1. Gene
  2. EPB41L4A - erythrocyte membrane protein band 4.1 like 4A Gene

EPB41L4A - erythrocyte membrane protein band 4.1 like 4A Gene

Homo sapiens

Also known as NBL4; EPB41L4

Gene ID: 64097 | Gene type: protein coding

About EPB41L4A

Cytogenetic location: 5q22.1-q22.2 Genomic coordinates (GRCh38): 5:112,141,829-112,419,935 (from NCBI)

This gene has 10 transcripts (splice variants), 188 orthologues and 10 paralogues. Ubiquitous expression in gall bladder (RPKM 6.8), thyroid (RPKM 6.5) and 25 other tissues.

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]

EPB41L4A Products(3)

mRNA Protein Name
NM_001347887.2 NP_001334816.1 band 4.1-like protein 4A isoform 1
NM_001347888.2 NP_001334817.1 band 4.1-like protein 4A isoform 3
NM_022140.5 NP_071423.4 band 4.1-like protein 4A isoform 2

EPB41L4A Protein Structure

FERM_N

FERM_N: FERM N-terminal domain (15 - 100)

FERM_M

FERM_M: FERM central domain (102 - 211)

FERM_C

FERM_C: FERM C-terminal PH-like domain (217 - 300)

FA

FA: FERM adjacent (FA) (310 - 356)

  • 0
  • 200
  • 400
  • 600
  • 686 a.a.
Protein Preferred Names Protein Names

band 4.1-like protein 4A

erythrocyte protein band 4.1-like 4

Related Diseases

Diseases Alias
Failure Of Tooth Eruption, Primary

Primary Failure Of Tooth Eruption

PFE

Primary Retention Of Teeth

Unerupted Second Primary Molar

Dental Noneruption

Familial Posterior Openbite Malocclusion

Primary Failure Of Tooth Eruption, Nonsyndromic

Posterior Openbite Malocclusion, Familial

Nonsyndromic Primary Failure Of Eruption

Dental Non-Eruption

Non-Syndromic Primary Failure Of Eruption

Tooth Eruption, Failure, Primary

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus EPB41L4A RGD RGD:1306034
Bos taurus EPB41L4A VGNC VGNC:28523
Mus musculus EPB41L4A MGD MGI:103007
Canis familiaris EPB41L4A VGNC VGNC:40396
Felis catus EPB41L4A VGNC VGNC:61895
Macaca mulatta EPB41L4A VGNC VGNC:72039