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Pheta1 PH domain containing endocytic trafficking adaptor 1 [ Mus musculus (house mouse) ]

Gene ID: 231717, updated on 5-Mar-2024

Summary

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Official Symbol
Pheta1provided by MGI
Official Full Name
PH domain containing endocytic trafficking adaptor 1provided by MGI
Primary source
MGI:MGI:2442708
See related
Ensembl:ENSMUSG00000044134 AllianceGenome:MGI:2442708
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ses1; Fam109a; IPIP27A; A230106M15Rik
Summary
Predicted to enable protein homodimerization activity. Predicted to be involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Predicted to be located in clathrin-coated vesicle. Predicted to be active in early endosome; recycling endosome; and trans-Golgi network. Orthologous to human PHETA1 (PH domain containing endocytic trafficking adaptor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in duodenum adult (RPKM 102.0), small intestine adult (RPKM 80.8) and 16 other tissues See more
Orthologs
human all
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Genomic context

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Location:
5 F; 5 62.01 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (121987060..121992667)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (121848997..121854604)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene microRNA 7031 Neighboring gene SH2B adaptor protein 3 Neighboring gene STARR-positive B cell enhancer mm9_chr5:122298757-122299058 Neighboring gene predicted gene, 32422 Neighboring gene cut-like homeobox 2 Neighboring gene predicted gene, 52785 Neighboring gene uncharacterized LOC118568726 Neighboring gene predicted gene, 52786

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. Swan LE, et al. Proc Natl Acad Sci U S A, 2010 Feb 23. PMID 20133602, Free PMC Article
  2. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
  3. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
  4. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
  5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endosome organization ISO
Inferred from Sequence Orthology
more info
  
involved_in receptor recycling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in receptor recycling ISO
Inferred from Sequence Orthology
more info
  
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde transport, endosome to Golgi ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in clathrin-coated vesicle ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in early endosome ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in recycling endosome ISO
Inferred from Sequence Orthology
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
sesquipedalian-1
Names
27 kDa inositol polyphosphate phosphatase interacting protein A
family with sequence similarity 109, member A

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_001359949.1 → NP_001346878.1  sesquipedalian-1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AC113302
    Consensus CDS
    CCDS19642.1
    UniProtKB/Swiss-Prot
    Q8BH49
    Conserved Domains (1) summary
    cd13288
    Location:11 → 130
    PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain

  2. NM_001359950.1 → NP_001346879.1  sesquipedalian-1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AC113302, AK039192
    Consensus CDS
    CCDS19642.1
    UniProtKB/Swiss-Prot
    Q8BH49
    Related
    ENSMUSP00000143110.2, ENSMUST00000198271.5
    Conserved Domains (1) summary
    cd13288
    Location:11 → 130
    PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain

  3. NM_175474.4 → NP_780683.1  sesquipedalian-1

    See identical proteins and their annotated locations for NP_780683.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AK039192, BE993987, BY347960
    Consensus CDS
    CCDS19642.1
    UniProtKB/Swiss-Prot
    Q8BH49
    Related
    ENSMUSP00000062386.4, ENSMUST00000056654.8
    Conserved Domains (1) summary
    cd13288
    Location:11 → 130
    PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    121987060..121992667
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BH49.1 GenPept UniProtKB/Swiss-Prot:Q8BH49

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