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ENTREP3 endosomal transmembrane epsin interactor 3 [ Homo sapiens (human) ]

Gene ID: 10712, updated on 22-Sep-2022

Summary

Official Symbol
ENTREP3provided by HGNC
Official Full Name
endosomal transmembrane epsin interactor 3provided by HGNC
Primary source
HGNC:HGNC:1233
See related
Ensembl:ENSG00000160767 MIM:619447; AllianceGenome:HGNC:1233
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
COTE1; C1orf2; FAM189B
Summary
This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Expression
Ubiquitous expression in fat (RPKM 4.9), testis (RPKM 4.8) and 25 other tissues See more
Orthologs
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Genomic context

See ENTREP3 in Genome Data Viewer
Location:
1q22
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155247205..155255483, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154385763..154394041, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155216996..155225274, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GBA recombination region Neighboring gene metaxin 1 pseudogene 1 Neighboring gene glucosylceramidase beta 1 Neighboring gene secretory carrier membrane protein 3 Neighboring gene CDC like kinase 2

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables WW domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein FAM189B
Names
family with sequence similarity 189 member B

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_001267608.2NP_001254537.1  protein FAM189B isoform c

    See identical proteins and their annotated locations for NP_001254537.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform c which is shorter than isoform 1.
    Source sequence(s)
    AF070550, AL713999, BC033707
    Consensus CDS
    CCDS58035.1
    UniProtKB/Swiss-Prot
    P81408
    UniProtKB/TrEMBL
    Q9Y6J7
    Related
    ENSP00000357352.3, ENST00000368368.7
    Conserved Domains (1) summary
    pfam04103
    Location:36177
    CD20; CD20-like family
  2. NM_006589.3NP_006580.2  protein FAM189B isoform a

    See identical proteins and their annotated locations for NP_006580.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform a).
    Source sequence(s)
    AK093335, BC006493, BC040136
    Consensus CDS
    CCDS1103.1
    UniProtKB/Swiss-Prot
    P81408, Q9BR66
    Related
    ENSP00000354958.2, ENST00000361361.7
    Conserved Domains (1) summary
    pfam04103
    Location:36196
    CD20; CD20-like family
  3. NM_198264.2NP_937995.1  protein FAM189B isoform b

    See identical proteins and their annotated locations for NP_937995.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting protein (isoform b) is shorter than isoform a.
    Source sequence(s)
    AK093335, BC040136
    Consensus CDS
    CCDS1104.1
    UniProtKB/Swiss-Prot
    P81408
    Related
    ENSP00000307128.4, ENST00000350210.6
    Conserved Domains (1) summary
    pfam04103
    Location:36101
    CD20; CD20-like family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    155247205..155255483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438744.1XP_047294700.1  protein FAM189B isoform X2

  2. XM_005244845.3XP_005244902.1  protein FAM189B isoform X1

    See identical proteins and their annotated locations for XP_005244902.1

    UniProtKB/Swiss-Prot
    P81408
    Conserved Domains (1) summary
    pfam04103
    Location:36196
    CD20; CD20-like family

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315906.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    52228..60506 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    154385763..154394041 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)