| Gene ID | 2035 |
| Symbol | EPB41 |
| Synonymous | 4.1R|EL1|HE |
| Full name | erythrocyte membrane protein band 4.1 |
| Gene description | EPB4.1|P4.1|band 4.1|elliptocytosis 1, RH-linked|erythrocyte surface protein band 4.1|protein 4.1 |
| Cytoband | 1p33-p32 |
| Gene type | protein-coding |
| Synonymous | MIM:130500; HGNC:HGNC:3377; Ensembl:ENSG00000159023; HPRD:00558; Vega:OTTHUMG00000003644 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Tight junction;KEGG PATHWAY;hsa04530 |
Pathway | Syndecan-2-mediated signaling events;PID Curated;200164 |
Disease | Hematologic diseases;KEGG DISEASE |
Disease | Neuroblastoma;FunDO |
Disease | Circulatory system diseases;KEGG DISEASE |
Disease | Ependymoma;FunDO |
Disease | Meningioma;FunDO |
Disease | Elliptocytosis-1;OMIM |
Disease | Hereditary elliptocytosis;KEGG DISEASE;H00231 |
Sequence Information | |
|---|---|
Nucleotide Sequence | >2035 : length: 6527 GAAGGCGGGAGGGCGCGCGCCAGGGTCGCTCGCTCGCTCCCTCCCTCCGCTGGTGCGTTTAGTCAGTCAGCCAGCAGCAGCCGGCGGGCCCGCGAGCCGCAGAGGGCCCGAGCCTCGGAC GCCGGCGCCTCCTCCTGCCATTGTTCGTCGGGCTGCAGCAGTGGCGGGCGCAGGAGCCCGGCCCCGGAGCCACCGCAACATCATGACAACAGAGAAGAGTTTAGTGACTGAGGCCGAAAA TTCACAGCACCAACAGAAGGAAGAGGGTGAGGAAGCCATAAACTCAGGCCAACAAGAACCTCAGCAGGAGGAATCTTGTCAAACAGCAGCTGAAGGAGATAATTGGTGTGAACAGAAGCT GAAAGCTTCTAATGGAGACACTCCTACACATGAAGACTTGACCAAGAACAAGGAGCGGACATCAGAAAGCAGAGGACTTTCACGACTATTCTCCTCGTTTCTCAAAAGGCCCAAATCTCA GGTGTCCGAGGAAGAAGGCAAAGAAGTAGAGTCAGATAAAGAAAAAGGTGAAGGAGGTCAGAAAGAGATAGAATTTGGAACCAGTCTTGATGAAGAGATCATTTTAAAGGCCCCAATTGC AGCTCCTGAACCGGAACTCAAAACAGACCCATCTTTGGATCTTCATTCATTAAGCAGTGCAGAAACACAGCCTGCTCAGGAAGAACTCAGAGAAGATCCAGATTTTGAAATTAAGGAAGG AGAAGGACTTGAAGAGTGCTCCAAAATAGAAGTAAAAGAAGAAAGCCCTCAATCAAAAGCAGAAACAGAATTAAAAGCTTCCCAAAAACCAATCAGAAAACACAGGAACATGCACTGCAA GGTTTCTTTGTTGGATGACACAGTTTATGAATGTGTTGTGGAGAAACATGCTAAGGGACAAGATTTGCTTAAACGAGTATGTGAGCATCTCAATCTTTTGGAAGAAGACTATTTTGGTCT AGCCATTTGGGATAACGCAACCTCTAAGACATGGCTGGATTCCGCCAAAGAAATAAAAAAGCAGGTTCGTGGTGTCCCTTGGAATTTTACATTTAATGTAAAGTTTTATCCACCTGACCC AGCACAGTTAACAGAAGACATAACAAGATATTATTTATGTCTTCAGCTTCGGCAGGACATAGTTGCAGGACGTCTGCCCTGTTCCTTTGCAACCTTAGCATTATTAGGTTCTTACACCAT CCAGTCTGAACTGGGAGACTACGACCCAGAACTCCATGGCGTGGATTATGTTAGTGATTTTAAACTGGCCCCGAATCAGACCAAGGAACTTGAAGAGAAGGTCATGGAACTGCATAAGTC ATACAGGTCCATGACTCCAGCTCAGGCTGACTTGGAGTTTCTTGAGAATGCCAAAAAGTTGTCTATGTATGGAGTTGATCTTCATAAAGCAAAGGACTTGGAAGGAGTAGATATCATCCT AGGTGTCTGCTCTAGTGGCCTTCTGGTTTACAAAGATAAGCTGAGAATTAACCGCTTCCCTTGGCCCAAAGTGCTGAAGATTTCTTATAAACGTAGTAGCTTTTTCATCAAGATTCGGCC TGGAGAGCAAGAGCAGTATGAAAGTACCATCGGATTCAAACTTCCCAGTTACCGAGCAGCTAAGAAATTATGGAAAGTCTGTGTAGAACATCACACGTTTTTCAGATTGACATCTACAGA CACCATTCCCAAAAGCAAATTTCTTGCGCTAGGATCCAAATTTCGATACAGTGGCCGGACTCAAGCTCAGACCAGGCAAGCTAGTGCTCTAATTGACAGGCCTGCCCCACACTTCGAGCG TACAGCAAGTAAACGGGCGTCCCGGAGCCTCGATGGAGCAGCAGCTGTCGATTCGGCAGACCGAAGTCCTCGGCCCACTTCTGCACCTGCCATTACTCAGGGTCAGGTTGCAGAAGGTGG CGTCCTAGATGCCTCTGCTAAAAAAACAGTGGTCCCTAAAGCACAGAAGGAAACAGTGAAGGCTGAAGTGAAAAAGGAAGACGAGCCACCTGAGCAAGCTGAGCCAGAGCCCACAGAAGC ATGGAAGGTGGAAAAAACCCACATCGAGGTGACAGTACCCACCTCAAATGGTGACCAAACACAGAAGCTTGCAGAAAAAACTGAAGATCTGATAAGAATGAGGAAGAAAAAGAGAGAAAG ACTAGATGGTGAAAACATTTATATCAGACATAGCAATTTAATGTTGGAGGATTTAGACAAGAGTCAAGAGGAGATCAAAAAACATCATGCCAGCATCAGTGAGCTGAAAAAGAACTTCAT GGAGTCTGTACCAGAACCACGGCCTAGTGAATGGGATAAACGCTTATCCACTCACTCACCCTTCCGAACTCTTAACATCAATGGGCAAATCCCCACAGGAGAAGGAGTGAAGAAAACTTC TGTCCTACCCTCGGAAAGAAAGGTTGGTGGGCCAGAGAGTATAAATGGCATTCGCACAGAGGAGGTGGCTGTCGTGACAAAGGGGCCATCTACTAACCCTGACTCTGAATGGGAGGGTCC CAAGCATTCGGTAGTTCCTAGTAAAAGCCAGATGACCACCTCGTCGGAGTCTCTGCAAAGCTTTGCCTTTGGCTCCCTCTCCATAAGCAGCAAGGAGACAGAAGAGAAGGAGGAGGGGGC AGCTGGCTATCTTGATATTAAGGAGATGCCAAGAGGCCCAACTGGGGGATGTATAGGAGTGGAGGAACAGGCCAGTGCCTTAAAGTTCTCAGTAACACCAGCTTCCTGTCAGCTGCAACC TGGTGTAAAAAAGGCAGAGAGTAGTGAAGAACATGTTACACCAGGAGAGCCACCTGGAAAACAAAATGGATCATTTCTTGACTTTCATGTGGGTAACCAGTTCCCCACCCTCATTCGAAG TTTCCAGCCTCCCCTGGTGAAGACACAAACTGTCACCATCTCAGATAATGCCAATGCTGTGAAAAGTGAAATCCCAACCAAAGACGTCCCTATTGTCCACACTGAGACCAAGACCATCAC TTATGAGGCTGCCCAGACTGACGACAACAGTGGAGACTTGGACCCAGGAGTCTTGCTGACAGCTCAAACTATCACATCTGAGACCCCAAGCAGCACCACCACAACTCAAATTACCAAGAC TGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTCCTTGTACAAGCCATCAAGGAGGCAAAGGAGCAGCACCC AGACATGTCAGTGACCAAGGTGGTCGTCCACCAGGAGACCGAGATTGCTGATGAGTGAGCTCAGGAACTAACCTACCCCAACTCTGCCCTTCTCCCATCCAAGAGAAACCAGCAAAATGA TAAAGAAGCTAACCTGCCATAGTCAGACTTCAGACTTTCAAGATTATTCTAAATCACCAGAAAATTAATTTCAGTTTCTATTGGGAGTTTATACCAAGAGATTCTTCTAGATCTCATTGA TCCTTTTGAAGAGCTTTTTCTATATTAGGATATCAGAATTGTTCAACTTTTCACTCTATAGACTGTTTTAAGAGTTTTGGGGTTTTTTTAATTGGGTGGTTTGTAACCCCTTCAGCCTAG CCTCTCTGCCCATTTATTTCCAACCCCAACAGACACTGACAGGGTCCATGGAATTCTTCGGGAAATCCTCCAAGGACTCTTGTCAGCTGTGTTGGAAGCCAAAGCCAGCTTAGTGGGACT TCCGCGTCTCTCCCTAGTCTTATCCCCTTTGGATGATGGCAGAAACTTCATGAACCAGCCCTTTCTCAGAGCCAGTGATGTGAGTGTATCAGAATGCCAGGGAGGGCACCAGCCCTGATC CACAGACCTCGGAAAGATGCCCCTGTTCCTTTGTTGCGGGTGGTTTTGGTAAGGCAGAGCCCTCTGCTGAGAATGTAGTATTGTTTTTCCCCTCTCCCTCCTGCTTTCTTTTTGGAGCTT CTTTGGGTCAAAGACATGGAAGTTGCTTCAGATATCTGATACTGTGAATGTTTGAACATATCCGTGGCCTTCACCTCTCCAGCTACCCTTTTACCTCATCAGAAGCAGTGGCTCAGCTAA GTGCTCCCCCTAGCTCCCATCTCAGGAGACCAAATCTCACAGAAAAATAGGCACTTTGGGCCAAAAGCTCTAATGGAACATTTTTAGTGGTGATTTGGGGAAGGAAAGTTAATGAGGTTT TTAAAATAAGGTTTTCTAGTTTTGAGAGTGTGCACTTCACACAGGGGAATGGGGTTACTTCTGTCTGATCCTGGGCCTTTCTTTCATCCCAAATGACAAGGAATGTGGCTCAGAGAAGGG TTTTTCTTTTTTGACCTTTCTTCTCTCAACAGGAACCTGCCTGAGGACACCCTTCTAGAGCAAGGAATTGACTTTTAGGAGCCGTTCTCCCCACAAGACACCACATGACAAGGGGTATAA GCCCCAGCCCTGCTCATTCCCACTCACCAGCTGAGGTCTGTCAGGTTTTGAAGGCTTGATTTTGTGGTGGGTTTGGGGCTTAGTTTTCCTTTTTTTCATTTTGATTTTTGAAAGTGAAGA TGATGCCCTAATTCCTGGTAAGGATTTGGGGCATAGTTTTTTGTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAAGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCG CCTCCTGGGTTCAAGCAGTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGCGCACACCACCACGCCCAGCAAATTTTTTGTATTTTTAGTAGAAACGGGATTTCACCTTGTTA GGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCGATTTGGGGCATTTTTATTTAACAGAACTT CTCTAACCTTCCAACTGCTTCCCACAAACACATTGGCCTCAAGGCTCCTTAGAATCCCAGTTCCAGCTTCCTAAAATAGACAGTGGGTATCGGGCAGCAGTCACTGGGGCTCAAGGGCAG TGAGCAAGAGAAATGTCTAAAGCTGCTTCTCCCAACACCGTCCAAAGTCTCCACTGCCTGAGTTTTGTTTCGGCTGGTTTGAACTCATTTCGGGTGTGTGCATTTTTCTTTTGGTACCCA TGTGAGACATGAACAACAGGAGGGAGGGAAAGAGCCCAGGTGGGACGTGGGACAGGCTTAGGGGAAAGAGCTTGTCCTATCTCAGGAACAAAATTATAGGCTGTGGGCAGAGGGTCTGAA AGGTGGGCTTTGGGGTAGTGCCCAAGCCTGGTCGTGTTGCCAGGAGTGGTGACAAGAAATGCAGCTTACATCAAACGAACATGTAGTGCATGCCCACTGCCTGATGGCCAGATGGCCTGT AGGAAGAGCTACCAGGGCTTCCAGACCTGTGGAACGAAGAGGATGGGGAAAAGGCAGAGGGCACTGAGTGTCCCTTTAAAAACTAACCCACTGAATATTCCGTGTGATCTAGAACAGTGT GGCAGCTTTCACAGCACAGGACCGTTCATCGGGGGCCTAAACGTTTCCCTCAGCTCTGTCACCAACTCACTTCTCTCGGCTTCGTTGTCTGTAAATTGGATGAAAAGAGCTCTAATGCCT TTCAGGCTCTTAGAAGCCATAGATTTGGACAAGCCCAGCAAGATGGGTGTCCTTCCAGGCCTCTTCCCCTTTCCTCCATCTCTGGCAACAGTTCTTGGGGTTTGGCAATTGTTTGGATTT TTTTTCTTTCTGCAGTTGTGTGTATGTGTGTTTGTGTGAAGAAAAACAGACTCTGTCCAGGTAGAAATGGTGAGGAGGGGGAAGAGAATTACATTTCCAGGGTCAGAAACTTGGCAACAG TTTTCCTAGAGTGACTCAGACACACCACAGTAACAACTCTCGCTGCAATTTTATTTTAATTTGAGAAATAAAGATTTCCTCCAAGCCACATGAGGACTCTGGCACCCACCCACAAAGCAA GACCTGTATTTATAAGCCGAGGGCTCAGGGAGCCTAACTGCGGGACCCGTCAGGGCCCCGTGACCCATCCCCGTCCCCACCCCCCCCTCCACCGCTGGGCCCATCAGTGTGTGTTGGGGG GATGCTTGGCAGCTGGGGGTGAGGAGACAACAAACCTCGGGAACTGGAGCCAGAGCTGCGGCCTGACTGACGCCTTTTGATGCTCACGGGAAATTTCTGCCCAGGATCTCAGCCCCAGGC TGGTTGTTTCTACAAATCTCTCTCAAATGTATTATTTTGGTGACAAAAATGAAGGAGCTTTGTAAATTTTTTTTAAAATTATGAATCATATCAAGTAGTTGTTTACATTTCTTGAAAAAA TAGGAACTCGGGCAGCAGAATCAGATTGGCAGAATCTTTAGACTACACAGGCAATAATCAAGTCTGCTGTTTTGGCCTTTCGTAGTAGAAGTGGTTGTAGTGTTTAGATATCTGTTTGGT CTTGCTTCTTGTATTGCATTTTTTTCAATAAACAACAACAAAAAGAA |
Protein Sequence | >2035 : length: 1031 MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGT SLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVC EHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQT KELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVC VEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKED EPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNIN GQIPTGEGVKKTSVLPSERKVGGPESINGIRTEEVAVVTKGPSTNPDSEWEGPKHSVVPSKSQMTTSSESLQSFAFGSLSISSKETEEKEEGAAGYLDIKEMPRGPTGGCIGVEEQASAL KFSVTPASCQLQPGVKKAESSEEHVTPGEPPGKQNGSFLDFHVGNQFPTLIRSFQPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSE TPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE |