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    AFTPH aftiphilin [ Homo sapiens (human) ]

    Gene ID: 54812, updated on 27-Nov-2024

    Summary

    Official Symbol
    AFTPHprovided by HGNC
    Official Full Name
    aftiphilinprovided by HGNC
    Primary source
    HGNC:HGNC:25951
    See related
    Ensembl:ENSG00000119844 MIM:619628; AllianceGenome:HGNC:25951
    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
    Summary
    Enables clathrin binding activity. Predicted to be involved in intracellular transport. Located in Golgi apparatus; cytosol; and nucleoplasm. Part of AP-1 adaptor complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 20.9), prostate (RPKM 17.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AFTPH in Genome Data Viewer
    Location:
    2p14
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (64524328..64593005)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (64533766..64602433)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (64751462..64820139)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8770 Neighboring gene long intergenic non-protein coding RNA 1805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15893 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:64751340-64751840 and GRCh37_chr2:64751841-64752341 Neighboring gene AFTPH divergent transcript Neighboring gene microRNA 4434 Neighboring gene uncharacterized LOC105374773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15894 Neighboring gene RNA, U6 small nuclear 100, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:64833199-64834398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:64834681-64835182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:64835183-64835682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11558 Neighboring gene long intergenic non-protein coding RNA 2579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15897 Neighboring gene uncharacterized LOC105374775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:64869352-64870135 Neighboring gene SERTA domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:64870919-64871702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15901 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:64872345-64872515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11559

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20080, FLJ23793, MGC33965

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables clathrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of AP-1 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of AP-1 adaptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    aftiphilin
    Names
    aftiphilin protein

    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_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/TrEMBL
      Q53GW0
      Conserved Domains (1) summary
      pfam15045
      Location:700768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    2. NM_001375969.1NP_001362898.1  aftiphilin isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (d).
      Source sequence(s)
      AC008074
      Consensus CDS
      CCDS92767.1
      UniProtKB/TrEMBL
      A0A8Q3SIA4, Q53GW0
      Related
      ENSP00000512232.1, ENST00000695867.1
      Conserved Domains (1) summary
      pfam15045
      Location:700768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    3. NM_001375970.1NP_001362899.1  aftiphilin isoform e

      Status: VALIDATED

      Source sequence(s)
      AC008074
      Consensus CDS
      CCDS92768.1
      UniProtKB/TrEMBL
      A0A8Q3WM48, Q53GW0
      Related
      ENSP00000512231.1, ENST00000695866.1
      Conserved Domains (1) summary
      pfam15045
      Location:700768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    4. NM_001375971.1NP_001362900.1  aftiphilin isoform f

      Status: VALIDATED

      Source sequence(s)
      AC008074
      Consensus CDS
      CCDS92769.1
      UniProtKB/TrEMBL
      Q53GW0
      Related
      ENSP00000512229.1, ENST00000695864.1
      Conserved Domains (1) summary
      pfam15045
      Location:700768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    5. NM_001375972.1NP_001362901.1  aftiphilin isoform g

      Status: VALIDATED

      Source sequence(s)
      AC008074
      Consensus CDS
      CCDS92770.1
      UniProtKB/TrEMBL
      A0A8Q3WKU6, Q53GW0
      Related
      ENSP00000512230.1, ENST00000695865.1
      Conserved Domains (1) summary
      pfam15045
      Location:700761
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    6. NM_001375973.1NP_001362902.1  aftiphilin isoform h

      Status: VALIDATED

      Source sequence(s)
      AC008074
      Consensus CDS
      CCDS92771.1
      UniProtKB/TrEMBL
      A0A8Q3SI61, Q53GW0
      Related
      ENSP00000512233.1, ENST00000695869.1
    7. NM_001394995.1NP_001381924.1  aftiphilin isoform i

      Status: VALIDATED

      Source sequence(s)
      AC008074
      UniProtKB/TrEMBL
      Q53GW0
    8. NM_001394996.1NP_001381925.1  aftiphilin isoform j

      Status: VALIDATED

      Source sequence(s)
      AC008074
      UniProtKB/TrEMBL
      Q53GW0
    9. 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/TrEMBL
      Q53GW0
      Related
      ENSP00000238856.4, ENST00000238856.8
      Conserved Domains (1) summary
      pfam15045
      Location:700768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    10. NM_203437.4NP_982261.2  aftiphilin isoform a

      See identical proteins and their annotated locations for NP_982261.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AA583062, AK024658, AY367088, BC047529, DA227019
      Consensus CDS
      CCDS46303.1
      UniProtKB/Swiss-Prot
      D6W5E9, Q6ULP2, Q6ZM66, Q86VW3, Q8TCF3, Q9H7E3, Q9HAB9, Q9NXS4
      UniProtKB/TrEMBL
      Q53GW0
      Related
      ENSP00000387071.1, ENST00000409933.6
      Conserved Domains (1) summary
      pfam15045
      Location:700768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    RNA

    1. NR_164746.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008074
    2. NR_164747.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008074
    3. NR_172363.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008074

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      64524328..64593005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      64533766..64602433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)