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Aliases for NCKAP1L Gene

Aliases for NCKAP1L Gene

  • NCK Associated Protein 1 Like 2 3 5
  • Hematopoietic Protein 1 2 3 4
  • HEM1 3 4
  • Membrane-Associated Protein Hem-1 3
  • Membrane-Associated Protein HEM-1 4
  • Nck-Associated Protein 1-Like 3

External Ids for NCKAP1L Gene

Previous HGNC Symbols for NCKAP1L Gene

  • HEM1

Previous GeneCards Identifiers for NCKAP1L Gene

  • GC12P053178
  • GC12P054891
  • GC12P051930

Summaries for NCKAP1L Gene

Entrez Gene Summary for NCKAP1L Gene

  • This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]

GeneCards Summary for NCKAP1L Gene

NCKAP1L (NCK Associated Protein 1 Like) is a Protein Coding gene. Among its related pathways are Innate Immune System and RET signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein complex binding. An important paralog of this gene is NCKAP1.

UniProtKB/Swiss-Prot for NCKAP1L Gene

  • Essential hematopoietic-specific regulator of the actin cytoskeleton (Probable). Controls lymphocyte development, activation, proliferation and homeostasis, erythrocyte membrane stability, as well as phagocytosis and migration by neutrophils and macrophages (PubMed:16417406, PubMed:17696648). Component of the WAVE2 complex which signals downstream of RAC to stimulate F-actin polymerization. Required for stabilization and/or translation of the WAVE2 complex proteins in hematopoietic cells (By similarity). Exhibits complex cycles of activation and inhibition to generate waves of propagating the assembly with actin (PubMed:16417406). Also involved in mechanisms WAVE-independent to regulate myosin and actin polymerization during neutrophil chemotaxis (PubMed:17696648).

Additional gene information for NCKAP1L Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCKAP1L Gene

Genomics for NCKAP1L Gene

GeneHancer (GH) Regulatory Elements for NCKAP1L Gene

Promoters and enhancers for NCKAP1L 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
GH12I054497 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.3 308 2 HDGF PKNOX1 ARNT ZNF121 ZNF143 FOS ATF7 RUNX3 REST ZNF623 NCKAP1L PHC1P1 MAP3K12 CBX5 ENSG00000258344 ENSG00000257824 LOC102724050
GH12I054439 Enhancer 1.1 Ensembl ENCODE dbSUPER 11 -57.9 -57915 1 CTCF ARNT TEAD4 MAX ZNF384 EBF1 RAD21 RFX5 CC2D1A ARID2 GTSF1 ITGA5 ZNF385A GPR84 NCKAP1L RNU6-950P COPZ1 LINC01154 GC12P054401 ENSG00000258086
GH12I054407 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4 -81.9 -81923 16.8 HDGF PKNOX1 SMAD1 SIN3A YBX1 YY1 POLR2B FOS SP3 REST ITGA5 GPR84 ZNF385A GTSF1 PHC1P1 MAP3K12 ENSG00000260470 CALCOCO1 NCKAP1L GC12P054401
GH12I054354 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.1 -139.7 -139709 6.6 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 MCM3 SP3 NFYC SP1 PCBP2 ENSG00000258344 CBX5 GPR84 ZNF385A MAP3K12 ATF7 LOC100652999 HNRNPA1
GH12I054392 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.7 -104.0 -104026 2 HDAC1 ARNT SIN3A RAD21 CBX5 ZNF143 RUNX3 SMARCA5 ZNF654 NCOA1 GPR84 GTSF1 ITGA5 ZNF385A MIR148B HNRNPA1 RNU6-950P COPZ1 TARBP2 NCKAP1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NCKAP1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NCKAP1L gene promoter:

Genomic Locations for NCKAP1L Gene

Genomic Locations for NCKAP1L Gene
chr12:54,497,711-54,548,238
(GRCh38/hg38)
Size:
50,528 bases
Orientation:
Plus strand
chr12:54,891,495-54,937,726
(GRCh37/hg19)

Genomic View for NCKAP1L Gene

Genes around NCKAP1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCKAP1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCKAP1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCKAP1L Gene

Proteins for NCKAP1L Gene

  • Protein details for NCKAP1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55160-NCKPL_HUMAN
    Recommended name:
    Nck-associated protein 1-like
    Protein Accession:
    P55160
    Secondary Accessions:
    • B4DUT5
    • Q52LW0

    Protein attributes for NCKAP1L Gene

    Size:
    1127 amino acids
    Molecular mass:
    128153 Da
    Quaternary structure:
    • In hematopoietic cells, component of the WAVE2 complex composed of ABI1, CYFIP1/SRA1, NCKAP1L/HEM1 and WASF2/WAVE2 (PubMed:16417406). Interacts with ARHGAP4, PIK3C3/VPS34 and PPP1R12A/MYPT1 (PubMed:16417406).
    SequenceCaution:
    • Sequence=AAA35964.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NCKAP1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCKAP1L Gene

Post-translational modifications for NCKAP1L Gene

  • Ubiquitination at Lys40, Lys42, isoforms=49, Lys60, isoforms=2326, and Lys349

Other Protein References for NCKAP1L Gene

No data available for DME Specific Peptides for NCKAP1L Gene

Domains & Families for NCKAP1L Gene

Gene Families for NCKAP1L Gene

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

Protein Domains for NCKAP1L Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P55160

UniProtKB/Swiss-Prot:

NCKPL_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 NCKAP1L: view

Function for NCKAP1L Gene

Molecular function for NCKAP1L Gene

UniProtKB/Swiss-Prot Function:
Essential hematopoietic-specific regulator of the actin cytoskeleton (Probable). Controls lymphocyte development, activation, proliferation and homeostasis, erythrocyte membrane stability, as well as phagocytosis and migration by neutrophils and macrophages (PubMed:16417406, PubMed:17696648). Component of the WAVE2 complex which signals downstream of RAC to stimulate F-actin polymerization. Required for stabilization and/or translation of the WAVE2 complex proteins in hematopoietic cells (By similarity). Exhibits complex cycles of activation and inhibition to generate waves of propagating the assembly with actin (PubMed:16417406). Also involved in mechanisms WAVE-independent to regulate myosin and actin polymerization during neutrophil chemotaxis (PubMed:17696648).

Phenotypes From GWAS Catalog for NCKAP1L Gene

Gene Ontology (GO) - Molecular Function for NCKAP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IMP 16417406
GO:0005515 protein binding IPI 16417406
GO:0030295 protein kinase activator activity IMP 16417406
GO:0032403 protein complex binding IDA 16417406
genes like me logo Genes that share ontologies with NCKAP1L: view
genes like me logo Genes that share phenotypes with NCKAP1L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NCKAP1L Gene

Localization for NCKAP1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCKAP1L Gene

Cell membrane; Single-pass membrane protein; Cytoplasmic side. Cytoplasm. Note=Localizes to the leading edge of polarized neutrophils. {ECO:0000269 PubMed:16417406, ECO:0000269 PubMed:17696648}.

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 NCKAP1L gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NCKAP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 1932118
GO:0016020 membrane TAS,HDA 19946888
genes like me logo Genes that share ontologies with NCKAP1L: view

Pathways & Interactions for NCKAP1L Gene

genes like me logo Genes that share pathways with NCKAP1L: view

Gene Ontology (GO) - Biological Process for NCKAP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001782 B cell homeostasis ISS --
GO:0002262 myeloid cell homeostasis ISS --
GO:0006461 protein complex assembly ISS --
GO:0006935 chemotaxis IDA 16417406
GO:0030011 maintenance of cell polarity IMP 16417406
genes like me logo Genes that share ontologies with NCKAP1L: view

No data available for SIGNOR curated interactions for NCKAP1L Gene

Drugs & Compounds for NCKAP1L Gene

No Compound Related Data Available

Transcripts for NCKAP1L Gene

Unigene Clusters for NCKAP1L Gene

NCK-associated protein 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NCKAP1L Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for NCKAP1L Gene

GeneLoc Exon Structure for
NCKAP1L
ECgene alternative splicing isoforms for
NCKAP1L

Expression for NCKAP1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NCKAP1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCKAP1L Gene

This gene is overexpressed in Whole Blood (x13.2) and Spleen (x4.3).

Protein differential expression in normal tissues from HIPED for NCKAP1L Gene

This gene is overexpressed in Lymph node (25.4) and Peripheral blood mononuclear cells (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NCKAP1L Gene



Protein tissue co-expression partners for NCKAP1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NCKAP1L Gene:

NCKAP1L

SOURCE GeneReport for Unigene cluster for NCKAP1L Gene:

Hs.182014

mRNA Expression by UniProt/SwissProt for NCKAP1L Gene:

P55160-NCKPL_HUMAN
Tissue specificity: Expressed only in cells of hematopoietic origin (PubMed:7643388, PubMed:1932118). Expressed in neutrophils (at protein level) (PubMed:16417406).

Evidence on tissue expression from TISSUES for NCKAP1L Gene

  • Blood(4.4)
  • Intestine(4.3)
  • Liver(4.2)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with NCKAP1L: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NCKAP1L Gene

Orthologs for NCKAP1L Gene

This gene was present in the common ancestor of animals.

Orthologs for NCKAP1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NCKAP1L 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia NCKAP1L 34 33
  • 91.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NCKAP1L 34 33
  • 91.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nckap1l 33 16 34
  • 89.68 (n)
rat
(Rattus norvegicus)
Mammalia Nckap1l 33
  • 88.99 (n)
oppossum
(Monodelphis domestica)
Mammalia NCKAP1L 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves NCKAP1L 33 34
  • 71.13 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 71 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nckap1l 33
  • 68.63 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:172352 33
  • 64.13 (n)
NCKAP1L 34
  • 60 (a)
OneToOne
Dr.26103 33
fruit fly
(Drosophila melanogaster)
Insecta Hem 34
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gex-3 34
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9782 34
  • 47 (a)
OneToMany
Species where no ortholog for NCKAP1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for NCKAP1L Gene

ENSEMBL:
Gene Tree for NCKAP1L (if available)
TreeFam:
Gene Tree for NCKAP1L (if available)

Paralogs for NCKAP1L Gene

Paralogs for NCKAP1L Gene

(1) SIMAP similar genes for NCKAP1L Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NCKAP1L: view

Variants for NCKAP1L Gene

Sequence variations from dbSNP and Humsavar for NCKAP1L Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000010931 -- 54,528,929(+) C/G/T intron_variant
rs1000018234 -- 54,541,562(+) C/T intron_variant
rs1000076906 -- 54,522,132(+) G/A intron_variant
rs1000138887 -- 54,516,086(+) A/G intron_variant
rs1000205239 -- 54,515,286(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NCKAP1L Gene

Variant ID Type Subtype PubMed ID
esv3391984 CNV insertion 20981092
nsv508674 CNV deletion 20534489
nsv525674 CNV loss 19592680
nsv832421 CNV gain 17160897

Variation tolerance for NCKAP1L Gene

Residual Variation Intolerance Score: 5.97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.31; 70.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NCKAP1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCKAP1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCKAP1L Gene

Disorders for NCKAP1L Gene

Additional Disease Information for NCKAP1L

No disorders were found for NCKAP1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NCKAP1L Gene

Publications for NCKAP1L Gene

  1. Hem-1 complexes are essential for Rac activation, actin polymerization, and myosin regulation during neutrophil chemotaxis. (PMID: 16417406) Weiner OD … Kirschner MW (PLoS biology 2006) 3 4 22 58
  2. Hem-1, a potential membrane protein, with expression restricted to blood cells. (PMID: 1932118) Hromas R … Kaushansky K (Biochimica et biophysica acta 1991) 2 3 4 58
  3. An actin-based wave generator organizes cell motility. (PMID: 17696648) Weiner OD … Kirschner MW (PLoS biology 2007) 3 4 58
  4. The HEM proteins: a novel family of tissue-specific transmembrane proteins expressed from invertebrates through mammals with an essential function in oogenesis. (PMID: 7643388) Baumgartner S … Hromas R (Journal of molecular biology 1995) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for NCKAP1L Gene

Sources for NCKAP1L Gene

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