EPB41 (erythrocyte membrane protein band 4.1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2035 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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EPB41 |
SynonymsGene synonyms aliases
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4.1R, EL1, HE |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p35.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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Cholelithiasis |
Cholelithiasis |
rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752 |
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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 |
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Hydrops fetalis |
Hydrops Fetalis |
rs28935477, rs1131691986 |
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Hyperbilirubinemia |
Hyperbilirubinemia, Neonatal |
rs34993780, rs587784535, rs797046090, rs797046091 |
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Melanoma |
melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 |
17145863 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Frontal bossing |
Frontal bossing |
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