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    Egfem1 EGF-like and EMI domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 75740, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Egfem1provided by MGI
    Official Full Name
    EGF-like and EMI domain containing 1provided by MGI
    Primary source
    MGI:MGI:1922990
    See related
    Ensembl:ENSMUSG00000063600 AllianceGenome:MGI:1922990
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Efcab11; 6130401L20Rik
    Summary
    Predicted to enable calcium ion binding activity. Orthologous to human EGFEM1P (EGF like and EMI domain containing 1, pseudogene). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cortex adult (RPKM 1.1), frontal lobe adult (RPKM 0.9) and 10 other tissues See more
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    Genomic context

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    See Egfem1 in Genome Data Viewer
    Location:
    3 A3; 3 12.57 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (29135695..29831923)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (29081653..29691058)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_07272 Neighboring gene predicted gene, 33102 Neighboring gene STARR-seq mESC enhancer starr_07273 Neighboring gene predicted gene 1527 Neighboring gene STARR-seq mESC enhancer starr_07274 Neighboring gene predicted gene, 33154 Neighboring gene STARR-seq mESC enhancer starr_07276 Neighboring gene STARR-seq mESC enhancer starr_07277 Neighboring gene STARR-seq mESC enhancer starr_07278 Neighboring gene microRNA 551b Neighboring gene STARR-seq mESC enhancer starr_07280 Neighboring gene STARR-seq mESC enhancer starr_07281 Neighboring gene STARR-seq mESC enhancer starr_07282 Neighboring gene microRNA 21b Neighboring gene predicted gene, 42197 Neighboring gene STARR-seq mESC enhancer starr_07283 Neighboring gene STARR-seq mESC enhancer starr_07284 Neighboring gene predicted gene, 33206 Neighboring gene STARR-seq mESC enhancer starr_07285 Neighboring gene Mecom adjacent non-protein coding RNA Neighboring gene MDS1 and EVI1 complex locus Neighboring gene predicted gene, 52621

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Novel candidate genes for impaired nephron development in a rat model with inherited nephron deficit and albuminuria. Herlan L, et al. Clin Exp Pharmacol Physiol, 2015 Oct. PMID 26192016
    2. Molecular architecture of the developing mouse brain. La Manno G, et al. Nature, 2021 Aug. PMID 34321664
    3. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
    4. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    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 MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    EGF-like and EMI domain-containing protein 1
    Names
    EF-hand calcium binding domain 11

    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_001167748.3 → NP_001161220.1  EGF-like and EMI domain-containing protein 1 isoform b precursor

      Status: VALIDATED

      Source sequence(s)
      AC110222, AC119240, AL691427
      Consensus CDS
      CCDS50882.1
      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Related
      ENSMUSP00000112907.2, ENSMUST00000118531.8
      Conserved Domains (2) summary
      pfam14670
      Location:238 → 273
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:174 → 226
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    2. NM_001357198.2 → NP_001344127.1  EGF-like and EMI domain-containing protein 1 isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AC110222, AC119240, AL691427
      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (2) summary
      pfam14670
      Location:319 → 354
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:264 → 306
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    3. NM_029412.3 → NP_083688.1  EGF-like and EMI domain-containing protein 1 isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AC110222, AC113454, AC119240, AL691427
      Consensus CDS
      CCDS50881.1
      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      UniProtKB/TrEMBL
      B7ZCE7
      Related
      ENSMUSP00000112943.2, ENSMUST00000119598.8
      Conserved Domains (2) summary
      pfam14670
      Location:295 → 330
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:240 → 282
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    RNA

    1. NR_151636.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC110222, AC119240, AL691427

    2. NR_151637.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC110222, AC119240, AL691427

    3. NR_151638.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC110222, AC119240, AL691427

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      29135695..29831923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163372.1 → XP_036019265.1  EGF-like and EMI domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (2) summary
      pfam14670
      Location:363 → 398
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:308 → 350
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    2. XM_006535559.5 → XP_006535622.1  EGF-like and EMI domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (3) summary
      pfam07546
      Location:71 → 140
      EMI; EMI domain
      pfam14670
      Location:363 → 398
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:308 → 350
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    3. XM_017319785.3 → XP_017175274.1  EGF-like and EMI domain-containing protein 1 isoform X6

      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (3) summary
      pfam07546
      Location:71 → 140
      EMI; EMI domain
      pfam14670
      Location:363 → 398
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:308 → 350
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    4. XM_017319784.3 → XP_017175273.1  EGF-like and EMI domain-containing protein 1 isoform X3

      Conserved Domains (3) summary
      pfam07546
      Location:71 → 140
      EMI; EMI domain
      pfam14670
      Location:358 → 393
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:303 → 345
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    5. XM_017319788.3 → XP_017175277.1  EGF-like and EMI domain-containing protein 1 isoform X10

      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (3) summary
      pfam07546
      Location:71 → 140
      EMI; EMI domain
      pfam14670
      Location:277 → 312
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:213 → 265
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    6. XM_017319789.3 → XP_017175278.1  EGF-like and EMI domain-containing protein 1 isoform X11

      Conserved Domains (2) summary
      pfam07546
      Location:71 → 140
      EMI; EMI domain
      pfam14670
      Location:277 → 312
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    7. XM_006535562.5 → XP_006535625.1  EGF-like and EMI domain-containing protein 1 isoform X5

      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (3) summary
      pfam07546
      Location:71 → 140
      EMI; EMI domain
      pfam14670
      Location:322 → 357
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:267 → 309
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    8. XM_006535561.4 → XP_006535624.1  EGF-like and EMI domain-containing protein 1 isoform X4

      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (3) summary
      pfam07546
      Location:32 → 101
      EMI; EMI domain
      pfam14670
      Location:324 → 359
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:269 → 311
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    9. XM_006535563.4 → XP_006535626.1  EGF-like and EMI domain-containing protein 1 isoform X7

      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (3) summary
      pfam07546
      Location:32 → 101
      EMI; EMI domain
      pfam14670
      Location:319 → 354
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:264 → 306
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    10. XM_036163373.1 → XP_036019266.1  EGF-like and EMI domain-containing protein 1 isoform X8

      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (2) summary
      pfam14670
      Location:283 → 318
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:228 → 270
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    11. XM_036163375.1 → XP_036019268.1  EGF-like and EMI domain-containing protein 1 isoform X9

      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (2) summary
      pfam14670
      Location:278 → 313
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:223 → 265
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    12. XM_036163376.1 → XP_036019269.1  EGF-like and EMI domain-containing protein 1 isoform X13

      UniProtKB/Swiss-Prot
      B7ZCE8, Q149G1, Q8C088
      Conserved Domains (2) summary
      pfam14670
      Location:197 → 232
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:229 → 270
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    13. XM_006535565.2 → XP_006535628.1  EGF-like and EMI domain-containing protein 1 isoform X12

      See identical proteins and their annotated locations for XP_006535628.1

      UniProtKB/TrEMBL
      Q9CXD8
      Conserved Domains (3) summary
      pfam07546
      Location:32 → 101
      EMI; EMI domain
      pfam14670
      Location:319 → 354
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:264 → 306
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    14. XM_036163377.1 → XP_036019270.1  EGF-like and EMI domain-containing protein 1 isoform X14

      Conserved Domains (3) summary
      pfam12662
      Location:3 → 24
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:71 → 106
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:16 → 58
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    15. XM_030252865.1 → XP_030108725.1  EGF-like and EMI domain-containing protein 1 isoform X14

      Conserved Domains (3) summary
      pfam12662
      Location:3 → 24
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:71 → 106
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:16 → 58
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    16. XM_030252867.2 → XP_030108727.1  EGF-like and EMI domain-containing protein 1 isoform X14

      Conserved Domains (3) summary
      pfam12662
      Location:3 → 24
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:71 → 106
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:16 → 58
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    17. XM_017319790.2 → XP_017175279.1  EGF-like and EMI domain-containing protein 1 isoform X14

      Conserved Domains (3) summary
      pfam12662
      Location:3 → 24
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:71 → 106
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:16 → 58
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    RNA

    1. XR_001783766.3 RNA Sequence

    2. XR_003954418.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C088.1 GenPept UniProtKB/Swiss-Prot:Q8C088

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