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EPB41L4B erythrocyte membrane protein band 4.1 like 4B [ Homo sapiens (human) ]

Gene ID: 54566, updated on 17-Jun-2019

Summary

Official Symbol
EPB41L4Bprovided by HGNC
Official Full Name
erythrocyte membrane protein band 4.1 like 4Bprovided by HGNC
Primary source
HGNC:HGNC:19818
See related
Ensembl:ENSG00000095203 MIM:610340
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
CG1; EHM2
Expression
Broad expression in colon (RPKM 20.8), thyroid (RPKM 15.3) and 18 other tissues See more
Orthologs

Genomic context

See EPB41L4B in Genome Data Viewer
Location:
9q31.3
Exon count:
28
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (109171974..109320964, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (111934254..112083021, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 245 Neighboring gene microRNA 32 Neighboring gene ferric chelate reductase 1 like Neighboring gene RNA, U6 small nuclear 984, pseudogene Neighboring gene uncharacterized LOC107987113 Neighboring gene MT-ND2 pseudogene 11 Neighboring gene protein tyrosine phosphatase non-receptor type 3 Neighboring gene HNF1 motif-containing MPRA enhancer 98 Neighboring gene microRNA 3927

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21596, DKFZp761N1814

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actomyosin structure organization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of keratinocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT regulation of keratinocyte proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
wound healing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
apical part of cell IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
band 4.1-like protein 4B
Names
FERM-containing protein CG1

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.

mRNA and Protein(s)

  1. NM_018424.3NP_060894.2  band 4.1-like protein 4B isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 1 which is shorter and has a distinct C-terminus, compared to isoform 2.
    Source sequence(s)
    AB032179, AF153416, AF153418, AI432950, AK000388
    Consensus CDS
    CCDS43860.1
    UniProtKB/Swiss-Prot
    Q9H329
    UniProtKB/TrEMBL
    Q9NX84
    Related
    ENSP00000363685.3, ENST00000374557.4
    Conserved Domains (3) summary
    smart00295
    Location:87277
    B41; Band 4.1 homologues
    cd13186
    Location:273366
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam08736
    Location:379419
    FA; FERM adjacent (FA)
  2. NM_019114.4NP_061987.3  band 4.1-like protein 4B isoform 2

    See identical proteins and their annotated locations for NP_061987.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
    Source sequence(s)
    AB032179, AB209187, AF153416, AL353947, AL358815, R39224
    Consensus CDS
    CCDS43859.1
    UniProtKB/Swiss-Prot
    Q9H329
    UniProtKB/TrEMBL
    Q59GC2, Q9NSG9
    Related
    ENSP00000363694.3, ENST00000374566.7
    Conserved Domains (5) summary
    smart00295
    Location:87277
    B41; Band 4.1 homologues
    cd13186
    Location:273366
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:170277
    FERM_M; FERM central domain
    pfam08736
    Location:379419
    FA; FERM adjacent (FA)
    pfam09379
    Location:89151
    FERM_N; FERM N-terminal domain

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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    109171974..109320964 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518790.1XP_011517092.1  band 4.1-like protein 4B isoform X1

    Conserved Domains (5) summary
    smart00295
    Location:87277
    B41; Band 4.1 homologues
    cd13186
    Location:273366
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:170277
    FERM_M; FERM central domain
    pfam08736
    Location:379419
    FA; FERM adjacent (FA)
    pfam09379
    Location:89151
    FERM_N; FERM N-terminal domain
  2. XM_017014815.1XP_016870304.1  band 4.1-like protein 4B isoform X7

  3. XM_017014814.1XP_016870303.1  band 4.1-like protein 4B isoform X5

  4. XM_011518791.2XP_011517093.1  band 4.1-like protein 4B isoform X2

    Conserved Domains (5) summary
    smart00295
    Location:87277
    B41; Band 4.1 homologues
    cd13186
    Location:273366
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:170277
    FERM_M; FERM central domain
    pfam08736
    Location:379419
    FA; FERM adjacent (FA)
    pfam09379
    Location:89151
    FERM_N; FERM N-terminal domain
  5. XM_011518794.2XP_011517096.1  band 4.1-like protein 4B isoform X6

    Conserved Domains (5) summary
    smart00295
    Location:87277
    B41; Band 4.1 homologues
    cd13186
    Location:273366
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:170277
    FERM_M; FERM central domain
    pfam08736
    Location:379419
    FA; FERM adjacent (FA)
    pfam09379
    Location:89151
    FERM_N; FERM N-terminal domain
  6. XM_011518792.2XP_011517094.1  band 4.1-like protein 4B isoform X4

    Conserved Domains (5) summary
    smart00295
    Location:87277
    B41; Band 4.1 homologues
    cd13186
    Location:273366
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:170277
    FERM_M; FERM central domain
    pfam08736
    Location:379419
    FA; FERM adjacent (FA)
    pfam09379
    Location:89151
    FERM_N; FERM N-terminal domain
  7. XM_017014813.1XP_016870302.1  band 4.1-like protein 4B isoform X3

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