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EPB41L5 erythrocyte membrane protein band 4.1 like 5 [ Homo sapiens (human) ]

Gene ID: 57669, updated on 10-Dec-2024

Summary

Official Symbol
EPB41L5provided by HGNC
Official Full Name
erythrocyte membrane protein band 4.1 like 5provided by HGNC
Primary source
HGNC:HGNC:19819
See related
Ensembl:ENSG00000115109 MIM:611730; AllianceGenome:HGNC:19819
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
YRT; BE37; LULU; YMO1; LULU1
Summary
Predicted to enable cytoskeletal protein binding activity and protein domain specific binding activity. Predicted to be involved in actomyosin structure organization. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic foregut morphogenesis; and mesoderm morphogenesis. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Broad expression in testis (RPKM 10.7), thyroid (RPKM 7.3) and 24 other tissues See more
Orthologs
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Genomic context

See EPB41L5 in Genome Data Viewer
Location:
2q14.2
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (120013077..120179119)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (120447844..120613882)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (120770653..120936695)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12882 Neighboring gene uncharacterized LOC107985817 Neighboring gene ribosomal protein L27 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120825855-120826442 Neighboring gene uncharacterized LOC105373582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16455 Neighboring gene MT-ATP6 pseudogene 26 Neighboring gene MT-CO3 pseudogene 43

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ12957, KIAA1548

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific 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
 
involved_in apical constriction IEA
Inferred from Electronic Annotation
more info
 
involved_in axial mesoderm morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in ectoderm development IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic foregut morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in endoderm development IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in left/right axis specification IEA
Inferred from Electronic Annotation
more info
 
involved_in mesoderm migration involved in gastrulation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in neural plate morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in paraxial mesoderm development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of epithelial cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in post-transcriptional regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of establishment of protein localization IEA
Inferred from Electronic Annotation
more info
 
involved_in somite rostral/caudal axis specification IEA
Inferred from Electronic Annotation
more info
 
involved_in substrate-dependent cell migration, cell attachment to substrate IEA
Inferred from Electronic Annotation
more info
 
involved_in unidimensional cell growth IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in adherens junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in focal adhesion IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in ruffle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
band 4.1-like protein 5
Names
yurt homolog

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001184937.2NP_001171866.1  band 4.1-like protein 5 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region compared to variant 1. The resulting protein (isoform 2) has a shorter, distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC016691, AK023019, BC054508
    Consensus CDS
    CCDS54393.1
    UniProtKB/Swiss-Prot
    Q9HCM4
    Related
    ENSP00000393856.2, ENST00000443902.6
    Conserved Domains (5) summary
    smart00295
    Location:44235
    B41; Band 4.1 homologues
    cd13186
    Location:231324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:128235
    FERM_M; FERM central domain
    pfam08736
    Location:337377
    FA; FERM adjacent (FA)
    pfam09379
    Location:47109
    FERM_N; FERM N-terminal domain
  2. NM_001184938.4NP_001171867.1  band 4.1-like protein 5 isoform 3

    See identical proteins and their annotated locations for NP_001171867.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate exon in the 3' coding region compared to variant 1. The resulting protein (isoform 3) has a shorter, distinct C-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AC016691, BC032822
    Consensus CDS
    CCDS54392.1
    UniProtKB/TrEMBL
    Q4ZG32
    Related
    ENSP00000393722.1, ENST00000443124.5
    Conserved Domains (4) summary
    smart00295
    Location:44235
    B41; Band 4.1 homologues
    cd13186
    Location:231324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    cd17205
    Location:41126
    FERM_F1_EPB41L5; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in erythrocyte membrane protein band 4.1-like 5 (EPB41L5)
    pfam08736
    Location:337377
    FA; FERM adjacent (FA)
  3. NM_001184939.3NP_001171868.1  band 4.1-like protein 5 isoform 3

    See identical proteins and their annotated locations for NP_001171868.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) has a shorter, distinct C-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AC016691, AK290895
    Consensus CDS
    CCDS54392.1
    UniProtKB/TrEMBL
    Q4ZG32
    Related
    ENSP00000329687.4, ENST00000331393.8
    Conserved Domains (4) summary
    smart00295
    Location:44235
    B41; Band 4.1 homologues
    cd13186
    Location:231324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    cd17205
    Location:41126
    FERM_F1_EPB41L5; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in erythrocyte membrane protein band 4.1-like 5 (EPB41L5)
    pfam08736
    Location:337377
    FA; FERM adjacent (FA)
  4. NM_001330307.2NP_001317236.1  band 4.1-like protein 5 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in the 5' region, initiates translation at a downstream start codon, and contains an alternate 3' coding region and 3' UTR compared to variant 1. The encoded isoform (4) has a shorter N-terminus and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC016691
  5. NM_001330310.2NP_001317239.1  band 4.1-like protein 5 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC012363, AC016691, AC079879
    Consensus CDS
    CCDS82506.1
    UniProtKB/Swiss-Prot
    Q9HCM4
    Related
    ENSP00000390439.1, ENST00000452780.1
    Conserved Domains (5) summary
    smart00295
    Location:44235
    B41; Band 4.1 homologues
    cd13186
    Location:231324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:128235
    FERM_M; FERM central domain
    pfam08736
    Location:337377
    FA; FERM adjacent (FA)
    pfam09379
    Location:47109
    FERM_N; FERM N-terminal domain
  6. NM_020909.4NP_065960.2  band 4.1-like protein 5 isoform 1

    See identical proteins and their annotated locations for NP_065960.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC016691, BC054508
    Consensus CDS
    CCDS2130.1
    UniProtKB/Swiss-Prot
    Q7Z5S1, Q8IZ12, Q9H975, Q9HCM4
    Related
    ENSP00000263713.5, ENST00000263713.10
    Conserved Domains (5) summary
    smart00295
    Location:44235
    B41; Band 4.1 homologues
    cd13186
    Location:231324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:128235
    FERM_M; FERM central domain
    pfam08736
    Location:337377
    FA; FERM adjacent (FA)
    pfam09379
    Location:47109
    FERM_N; FERM N-terminal domain

RNA

  1. NR_135920.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016691, AK290895
  2. NR_138472.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016691

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    120013077..120179119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445208.1XP_047301164.1  band 4.1-like protein 5 isoform X1

  2. XM_047445210.1XP_047301166.1  band 4.1-like protein 5 isoform X2

    UniProtKB/Swiss-Prot
    Q7Z5S1, Q8IZ12, Q9H975, Q9HCM4
  3. XM_006712651.2XP_006712714.1  band 4.1-like protein 5 isoform X1

    See identical proteins and their annotated locations for XP_006712714.1

    Conserved Domains (5) summary
    smart00295
    Location:44235
    B41; Band 4.1 homologues
    cd13186
    Location:231324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:128235
    FERM_M; FERM central domain
    pfam08736
    Location:337377
    FA; FERM adjacent (FA)
    pfam09379
    Location:47109
    FERM_N; FERM N-terminal domain
  4. XM_017004567.1XP_016860056.1  band 4.1-like protein 5 isoform X1

    Conserved Domains (5) summary
    smart00295
    Location:44235
    B41; Band 4.1 homologues
    cd13186
    Location:231324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:128235
    FERM_M; FERM central domain
    pfam08736
    Location:337377
    FA; FERM adjacent (FA)
    pfam09379
    Location:47109
    FERM_N; FERM N-terminal domain
  5. XM_006712653.2XP_006712716.1  band 4.1-like protein 5 isoform X3

    Conserved Domains (5) summary
    smart00295
    Location:3163
    B41; Band 4.1 homologues
    cd13186
    Location:159252
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:56163
    FERM_M; FERM central domain
    pfam08736
    Location:265305
    FA; FERM adjacent (FA)
    pfam09379
    Location:337
    FERM_N; FERM N-terminal domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    120447844..120613882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343198.1XP_054199173.1  band 4.1-like protein 5 isoform X1

  2. XM_054343200.1XP_054199175.1  band 4.1-like protein 5 isoform X2

  3. XM_054343197.1XP_054199172.1  band 4.1-like protein 5 isoform X1

  4. XM_054343199.1XP_054199174.1  band 4.1-like protein 5 isoform X1

  5. XM_054343201.1XP_054199176.1  band 4.1-like protein 5 isoform X3