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    NECAP1 NECAP endocytosis associated 1 [ Homo sapiens (human) ]

    Gene ID: 25977, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NECAP1provided by HGNC
    Official Full Name
    NECAP endocytosis associated 1provided by HGNC
    Primary source
    HGNC:HGNC:24539
    See related
    Ensembl:ENSG00000089818 MIM:611623; AllianceGenome:HGNC:24539
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEE21; EIEE21
    Summary
    This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
    Expression
    Ubiquitous expression in brain (RPKM 49.7), bone marrow (RPKM 34.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NECAP1 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8082274..8097881)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8095874..8111478)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8234870..8250477)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5926 Neighboring gene forkhead box J2 Neighboring gene complement C3a receptor 1 Neighboring gene NANOG hESC enhancer GRCh37_chr12:8229725-8230226 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:8234132-8235331 Neighboring gene C-type lectin domain family 4 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:8286281-8287059 Neighboring gene POU class 5 homeobox 1 pseudogene 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:8294369-8294870 Neighboring gene GCSH pseudogene 4

    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. Molecular mechanisms in clathrin-mediated membrane budding revealed through subcellular proteomics. Ritter B, et al. Biochem Soc Trans, 2004 Nov. PMID 15494011
    2. Characterization of the localization and function of NECAP 1 in neurons. Murshid A, et al. J Neurochem, 2006 Sep. PMID 16879712
    3. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. Alazami AM, et al. J Med Genet, 2014 Apr. PMID 24399846
    4. Temporal Ordering in Endocytic Clathrin-Coated Vesicle Formation via AP2 Phosphorylation. Wrobel AG, et al. Dev Cell, 2019 Aug 19. PMID 31430451, Free PMC Article
    5. Dual engagement regulation of protein interactions with the AP-2 adaptor alpha appendage. Mishra SK, et al. J Biol Chem, 2004 Oct 29. PMID 15292237

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NECAP recruits drivers of late stages of clathrin-coated pit (CCP) formation, including SNX9, via a site distinct from where NECAP binds AP2.
      Title: Temporal Ordering in Endocytic Clathrin-Coated Vesicle Formation via AP2 Phosphorylation.
    2. NECAP1 mutation links trafficking pathway in early infantile epileptic encephalopathy.
      Title: NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 21
    MedGen: C4014430 OMIM: 615833 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC131900, DKFZP566B183

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    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
    		  
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    adaptin ear-binding coat-associated protein 1

    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.

    Genomic

    1. NG_034155.2 RefSeqGene

      Range
      5002..20609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015509.4 → NP_056324.2  adaptin ear-binding coat-associated protein 1

      See identical proteins and their annotated locations for NP_056324.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a functional protein.
      Source sequence(s)
      AC006511
      Consensus CDS
      CCDS8589.1
      UniProtKB/Swiss-Prot
      Q2NL73, Q5XG95, Q6NWY6, Q8N153, Q8NC96, Q8NCB0, Q9BU52, Q9Y407
      UniProtKB/TrEMBL
      A0A1W2PR09
      Related
      ENSP00000341737.5, ENST00000339754.11
      Conserved Domains (2) summary
      pfam07933
      Location:7 → 164
      DUF1681; Protein of unknown function (DUF1681)
      pfam16617
      Location:212 → 272
      INTAP; Intersectin and clathrin adaptor AP2 binding region

    RNA

    1. NR_024260.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC006511
      Related
      ENST00000450991.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      8082274..8097881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      8095874..8111478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NC96.2 GenPept UniProtKB/Swiss-Prot:Q8NC96

    Gene LinkOut

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

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