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    AFTPH aftiphilin [ Homo sapiens (human) ]

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

    Summary

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    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
    mouse all
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    Genomic context

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    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

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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. Expression profiles and prognostic significance of AFTPH in different tumors. Zhu T, et al. FEBS Open Bio, 2020 Dec. PMID 33090728, Free PMC Article
    2. Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells. Lui-Roberts WW, et al. Mol Biol Cell, 2008 Dec. PMID 18815278, Free PMC Article
    3. Aftiphilin is a component of the clathrin machinery in neurons. Burman JL, et al. FEBS Lett, 2005 Apr 11. PMID 15811338
    4. Definition of the consensus motif recognized by gamma-adaptin ear domains. Mattera R, et al. J Biol Chem, 2004 Feb 27. PMID 14665628
    5. The aftiphilin/p200/gamma-synergin complex. Hirst J, et al. Mol Biol Cell, 2005 May. PMID 15758025, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression profiles and prognostic significance of AFTPH in different tumors.
      Title: Expression profiles and prognostic significance of AFTPH in different tumors.
    2. Data show that by recruiting aftiphilin/gamma-synergin in addition to clathrin, AP-1 coordinates formation of Weibel-Palade bodies with their acquisition of a regulated secretory phenotype.
      Title: Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells.
    3. the aftiphilin/p200/gamma-synergin complex facilitates AP-1 function
      Title: The aftiphilin/p200/gamma-synergin complex.
    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

    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

    • 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

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    Preferred Names
    aftiphilin
    Names
    aftiphilin protein

    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_001002243.3 → NP_001002243.1  aftiphilin isoform c

      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:700 → 768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    2. NM_001375969.1 → NP_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:700 → 768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    3. NM_001375970.1 → NP_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:700 → 768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    4. NM_001375971.1 → NP_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:700 → 768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    5. NM_001375972.1 → NP_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:700 → 761
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    6. NM_001375973.1 → NP_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_001394995.1 → NP_001381924.1  aftiphilin isoform i

      Status: VALIDATED

      Source sequence(s)
      AC008074
      UniProtKB/TrEMBL
      Q53GW0

    8. NM_001394996.1 → NP_001381925.1  aftiphilin isoform j

      Status: VALIDATED

      Source sequence(s)
      AC008074
      UniProtKB/TrEMBL
      Q53GW0

    9. NM_017657.5 → NP_060127.3  aftiphilin isoform b

      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:700 → 768
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    10. NM_203437.4 → NP_982261.2  aftiphilin isoform a

      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:700 → 768
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ULP2.3 GenPept UniProtKB/Swiss-Prot:Q6ULP2

    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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