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EBPL EBP like [ Homo sapiens (human) ]

Gene ID: 84650, updated on 1-Jun-2020

Summary

Official Symbol
EBPLprovided by HGNC
Official Full Name
EBP likeprovided by HGNC
Primary source
HGNC:HGNC:18061
See related
Ensembl:ENSG00000123179 MIM:617335
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
EBRP
Expression
Ubiquitous expression in liver (RPKM 20.9), adrenal (RPKM 15.0) and 25 other tissues See more
Orthologs

Genomic context

See EBPL in Genome Data Viewer
Location:
13q14.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (49660674..49691487, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (50234812..50265627, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370205 Neighboring gene ADP ribosylation factor like GTPase 11 Neighboring gene karyopherin subunit alpha 3 Neighboring gene RNY4 pseudogene 30

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholestenol delta-isomerase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
sterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
emopamil-binding protein-like
Names
emopamil binding protein like
emopamil binding related protein, delta8-delta7 sterol isomerase related protein
emopamil-binding-related protein

NCBI Reference Sequences (RefSeq)

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_001278636.1NP_001265565.1  emopamil-binding protein-like isoform 2

    See identical proteins and their annotated locations for NP_001265565.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL135901, BC021021
    Consensus CDS
    CCDS61334.1
    UniProtKB/TrEMBL
    A0A0A0MRV2
    Related
    ENSP00000367533.2, ENST00000378284.6
    Conserved Domains (1) summary
    pfam05241
    Location:31127
    EBP; Emopamil binding protein
  2. NM_032565.5NP_115954.1  emopamil-binding protein-like isoform 1

    See identical proteins and their annotated locations for NP_115954.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform 1.
    Source sequence(s)
    AF243433, AL135901
    Consensus CDS
    CCDS9420.1
    UniProtKB/Swiss-Prot
    Q9BY08
    Related
    ENSP00000242827.6, ENST00000242827.11
    Conserved Domains (1) summary
    pfam05241
    Location:31197
    EBP; Emopamil binding protein

RNA

  1. NR_103802.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL135901, BC073152
    Related
    ENST00000495963.2
  2. NR_103803.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL135901, BY799168
    Related
    ENST00000473576.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    49660674..49691487 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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