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    Necap1 NECAP endocytosis associated 1 [ Mus musculus (house mouse) ]

    Gene ID: 67602, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Necap1provided by MGI
    Official Full Name
    NECAP endocytosis associated 1provided by MGI
    Primary source
    MGI:MGI:1914852
    See related
    Ensembl:ENSMUSG00000030327 AllianceGenome:MGI:1914852
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1200016B17Rik
    Summary
    Involved in endocytosis. Located in clathrin-coated pit. Part of clathrin vesicle coat. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 21. Orthologous to human NECAP1 (NECAP endocytosis associated 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 44.7), CNS E18 (RPKM 35.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Necap1 in Genome Data Viewer
    Location:
    6 F2; 6 57.96 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (122851516..122865902)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (122874557..122888943)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene forkhead box J2 Neighboring gene microRNA 7231 Neighboring gene STARR-seq mESC enhancer starr_17260 Neighboring gene complement component 3a receptor 1 Neighboring gene STARR-positive B cell enhancer ABC_E2206 Neighboring gene STARR-positive B cell enhancer ABC_E687 Neighboring gene predicted gene 5316 Neighboring gene C-type lectin domain family 4, member a1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Two WXXF-based motifs in NECAPs define the specificity of accessory protein binding to AP-1 and AP-2. Ritter B, et al. EMBO J, 2004 Oct 1. PMID 15359277, Free PMC Article
    2. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. Alazami AM, et al. J Med Genet, 2014 Apr. PMID 24399846
    3. NECAP 1 regulates AP-2 interactions to control vesicle size, number, and cargo during clathrin-mediated endocytosis. Ritter B, et al. PLoS Biol, 2013 Oct. PMID 24130457, Free PMC Article
    4. Identification of a family of endocytic proteins that define a new alpha-adaptin ear-binding motif. Ritter B, et al. EMBO Rep, 2003 Nov. PMID 14555962, Free PMC Article
    5. Definition of the consensus motif recognized by gamma-adaptin ear domains. Mattera R, et al. J Biol Chem, 2004 Feb 27. PMID 14665628

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NECAP1 mutation links trafficking pathway in early infantile epileptic encephalopathy.
      Title: NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00061

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in presynaptic endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of clathrin vesicle coat IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of clathrin vesicle coat IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in presynapse ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    adaptin ear-binding coat-associated protein 1
    Names
    NECAP endocytosis-associated protein 1
    brain enriched NECAP2 similar protein
    clathrin-coated vesicle coat protein
    snoRNA MBI-129

    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_026267.3 → NP_080543.2  adaptin ear-binding coat-associated protein 1

      See identical proteins and their annotated locations for NP_080543.2

      Status: VALIDATED

      Source sequence(s)
      AK004805, AW046891
      Consensus CDS
      CCDS20505.1
      UniProtKB/Swiss-Prot
      Q3TH13, Q78JW3, Q8C4P1, Q9CR95
      UniProtKB/TrEMBL
      Q0VB06, Q571F3
      Related
      ENSMUSP00000032477.5, ENSMUST00000032477.6
      Conserved Domains (2) summary
      pfam07933
      Location:7 → 164
      DUF1681; Protein of unknown function (DUF1681)
      cl26247
      Location:161 → 275
      DNA_pol3_delta2; DNA polymerase III, delta subunit

    RNA

    1. NR_156733.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC123874

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      122851516..122865902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CR95.2 GenPept UniProtKB/Swiss-Prot:Q9CR95

    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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