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AFTPH aftiphilin [ Homo sapiens (human) ]

Gene ID: 54812, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 20.9), prostate (RPKM 17.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2p14
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (64524328..64593005)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (64533766..64602433)
105.20220307 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 (44) 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)

Genotypes

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 
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

    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: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

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

  10. NM_203437.4 → NP_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: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_2023_10

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.

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