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

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, Apr 2022]
Expression: Broad expression in testis (RPKM 10.7), thyroid (RPKM 7.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q14.2

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (120013077..120179119)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (120447844..120613882)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (120770653..120936695)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5.
Title: ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5.
EPB41L5 promotes EMT through the ERK/p38 MAPK signaling pathway in esophageal squamous cell carcinoma.
Title: EPB41L5 promotes EMT through the ERK/p38 MAPK signaling pathway in esophageal squamous cell carcinoma.
EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission.
Title: EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission.
Increased expression of Erythrocyte membrane protein band 4.1-like 5 ( EPB41L5) in gastric cancer associated with poor prognosis and low survival rate. In experimental models, EPB41L5 mediated TGF induces metastasis.
Title: EPB41L5 Mediates TGFβ-Induced Metastasis of Gastric Cancer.
These results support further investigation into whether EPB41L5 is a biomarker of PNETs with high risk for metastases
Title: EPB41L5 is Associated With the Metastatic Potential of Low-grade Pancreatic Neuroendocrine Tumors.
Arf6 appears to be necessary for both RhoA- and Rac1-driven cancer invasion
Title: Arf6 and its ZEB1-EPB41L5 mesenchymal axis are required for both mesenchymal- and amoeboid-type invasion of cancer cells.
A diminution of EPB41L5-dependent signaling programs appears to be a common theme of podocyte disease, and therefore offers unexpected interventional therapeutic strategies to prevent podocyte loss and kidney disease progression.
Title: The FERM protein EPB41L5 regulates actomyosin contractility and focal adhesion formation to maintain the kidney filtration barrier.
YMO1 suppresses tumor invasion and metastasis by inhibiting RhoC activity.
Title: YMO1 suppresses invasion and metastasis by inhibiting RhoC signaling and predicts favorable prognosis in hepatocellular carcinoma.
The Squamous cell carcinoma of the tongue cell line SCC-9, which overexpress Arf6 and AMAP1, also expressed EPB41L5 at high levels to promote invasiveness, whereas the weakly invasive SCC-25 cells did not express EPB41L5 at notable levels.
Title: High expression of EPB41L5, an integral component of the Arf6-driven mesenchymal program, correlates with poor prognosis of squamous cell carcinoma of the tongue.
the importance of a conserved Crumbs-MPP5-EPB41L5 polarity complex in mammals for separation of the apical and basolateral domains through specialized cell-cell junctions
Title: FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.

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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
Genetic variants associated with breast size also influence breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93110 (e-PCR)
- UniSTS:91663

D2S2125 (e-PCR)
- UniSTS:88358

A002V05 (e-PCR)
- UniSTS:35623

RH103567 (e-PCR)
- UniSTS:97892

RH79778 (e-PCR)
- UniSTS:91504

SHGC-36338 (e-PCR)
- UniSTS:77212

SHGC-105731 (e-PCR)
- UniSTS:169393

NIB1668 (e-PCR)
- UniSTS:42714

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

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Preferred Names: band 4.1-like protein 5

Names: yurt homolog

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)

NM_001184937.2 → NP_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:44 → 235

B41; Band 4.1 homologues

cd13186
Location:231 → 324

FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)

pfam00373
Location:128 → 235

FERM_M; FERM central domain

pfam08736
Location:337 → 377

FA; FERM adjacent (FA)

pfam09379
Location:47 → 109

FERM_N; FERM N-terminal domain
NM_001184938.4 → NP_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:44 → 235

B41; Band 4.1 homologues

cd13186
Location:231 → 324

FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)

cd17205
Location:41 → 126

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:337 → 377

FA; FERM adjacent (FA)
NM_001184939.3 → NP_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:44 → 235

B41; Band 4.1 homologues

cd13186
Location:231 → 324

FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)

cd17205
Location:41 → 126

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:337 → 377

FA; FERM adjacent (FA)
NM_001330307.2 → NP_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
NM_001330310.2 → NP_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:44 → 235

B41; Band 4.1 homologues

cd13186
Location:231 → 324

FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)

pfam00373
Location:128 → 235

FERM_M; FERM central domain

pfam08736
Location:337 → 377

FA; FERM adjacent (FA)

pfam09379
Location:47 → 109

FERM_N; FERM N-terminal domain
NM_020909.4 → NP_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:44 → 235

B41; Band 4.1 homologues

cd13186
Location:231 → 324

FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)

pfam00373
Location:128 → 235

FERM_M; FERM central domain

pfam08736
Location:337 → 377

FA; FERM adjacent (FA)

pfam09379
Location:47 → 109

FERM_N; FERM N-terminal domain

RNA

NR_135920.3 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC016691, AK290895
NR_138472.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC016691

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

120013077..120179119

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047445208.1 → XP_047301164.1 band 4.1-like protein 5 isoform X1
XM_047445210.1 → XP_047301166.1 band 4.1-like protein 5 isoform X2

UniProtKB/Swiss-Prot

Q7Z5S1, Q8IZ12, Q9H975, Q9HCM4
XM_006712651.2 → XP_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:44 → 235

B41; Band 4.1 homologues

cd13186
Location:231 → 324

FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)

pfam00373
Location:128 → 235

FERM_M; FERM central domain

pfam08736
Location:337 → 377

FA; FERM adjacent (FA)

pfam09379
Location:47 → 109

FERM_N; FERM N-terminal domain
XM_017004567.1 → XP_016860056.1 band 4.1-like protein 5 isoform X1

Conserved Domains (5) summary

smart00295
Location:44 → 235

B41; Band 4.1 homologues

cd13186
Location:231 → 324

FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)

pfam00373
Location:128 → 235

FERM_M; FERM central domain

pfam08736
Location:337 → 377

FA; FERM adjacent (FA)

pfam09379
Location:47 → 109

FERM_N; FERM N-terminal domain
XM_006712653.2 → XP_006712716.1 band 4.1-like protein 5 isoform X3

Conserved Domains (5) summary

smart00295
Location:3 → 163

B41; Band 4.1 homologues

cd13186
Location:159 → 252

FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)

pfam00373
Location:56 → 163

FERM_M; FERM central domain

pfam08736
Location:265 → 305

FA; FERM adjacent (FA)

pfam09379
Location:3 → 37

FERM_N; FERM N-terminal domain