KEGG   Homo sapiens (human): 6708
Entry
6708              CDS       T01001                                 

Gene name
SPTA1, EL2, HPP, HS3, SPH3, SPTA
Definition
(RefSeq) spectrin alpha, erythrocytic 1
  KO
K06114  spectrin alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04210  Apoptosis
Disease
H00230  Hereditary spherocytosis
H00231  Hereditary elliptocytosis
H01125  Hereditary pyropoikilocytosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04210 Apoptosis
    6708 (SPTA1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    6708 (SPTA1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     6708 (SPTA1)
  Intermediate filaments
   Intermediate filament-binding proteins
    6708 (SPTA1)
SSDB
Motif
Pfam: Spectrin EFhand_Ca_insen SH3_1 SH3_9 EF-hand_6 SH3_2 EF-hand_7 EF-hand_1 SH3_10 FAA_hydro_N_2
Other DBs
NCBI-GeneID: 6708
NCBI-ProteinID: NP_003117
OMIM: 182860
HGNC: 11272
Ensembl: ENSG00000163554
Vega: OTTHUMG00000019636
Pharos: P02549(Tbio)
UniProt: P02549
Structure
PDB: 
5J4O 3LBX 1OWA

Position
1q23.1
AA seq 2419 aa
MEQFPKETVVESSGPKVLETAEEIQERRQEVLTRYQSFKERVAERGQKLEDSYHLQVFKR
DADDLGKWIMEKVNILTDKSYEDPTNIQGKYQKHQSLEAEVQTKSRLMSELEKTREERFT
MGHSAHEETKAHIEELRHLWDLLLELTLEKGDQLLRALKFQQYVQECADILEWIGDKEAI
ATSVELGEDWERTEVLHKKFEDFQVELVAKEGRVVEVNQYANECAEENHPDLPLIQSKQN
EVNAAWERLRGLALQRQKALSNAANLQRFKRDVTEAIQWIKEKEPVLTSEDYGKDLVASE
GLFHSHKGLERNLAVMSDKVKELCAKAEKLTLSHPSDAPQIQEMKEDLVSSWEHIRALAT
SRYEKLQATYWYHRFSSDFDELSGWMNEKTAAINADELPTDVAGGEVLLDRHQQHKHEID
SYDDRFQSADETGQDLVNANHEASDEVREKMEILDNNWTALLELWDERHRQYEQCLDFHL
FYRDSEQVDSWMSRQEAFLENEDLGNSLGSAEALLQKHEDFEEAFTAQEEKIITVDKTAT
KLIGDDHYDSENIKAIRDGLLARRDALREKAATRRRLLKESLLLQKLYEDSDDLKNWINK
KKKLADDEDYKDIQNLKSRVQKQQVFEKELAVNKTQLENIQKTGQEMIEGGHYASDNVTT
RLSEVASLWEELLEATKQKGTQLHEANQQLQFENNAEDLQRWLEDVEWQVTSEDYGKGLA
EVQNRLRKHGLLESAVAARQDQVDILTDLAAYFEEIGHPDSKDIRARQESLVCRFEALKE
PLATRKKKLLDLLHLQLICRDTEDEEAWIQETEPSATSTYLGKDLIASKKLLNRHRVILE
NIASHEPRIQEITERGNKMVEEGHFAAEDVASRVKSLNQNMESLRARAARRQNDLEANVQ
FQQYLADLHEAETWIREKEPIVDNTNYGADEEAAGALLKKHEAFLLDLNSFGDSMKALRN
QANACQQQQAAPVEGVAGEQRVMALYDFQARSPREVTMKKGDVLTLLSSINKDWWKVEAA
DHQGIVPAVYVRRLAHDEFPMLPQRRREEPGNITQRQEQIENQYRSLLDRAEERRRRLLQ
RYNEFLLAYEAGDMLEWIQEKKAENTGVELDDVWELQKKFDEFQKDLNTNEPRLRDINKV
ADDLLFEGLLTPEGAQIRQELNSRWGSLQRLADEQRQLLGSAHAVEVFHREADDTKEQIE
KKCQALSAADPGSDLFSVQALQRRHEGFERDLVPLGDKVTILGETAERLSESHPDATEDL
QRQKMELNEAWEDLQGRTKDRKESLNEAQKFYLFLSKARDLQNWISSIGGMVSSQELAED
LTGIEILLERHQEHRADMEAEAPTFQALEDFSAELIDSGHHASPEIEKKLQAVKLERDDL
EKAWEKRKKILDQCLELQMFQGNCDQVESWMVARENSLRSDDKSSLDSLEALMKKRDDLD
KAITAQEGKITDLEHFAESLIADEHYAKEEIATRLQRVLDRWKALKAQLIDERTKLGDYA
NLKQFYRDLEELEEWISEMLPTACDESYKDATNIQRKYLKHQTFAHEVDGRSEQVHGVIN
LGNSLIECSACDGNEEAMKEQLEQLKEHWDHLLERTNDKGKKLNEASRQQRFNTSIRDFE
FWLSEAETLLAMKDQARDLASAGNLLKKHQLLEREMLAREDALKDLNTLAEDLLSSGTFN
VDQIVKKKDNVNKRFLNVQELAAAHHEKLKEAYALFQFFQDLDDEESWIEEKLIRVSSQD
YGRDLQGVQNLLKKHKRLEGELVAHEPAIQNVLDMAEKLKDKAAVGQEEIQLRLAQFVEH
WEKLKELAKARGLKLEESLEYLQFMQNAEEEEAWINEKNALAVRGDCGDTLAATQSLLMK
HEALENDFAVHETRVQNVCAQGEDILNKVLQEESQNKEISSKIEALNEKTPSLAKAIAAW
KLQLEDDYAFQEFNWKADVVEAWIADKETSLKTNGNGADLGDFLTLLAKQDTLDASLQSF
QQERLPEITDLKDKLISAQHNQSKAIEERYAALLKRWEQLLEASAVHRQKLLEKQLPLQK
AEDLFVEFAHKASALNNWCEKMEENLSEPVHCVSLNEIRQLQKDHEDFLASLARAQADFK
CLLELDQQIKALGVPSSPYTWLTVEVLERTWKHLSDIIEEREQELQKEEARQVKNFEMCQ
EFEQNASTFLQWILETRAYFLDGSLLKETGTLESQLEANKRKQKEIQAMKRQLTKIVDLG
DNLEDALILDIKYSTIGLAQQWDQLYQLGLRMQHNLEQQIQAKDIKGVSEETLKEFSTIY
KHFDENLTGRLTHKEFRSCLRGLNYYLPMVEEDEHEPKFEKFLDAVDPGRKGYVSLEDYT
AFLIDKESENIKSSDEIENAFQALAEGKSYITKEDMKQALTPEQVSFCATHMQQYMDPRG
RSHLSGYDYVGFTNSYFGN
NT seq 7260 nt   +upstreamnt  +downstreamnt
atggagcaatttccaaaggaaaccgttgtggagagcagtgggccaaaggttttggaaaca
gcagaagagatccaggagaggcgtcaggaagtgttgactcggtatcaaagtttcaaggag
cgggtcgctgagaggggtcagaagcttgaggattcctatcacttacaagttttcaagcga
gatgcagatgatctggggaagtggatcatggagaaagtcaatatcttaaccgataagagc
tatgaagacccaactaatatacaggggaaatatcagaagcatcaatcccttgaagcagag
gtgcaaacaaaatcaagactcatgtctgaactggaaaaaacaagggaagaacgatttacc
atgggtcattctgcccacgaagaaacgaaggcccatatagaggagctacgccacctgtgg
gacctgctgttagagctgaccctggagaagggtgaccagttgctgcgggccctgaagttc
cagcagtatgtacaggagtgtgctgacatcttagagtggattggagacaaggaggctata
gcgacatcagtggagctaggtgaagactgggagcgcaccgaagttctgcataagaaattt
gaagacttccaagtggagctggtagctaaagaagggagagttgttgaagtgaaccaatat
gccaatgagtgtgccgaggaaaaccatcctgacctacccttaattcagtctaagcaaaat
gaggtgaatgctgcctgggagcgccttcgtggtttggctctccagagacagaaagctctg
tccaatgctgcaaacttacaacgattcaaaagggatgtgactgaagccatccagtggatc
aaggagaaggaacctgtactcacctctgaggactatggcaaagaccttgttgcctctgaa
ggactgtttcacagtcacaagggacttgagagaaatcttgctgtcatgagtgacaaggtg
aaggagttatgtgctaaagcagagaagctgacactttcccatccttcagatgcacctcag
atccaggagatgaaagaagatctggtctccagctgggagcatattcgtgccctggccacc
agcagatatgaaaaactgcaggctacttattggtaccatcgattttcatctgactttgat
gaactctcaggctggatgaacgagaagactgctgcgatcaatgctgatgagctgccaaca
gatgtggctggtggagaagttctgctggacaggcatcagcagcataagcatgagattgac
tcttacgatgaccgatttcaatctgctgatgagactggtcaagacctcgtgaatgccaat
catgaagcctctgatgaagttcgggaaaagatggaaatacttgacaacaactggactgcc
ctgctggaactgtgggacgagcgtcatcgtcagtatgagcagtgcttggactttcatctc
ttctacagagacagtgagcaagtggacagttggatgagtagacaagaggccttcctggaa
aacgaggatctgggaaactcactgggcagtgcagaagcccttcttcagaagcatgaagac
tttgaggaagcctttactgcccaggaagagaagatcataactgtagacaagactgcaacc
aaattgattggtgatgaccattatgattcagagaacatcaaggctatccgtgacgggctg
ttagcccggcgggatgccctacgtgaaaaggctgccactagacgtagattgctgaaggag
tcattgcttctgcaaaaactgtatgaggactcagatgacctaaagaactggatcaacaag
aagaaaaagttggcagatgatgaagattacaaggacatacagaacttgaagagcagggtt
caaaagcagcaagtctttgaaaaggagttggcagttaataagacccagctggaaaacata
cagaaaactggccaagagatgattgagggtggtcactatgcctctgacaatgtgaccact
cgtctgagtgaagttgccagcctctgggaggagttgctggaggctacaaaacagaaaggg
acccagttgcatgaggccaaccagcagctgcaatttgaaaataatgcagaagatttgcag
cgctggctggaggatgttgagtggcaagtcacctctgaggattatgggaaaggcctggcc
gaggtacagaatcgactcaggaaacacggcctcctggagtcggctgtggctgctcgtcag
gatcaggtggatatccttacagacctggctgcatattttgaagaaataggccatcctgat
tctaaggatataagggcaaggcaagagtccttggtatgccgatttgaagctctgaaagag
ccactggccacccgaaagaagaagctcttagaccttctccatctgcagctgatttgtaga
gacacagaggatgaggaggcctggatccaagagactgaaccctcagctacttccacctac
cttggaaaggacctgattgcttccaaaaagcttctgaataggcatagagtcatcctggag
aacattgccagccatgaaccacgcattcaagagataacagaaaggggaaacaaaatggta
gaggaaggacactttgctgcagaagatgtggcctctagggtcaagagtttgaaccagaat
atggagtctctccgtgctcgagctgctaggcgacaaaatgatcttgaagccaatgtccag
ttccagcagtacctggctgacctgcatgaagcagaaacatggatcagagagaaggaacct
attgtagataatactaactatggtgctgatgaagaagcagctggggctcttctaaagaag
catgaggcctttctattagatctcaattcatttggagacagtatgaaagctctgcggaat
caggcaaacgcctgccagcaacaacaggctgcaccagtggagggagttgctggagaacaa
agggtcatggctttatatgacttccaggcccgcagcccccgagaagtcaccatgaagaaa
ggtgatgtcttaacgctgctcagttccatcaataaggactggtggaaggtggaagctgct
gatcatcagggcattgtcccagctgtctatgtcagaagactggcccacgatgagttcccg
atgctcccacagcggcgacgagaagagccaggaaacatcacccagcgccaggagcagatt
gagaaccaataccgctccctcttggatcgggcagaagaacgcagacgtcgtctattgcaa
cgttataatgaatttttattggcctatgaggcaggagacatgctggaatggattcaagag
aaaaaggcagaaaacactggagtggaactagatgatgtttgggagctgcagaaaaagttt
gatgagttccaaaaggatttgaataccaatgagcctcggctaagggatatcaacaaggta
gctgatgatctactatttgaaggacttctaacaccagaaggagctcaaatccggcaggaa
ttgaattcccgctggggttctttgcagaggcttgcagatgaacagcggcagctgctgggc
agtgcccatgctgttgaagtgtttcacagagaagcagatgacacgaaggagcagattgag
aagaaatgccaggccctcagtgctgcagaccctggctcagatctgttcagtgttcaggct
cttcagcgacggcatgagggctttgaaagggacctcgtacccctgggagataaggtgacc
atactgggggagacagcagagcggctcagtgagtcccatccagatgccactgaggacctg
cagagacagaaaatggagctgaatgaggcctgggaagacctgcaggggcgtacaaaggat
cgtaaggagagcctaaatgaggcccagaaattctacctgttcctcagcaaggccagggat
ctgcagaactggatcagtagcattggtggcatggtatcatcacaggagctggccgaagac
ttaactggcatagagatcttgctggagagacatcaggagcaccgtgctgacatggaggca
gaggctcccaccttccaggccttagaggacttcagtgcagaacttatcgacagtgggcac
catgctagccctgaaattgaaaaaaagcttcaagctgtcaagctagagagagatgatttg
gagaaggcttgggaaaaacgcaagaagatcctagaccagtgcctggagttgcagatgttc
caggggaactgtgatcaagttgagagctggatggtggcacgtgagaattccctgaggtca
gatgacaaaagttccttagacagtctggaggctttgatgaagaaacgggacgatttggac
aaagcaatcactgcccaggaagggaagatcactgacctagaacattttgctgagagcctc
attgctgatgaacactatgccaaagaagagattgctacgcggctccaacgtgtactagac
aggtggaaggctctcaaagcacaactgattgatgagcggacaaagcttggagactatgcc
aacctaaaacaattctaccgagaccttgaggagctggaagaatggatcagtgagatgctg
cccacagcctgtgatgaatcctacaaagacgccactaacattcagaggaaatacctgaaa
caccagacctttgcacatgaagtcgatggccgatctgagcaggtgcatggcgtcatcaac
ctggggaactccctgattgagtgtagcgcttgtgatggcaatgaagaggccatgaaggag
caactggaacagctgaaggaacattgggatcatctgcttgagagaacaaatgacaaaggg
aagaagctcaatgaggccagtcgtcaacagaggttcaacacaagcatccgggactttgag
ttctggctctcagaggcagagacattgctggccatgaaagatcaggccagggacttggct
tcagcaggaaacctactcaagaagcatcagctattggagagagagatgttggctcgagag
gatgcactcaaggacctgaatacattggctgaagatttgctctccagcgggactttcaac
gttgatcagattgtgaagaaaaaagataatgtcaacaagcgtttcctgaatgtccaagaa
ttggcagctgcacaccacgaaaaattgaaagaggcctatgccttgttccagttcttccag
gatctagatgatgaggaatcctggatagaggagaagttgatacgagtgagctcccaggac
tatgggagagatcttcagggggttcagaacttgctgaagaagcacaaacgcctagagggg
gagctggtggcccatgagcctgccatccagaatgtgctggatatggcagagaagctgaaa
gacaaggctgctgtggggcaagaggagatccagttgcggctggctcagtttgttgaacac
tgggagaagctcaaagagttggccaaggcccgaggacttaagttggaagaatccctagaa
tacttgcaattcatgcagaatgctgaggaagaggaagcttggatcaatgaaaagaatgct
ttggctgtccgaggagattgtggagatacattagctgctactcagagcttgctaatgaag
catgaagctttggaaaatgactttgctgtccatgagacccgagtacaaaatgtgtgtgca
caaggagaagacatcctaaataaggtgttgcaggaggaaagtcagaacaaagagatttct
tccaagatagaggctctgaatgaaaagaccccttctctggctaaggcaatagctgcttgg
aagttgcaattggaagacgattatgcctttcaggaattcaactggaaggctgatgtggta
gaggcttggatagctgataaggaaacaagcctaaagaccaatggcaatggtgcagacctt
ggtgacttcctcactcttctggcaaaacaggacactctggatgccagtctgcagagtttc
cagcaagagagacttcccgagatcactgacctgaaggacaaactgatttctgctcaacac
aaccagtctaaagccattgaagagcgttatgccgctctgctgaagcgctgggaacagttg
ctggaagcctcggcagtccacagacagaaattgctggagaaacagctgcctctacagaag
gctgaggacctgttcgtggaatttgcacataaggcttcagctttgaacaactggtgtgaa
aagatggaagaaaacttgtcagagcctgtgcactgtgtctccctgaatgaaattcggcag
ctgcagaaagaccatgaggacttcttggcctccctggctagggctcaagcagactttaaa
tgtttgctggagctagaccagcagattaaggccttaggtgtgccttccagcccttatacc
tggttaacagtggaggtgctggaaaggacctggaagcacctatctgacatcattgaggaa
cgggagcaggagctgcaaaaggaagaggcaagacaggtcaagaactttgagatgtgtcag
gagtttgaacagaatgccagtaccttccttcaatggatcctggaaaccagggcttacttt
ctggatggatcattgctcaaagaaacaggaactctggaatctcagctggaagcaaataaa
agaaaacagaaggagatccaggcgatgaagcgtcaactaaccaagattgtggacctgggg
gacaacttggaagacgctctgatccttgatatcaaatacagcaccattggattggctcag
cagtgggaccagctctaccagcttgggttgcggatgcaacacaacctggagcaacagatc
caggccaaggacatcaaaggtgtgagtgaagagactctaaaggaatttagcacaatctat
aaacactttgatgagaatttgacagggcgcctgactcacaaagagttccggtcctgcctg
agaggactcaattactacttgcccatggtggaggaggatgaacatgagcccaagtttgag
aagttcctggatgctgtggatccagggaggaagggctatgtctcactggaggactatact
gctttcctgattgacaaggagtcagaaaacatcaagtccagtgatgaaatagagaatgcc
ttccaagccctggcagagggcaagtcatatattaccaaagaagacatgaagcaggccctt
accccagagcaagtgtcattctgtgccacacatatgcagcaatatatggacccacggggt
cgaagccatctctctggctatgactacgttggcttcaccaattcctactttggcaactaa

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