Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6708
Gene name Gene Name - the full gene name approved by the HGNC.
Spectrin alpha, erythrocytic 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPTA1
Synonyms (NCBI Gene) Gene synonyms aliases
EL2, HPP, HS3, SPH3, SPTA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EL2, HPP, SPH3
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The enco
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs857716 C>A,G,T Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity Intron variant, genic downstream transcript variant
rs857725 T>A,C,G Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant, missense variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs2022057 G>A,T Likely-benign, benign, likely-pathogenic Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs3737515 G>A,C Likely-benign, benign-likely-benign, likely-pathogenic Coding sequence variant, synonymous variant, intron variant, genic downstream transcript variant, missense variant
rs7418956 G>A,T Pathogenic, likely-benign, benign Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022113 hsa-miR-124-3p Microarray 18668037
MIRT610630 hsa-miR-8485 HITS-CLIP 22927820
MIRT610628 hsa-miR-15a-3p HITS-CLIP 22927820
MIRT610627 hsa-miR-4529-5p HITS-CLIP 22927820
MIRT610630 hsa-miR-8485 HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0002260 Process Lymphocyte homeostasis IEA
GO:0005200 Function Structural constituent of cytoskeleton TAS 1634521
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 9593709, 12820899, 20197550, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182860 11272 ENSG00000163554
Protein
UniProt ID P02549
Protein name Spectrin alpha chain, erythrocytic 1 (Erythroid alpha-spectrin)
Protein function Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.
PDB 1OWA , 3LBX , 5J4O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00435 Spectrin 53 156 Spectrin repeat Domain
PF00435 Spectrin 158 262 Spectrin repeat Domain
PF00435 Spectrin 264 368 Spectrin repeat Domain
PF00435 Spectrin 370 474 Spectrin repeat Domain
PF00435 Spectrin 476 580 Spectrin repeat Domain
PF00435 Spectrin 582 685 Spectrin repeat Domain
PF00435 Spectrin 687 791 Spectrin repeat Domain
PF00435 Spectrin 793 897 Spectrin repeat Domain
PF00435 Spectrin 899 979 Spectrin repeat Domain
PF00018 SH3_1 983 1028 SH3 domain Domain
PF00435 Spectrin 1082 1181 Spectrin repeat Domain
PF00435 Spectrin 1183 1287 Spectrin repeat Domain
PF00435 Spectrin 1289 1393 Spectrin repeat Domain
PF00435 Spectrin 1395 1498 Spectrin repeat Domain
PF00435 Spectrin 1500 1605 Spectrin repeat Domain
PF00435 Spectrin 1607 1711 Spectrin repeat Domain
PF00435 Spectrin 1713 1817 Spectrin repeat Domain
PF00435 Spectrin 1819 1926 Spectrin repeat Domain
PF00435 Spectrin 1928 2033 Spectrin repeat Domain
PF00435 Spectrin 2043 2147 Spectrin repeat Domain
PF00435 Spectrin 2157 2258 Spectrin repeat Domain
PF08726 EFhand_Ca_insen 2350 2418 Ca2+ insensitive EF hand Domain
Sequence
MEQFPKETVVESSGPKVLETAEEIQERRQEVLTRYQSFKERVAERGQKLEDSYHLQVFKR
DADDLGKWIMEKVNILTDKSYEDPTNIQGKYQKHQSLEAEVQTKSRLMSELEKTREERFT
MGHSAHEETKAHIEELRHLWDLLLELTLEKGDQLLR
ALKFQQYVQECADILEWIGDKEAI
ATSVELGEDWERTEVLHKKFEDFQVELVAKEGRVVEVNQYANECAEENHPDLPLIQSKQN
EVNAAWERLRGLALQRQKALSN
AANLQRFKRDVTEAIQWIKEKEPVLTSEDYGKDLVASE
GLFHSHKGLERNLAVMSDKVKELCAKAEKLTLSHPSDAPQIQEMKEDLVSSWEHIRALAT
SRYEKLQA
TYWYHRFSSDFDELSGWMNEKTAAINADELPTDVAGGEVLLDRHQQHKHEID
SYDDRFQSADETGQDLVNANHEASDEVREKMEILDNNWTALLELWDERHRQYEQ
CLDFHL
FYRDSEQVDSWMSRQEAFLENEDLGNSLGSAEALLQKHEDFEEAFTAQEEKIITVDKTAT
KLIGDDHYDSENIKAIRDGLLARRDALREKAATRRRLLKE
SLLLQKLYEDSDDLKNWINK
KKKLADDEDYKDIQNLKSRVQKQQVFEKELAVNKTQLENIQKTGQEMIEGGHYASDNVTT
RLSEVASLWEELLEATKQKGTQLHE
ANQQLQFENNAEDLQRWLEDVEWQVTSEDYGKGLA
EVQNRLRKHGLLESAVAARQDQVDILTDLAAYFEEIGHPDSKDIRARQESLVCRFEALKE
PLATRKKKLLD
LLHLQLICRDTEDEEAWIQETEPSATSTYLGKDLIASKKLLNRHRVILE
NIASHEPRIQEITERGNKMVEEGHFAAEDVASRVKSLNQNMESLRARAARRQNDLEA
NVQ
FQQYLADLHEAETWIREKEPIVDNTNYGADEEAAGALLKKHEAFLLDLNSFGDSMKALRN
QANACQQQQAAPVEGVAGE
QRVMALYDFQARSPREVTMKKGDVLTLLSSINKDWWKVEAA
DHQGIVPA
VYVRRLAHDEFPMLPQRRREEPGNITQRQEQIENQYRSLLDRAEERRRRLLQ
RYNEFLLAYEAGDMLEWIQEKKAENTGVELDDVWELQKKFDEFQKDLNTNEPRLRDINKV
ADDLLFEGLLTPEGAQIRQELNSRWGSLQRLADEQRQLLGS
AHAVEVFHREADDTKEQIE
KKCQALSAADPGSDLFSVQALQRRHEGFERDLVPLGDKVTILGETAERLSESHPDATEDL
QRQKMELNEAWEDLQGRTKDRKESLNE
AQKFYLFLSKARDLQNWISSIGGMVSSQELAED
LTGIEILLERHQEHRADMEAEAPTFQALEDFSAELIDSGHHASPEIEKKLQAVKLERDDL
EKAWEKRKKILDQ
CLELQMFQGNCDQVESWMVARENSLRSDDKSSLDSLEALMKKRDDLD
KAITAQEGKITDLEHFAESLIADEHYAKEEIATRLQRVLDRWKALKAQLIDERTKLGD
YA
NLKQFYRDLEELEEWISEMLPTACDESYKDATNIQRKYLKHQTFAHEVDGRSEQVHGVIN
LGNSLIECSACDGNEEAMKEQLEQLKEHWDHLLERTNDKGKKLNE
ASRQQRFNTSIRDFE
FWLSEAETLLAMKDQARDLASAGNLLKKHQLLEREMLAREDALKDLNTLAEDLLSSGTFN
VDQIVKKKDNVNKRFLNVQELAAAHHEKLKE
AYALFQFFQDLDDEESWIEEKLIRVSSQD
YGRDLQGVQNLLKKHKRLEGELVAHEPAIQNVLDMAEKLKDKAAVGQEEIQLRLAQFVEH
WEKLKELAKARGLKLEE
SLEYLQFMQNAEEEEAWINEKNALAVRGDCGDTLAATQSLLMK
HEALENDFAVHETRVQNVCAQGEDILNKVLQEESQNKEISSKIEALNEKTPSLAKAIAAW
KLQLED
DYAFQEFNWKADVVEAWIADKETSLKTNGNGADLGDFLTLLAKQDTLDASLQSF
QQERLPEITDLKDKLISAQHNQSKAIEERYAALLKRWEQLLEASAVHRQKLLE
KQLPLQK
AEDLFVEFAHKASALNNWCEKMEENLSEPVHCVSLNEIRQLQKDHEDFLASLARAQADFK
CLLELDQQIKALGVPSSPYTWLTVEVLERTWKHLSDIIEEREQELQK
EEARQVKNFEMCQ
EFEQNASTFLQWILETRAYFLDGSLLKETGTLESQLEANKRKQKEIQAMKRQLTKIVDLG
DNLEDALILDIKYSTIGLAQQWDQLYQLGLRMQHNLEQ
QIQAKDIKGVSEETLKEFSTIY
KHFDENLTGRLTHKEFRSCLRGLNYYLPMVEEDEHEPKFEKFLDAVDPGRKGYVSLEDYT
AFLIDKESENIKSSDEIENAFQALAEGKSYITKEDMKQALTPEQVSFCATHMQQYMDPRG
RSHLSGYDYVGFTNSYFG
N
Sequence length 2419
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic, Anemia, Hemolytic, Congenital, Anemia, hereditary spherocytic hemolytic, stomatocytic anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
23664421
Cholelithiasis Cholelithiasis rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Elliptocytosis Elliptocytosis, Hereditary, ELLIPTOCYTOSIS 2 (disorder) rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305
View all (1 more)
23664421, 1679439, 2384601, 8193371, 8941647, 2568861, 1638030, 1541680, 8364215, 2794061, 2568862, 1878597, 8018926, 7772539
Hereditary elliptocytosis Hereditary elliptocytosis rs869025285
Unknown
Disease term Disease name Evidence References Source
Hereditary Spherocytosis hereditary spherocytosis type 3 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Renal Tubular Associate 34481427
Acromegaly Associate 40415137
Adenocarcinoma Associate 30720096
alpha Mannosidosis Associate 2794061
Alzheimer Disease Associate 32345668
Anemia Associate 2568862
Anemia Diamond Blackfan Associate 33847457
Anemia Hemolytic Associate 35650129
Anemia Hemolytic Congenital Associate 37697358
Anemia Sickle Cell Associate 19650141