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

Gene ID: 64097, updated on 17-Jun-2019

Summary

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
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

Genomic context

See EPB41L4A in Genome Data Viewer
Location:
5q22.1-q22.2
Exon count:
26
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (112141829..112419316, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (111478139..111755187, 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 EPB41L4A antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 13 Neighboring gene uncharacterized LOC101927023 Neighboring gene EPB41L4A divergent transcript Neighboring gene high mobility group box 3 pseudogene 16

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38738, DKFZp566L203

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..281875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001347887.2NP_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
    UniProtKB/Swiss-Prot
    Q9HCS5
    UniProtKB/TrEMBL
    Q8N8X1, Q8NEH8
  2. NM_001347888.2NP_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
    Conserved Domains (1) summary
    smart00295
    Location:13184
    B41; Band 4.1 homologues
  3. NM_022140.5NP_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
    Q9HCS5
    UniProtKB/TrEMBL
    Q8N8X1, Q8NEH8
    Related
    ENSP00000482810.1, ENST00000621003.4

RNA

  1. NR_144931.1 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, AC010265, AK096057, BC015441, BC031042, BC114632, BX109898, CB048933

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    112141829..112419316 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543531.3XP_011541833.1  band 4.1-like protein 4A isoform X1

    Conserved Domains (5) summary
    smart00295
    Location:13211
    B41; Band 4.1 homologues
    cd13186
    Location:207296
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:105211
    FERM_M; FERM central domain
    pfam08736
    Location:311354
    FA; FERM adjacent (FA)
    pfam09379
    Location:1580
    FERM_N; FERM N-terminal domain
  2. XM_011543533.2XP_011541835.1  band 4.1-like protein 4A isoform X3

    Conserved Domains (5) summary
    smart00295
    Location:13211
    B41; Band 4.1 homologues
    cd13186
    Location:207296
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:105211
    FERM_M; FERM central domain
    pfam08736
    Location:311354
    FA; FERM adjacent (FA)
    pfam09379
    Location:1580
    FERM_N; FERM N-terminal domain
  3. XM_011543532.2XP_011541834.1  band 4.1-like protein 4A isoform X2

    Conserved Domains (5) summary
    smart00295
    Location:13211
    B41; Band 4.1 homologues
    cd13186
    Location:207296
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:105211
    FERM_M; FERM central domain
    pfam08736
    Location:311354
    FA; FERM adjacent (FA)
    pfam09379
    Location:1580
    FERM_N; FERM N-terminal domain
  4. XM_017009689.2XP_016865178.1  band 4.1-like protein 4A isoform X4

RNA

  1. XR_001742173.2 RNA Sequence

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