This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] See more...

Aliases for PHETA1 Gene

Aliases for PHETA1 Gene

  • PH Domain Containing Endocytic Trafficking Adaptor 1 2 3 5
  • Sesquipedalian-1 2 3 4
  • IPIP27A 2 3 4
  • 27 KDa Inositol Polyphosphate Phosphatase-Interacting Protein A 3 4
  • Inositol Polyphosphate Phosphatase-Interacting Protein A 2 3
  • Family With Sequence Similarity 109 Member A 2 3
  • FAM109A 3 4
  • SES1 2 3
  • PH Domain-Containing Endocytic Trafficking Adaptor 1 4
  • Family With Sequence Similarity 109, Member A 2
  • Protein FAM109A 3
  • FLJ32356 2
  • PHETA1 5
  • Ses1 4

External Ids for PHETA1 Gene

Previous HGNC Symbols for PHETA1 Gene

  • FAM109A

Summaries for PHETA1 Gene

Entrez Gene Summary for PHETA1 Gene

  • This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

GeneCards Summary for PHETA1 Gene

PHETA1 (PH Domain Containing Endocytic Trafficking Adaptor 1) is a Protein Coding gene. Diseases associated with PHETA1 include Lowe Oculocerebrorenal Syndrome and Leopard Syndrome 1. An important paralog of this gene is PHETA2.

UniProtKB/Swiss-Prot Summary for PHETA1 Gene

  • Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.

Additional gene information for PHETA1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHETA1 Gene

Genomics for PHETA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PHETA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHETA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHETA1

Genomic Locations for PHETA1 Gene

Genomic Locations for PHETA1 Gene
chr12:111,360,651-111,369,121
(GRCh38/hg38)
Size:
8,471 bases
Orientation:
Minus strand
chr12:111,798,455-111,806,925
(GRCh37/hg19)
Size:
8,471 bases
Orientation:
Minus strand

Genomic View for PHETA1 Gene

Genes around PHETA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHETA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHETA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHETA1 Gene

Proteins for PHETA1 Gene

  • Protein details for PHETA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4B1-SESQ1_HUMAN
    Recommended name:
    Sesquipedalian-1
    Protein Accession:
    Q8N4B1
    Secondary Accessions:
    • J3KP50
    • Q6PJL9
    • Q96MH8

    Protein attributes for PHETA1 Gene

    Size:
    249 amino acids
    Molecular mass:
    27215 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with PHETA2 (PubMed:21233288). Interacts with OCRL and INPP5B (PubMed:20133602, PubMed:21233288, PubMed:21666675). Interaction with OCRL may be important for endosomal morphology and function (By similarity).
    Miscellaneous:
    • Was named after 'sesquipedalian', an unnecessarily long description of a simple thing.

    Three dimensional structures from OCA and Proteopedia for PHETA1 Gene

    Alternative splice isoforms for PHETA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHETA1 Gene

Post-translational modifications for PHETA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHETA1 Gene

Domains & Families for PHETA1 Gene

Gene Families for PHETA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PHETA1 Gene

InterPro:
Blocks:
  • Pleckstrin-like
ProtoNet:

Suggested Antigen Peptide Sequences for PHETA1 Gene

GenScript: Design optimal peptide antigens:
  • 27 kDa inositol polyphosphate phosphatase-interacting protein A (SESQ1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N4B1

UniProtKB/Swiss-Prot:

SESQ1_HUMAN :
  • The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.
  • Belongs to the sesquipedalian family.
Domain:
  • The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.
Family:
  • Belongs to the sesquipedalian family.
genes like me logo Genes that share domains with PHETA1: view

Function for PHETA1 Gene

Molecular function for PHETA1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.

Phenotypes From GWAS Catalog for PHETA1 Gene

Gene Ontology (GO) - Molecular Function for PHETA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21233288
GO:0042803 protein homodimerization activity IPI 21233288
genes like me logo Genes that share ontologies with PHETA1: view
genes like me logo Genes that share phenotypes with PHETA1: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHETA1 Gene

Localization for PHETA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHETA1 Gene

Early endosome. Recycling endosome. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Interaction with OCRL may be crucial for targeting to endosome and to the trans-Golgi network. Also found on macropinosomes. Not detected in late endosomes, nor in lysosomes. {ECO:0000269 PubMed:20133602, ECO:0000269 PubMed:21233288}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHETA1 gene
Compartment Confidence
endosome 5
golgi apparatus 5
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PHETA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IBA,IDA 21233288
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IBA,IDA 21233288
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with PHETA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PHETA1 Gene

Pathways & Interactions for PHETA1 Gene

PathCards logo

SuperPathways for PHETA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHETA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling IBA,IMP 21233288
GO:0007032 endosome organization IMP 21233288
GO:0042147 retrograde transport, endosome to Golgi IBA,IMP 21233288
genes like me logo Genes that share ontologies with PHETA1: view

No data available for Pathways by source and SIGNOR curated interactions for PHETA1 Gene

Drugs & Compounds for PHETA1 Gene

No Compound Related Data Available

Transcripts for PHETA1 Gene

mRNA/cDNA for PHETA1 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for PHETA1 Gene

No ASD Table

Relevant External Links for PHETA1 Gene

GeneLoc Exon Structure for
PHETA1

Expression for PHETA1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHETA1

Evidence on tissue expression from TISSUES for PHETA1 Gene

  • Nervous system(4.3)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHETA1 Gene

Orthologs for PHETA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHETA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM109A 30 31
  • 98.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM109A 30 31
  • 83.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM109A 30 31
  • 82.87 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam109a 30 31
  • 74.84 (n)
OneToOne
Pheta1 17
Rat
(Rattus norvegicus)
Mammalia Fam109a 30
  • 73.95 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 38 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves FAM109A 30 31
  • 67.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM109A 31
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488560 30
  • 49.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-193c2.2 30
  • 69.21 (n)
FAM109A 31
  • 45 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG12393 31
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6697 31
  • 24 (a)
OneToMany
Species where no ortholog for PHETA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PHETA1 Gene

ENSEMBL:
Gene Tree for PHETA1 (if available)
TreeFam:
Gene Tree for PHETA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PHETA1: view image

Paralogs for PHETA1 Gene

Paralogs for PHETA1 Gene

Pseudogenes.org Pseudogenes for PHETA1 Gene

genes like me logo Genes that share paralogs with PHETA1: view

Variants for PHETA1 Gene

Additional dbSNP identifiers (rs#s) for PHETA1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PHETA1 Gene

Variant ID Type Subtype PubMed ID
nsv516920 CNV loss 19592680
nsv832513 CNV gain 17160897

Variation tolerance for PHETA1 Gene

Residual Variation Intolerance Score: 74.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.71; 93.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHETA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHETA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHETA1 Gene

Disorders for PHETA1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PHETA1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lowe oculocerebrorenal syndrome
  • ocrl
leopard syndrome 1
  • lprd1
dent disease 1
  • nephrolithiasis, hypercalciuric, x-linked
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PHETA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHETA1 Gene

Publications for PHETA1 Gene

  1. The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. (PMID: 21233288) Noakes CJ … Lowe M (Molecular biology of the cell 2011) 2 3 4
  2. Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. (PMID: 20133602) Swan LE … De Camilli P (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for PHETA1 Gene

Sources for PHETA1 Gene