Format

Send to:

Choose Destination

PHETA1 PH domain containing endocytic trafficking adaptor 1 [ Homo sapiens (human) ]

Gene ID: 144717, updated on 23-Nov-2021

Summary

Official Symbol
PHETA1provided by HGNC
Official Full Name
PH domain containing endocytic trafficking adaptor 1provided by HGNC
Primary source
HGNC:HGNC:26509
See related
Ensembl:ENSG00000198324 MIM:614239
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SES1; FAM109A; IPIP27A
Summary
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]
Expression
Ubiquitous expression in small intestine (RPKM 9.7), duodenum (RPKM 9.3) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PHETA1 in Genome Data Viewer
Location:
12q24.12
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (111360679..111369095, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111798483..111806899, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene cut like homeobox 2 Neighboring gene uncharacterized LOC105369983 Neighboring gene microRNA 6760 Neighboring gene RNA, 5S ribosomal pseudogene 373 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 14 Neighboring gene long intergenic non-protein coding RNA 2356

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32356

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in receptor recycling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in receptor recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in clathrin-coated vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
sesquipedalian-1
Names
27 kDa inositol polyphosphate phosphatase-interacting protein A
family with sequence similarity 109 member A
inositol polyphosphate phosphatase-interacting protein A
protein FAM109A

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_021347.1 RefSeqGene

    Range
    5027..13471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001177996.3NP_001171467.1  sesquipedalian-1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC005805, CX758147, DB055268
    Consensus CDS
    CCDS53833.1
    UniProtKB/Swiss-Prot
    Q8N4B1
    Related
    ENSP00000354461.3, ENST00000361483.4
    Conserved Domains (2) summary
    cd13288
    Location:24143
    PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain
    pfam00169
    Location:35125
    PH; PH domain
  2. NM_001177997.3NP_001171468.1  sesquipedalian-1 isoform 2

    See identical proteins and their annotated locations for NP_001171468.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC005805, CX758147, DA707326
    Consensus CDS
    CCDS9152.1
    UniProtKB/Swiss-Prot
    Q8N4B1
    Related
    ENSP00000447353.1, ENST00000547838.2
    Conserved Domains (1) summary
    cd13288
    Location:11130
    PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain
  3. NM_144671.6NP_653272.2  sesquipedalian-1 isoform 2

    See identical proteins and their annotated locations for NP_653272.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC005805, BC034809, CX758147
    Consensus CDS
    CCDS9152.1
    UniProtKB/Swiss-Prot
    Q8N4B1
    Related
    ENSP00000507123.1, ENST00000683047.1
    Conserved Domains (1) summary
    cd13288
    Location:11130
    PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    111360679..111369095 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018883.1XP_016874372.1  sesquipedalian-1 isoform X1

    UniProtKB/Swiss-Prot
    Q8N4B1
    Conserved Domains (1) summary
    cd13288
    Location:11130
    PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain
  2. XM_006719257.3XP_006719320.1  sesquipedalian-1 isoform X1

    See identical proteins and their annotated locations for XP_006719320.1

    UniProtKB/Swiss-Prot
    Q8N4B1
    Conserved Domains (1) summary
    cd13288
    Location:11130
    PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain
  3. XM_011537976.2XP_011536278.1  sesquipedalian-1 isoform X1

    See identical proteins and their annotated locations for XP_011536278.1

    UniProtKB/Swiss-Prot
    Q8N4B1
    Conserved Domains (1) summary
    cd13288
    Location:11130
    PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain
Support Center