U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See EPB41L4A in Genome Data Viewer
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
band 4.1-like protein 4A
Names
erythrocyte protein band 4.1-like 4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous