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

    Gene ID: 10787, updated on 17-Jun-2024

    Summary

    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; AllianceGenome:HGNC:7666
    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
    Summary
    Contributes to small GTPase binding activity. Involved in Rac protein signal transduction; positive regulation of Arp2/3 complex-mediated actin nucleation; and positive regulation of lamellipodium assembly. Located in extracellular exosome and focal adhesion. Part of SCAR complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 62.7), brain (RPKM 61.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NCKAP1 in Genome Data Viewer
    Location:
    2q32.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (182909115..183038457, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (183398094..183527479, complement)
    105.20220307 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 uncharacterized LOC124907916 Neighboring gene frizzled related protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:183730528-183731496 Neighboring gene RNA, U6 small nuclear 1122, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:183771671-183772172 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:183814331-183814830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12162 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:183903107-183903758 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:183913521-183914486 Neighboring gene NANOG hESC enhancer GRCh37_chr2:183915026-183915527 Neighboring gene small nucleolar RNA SNORA77 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:183934151-183934652 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:183935853-183936421 Neighboring gene keratin 8 pseudogene 10

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell projection assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    involved_in neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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 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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_013436.5NP_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
      O60329, Q53QN5, Q53S94, Q53Y35, Q9Y2A7
      Related
      ENSP00000355348.3, ENST00000361354.9
      Conserved Domains (1) summary
      pfam09735
      Location:131122
      Nckap1; Membrane-associated apoptosis protein
    2. NM_205842.3NP_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:131128
      Nckap1; Membrane-associated apoptosis protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_006712201.4XP_006712264.1  nck-associated protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006712264.1

      UniProtKB/TrEMBL
      A0A994J4I5
      Related
      ENSP00000515490.1, ENST00000703825.1
      Conserved Domains (1) summary
      pfam09735
      Location:131120
      Nckap1; Membrane-associated apoptosis protein
    2. XM_006712200.4XP_006712263.1  nck-associated protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006712263.1

      UniProtKB/TrEMBL
      A0A994J6K9
      Related
      ENSP00000515489.1, ENST00000703824.1
      Conserved Domains (1) summary
      pfam09735
      Location:131126
      Nckap1; Membrane-associated apoptosis protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      183398094..183527479 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340221.1XP_054196196.1  nck-associated protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A994J4I5
    2. XM_054340220.1XP_054196195.1  nck-associated protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A994J6K9