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    EBPL EBP like [ Homo sapiens (human) ]

    Gene ID: 84650, updated on 27-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
    mouse all
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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
    • 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene LinkOut

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

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