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    ENTREP1 endosomal transmembrane epsin interactor 1 [ Homo sapiens (human) ]

    Gene ID: 9413, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ENTREP1provided by HGNC
    Official Full Name
    endosomal transmembrane epsin interactor 1provided by HGNC
    Primary source
    HGNC:HGNC:24820
    See related
    Ensembl:ENSG00000135063 MIM:607710; AllianceGenome:HGNC:24820
    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
    X123; ENTREP; C9orf61; FAM189A2
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in thyroid (RPKM 15.5), lung (RPKM 12.0) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ENTREP1 in Genome Data Viewer
    Location:
    9q21.12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (69324567..69392456)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (81491223..81559059)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (71939483..72007372)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28447 Neighboring gene tight junction protein 2 Neighboring gene Sharpr-MPRA regulatory region 4978 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:71856696-71857196 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:71857197-71857697 Neighboring gene uncharacterized LOC124902176 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:71897736-71898504 Neighboring gene NANOG hESC enhancer GRCh37_chr9:71898508-71899009 Neighboring gene Sharpr-MPRA regulatory region 15637 Neighboring gene BRAF-activated non-protein coding RNA Neighboring gene uncharacterized LOC124902177 Neighboring gene Sharpr-MPRA regulatory region 1664 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:72081305-72082504 Neighboring gene uncharacterized LOC124902178 Neighboring gene 9q21.12 proximal LINE-mediated recombination region Neighboring gene amyloid beta precursor protein binding family A member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. Duclos F, et al. Hum Mol Genet, 1994 Jun. PMID 7951235
    2. ENTREP/FAM189A2 encodes a new ITCH ubiquitin ligase activator that is downregulated in breast cancer. Tsunoda T, et al. EMBO Rep, 2022 Feb 3. PMID 34927784, Free PMC Article
    3. A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. Lee HJ, et al. J Affect Disord, 2013 Feb 20. PMID 22925353, Free PMC Article
    4. Genetic Hearing Loss Overview. Adam MP, et al. , 1993. PMID 20301607
    5. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ENTREP/FAM189A2 encodes a new ITCH ubiquitin ligase activator that is downregulated in breast cancer.
      Title: ENTREP/FAM189A2 encodes a new ITCH ubiquitin ligase activator that is downregulated in breast cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC142243, MGC142245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin ligase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CXCL12-activated CXCR4 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in negative adaptation of signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    endosomal transmembrane epsin interactor 1
    Names
    Friedreich ataxia region gene X123
    Protein FAM189A2
    endosomal transmembrane binding with epsin
    family with sequence similarity 189 member A2

    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.

    Genomic

    1. NG_052888.1 RefSeqGene

      Range
      5644..72885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127608.3 → NP_001121080.1  endosomal transmembrane epsin interactor 1 precursor isoform b precursor

      See identical proteins and their annotated locations for NP_001121080.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 3. The encoded isoform (b) has a shorter N-terminus compared to isoform a. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AI961387, AK126127, AL355140, BC021685, DA824091
      Consensus CDS
      CCDS6629.1
      UniProtKB/Swiss-Prot
      A0A0A0MR12, A0A6F8PH59, Q14CN5, Q15884, Q5T6C8, Q5T6C9, Q6ZTX4, Q96N10
      Related
      ENSP00000395675.1, ENST00000455972.6
      Conserved Domains (1) summary
      pfam04103
      Location:18 → 107
      CD20; CD20-like family

    2. NM_001347995.2 → NP_001334924.1  endosomal transmembrane epsin interactor 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL355140
      Consensus CDS
      CCDS87658.1
      Related
      ENSP00000304435.8, ENST00000303068.14
      Conserved Domains (1) summary
      pfam04103
      Location:108 → 261
      CD20; CD20-like family

    3. NM_004816.5 → NP_004807.3  endosomal transmembrane epsin interactor 1 precursor isoform b precursor

      See identical proteins and their annotated locations for NP_004807.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 3. The encoded isoform (b) has a shorter N-terminus compared to isoform a. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AI961387, AK126127, BC021685
      Consensus CDS
      CCDS6629.1
      UniProtKB/Swiss-Prot
      A0A0A0MR12, A0A6F8PH59, Q14CN5, Q15884, Q5T6C8, Q5T6C9, Q6ZTX4, Q96N10
      Related
      ENSP00000257515.8, ENST00000257515.12
      Conserved Domains (1) summary
      pfam04103
      Location:18 → 107
      CD20; CD20-like family

    RNA

    1. NR_170669.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL355140

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      69324567..69392456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424086.1 → XP_047280042.1  endosomal transmembrane epsin interactor 1 isoform X1

    2. XM_017015324.2 → XP_016870813.2  endosomal transmembrane epsin interactor 1 isoform X2

    3. XM_047424087.1 → XP_047280043.1  endosomal transmembrane epsin interactor 1 isoform X4

    4. XM_047424088.1 → XP_047280044.1  endosomal transmembrane epsin interactor 1 isoform X5

    5. XM_024447718.2 → XP_024303486.1  endosomal transmembrane epsin interactor 1 isoform X3

      UniProtKB/Swiss-Prot
      A0A0A0MR12, A0A6F8PH59, Q14CN5, Q15884, Q5T6C8, Q5T6C9, Q6ZTX4, Q96N10
      Conserved Domains (1) summary
      pfam04103
      Location:18 → 107
      CD20; CD20-like family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      81491223..81559059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364189.1 → XP_054220164.1  endosomal transmembrane epsin interactor 1 isoform X1

    2. XM_054364190.1 → XP_054220165.1  endosomal transmembrane epsin interactor 1 isoform X2

    3. XM_054364192.1 → XP_054220167.1  endosomal transmembrane epsin interactor 1 isoform X4

    4. XM_054364193.1 → XP_054220168.1  endosomal transmembrane epsin interactor 1 isoform X5

    5. XM_054364191.1 → XP_054220166.1  endosomal transmembrane epsin interactor 1 isoform X3

      UniProtKB/Swiss-Prot
      A0A0A0MR12, A0A6F8PH59, Q14CN5, Q15884, Q5T6C8, Q5T6C9, Q6ZTX4, Q96N10
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15884.3 GenPept UniProtKB/Swiss-Prot:Q15884

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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