(Caenorhabditis elegans)
Secernentea gex-3 33 34
  • 50.59 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GRL 33
  • 39.53 (n)
rice
(Oryza sativa)
Liliopsida Os08g0544500 33
  • 41.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9782 34
  • 59 (a)
OneToMany
Species where no ortholog for NCKAP1 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)
  • 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
rs1000044371 -- 183,029,061(+) GCAGT(A/G)AGCCA intron-variant
rs1000044501 -- 183,039,980(+) CTAGA(A/C/T)GCAGA upstream-variant-2KB
rs1000070091 -- 183,007,757(+) AGAGT(C/G)CACTG intron-variant
rs1000106673 -- 182,998,024(+) TCCAC(A/G)TAAGC intron-variant
rs1000140230 -- 183,012,972(+) AATTA(C/T)TGCCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2759104 CNV gain 17122850
esv3593576 CNV gain 21293372
esv3593577 CNV gain 21293372
esv3893517 CNV gain+loss 25118596
esv8239 CNV gain 19470904
nsv1009882 CNV gain 25217958
nsv477665 CNV novel sequence insertion 20440878
nsv818096 CNV gain 17921354

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD and GeneCards

Disorder Aliases PubMed IDs
nance-horan syndrome
  • cataract dental syndrome
- 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 22 60
  2. Structure and control of the actin regulatory WAVE complex. (PMID: 21107423) Chen Z … Rosen MK (Nature 2010) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. 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 60
  5. Abi1 is essential for the formation and activation of a WAVE2 signalling complex. (PMID: 15048123) Innocenti M … Scita G (Nature cell biology 2004) 3 22 60

Products for NCKAP1 Gene

Sources for NCKAP1 Gene

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