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    Epb41l4a erythrocyte membrane protein band 4.1 like 4a [ Mus musculus (house mouse) ]

    Gene ID: 13824, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Epb41l4aprovided by MGI
    Official Full Name
    erythrocyte membrane protein band 4.1 like 4aprovided by MGI
    Primary source
    MGI:MGI:103007
    See related
    Ensembl:ENSMUSG00000024376 AllianceGenome:MGI:103007
    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
    NBL4; Epb4.1l4; Epb4.1l4a
    Summary
    Predicted to enable cytoskeletal protein binding activity. Predicted to be involved in actomyosin structure organization. Predicted to be located in cytoplasm. Predicted to be active in cytoskeleton. Is expressed in several structures, including alimentary system; female reproductive system; nervous system; sensory organ; and skin. Orthologous to human EPB41L4A (erythrocyte membrane protein band 4.1 like 4A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 2.9), whole brain E14.5 (RPKM 2.8) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Epb41l4a in Genome Data Viewer
    Location:
    18 B1; 18 18.19 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (33929380..34143678, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (33796327..34007484, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 54016 Neighboring gene STARR-seq mESC enhancer starr_44172 Neighboring gene erythrocyte membrane protein band 4.1 like 4a, opposite strand Neighboring gene predicted gene, 23639 Neighboring gene STARR-seq mESC enhancer starr_44177 Neighboring gene STARR-seq mESC enhancer starr_44180 Neighboring gene STARR-seq mESC enhancer starr_44187 Neighboring gene predicted gene, 22788 Neighboring gene predicted gene, 50265 Neighboring gene peptidylprolyl isomerase A pseudogene 18_318.1

    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. Structural variants in the Epb41l4a locus: TAD disruption and Nrep gene misregulation as hypothetical drivers of neurodevelopmental outcomes. Salnikov P, et al. Sci Rep, 2024 Mar 4. PMID 38438377, Free PMC Article
    2. Isolation and characterization of human NBL4, a gene involved in the beta-catenin/tcf signaling pathway. Ishiguro H, et al. Jpn J Cancer Res, 2000 Jun. PMID 10874211, Free PMC Article
    3. Structural diversity of band 4.1 superfamily members. Takeuchi K, et al. J Cell Sci, 1994 Jul. PMID 7983158
    4. Discovery and validation of genes driving drug-intake and related behavioral traits in mice. Roy TA, et al. Genes Brain Behav, 2024 Jan 2. PMID 38164795, Free PMC Article
    5. Effects of glucokinase haploinsufficiency on the pancreatic β-cell mass and function of long-term high-fat, high-sucrose diet-fed mice. Shigesawa I, et al. J Diabetes Investig, 2024 Dec. PMID 39305123, Free PMC Article

    See all (28) 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) 
    • Targeted (2) 

    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 cytoskeletal protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    band 4.1-like protein 4A
    Names
    erythrocyte protein band 4.1-like 4
    erythrocyte protein band 4.1-like 4a

    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_013512.2 → NP_038540.2  band 4.1-like protein 4A

      See identical proteins and their annotated locations for NP_038540.2

      Status: VALIDATED

      Source sequence(s)
      AC150277, AK140485, BE631863, CB246498, CX204315
      Consensus CDS
      CCDS29124.1
      UniProtKB/Swiss-Prot
      P52963, Q91VX6
      Related
      ENSMUSP00000025234.6, ENSMUST00000025234.7
      Conserved Domains (5) summary
      smart00295
      Location:13 → 211
      B41; Band 4.1 homologues
      cd13186
      Location:207 → 296
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam00373
      Location:105 → 211
      FERM_M; FERM central domain
      pfam08736
      Location:311 → 354
      FA; FERM adjacent (FA)
      pfam09379
      Location:15 → 80
      FERM_N; FERM N-terminal domain

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      33929380..34143678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525627.5 → XP_006525690.1  band 4.1-like protein 4A isoform X1

      Conserved Domains (3) summary
      smart00295
      Location:29 → 176
      B41; Band 4.1 homologues
      cd13186
      Location:172 → 261
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:276 → 319
      FA; FERM adjacent (FA)

    2. XM_030250329.2 → XP_030106189.1  band 4.1-like protein 4A isoform X4

      Conserved Domains (3) summary
      smart00295
      Location:1 → 74
      B41; Band 4.1 homologues
      cd13186
      Location:70 → 159
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:174 → 217
      FA; FERM adjacent (FA)

    3. XM_006525628.5 → XP_006525691.1  band 4.1-like protein 4A isoform X2

      Conserved Domains (3) summary
      smart00295
      Location:13 → 211
      B41; Band 4.1 homologues
      cd13186
      Location:207 → 296
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:311 → 354
      FA; FERM adjacent (FA)

    4. XM_030250328.2 → XP_030106188.1  band 4.1-like protein 4A isoform X4

      Conserved Domains (3) summary
      smart00295
      Location:1 → 74
      B41; Band 4.1 homologues
      cd13186
      Location:70 → 159
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:174 → 217
      FA; FERM adjacent (FA)

    5. XM_030250326.2 → XP_030106186.1  band 4.1-like protein 4A isoform X4

      Conserved Domains (3) summary
      smart00295
      Location:1 → 74
      B41; Band 4.1 homologues
      cd13186
      Location:70 → 159
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:174 → 217
      FA; FERM adjacent (FA)

    6. XM_030250330.2 → XP_030106190.1  band 4.1-like protein 4A isoform X4

      Conserved Domains (3) summary
      smart00295
      Location:1 → 74
      B41; Band 4.1 homologues
      cd13186
      Location:70 → 159
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:174 → 217
      FA; FERM adjacent (FA)

    7. XM_011246840.3 → XP_011245142.1  band 4.1-like protein 4A isoform X4

      See identical proteins and their annotated locations for XP_011245142.1

      Conserved Domains (3) summary
      smart00295
      Location:1 → 74
      B41; Band 4.1 homologues
      cd13186
      Location:70 → 159
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:174 → 217
      FA; FERM adjacent (FA)

    8. XM_006525629.2 → XP_006525692.1  band 4.1-like protein 4A isoform X3

      Conserved Domains (3) summary
      smart00295
      Location:9 → 151
      B41; Band 4.1 homologues
      cd13186
      Location:147 → 236
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:251 → 294
      FA; FERM adjacent (FA)

    9. XM_006525631.5 → XP_006525694.1  band 4.1-like protein 4A isoform X4

      See identical proteins and their annotated locations for XP_006525694.1

      Conserved Domains (3) summary
      smart00295
      Location:1 → 74
      B41; Band 4.1 homologues
      cd13186
      Location:70 → 159
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:174 → 217
      FA; FERM adjacent (FA)

    10. XM_006525635.5 → XP_006525698.1  band 4.1-like protein 4A isoform X5

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52963.2 GenPept UniProtKB/Swiss-Prot:P52963

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