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    AFTPH aftiphilin [ Homo sapiens (human) ]

    Gene ID: 54812, updated on 17-Jun-2019

    Summary

    Official Symbol
    AFTPHprovided by HGNC
    Official Full Name
    aftiphilinprovided by HGNC
    Primary source
    HGNC:HGNC:25951
    See related
    Ensembl:ENSG00000119844
    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
    Nbla10388
    Expression
    Ubiquitous expression in kidney (RPKM 20.9), prostate (RPKM 17.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See AFTPH in Genome Data Viewer
    Location:
    2p14
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (64524305..64593005)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (64751439..64820139)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1805 Neighboring gene uncharacterized LOC105374773 Neighboring gene uncharacterized LOC101927402 Neighboring gene microRNA 4434 Neighboring gene uncharacterized LOC105374772 Neighboring gene RNA, U6 small nuclear 100, pseudogene Neighboring gene long intergenic non-protein coding RNA 2579 Neighboring gene uncharacterized LOC105374775 Neighboring gene SERTA domain containing 2

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20080, FLJ23793, MGC33965

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    clathrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    AP-1 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    AP-1 adaptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    aftiphilin
    Names
    aftiphilin protein

    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_001002243.3NP_001002243.1  aftiphilin isoform c

      See identical proteins and their annotated locations for NP_001002243.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform c) is shorter than isoform a by 1 amino acid.
      Source sequence(s)
      AK024658, BC022247, BC047529, DA227019
      UniProtKB/Swiss-Prot
      Q6ULP2
      Conserved Domains (1) summary
      pfam15045
      Location:700768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    2. NM_017657.5NP_060127.3  aftiphilin isoform b

      See identical proteins and their annotated locations for NP_060127.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform b) is shorter when compared to isoform a.
      Source sequence(s)
      AK024658, AK222821, DA815479
      Consensus CDS
      CCDS1878.1
      UniProtKB/Swiss-Prot
      Q6ULP2
      UniProtKB/TrEMBL
      Q53GW0
      Related
      ENSP00000238856.4, ENST00000238856.8
      Conserved Domains (1) summary
      pfam15045
      Location:700768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    3. NM_203437.3NP_982261.2  aftiphilin isoform a

      See identical proteins and their annotated locations for NP_982261.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform a).
      Source sequence(s)
      AA583062, AK024658, AY367088, BC047529, DA227019, DA815479
      Consensus CDS
      CCDS46303.1
      UniProtKB/Swiss-Prot
      Q6ULP2
      Related
      ENSP00000238855.7, ENST00000238855.11
      Conserved Domains (1) summary
      pfam15045
      Location:700768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    RefSeqs of Annotated Genomes: Homo sapiens 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
      64524305..64593005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264380.2XP_005264437.1  aftiphilin isoform X1

      See identical proteins and their annotated locations for XP_005264437.1

      UniProtKB/Swiss-Prot
      Q6ULP2
      Conserved Domains (1) summary
      pfam15045
      Location:700768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    RNA

    1. XR_244940.4 RNA Sequence

    2. XR_244941.4 RNA Sequence

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