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PLEKHF1 pleckstrin homology and FYVE domain containing 1 [ Homo sapiens (human) ]

Gene ID: 79156, updated on 17-Jun-2019

Summary

Official Symbol
PLEKHF1provided by HGNC
Official Full Name
pleckstrin homology and FYVE domain containing 1provided by HGNC
Primary source
HGNC:HGNC:20764
See related
Ensembl:ENSG00000166289 MIM:615200
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
APPD; LAPF; PHAFIN1; ZFYVE15
Expression
Ubiquitous expression in fat (RPKM 4.0), spleen (RPKM 2.2) and 24 other tissues See more
Orthologs

Genomic context

See PLEKHF1 in Genome Data Viewer
Location:
19q12
Exon count:
2
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (29665422..29675477)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (30156327..30166384)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene POP4 homolog, ribonuclease P/MRP subunit Neighboring gene uncharacterized LOC105372353 Neighboring gene Sharpr-MPRA regulatory region 11339 Neighboring gene chromosome 19 open reading frame 12

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4090

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-5-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
endosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of autophagy IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IC
Inferred by Curator
more info
PubMed 
lysosomal membrane IC
Inferred by Curator
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pleckstrin homology domain-containing family F member 1
Names
PH and FYVE domain-containing protein 1
PH domain-containing family F member 1
apoptosis-inducing protein D
lysosome-associated apoptosis-inducing protein containing PH and FYVE domains
phafin 1
pleckstrin homology domain containing, family F (with FYVE domain) member 1
zinc finger FYVE domain-containing protein 15

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_024310.5NP_077286.3  pleckstrin homology domain-containing family F member 1

    See identical proteins and their annotated locations for NP_077286.3

    Status: VALIDATED

    Source sequence(s)
    AY037145, BC018876
    Consensus CDS
    CCDS12417.1
    UniProtKB/Swiss-Prot
    Q96S99
    Related
    ENSP00000389787.2, ENST00000436066.4
    Conserved Domains (2) summary
    cd01218
    Location:7129
    PH_Phafin2-like; Phafin2 (also called EAPF, FLJ13187, ZFYVE18 or PLEKHF2) Pleckstrin Homology (PH) domain
    cd15754
    Location:148211
    FYVE_PKHF1; FYVE domain found in protein containing both PH and FYVE domains 1 (phafin-1) and similar proteins

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    29665422..29675477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259256.3XP_005259313.1  pleckstrin homology domain-containing family F member 1 isoform X2

    See identical proteins and their annotated locations for XP_005259313.1

    UniProtKB/TrEMBL
    B4DWN9
    Conserved Domains (3) summary
    cd01218
    Location:92214
    PH_Phafin2-like; Phafin2 (also called EAPF, FLJ13187, ZFYVE18 or PLEKHF2) Pleckstrin Homology (PH) domain
    cd15754
    Location:233296
    FYVE_PKHF1; FYVE domain found in protein containing both PH and FYVE domains 1 (phafin-1) and similar proteins
    pfam00169
    Location:124216
    PH; PH domain
  2. XM_011527309.3XP_011525611.1  pleckstrin homology domain-containing family F member 1 isoform X1

    See identical proteins and their annotated locations for XP_011525611.1

    UniProtKB/Swiss-Prot
    Q96S99
    Conserved Domains (2) summary
    cd01218
    Location:7129
    PH_Phafin2-like; Phafin2 (also called EAPF, FLJ13187, ZFYVE18 or PLEKHF2) Pleckstrin Homology (PH) domain
    cd15754
    Location:148211
    FYVE_PKHF1; FYVE domain found in protein containing both PH and FYVE domains 1 (phafin-1) and similar proteins
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