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NCKAP1 NCK associated protein 1 [ Homo sapiens (human) ]

Gene ID: 10787, updated on 5-Sep-2021

Summary

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Official Symbol
NCKAP1provided by HGNC
Official Full Name
NCK associated protein 1provided by HGNC
Primary source
HGNC:HGNC:7666
See related
Ensembl:ENSG00000061676 MIM:604891
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEM2; NAP1; NAP125; p125Nap1
Expression
Ubiquitous expression in thyroid (RPKM 62.7), brain (RPKM 61.6) and 24 other tissues See more
Orthologs
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Genomic context

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See NCKAP1 in Genome Data Viewer
Location:
2q32.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (182909115..183038457, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (183773843..183903185, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene frizzled related protein Neighboring gene RNA, U6 small nuclear 1122, pseudogene Neighboring gene keratin 8 pseudogene 10 Neighboring gene dual specificity phosphatase 19

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. Guo H, et al. Am J Hum Genet, 2020 Nov 5. PMID 33157009, Free PMC Article
  2. NCKAP1 improves patient outcome and inhibits cell growth by enhancing Rb1/p53 activation in hepatocellular carcinoma. Zhong XP, et al. Cell Death Dis, 2019 May 8. PMID 31068575, Free PMC Article
  3. Nck-associated protein 1 associates with HSP90 to drive metastasis in human non-small-cell lung cancer. Xiong Y, et al. J Exp Clin Cancer Res, 2019 Mar 11. PMID 30867003, Free PMC Article
  4. Expanding the genetic heterogeneity of intellectual disability. Anazi S, et al. Hum Genet, 2017 Nov. PMID 28940097
  5. Molecular cloning of a novel apoptosis-related gene, human Nap1 (NCKAP1), and its possible relation to Alzheimer disease. Suzuki T, et al. Genomics, 2000 Jan 15. PMID 10673335

See all (83) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
    Title: NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
  2. NCKAP1 is a tumor suppress gene that modulates the cell cycle of HCC cell lines by targeting Rb1/p53 regulation.
    Title: NCKAP1 improves patient outcome and inhibits cell growth by enhancing Rb1/p53 activation in hepatocellular carcinoma.
  3. Results demonstrate the importance and functional regulation of the HSP90-NAP1 protein complex in cancer metastatic signaling.
    Title: Nck-associated protein 1 associates with HSP90 to drive metastasis in human non-small-cell lung cancer.
  4. we show that stapled peptides targeting the interface between NCKAP1 and CYFIP1 destabilize the WASF3 complex... thereby suppressing invasion and metastasis of breast cancer cells.
    Title: The WASF3-NCKAP1-CYFIP1 Complex Is Essential for Breast Cancer Metastasis.
  5. We identify three mosaic missense and likely-gene disrupting mutations in genes previously implicated in ASD (KMT2C, NCKAP1, and MYH10) in probands but none in siblings. We find a strong ascertainment bias for mosaic mutations in probands relative to their unaffected siblings
    Title: The Contribution of Mosaic Variants to Autism Spectrum Disorder.
  6. miR-34c-3p functions as a tumor promoter by targeting NCKAP1 that is associated with prognosis in hepatocellular carcinoma.
    Title: MicroRNA-34c-3p promotes cell proliferation and invasion in hepatocellular carcinoma by regulation of NCKAP1 expression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2017-12-27)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2017-12-27)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of NCK-associated protein 1 (NCKAP1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Upregulation of apoptosis genes such as NCK-associated protein 1, PTB domain adaptor protein CED-6, and TNF receptor superfamily 5 are induced by HIV-1 gp120 in human neurons PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC8981, FLJ11291, KIAA0587

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
contributes_to small GTPase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in Rac protein signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in apoptotic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in cell projection assembly IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in central nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in cortical actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in neuron projection morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of Arp2/3 complex-mediated actin nucleation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of lamellipodium assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of lamellipodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of SCAR complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
part_of SCAR complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
part_of filamentous actin ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in focal adhesion HDA PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in lamellipodium membrane IEA
Inferred from Electronic Annotation
more info
  
located_in ruffle ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
nck-associated protein 1
Names
membrane-associated protein HEM-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013436.5 → NP_038464.1  nck-associated protein 1 isoform 1

    See identical proteins and their annotated locations for NP_038464.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AB011159, AC108514, BC015025, CA314471
    Consensus CDS
    CCDS2287.1
    UniProtKB/Swiss-Prot
    Q9Y2A7
    Related
    ENSP00000355348.3, ENST00000361354.9
    Conserved Domains (1) summary
    pfam09735
    Location:13 → 1122
    Nckap1; Membrane-associated apoptosis protein

  2. NM_205842.3 → NP_995314.1  nck-associated protein 1 isoform 2

    See identical proteins and their annotated locations for NP_995314.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB011159, AC108514, BC015025, CA314471
    Consensus CDS
    CCDS2288.1
    UniProtKB/Swiss-Prot
    Q9Y2A7
    Related
    ENSP00000354251.2, ENST00000360982.2
    Conserved Domains (1) summary
    pfam09735
    Location:13 → 1128
    Nckap1; Membrane-associated apoptosis protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    182909115..183038457 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712201.3 → XP_006712264.1  nck-associated protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006712264.1

    Conserved Domains (1) summary
    pfam09735
    Location:13 → 1120
    Nckap1; Membrane-associated apoptosis protein

  2. XM_006712200.3 → XP_006712263.1  nck-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006712263.1

    Conserved Domains (1) summary
    pfam09735
    Location:13 → 1126
    Nckap1; Membrane-associated apoptosis protein
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2A7.1 GenPept UniProtKB/Swiss-Prot:Q9Y2A7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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