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    Ehbp1l1 EH domain binding protein 1-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 114601, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ehbp1l1provided by MGI
    Official Full Name
    EH domain binding protein 1-like 1provided by MGI
    Primary source
    MGI:MGI:3612340
    See related
    Ensembl:ENSMUSG00000024937 AllianceGenome:MGI:3612340
    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
    G430002G23Rik
    Summary
    Acts upstream of or within several processes, including enucleation; erythrocyte differentiation; and mitochondrion localization. Predicted to be located in recycling endosome. Is expressed in several structures, including genitourinary system; gut; liver; musculature; and tail mesenchyme. Orthologous to human EHBP1L1 (EH domain binding protein 1 like 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver E14.5 (RPKM 26.4), liver E14 (RPKM 25.6) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ehbp1l1 in Genome Data Viewer
    Location:
    19 A; 19 4.34 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (5757397..5776504, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (5707369..5726576, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene pecanex homolog 3 Neighboring gene microRNA 6987 Neighboring gene STARR-positive B cell enhancer ABC_E4259 Neighboring gene STARR-positive B cell enhancer ABC_E11012 Neighboring gene mitogen-activated protein kinase kinase kinase 11 Neighboring gene potassium channel, subfamily K, member 7 Neighboring gene family with sequence similarity 89, member B Neighboring gene zinc ribbon domain containing 2

    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. Identification of genes downstream of Pax6 in the mouse lens using cDNA microarrays. Chauhan BK, et al. J Biol Chem, 2002 Mar 29. PMID 11790784
    2. The Rab11-binding protein RELCH/KIAA1468 controls intracellular cholesterol distribution. Sobajima T, et al. J Cell Biol, 2018 May 7. PMID 29514919, Free PMC Article
    3. Genetic predisposition to tinnitus in the UK Biobank population. Urbanek ME, et al. Sci Rep, 2021 Sep 13. PMID 34518561, Free PMC Article
    4. EHBP1L1, an apicobasal polarity regulator, is critical for nuclear polarization during enucleation of erythroblasts. Wu J, et al. Blood Adv, 2023 Jul 25. PMID 37042948, Free PMC Article
    5. EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells. Nakajo A, et al. J Cell Biol, 2016 Feb 1. PMID 26833786, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EHBP1L1, an apicobasal polarity regulator, is critical for nuclear polarization during enucleation of erythroblasts.
      Title: EHBP1L1, an apicobasal polarity regulator, is critical for nuclear polarization during enucleation of erythroblasts.
    2. Data demonstrate that EHBP1L1 links Rab8 and the Bin1-dynamin complex, which generates membrane curvature and excises the vesicle at the endocytic recycling compartment for apical transport.
      Title: EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2)  1 citation
    • Targeted (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 molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within enucleation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment or maintenance of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mitochondrion localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within nucleus localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in recycling endosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    EH domain-binding protein 1-like protein 1
    Names
    tangerin

    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_001114595.1 → NP_001108067.1  EH domain-binding protein 1-like protein 1 isoform C

      See identical proteins and their annotated locations for NP_001108067.1

      Status: VALIDATED

      Source sequence(s)
      AC134563
      Consensus CDS
      CCDS89317.1
      UniProtKB/TrEMBL
      A0A494B9G7
      Related
      ENSMUSP00000157612.2, ENSMUST00000235730.2
      Conserved Domains (3) summary
      pfam00307
      Location:255 → 354
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:598 → 738
      DUF3585; Protein of unknown function (DUF3585)

    2. NM_001114596.1 → NP_001108068.1  EH domain-binding protein 1-like protein 1 isoform D

      See identical proteins and their annotated locations for NP_001108068.1

      Status: VALIDATED

      Source sequence(s)
      AC134563
      Consensus CDS
      CCDS50360.1
      UniProtKB/TrEMBL
      G5E8Y6
      Related
      ENSMUSP00000126740.2, ENSMUST00000075606.6
      Conserved Domains (3) summary
      pfam00307
      Location:267 → 366
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:610 → 750
      DUF3585; Protein of unknown function (DUF3585)

    3. NM_001114597.1 → NP_001108069.1  EH domain-binding protein 1-like protein 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC134563
      Consensus CDS
      CCDS50359.1
      UniProtKB/Swiss-Prot
      Q3V443, Q8C2W6, Q99J97, Q99MS5, Q99MS6, Q99MS7
      UniProtKB/TrEMBL
      E9QP49
      Related
      ENSMUSP00000037656.9, ENSMUST00000049295.15
      Conserved Domains (4) summary
      pfam09528
      Location:583 → 1163
      Ehrlichia_rpt; Ehrlichia tandem repeat (Ehrlichia_rpt)
      pfam00307
      Location:1211 → 1310
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:1554 → 1694
      DUF3585; Protein of unknown function (DUF3585)

    4. NM_001381901.1 → NP_001368830.1  EH domain-binding protein 1-like protein 1 isoform E

      Status: VALIDATED

      Source sequence(s)
      AC134563
      Conserved Domains (4) summary
      PRK07764
      Location:292 → 501
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:854 → 985
      DUF3585; Protein of unknown function (DUF3585)
      cd21255
      Location:507 → 611
      CH_EHBP1L1; calponin homology (CH) domain found in EH domain-binding protein 1-like protein 1 and similar proteins

    5. NM_053252.3 → NP_444482.2  EH domain-binding protein 1-like protein 1 isoform B

      See identical proteins and their annotated locations for NP_444482.2

      Status: VALIDATED

      Source sequence(s)
      AC134563, AK087817, AK089917, BY749669
      Consensus CDS
      CCDS89316.1
      UniProtKB/TrEMBL
      A0A494BA91
      Related
      ENSMUSP00000157990.2, ENSMUST00000236215.2
      Conserved Domains (3) summary
      pfam00307
      Location:370 → 469
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:713 → 853
      DUF3585; Protein of unknown function (DUF3585)

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      5757397..5776504 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030250701.2 → XP_030106561.1  EH domain-binding protein 1-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3V443, Q8C2W6, Q99J97, Q99MS5, Q99MS6, Q99MS7
      Conserved Domains (4) summary
      PHA03307
      Location:185 → 538
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam00307
      Location:1223 → 1322
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:1570 → 1706
      DUF3585; Protein of unknown function (DUF3585)

    2. XM_030250703.2 → XP_030106563.1  EH domain-binding protein 1-like protein 1 isoform X2

      Conserved Domains (4) summary
      PRK07764
      Location:304 → 513
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam00307
      Location:519 → 618
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:866 → 1002
      DUF3585; Protein of unknown function (DUF3585)

    3. XM_030250705.2 → XP_030106565.1  EH domain-binding protein 1-like protein 1 isoform X3

      Conserved Domains (4) summary
      PRK12678
      Location:269 → 445
      PRK12678; transcription termination factor Rho; Provisional
      pfam00307
      Location:461 → 560
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:808 → 944
      DUF3585; Protein of unknown function (DUF3585)

    4. XM_006531634.4 → XP_006531697.1  EH domain-binding protein 1-like protein 1 isoform X4

      Conserved Domains (4) summary
      PRK12678
      Location:257 → 433
      PRK12678; transcription termination factor Rho; Provisional
      pfam00307
      Location:449 → 548
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:796 → 932
      DUF3585; Protein of unknown function (DUF3585)

    5. XM_006531635.4 → XP_006531698.1  EH domain-binding protein 1-like protein 1 isoform X5

      Conserved Domains (3) summary
      pfam00307
      Location:382 → 481
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:729 → 865
      DUF3585; Protein of unknown function (DUF3585)

    6. XM_030250707.2 → XP_030106567.1  EH domain-binding protein 1-like protein 1 isoform X7

      Conserved Domains (2) summary
      pfam12130
      Location:364 → 495
      DUF3585; Protein of unknown function (DUF3585)
      cd21255
      Location:17 → 121
      CH_EHBP1L1; calponin homology (CH) domain found in EH domain-binding protein 1-like protein 1 and similar proteins

    7. XM_036161403.1 → XP_036017296.1  EH domain-binding protein 1-like protein 1 isoform X7

      Conserved Domains (2) summary
      pfam12130
      Location:364 → 495
      DUF3585; Protein of unknown function (DUF3585)
      cd21255
      Location:17 → 121
      CH_EHBP1L1; calponin homology (CH) domain found in EH domain-binding protein 1-like protein 1 and similar proteins

    8. XM_036161402.1 → XP_036017295.1  EH domain-binding protein 1-like protein 1 isoform X6

      Conserved Domains (2) summary
      pfam12130
      Location:454 → 585
      DUF3585; Protein of unknown function (DUF3585)
      cd21255
      Location:107 → 211
      CH_EHBP1L1; calponin homology (CH) domain found in EH domain-binding protein 1-like protein 1 and similar proteins

    RNA

    1. XR_003952738.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99MS7.1 GenPept UniProtKB/Swiss-Prot:Q99MS7

    Gene LinkOut

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

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