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    ELSPBP1 epididymal sperm binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 64100, updated on 17-Jun-2024

    Summary

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    Official Symbol
    ELSPBP1provided by HGNC
    Official Full Name
    epididymal sperm binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:14417
    See related
    Ensembl:ENSG00000169393 MIM:607443; AllianceGenome:HGNC:14417
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E12; HE12; EL149; EDDM12
    Summary
    The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ELSPBP1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (47994632..48025154)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (50986959..51017515)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48497889..48528411)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene small NF90 (ILF3) associated RNA C1 Neighboring gene binder of sperm protein homolog 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:48522004-48523203 Neighboring gene calcium binding protein 5 Neighboring gene phospholipase A2 group IVC Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48564610-48565203 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48565204-48565796 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:48565797-48566389 Neighboring gene PLA2G4C antisense RNA 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. Hepatitis C virus core protein induces epithelial-mesenchymal transition in human hepatocytes by upregulating E12/E47 levels. Tiwari I, et al. Cancer Lett, 2015 Jun 28. PMID 25817725
    2. Novel sperm-binding proteins of epididymal origin contain four fibronectin type II-modules. Saalmann A, et al. Mol Reprod Dev, 2001 Jan. PMID 11144225
    3. Identification of RANBP16 and RANBP17 as novel interaction partners for the bHLH transcription factor E12. Lee JH, et al. J Cell Biochem, 2010 Sep 1. PMID 20503194, Free PMC Article
    4. Sperm-binding fibronectin type II-module proteins are genetically linked and functionally related. Ekhlasi-Hundrieser M, et al. Gene, 2007 May 1. PMID 17307309
    5. Formation of in vivo complexes between the TAL1 and E2A polypeptides of leukemic T cells. Hsu HL, et al. Proc Natl Acad Sci U S A, 1994 Apr 12. PMID 8159721, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HCV core protein represses E-cadherin expression by upregulating E12/E47 levels to induce EMT in HCV-associated HCC.
      Title: Hepatitis C virus core protein induces epithelial-mesenchymal transition in human hepatocytes by upregulating E12/E47 levels.
    2. These biochemical and functional data reveal RANBP16 and RANBP17 as novel regulators of E2A protein action, and demonstrate specific interaction of E12 with RANBP17.
      Title: Identification of RANBP16 and RANBP17 as novel interaction partners for the bHLH transcription factor E12.
    3. characterize the assembly of a five-component complex containing TAL1, LMO2, Ldb1, E12, and DNA. The bHLH domains of TAL1 and E12 alone primarily formed helical homodimers, but together formed heterodimers, to which LMO2 bound with high affinity
      Title: Assembly of the oncogenic DNA-binding complex LMO2-Ldb1-TAL1-E12.
    4. Sperm-binding fibronectin type II-module proteins are genetically linked and functionally related.
      Title: Sperm-binding fibronectin type II-module proteins are genetically linked and functionally related.
    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
    Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
    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

    Pathways from PubChem

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    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 heparin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sperm capacitation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    epididymal sperm-binding protein 1
    Names
    epididymal protein 12
    epididymal secretory protein 12
    epididymis luminal secretory protein 149
    epididymis secretory sperm binding 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_022142.5 → NP_071425.3  epididymal sperm-binding protein 1 precursor

      See identical proteins and their annotated locations for NP_071425.3

      Status: REVIEWED

      Source sequence(s)
      AC010330, AF279147, BM661759, BM663735
      Consensus CDS
      CCDS12708.1
      UniProtKB/Swiss-Prot
      Q96BH3, Q96RT0, Q9H4C8
      UniProtKB/TrEMBL
      A0A384NKL6, K9JA26
      Related
      ENSP00000340660.2, ENST00000339841.7
      Conserved Domains (2) summary
      cd00062
      Location:177 → 223
      FN2; Fibronectin Type II domain: FN2 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and ...
      pfam00040
      Location:74 → 115
      fn2; Fibronectin type II domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      47994632..48025154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027130.2 → XP_016882619.1  epididymal sperm-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      K9JA26

    2. XM_047439213.1 → XP_047295169.1  epididymal sperm-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      K9JA26

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      50986959..51017515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321739.1 → XP_054177714.1  epididymal sperm-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      K9JA26

    2. XM_054321740.1 → XP_054177715.1  epididymal sperm-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      K9JA26
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BH3.2 GenPept UniProtKB/Swiss-Prot:Q96BH3

    Gene LinkOut

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