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    EPB41L4A erythrocyte membrane protein band 4.1 like 4A [ Homo sapiens (human) ]

    Gene ID: 64097, updated on 5-Mar-2024

    Summary

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    Official Symbol
    EPB41L4Aprovided by HGNC
    Official Full Name
    erythrocyte membrane protein band 4.1 like 4Aprovided by HGNC
    Primary source
    HGNC:HGNC:13278
    See related
    Ensembl:ENSG00000129595 MIM:612141; AllianceGenome:HGNC:13278
    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
    NBL4; EPB41L4
    Summary
    The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in gall bladder (RPKM 6.8), thyroid (RPKM 6.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q22.1-q22.2
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (112141829..112419935, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (112652255..112930859, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (111478137..111754974, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene neuronal regeneration related protein Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 14 Neighboring gene NREP antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:111326855-111327356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:111327357-111327856 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:111333199-111334398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22904 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:111496090-111497289 Neighboring gene EPB41L4A antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:111501161-111501838 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:111501839-111502516 Neighboring gene uncharacterized LOC124901044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:111553293-111553794 Neighboring gene small nucleolar RNA, H/ACA box 13 Neighboring gene uncharacterized LOC101927023 Neighboring gene NANOG hESC enhancer GRCh37_chr5:111573109-111573620 Neighboring gene NANOG hESC enhancer GRCh37_chr5:111665295-111665825 Neighboring gene Sharpr-MPRA regulatory region 6283 Neighboring gene MPRA-validated peak5419 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:111722519-111723020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:111723021-111723520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16236 Neighboring gene EPB41L4A divergent transcript Neighboring gene high mobility group box 3 pseudogene 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:111839317-111839816 Neighboring gene uncharacterized LOC124901043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:111858695-111859196

    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. 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
    2. Molecular cloning of a novel NF2/ERM/4.1 superfamily gene, ehm2, that is expressed in high-metastatic K1735 murine melanoma cells. Shimizu K, et al. Genomics, 2000 Apr 15. PMID 10783258
    3. 3,400 new expressed sequence tags identify diversity of transcripts in human brain. Adams MD, et al. Nat Genet, 1993 Jul. PMID 8358434
    4. Structural diversity of band 4.1 superfamily members. Takeuchi K, et al. J Cell Sci, 1994 Jul. PMID 7983158
    5. Epb41l5 competes with Delta as a substrate for Mib1 to coordinate specification and differentiation of neurons. Matsuda M, et al. Development, 2016 Sep 1. PMID 27510968, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38738, DKFZp566L203

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytoskeletal protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    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

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_052950.1 RefSeqGene

      Range
      5040..261698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001347887.2 → NP_001334816.1  band 4.1-like protein 4A isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA350575, AB030240, AC010261, AK096057, BC031042, BC114632, BF431603, CB048933

    2. NM_001347888.2 → NP_001334817.1  band 4.1-like protein 4A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple exons and its 3' terminal exon extends past a splice site that is used in variant 1, resulting in a novel 3' UTR. The encoded isoform (3) has a significantly shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC104126, BC031042
      UniProtKB/TrEMBL
      Q8NEH8
      Related
      ENST00000305368.8
      Conserved Domains (1) summary
      smart00295
      Location:13 → 184
      B41; Band 4.1 homologues

    3. NM_022140.5 → NP_071423.4  band 4.1-like protein 4A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two consecutive exons at the 3' end, and includes an alternate 3' terminal exon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA350575, AB030240, AC010261, AK096057, BC015441, BC031042, BC114632, CB048933
      Consensus CDS
      CCDS43350.1
      UniProtKB/Swiss-Prot
      A4FUI6, Q9HCS5
      Related
      ENSP00000261486.5, ENST00000261486.6

    RNA

    1. NR_144931.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site at an internal exon and has an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA350575, AB030240, AC010261, AK096057, BC015441, BC031042, BC114632, BX109898, CB048933

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      112141829..112419935 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543531.4 → XP_011541833.1  band 4.1-like protein 4A isoform X2

      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

    2. XM_047417471.1 → XP_047273427.1  band 4.1-like protein 4A isoform X1

    3. XM_011543532.3 → XP_011541834.1  band 4.1-like protein 4A isoform X3

      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

    4. XM_047417472.1 → XP_047273428.1  band 4.1-like protein 4A isoform X1

    5. XM_011543533.3 → XP_011541835.1  band 4.1-like protein 4A isoform X5

      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

    6. XM_047417476.1 → XP_047273432.1  band 4.1-like protein 4A isoform X6

    7. XM_047417474.1 → XP_047273430.1  band 4.1-like protein 4A isoform X4

      UniProtKB/Swiss-Prot
      A4FUI6, Q9HCS5

    8. XM_047417475.1 → XP_047273431.1  band 4.1-like protein 4A isoform X4

      UniProtKB/Swiss-Prot
      A4FUI6, Q9HCS5

    9. XM_047417477.1 → XP_047273433.1  band 4.1-like protein 4A isoform X7

    10. XM_047417478.1 → XP_047273434.1  band 4.1-like protein 4A isoform X7

    11. XM_047417479.1 → XP_047273435.1  band 4.1-like protein 4A isoform X8

    RNA

    1. XR_001742173.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      112652255..112930859 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353051.1 → XP_054209026.1  band 4.1-like protein 4A isoform X2

    2. XM_054353056.1 → XP_054209031.1  band 4.1-like protein 4A isoform X9

    3. XM_054353054.1 → XP_054209029.1  band 4.1-like protein 4A isoform X5

    4. XM_054353052.1 → XP_054209027.1  band 4.1-like protein 4A isoform X3

    5. XM_054353053.1 → XP_054209028.1  band 4.1-like protein 4A isoform X4

    6. XM_054353057.1 → XP_054209032.1  band 4.1-like protein 4A isoform X10

    7. XM_054353055.1 → XP_054209030.1  band 4.1-like protein 4A isoform X6

    8. XM_054353058.1 → XP_054209033.1  band 4.1-like protein 4A isoform X7

    9. XM_054353059.1 → XP_054209034.1  band 4.1-like protein 4A isoform X7

    10. XM_054353060.1 → XP_054209035.1  band 4.1-like protein 4A isoform X8

    RNA

    1. XR_008487141.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCS5.2 GenPept UniProtKB/Swiss-Prot:Q9HCS5

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