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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
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Genomic context

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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

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