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EBPL EBP like [ Homo sapiens (human) ]

Gene ID: 84650, updated on 2-Nov-2024

Summary

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Official Symbol
EBPLprovided by HGNC
Official Full Name
EBP likeprovided by HGNC
Primary source
HGNC:HGNC:18061
See related
Ensembl:ENSG00000123179 MIM:617335; AllianceGenome:HGNC:18061
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
Summary
Predicted to enable cholestenol delta-isomerase activity. Predicted to be involved in sterol metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in liver (RPKM 20.9), adrenal (RPKM 15.0) and 25 other tissues See more
Orthologs
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Genomic context

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See EBPL in Genome Data Viewer
Location:
13q14.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (49660674..49691487, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (48879582..48910398, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (50234810..50265623, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7752 Neighboring gene Sharpr-MPRA regulatory region 6161 Neighboring gene uncharacterized LOC105370205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7753 Neighboring gene ARF like GTPase 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:50264917-50265914 Neighboring gene karyopherin subunit alpha 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50298675-50299175 Neighboring gene Sharpr-MPRA regulatory region 10165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50324522-50325022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:50334902-50335622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:50335623-50336343 Neighboring gene NANOG hESC enhancer GRCh37_chr13:50365333-50365852 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:50365857-50366518 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:50366519-50367180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50386223-50386724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50410354-50410980 Neighboring gene RNY4 pseudogene 30

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 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. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. Moebius FF, et al. Biochem J, 2003 Aug 15. PMID 12760743, Free PMC Article
  2. Novel interactive partners of neuroligin 3: new aspects for pathogenesis of autism. Shen C, et al. J Mol Neurosci, 2015 May. PMID 25464930
  3. Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. Choy KW, et al. Physiol Genomics, 2006 Mar 13. PMID 16368877
  4. Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects. Ma J, et al. Atherosclerosis, 2007 Mar. PMID 16806233
  5. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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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)

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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_001278636.1 → NP_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:31 → 127
    EBP; Emopamil binding protein

  2. NM_032565.5 → NP_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
    A6NJ59, Q569H7, Q5JVN2, Q5JVN3, Q5JVN4, Q5JVN5, Q5JVN6, Q9BY08
    Related
    ENSP00000242827.6, ENST00000242827.11
    Conserved Domains (1) summary
    pfam05241
    Location:31 → 197
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    48879582..48910398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BY08.1 GenPept UniProtKB/Swiss-Prot:Q9BY08

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