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AFTPH aftiphilin [ Homo sapiens (human) ]

Gene ID: 54812, updated on 13-Mar-2020

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
109.20200228 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
 
nucleoplasm 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_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
  3. NM_001375970.1NP_001362899.1  aftiphilin isoform e

    Status: VALIDATED

    Source sequence(s)
    AC008074
  4. NM_001375971.1NP_001362900.1  aftiphilin isoform f

    Status: VALIDATED

    Source sequence(s)
    AC008074
  5. NM_001375972.1NP_001362901.1  aftiphilin isoform g

    Status: VALIDATED

    Source sequence(s)
    AC008074
  6. NM_001375973.1NP_001362902.1  aftiphilin isoform h

    Status: VALIDATED

    Source sequence(s)
    AC008074
  7. 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
  8. 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) encodes 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

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

RefSeqs of Annotated Genomes: Homo sapiens Updated 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)
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