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EPB41 (erythrocyte membrane protein band 4.1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2035
Gene nameGene Name - the full gene name approved by the HGNC.
Erythrocyte membrane protein band 4.1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EPB41
SynonymsGene synonyms aliases
4.1R, EL1, HE
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p35.3
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 ellipto
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121434564 T>C,G Pathogenic Initiator codon variant, missense variant, coding sequence variant
rs869025285 GAATCAG>- Pathogenic Coding sequence variant, frameshift variant
rs1477424620 G>C,T Likely-pathogenic Intron variant, splice donor variant
rs1557948192 A>G Pathogenic Coding sequence variant, missense variant, initiator codon variant
rs1557948590 T>G Pathogenic Stop gained, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019288 hsa-miR-148b-3p Microarray 17612493
MIRT044608 hsa-miR-320a CLASH 23622248
MIRT043725 hsa-miR-342-3p CLASH 23622248
MIRT038089 hsa-miR-423-5p CLASH 23622248
MIRT037204 hsa-miR-877-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005200 Function Structural constituent of cytoskeleton TAS 6894932
GO:0005515 Function Protein binding IPI 8922391, 10692436, 11003675, 16060676, 16254212, 16669616, 20109190, 23870127, 24996901
GO:0005516 Function Calmodulin binding IEA
GO:0005545 Function 1-phosphatidylinositol binding IDA 16669616
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P11171
Protein name Protein 4.1 (P4.1) (4.1R) (Band 4.1) (EPB4.1) (Erythrocyte membrane protein band 4.1)
Protein function Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to
PDB 1GG3 , 2RQ1 , 3QIJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N
214 277
FERM N-terminal domain
Domain
PF00373 FERM_M
292 401
FERM central domain
Domain
PF09380 FERM_C
405 494
FERM C-terminal PH-like domain
Domain
PF08736 FA
499 542
FERM adjacent (FA)
Family
PF04382 SAB
667 715
SAB domain
Domain
PF05902 4_1_CTD
753 860
4.1 protein C-terminal domain (CTD)
Domain
Sequence
MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDT
PTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGT
SLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECS
KIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVC
EHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRG
VPWNFTFNVKFYPPDPAQLTEDI
TRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQT
KELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLH
KAKDLEGVDIILGVCSSGL
LVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVC
VEHHTFFRLTSTDT
IPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRAS
RS
LDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKED
EPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIY
IRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNIN
GQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLD
PGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKE
AKEQHPDMSVTKVVVHQETE
IADE
Sequence length 864
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Neurexins and neuroligins
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Hemolytic, Anemia, Hemolytic, Congenital, stomatocytic anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cholelithiasis Cholelithiasis rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Elliptocytosis Elliptocytosis, Hereditary, Elliptocytosis 1 rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs121434564 23664421, 1430200, 3134067, 1430200, 3134067
Hereditary elliptocytosis Hereditary elliptocytosis rs869025285
Unknown
Disease name Disease term dbSNP ID References
Frontal bossing Frontal bossing

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