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

Gene ID: 57669, updated on 3-Jun-2018
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; Vega:OTTHUMG00000131433
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; YMO1
Expression
Broad expression in testis (RPKM 10.7), thyroid (RPKM 7.3) and 24 other tissues See more
Orthologs
See EPB41L5 in Genome Data Viewer
Location:
2q14.2
Exon count:
28
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (120013028..120179121)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (120770604..120936697)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985817 Neighboring gene ribosomal protein L27 pseudogene 7 Neighboring gene uncharacterized LOC105373582 Neighboring gene MT-ATP6 pseudogene 26 Neighboring gene MT-CO3 pseudogene 43

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
    Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
    Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ12957, KIAA1548

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical constriction IEA
Inferred from Electronic Annotation
more info
 
axial mesoderm morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
 
ectoderm development IEA
Inferred from Electronic Annotation
more info
 
embryonic foregut morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endoderm development IEA
Inferred from Electronic Annotation
more info
 
epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
left/right axis specification IEA
Inferred from Electronic Annotation
more info
 
mesoderm migration involved in gastrulation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
neural plate morphogenesis IEA
Inferred from Electronic Annotation
more info
 
paraxial mesoderm development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
positive regulation of focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
posttranscriptional regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of establishment of protein localization IEA
Inferred from Electronic Annotation
more info
 
somite rostral/caudal axis specification IEA
Inferred from Electronic Annotation
more info
 
substrate-dependent cell migration, cell attachment to substrate IEA
Inferred from Electronic Annotation
more info
 
unidimensional cell growth IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
band 4.1-like protein 5
Names
yurt homolog

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_001184937.1NP_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, DB524549
    Consensus CDS
    CCDS54393.1
    UniProtKB/Swiss-Prot
    Q9HCM4
    Related
    ENSP00000393856.2, OTTHUMP00000203672, ENST00000443902.6, OTTHUMT00000330682
    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_001184938.3NP_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/Swiss-Prot
    Q9HCM4
    Related
    ENSP00000393722.1, OTTHUMP00000203710, ENST00000443124.5, OTTHUMT00000330756
    Conserved Domains (3) 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)
    pfam08736
    Location:337377
    FA; FERM adjacent (FA)
  3. NM_001184939.2NP_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/Swiss-Prot
    Q9HCM4
    Related
    ENSP00000329687.4, OTTHUMP00000206733, ENST00000331393.8, OTTHUMT00000337178
    Conserved Domains (3) 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)
    pfam08736
    Location:337377
    FA; FERM adjacent (FA)
  4. NM_001330307.1NP_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_001330310.1NP_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_020909.3NP_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, DB524549
    Consensus CDS
    CCDS2130.1
    UniProtKB/Swiss-Prot
    Q9HCM4
    Related
    ENSP00000263713.5, OTTHUMP00000162130, ENST00000263713.9, OTTHUMT00000254230
    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_135920.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016691, AK290895
  2. NR_138472.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016691

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    120013028..120179121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712653.1XP_006712716.1  band 4.1-like protein 5 isoform X2

    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
  2. XM_006712651.1XP_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
  3. 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
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