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

Gene ID: 64100, updated on 3-Apr-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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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

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

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

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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