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

Gene ID: 10787, updated on 24-May-2020

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
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

Genomic context

See NCKAP1 in Genome Data Viewer
Location:
2q32.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (182909115..183038457, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (183789579..183903586, 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

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

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

Homology

Clone Names

  • MGC8981, FLJ11291, KIAA0587

Gene Ontology Provided by GOA

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

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
    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: Homo sapiens Updated Annotation Release 109.

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_006712201.3XP_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:131120
    Nckap1; Membrane-associated apoptosis protein
  2. XM_006712200.3XP_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:131126
    Nckap1; Membrane-associated apoptosis protein
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