UniProtKB - P02549 (SPTA1_HUMAN)
Spectrin alpha chain, erythrocytic 1
SPTA1
Functioni
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.
Miscellaneous
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 2284 | Calcium 1Curated | 1 | |
Metal bindingi | 2286 | Calcium 1Curated | 1 | |
Metal bindingi | 2288 | Calcium 1Curated | 1 | |
Metal bindingi | 2290 | Calcium 1Curated | 1 | |
Metal bindingi | 2295 | Calcium 1Curated | 1 | |
Metal bindingi | 2327 | Calcium 2Curated | 1 | |
Metal bindingi | 2333 | Calcium 2Curated | 1 | |
Metal bindingi | 2338 | Calcium 2Curated | 1 |
GO - Molecular functioni
- actin filament binding Source: GO_Central
- calcium ion binding Source: InterPro
- structural constituent of cytoskeleton Source: ProtInc
GO - Biological processi
- actin cytoskeleton organization Source: GO_Central
- actin filament capping Source: UniProtKB-KW
- actin filament organization Source: ProtInc
- hemopoiesis Source: Ensembl
- lymphocyte homeostasis Source: Ensembl
- plasma membrane organization Source: Ensembl
- porphyrin-containing compound biosynthetic process Source: Ensembl
- positive regulation of protein binding Source: Ensembl
- positive regulation of T cell proliferation Source: Ensembl
- regulation of cell shape Source: UniProtKB-KW
Keywordsi
Molecular function | Actin capping, Actin-binding |
Biological process | Cell shape |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | P02549 |
Reactomei | R-HSA-375165, NCAM signaling for neurite out-growth R-HSA-445095, Interaction between L1 and Ankyrins R-HSA-5673001, RAF/MAP kinase cascade R-HSA-6807878, COPI-mediated anterograde transport |
SignaLinki | P02549 |
SIGNORi | P02549 |
Names & Taxonomyi
Protein namesi | Recommended name: Spectrin alpha chain, erythrocytic 1Alternative name(s): Erythroid alpha-spectrin |
Gene namesi | Name:SPTA1 Synonyms:SPTA |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11272, SPTA1 |
MIMi | 182860, gene |
neXtProti | NX_P02549 |
VEuPathDBi | HostDB:ENSG00000163554 |
Subcellular locationi
Cytoskeleton
Other locations
Cytoskeleton
- actin cytoskeleton Source: BHF-UCL
- cortical actin cytoskeleton Source: GO_Central
- cuticular plate Source: Ensembl
- spectrin Source: ProtInc
- spectrin-associated cytoskeleton Source: BHF-UCL
Cytosol
- cytosol Source: Reactome
Plasma Membrane
- intrinsic component of the cytoplasmic side of the plasma membrane Source: BHF-UCL
- plasma membrane Source: GO_Central
Other locations
- axon Source: Ensembl
- cell junction Source: GO_Central
- cell projection Source: GO_Central
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Elliptocytosis 2 (EL2)12 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_001324 | 24 | I → S in EL2; Lograno. 1 Publication | 1 | |
Natural variantiVAR_001328 | 28 | R → C in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918642EnsemblClinVar. | 1 | |
Natural variantiVAR_001325 | 28 | R → H in EL2; Corbeil. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar. | 1 | |
Natural variantiVAR_001326 | 28 | R → L in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar. | 1 | |
Natural variantiVAR_001327 | 28 | R → S in EL2. 2 PublicationsCorresponds to variant dbSNP:rs121918642EnsemblClinVar. | 1 | |
Natural variantiVAR_001329 | 31 | V → A in EL2; Marseille. Corresponds to variant dbSNP:rs773826036Ensembl. | 1 | |
Natural variantiVAR_001330 | 34 | R → W in EL2; Genova. 1 PublicationCorresponds to variant dbSNP:rs201568233Ensembl. | 1 | |
Natural variantiVAR_001331 | 41 | R → W in EL2; Tunis. 1 PublicationCorresponds to variant dbSNP:rs121918640EnsemblClinVar. | 1 | |
Natural variantiVAR_001332 | 45 | R → S in EL2; Clichy. 1 PublicationCorresponds to variant dbSNP:rs121918637EnsemblClinVar. | 1 | |
Natural variantiVAR_001333 | 45 | R → T in EL2; Anastasia. 1 Publication | 1 | |
Natural variantiVAR_001334 | 46 | G → V in EL2; Culoz. 1 PublicationCorresponds to variant dbSNP:rs121918638EnsemblClinVar. | 1 | |
Natural variantiVAR_001336 | 49 | L → F in EL2; Lyon. 1 PublicationCorresponds to variant dbSNP:rs121918639EnsemblClinVar. | 1 | |
Natural variantiVAR_001337 | 151 | G → D in EL2; Ponte de Sor. Corresponds to variant dbSNP:rs199725919EnsemblClinVar. | 1 | |
Natural variantiVAR_001338 | 154 | L → LL in EL2. | 1 | |
Natural variantiVAR_001339 | 207 | L → P in EL2 and HPP; Saint-Louis. 1 PublicationCorresponds to variant dbSNP:rs121918643EnsemblClinVar. | 1 | |
Natural variantiVAR_001340 | 260 | L → P in EL2; Nigerian. 1 PublicationCorresponds to variant dbSNP:rs121918634EnsemblClinVar. | 1 | |
Natural variantiVAR_001341 | 261 | S → P in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918636EnsemblClinVar. | 1 | |
Natural variantiVAR_001342 | 469 | H → P in EL2; Barcelona. 1 Publication | 1 | |
Natural variantiVAR_001343 | 469 | Missing in EL2; Alexandria. | 1 | |
Natural variantiVAR_001344 | 471 | Q → P in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918635EnsemblClinVar. | 1 | |
Natural variantiVAR_001346 | 791 | D → E in EL2; Jendouba. 1 PublicationCorresponds to variant dbSNP:rs7418956EnsemblClinVar. | 1 |
Hereditary pyropoikilocytosis (HPP)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_001335 | 48 | K → R in HPP. 1 PublicationCorresponds to variant dbSNP:rs121918644EnsemblClinVar. | 1 | |
Natural variantiVAR_001339 | 207 | L → P in EL2 and HPP; Saint-Louis. 1 PublicationCorresponds to variant dbSNP:rs121918643EnsemblClinVar. | 1 |
Spherocytosis 3 (SPH3)
Keywords - Diseasei
Disease variant, Elliptocytosis, Hereditary hemolytic anemia, PyropoikilocytosisOrganism-specific databases
DisGeNETi | 6708 |
MalaCardsi | SPTA1 |
MIMi | 130600, phenotype 266140, phenotype 270970, phenotype |
OpenTargetsi | ENSG00000163554 |
Orphaneti | 288, Hereditary elliptocytosis 822, Hereditary spherocytosis |
PharmGKBi | PA36101 |
Miscellaneous databases
Pharosi | P02549, Tbio |
Genetic variation databases
BioMutai | SPTA1 |
DMDMi | 308153675 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000073452 | 1 – 2419 | Spectrin alpha chain, erythrocytic 1Add BLAST | 2419 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 992 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1976 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P02549 |
jPOSTi | P02549 |
MassIVEi | P02549 |
MaxQBi | P02549 |
PaxDbi | P02549 |
PeptideAtlasi | P02549 |
PRIDEi | P02549 |
ProteomicsDBi | 51533 [P02549-1] 51534 [P02549-2] |
PTM databases
GlyConnecti | 2880, 1 O-Linked glycan (3 sites) |
GlyGeni | P02549, 4 sites, 1 O-linked glycan (4 sites) |
iPTMneti | P02549 |
PhosphoSitePlusi | P02549 |
Expressioni
Gene expression databases
Bgeei | ENSG00000163554, Expressed in trabecular bone tissue and 105 other tissues |
Genevisiblei | P02549, HS |
Organism-specific databases
HPAi | ENSG00000163554, Tissue enriched (bone) |
Interactioni
Subunit structurei
Composed of non-homologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers.
Interacts with FASLG.
2 PublicationsBinary interactionsi
P02549
GO - Molecular functioni
- actin filament binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 112586, 83 interactors |
DIPi | DIP-17031N |
IntActi | P02549, 28 interactors |
MINTi | P02549 |
STRINGi | 9606.ENSP00000357129 |
Miscellaneous databases
RNActi | P02549, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | P02549 |
SMRi | P02549 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P02549 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 53 – 155 | Spectrin 1Sequence analysisAdd BLAST | 103 | |
Repeati | 159 – 261 | Spectrin 2Sequence analysisAdd BLAST | 103 | |
Repeati | 265 – 367 | Spectrin 3Sequence analysisAdd BLAST | 103 | |
Repeati | 371 – 474 | Spectrin 4Sequence analysisAdd BLAST | 104 | |
Repeati | 477 – 580 | Spectrin 5Sequence analysisAdd BLAST | 104 | |
Repeati | 583 – 685 | Spectrin 6Sequence analysisAdd BLAST | 103 | |
Repeati | 688 – 790 | Spectrin 7Sequence analysisAdd BLAST | 103 | |
Repeati | 794 – 896 | Spectrin 8Sequence analysisAdd BLAST | 103 | |
Repeati | 900 – 969 | Spectrin 9Sequence analysisAdd BLAST | 70 | |
Domaini | 977 – 1036 | SH3PROSITE-ProRule annotationAdd BLAST | 60 | |
Repeati | 1087 – 1179 | Spectrin 10Sequence analysisAdd BLAST | 93 | |
Repeati | 1185 – 1287 | Spectrin 11Sequence analysisAdd BLAST | 103 | |
Repeati | 1290 – 1392 | Spectrin 12Sequence analysisAdd BLAST | 103 | |
Repeati | 1396 – 1497 | Spectrin 13Sequence analysisAdd BLAST | 102 | |
Repeati | 1501 – 1605 | Spectrin 14Sequence analysisAdd BLAST | 105 | |
Repeati | 1608 – 1711 | Spectrin 15Sequence analysisAdd BLAST | 104 | |
Repeati | 1714 – 1817 | Spectrin 16Sequence analysisAdd BLAST | 104 | |
Repeati | 1820 – 1926 | Spectrin 17Sequence analysisAdd BLAST | 107 | |
Repeati | 1929 – 2033 | Spectrin 18Sequence analysisAdd BLAST | 105 | |
Repeati | 2044 – 2146 | Spectrin 19Sequence analysisAdd BLAST | 103 | |
Repeati | 2158 – 2258 | Spectrin 20Sequence analysisAdd BLAST | 101 | |
Domaini | 2271 – 2306 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 2314 – 2349 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 2352 – 2386 | EF-hand 3PROSITE-ProRule annotationAdd BLAST | 35 |
Sequence similaritiesi
Keywords - Domaini
Repeat, SH3 domainPhylogenomic databases
eggNOGi | KOG0040, Eukaryota |
GeneTreei | ENSGT00940000161240 |
HOGENOMi | CLU_000847_0_0_1 |
InParanoidi | P02549 |
OMAi | DYKDTQN |
OrthoDBi | 1011028at2759 |
PhylomeDBi | P02549 |
TreeFami | TF343803 |
Family and domain databases
CDDi | cd00176, SPEC, 12 hits |
DisProti | DP01700 |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR014837, EF-hand_Ca_insen IPR002048, EF_hand_dom IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR018159, Spectrin/alpha-actinin IPR002017, Spectrin_repeat |
Pfami | View protein in Pfam PF08726, EFhand_Ca_insen, 1 hit PF00018, SH3_1, 1 hit PF00435, Spectrin, 20 hits |
SMARTi | View protein in SMART SM00326, SH3, 1 hit SM00150, SPEC, 20 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF50044, SSF50044, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 3 hits PS50002, SH3, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEQFPKETVV ESSGPKVLET AEEIQERRQE VLTRYQSFKE RVAERGQKLE
60 70 80 90 100
DSYHLQVFKR DADDLGKWIM EKVNILTDKS YEDPTNIQGK YQKHQSLEAE
110 120 130 140 150
VQTKSRLMSE LEKTREERFT MGHSAHEETK AHIEELRHLW DLLLELTLEK
160 170 180 190 200
GDQLLRALKF QQYVQECADI LEWIGDKEAI ATSVELGEDW ERTEVLHKKF
210 220 230 240 250
EDFQVELVAK EGRVVEVNQY ANECAEENHP DLPLIQSKQN EVNAAWERLR
260 270 280 290 300
GLALQRQKAL SNAANLQRFK RDVTEAIQWI KEKEPVLTSE DYGKDLVASE
310 320 330 340 350
GLFHSHKGLE RNLAVMSDKV KELCAKAEKL TLSHPSDAPQ IQEMKEDLVS
360 370 380 390 400
SWEHIRALAT SRYEKLQATY WYHRFSSDFD ELSGWMNEKT AAINADELPT
410 420 430 440 450
DVAGGEVLLD RHQQHKHEID SYDDRFQSAD ETGQDLVNAN HEASDEVREK
460 470 480 490 500
MEILDNNWTA LLELWDERHR QYEQCLDFHL FYRDSEQVDS WMSRQEAFLE
510 520 530 540 550
NEDLGNSLGS AEALLQKHED FEEAFTAQEE KIITVDKTAT KLIGDDHYDS
560 570 580 590 600
ENIKAIRDGL LARRDALREK AATRRRLLKE SLLLQKLYED SDDLKNWINK
610 620 630 640 650
KKKLADDEDY KDIQNLKSRV QKQQVFEKEL AVNKTQLENI QKTGQEMIEG
660 670 680 690 700
GHYASDNVTT RLSEVASLWE ELLEATKQKG TQLHEANQQL QFENNAEDLQ
710 720 730 740 750
RWLEDVEWQV TSEDYGKGLA EVQNRLRKHG LLESAVAARQ DQVDILTDLA
760 770 780 790 800
AYFEEIGHPD SKDIRARQES LVCRFEALKE PLATRKKKLL DLLHLQLICR
810 820 830 840 850
DTEDEEAWIQ ETEPSATSTY LGKDLIASKK LLNRHRVILE NIASHEPRIQ
860 870 880 890 900
EITERGNKMV EEGHFAAEDV ASRVKSLNQN MESLRARAAR RQNDLEANVQ
910 920 930 940 950
FQQYLADLHE AETWIREKEP IVDNTNYGAD EEAAGALLKK HEAFLLDLNS
960 970 980 990 1000
FGDSMKALRN QANACQQQQA APVEGVAGEQ RVMALYDFQA RSPREVTMKK
1010 1020 1030 1040 1050
GDVLTLLSSI NKDWWKVEAA DHQGIVPAVY VRRLAHDEFP MLPQRRREEP
1060 1070 1080 1090 1100
GNITQRQEQI ENQYRSLLDR AEERRRRLLQ RYNEFLLAYE AGDMLEWIQE
1110 1120 1130 1140 1150
KKAENTGVEL DDVWELQKKF DEFQKDLNTN EPRLRDINKV ADDLLFEGLL
1160 1170 1180 1190 1200
TPEGAQIRQE LNSRWGSLQR LADEQRQLLG SAHAVEVFHR EADDTKEQIE
1210 1220 1230 1240 1250
KKCQALSAAD PGSDLFSVQA LQRRHEGFER DLVPLGDKVT ILGETAERLS
1260 1270 1280 1290 1300
ESHPDATEDL QRQKMELNEA WEDLQGRTKD RKESLNEAQK FYLFLSKARD
1310 1320 1330 1340 1350
LQNWISSIGG MVSSQELAED LTGIEILLER HQEHRADMEA EAPTFQALED
1360 1370 1380 1390 1400
FSAELIDSGH HASPEIEKKL QAVKLERDDL EKAWEKRKKI LDQCLELQMF
1410 1420 1430 1440 1450
QGNCDQVESW MVARENSLRS DDKSSLDSLE ALMKKRDDLD KAITAQEGKI
1460 1470 1480 1490 1500
TDLEHFAESL IADEHYAKEE IATRLQRVLD RWKALKAQLI DERTKLGDYA
1510 1520 1530 1540 1550
NLKQFYRDLE ELEEWISEML PTACDESYKD ATNIQRKYLK HQTFAHEVDG
1560 1570 1580 1590 1600
RSEQVHGVIN LGNSLIECSA CDGNEEAMKE QLEQLKEHWD HLLERTNDKG
1610 1620 1630 1640 1650
KKLNEASRQQ RFNTSIRDFE FWLSEAETLL AMKDQARDLA SAGNLLKKHQ
1660 1670 1680 1690 1700
LLEREMLARE DALKDLNTLA EDLLSSGTFN VDQIVKKKDN VNKRFLNVQE
1710 1720 1730 1740 1750
LAAAHHEKLK EAYALFQFFQ DLDDEESWIE EKLIRVSSQD YGRDLQGVQN
1760 1770 1780 1790 1800
LLKKHKRLEG ELVAHEPAIQ NVLDMAEKLK DKAAVGQEEI QLRLAQFVEH
1810 1820 1830 1840 1850
WEKLKELAKA RGLKLEESLE YLQFMQNAEE EEAWINEKNA LAVRGDCGDT
1860 1870 1880 1890 1900
LAATQSLLMK HEALENDFAV HETRVQNVCA QGEDILNKVL QEESQNKEIS
1910 1920 1930 1940 1950
SKIEALNEKT PSLAKAIAAW KLQLEDDYAF QEFNWKADVV EAWIADKETS
1960 1970 1980 1990 2000
LKTNGNGADL GDFLTLLAKQ DTLDASLQSF QQERLPEITD LKDKLISAQH
2010 2020 2030 2040 2050
NQSKAIEERY AALLKRWEQL LEASAVHRQK LLEKQLPLQK AEDLFVEFAH
2060 2070 2080 2090 2100
KASALNNWCE KMEENLSEPV HCVSLNEIRQ LQKDHEDFLA SLARAQADFK
2110 2120 2130 2140 2150
CLLELDQQIK ALGVPSSPYT WLTVEVLERT WKHLSDIIEE REQELQKEEA
2160 2170 2180 2190 2200
RQVKNFEMCQ EFEQNASTFL QWILETRAYF LDGSLLKETG TLESQLEANK
2210 2220 2230 2240 2250
RKQKEIQAMK RQLTKIVDLG DNLEDALILD IKYSTIGLAQ QWDQLYQLGL
2260 2270 2280 2290 2300
RMQHNLEQQI QAKDIKGVSE ETLKEFSTIY KHFDENLTGR LTHKEFRSCL
2310 2320 2330 2340 2350
RGLNYYLPMV EEDEHEPKFE KFLDAVDPGR KGYVSLEDYT AFLIDKESEN
2360 2370 2380 2390 2400
IKSSDEIENA FQALAEGKSY ITKEDMKQAL TPEQVSFCAT HMQQYMDPRG
2410
RSHLSGYDYV GFTNSYFGN
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 119 – 130 | Missing in AAA60575 (PubMed:2794061).CuratedAdd BLAST | 12 | |
Sequence conflicti | 395 | A → G in AAA60575 (PubMed:2794061).Curated | 1 | |
Sequence conflicti | 1410 | W → R in AAA60577 (PubMed:1689726).Curated | 1 | |
Sequence conflicti | 1410 | W → R in AAA60994 (PubMed:1689726).Curated | 1 | |
Sequence conflicti | 1570 | Missing in AAA60577 (PubMed:1689726).Curated | 1 | |
Sequence conflicti | 1570 | Missing in AAA60994 (PubMed:1689726).Curated | 1 | |
Sequence conflicti | 1570 | Missing in AAA60569 (PubMed:3000887).Curated | 1 | |
Sequence conflicti | 1891 | Q → H in AAA60577 (PubMed:1689726).Curated | 1 | |
Sequence conflicti | 1891 | Q → H in AAA60994 (PubMed:1689726).Curated | 1 | |
Sequence conflicti | 2400 – 2419 | GRSHL…SYFGN → VEAISLAMTTLASPIPTLAT NKQLLVDRRKS in AAA60577 (PubMed:1689726).CuratedAdd BLAST | 20 | |
Sequence conflicti | 2400 – 2419 | GRSHL…SYFGN → VEAISLAMTTLASPIPTLAT NKQLLVDRRKS in AAA60994 (PubMed:1689726).CuratedAdd BLAST | 20 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_001324 | 24 | I → S in EL2; Lograno. 1 Publication | 1 | |
Natural variantiVAR_001328 | 28 | R → C in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918642EnsemblClinVar. | 1 | |
Natural variantiVAR_001325 | 28 | R → H in EL2; Corbeil. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar. | 1 | |
Natural variantiVAR_001326 | 28 | R → L in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar. | 1 | |
Natural variantiVAR_001327 | 28 | R → S in EL2. 2 PublicationsCorresponds to variant dbSNP:rs121918642EnsemblClinVar. | 1 | |
Natural variantiVAR_001329 | 31 | V → A in EL2; Marseille. Corresponds to variant dbSNP:rs773826036Ensembl. | 1 | |
Natural variantiVAR_001330 | 34 | R → W in EL2; Genova. 1 PublicationCorresponds to variant dbSNP:rs201568233Ensembl. | 1 | |
Natural variantiVAR_001331 | 41 | R → W in EL2; Tunis. 1 PublicationCorresponds to variant dbSNP:rs121918640EnsemblClinVar. | 1 | |
Natural variantiVAR_001332 | 45 | R → S in EL2; Clichy. 1 PublicationCorresponds to variant dbSNP:rs121918637EnsemblClinVar. | 1 | |
Natural variantiVAR_001333 | 45 | R → T in EL2; Anastasia. 1 Publication | 1 | |
Natural variantiVAR_001334 | 46 | G → V in EL2; Culoz. 1 PublicationCorresponds to variant dbSNP:rs121918638EnsemblClinVar. | 1 | |
Natural variantiVAR_001335 | 48 | K → R in HPP. 1 PublicationCorresponds to variant dbSNP:rs121918644EnsemblClinVar. | 1 | |
Natural variantiVAR_001336 | 49 | L → F in EL2; Lyon. 1 PublicationCorresponds to variant dbSNP:rs121918639EnsemblClinVar. | 1 | |
Natural variantiVAR_038506 | 109 | S → F. Corresponds to variant dbSNP:rs3737521EnsemblClinVar. | 1 | |
Natural variantiVAR_001337 | 151 | G → D in EL2; Ponte de Sor. Corresponds to variant dbSNP:rs199725919EnsemblClinVar. | 1 | |
Natural variantiVAR_038507 | 152 | D → N. Corresponds to variant dbSNP:rs16840544EnsemblClinVar. | 1 | |
Natural variantiVAR_001338 | 154 | L → LL in EL2. | 1 | |
Natural variantiVAR_001339 | 207 | L → P in EL2 and HPP; Saint-Louis. 1 PublicationCorresponds to variant dbSNP:rs121918643EnsemblClinVar. | 1 | |
Natural variantiVAR_001340 | 260 | L → P in EL2; Nigerian. 1 PublicationCorresponds to variant dbSNP:rs121918634EnsemblClinVar. | 1 | |
Natural variantiVAR_001341 | 261 | S → P in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918636EnsemblClinVar. | 1 | |
Natural variantiVAR_001342 | 469 | H → P in EL2; Barcelona. 1 Publication | 1 | |
Natural variantiVAR_001343 | 469 | Missing in EL2; Alexandria. | 1 | |
Natural variantiVAR_001344 | 471 | Q → P in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918635EnsemblClinVar. | 1 | |
Natural variantiVAR_001345 | 701 | R → H. Corresponds to variant dbSNP:rs12090314EnsemblClinVar. | 1 | |
Natural variantiVAR_038508 | 766 | A → T. Corresponds to variant dbSNP:rs11265047Ensembl. | 1 | |
Natural variantiVAR_001346 | 791 | D → E in EL2; Jendouba. 1 PublicationCorresponds to variant dbSNP:rs7418956EnsemblClinVar. | 1 | |
Natural variantiVAR_001347 | 809 | I → V. Corresponds to variant dbSNP:rs7547313EnsemblClinVar. | 1 | |
Natural variantiVAR_001348 | 853 | T → R. Corresponds to variant dbSNP:rs35121052EnsemblClinVar. | 1 | |
Natural variantiVAR_038509 | 957 | A → V. Corresponds to variant dbSNP:rs34706737EnsemblClinVar. | 1 | |
Natural variantiVAR_001349 | 970 | A → D. Corresponds to variant dbSNP:rs35948326EnsemblClinVar. | 1 | |
Natural variantiVAR_038510 | 1163 | S → A1 PublicationCorresponds to variant dbSNP:rs2482965EnsemblClinVar. | 1 | |
Natural variantiVAR_038511 | 1330 | R → I. Corresponds to variant dbSNP:rs34214405EnsemblClinVar. | 1 | |
Natural variantiVAR_038512 | 1568 | C → R2 PublicationsCorresponds to variant dbSNP:rs863931EnsemblClinVar. | 1 | |
Natural variantiVAR_059199 | 1693 | K → Q. Corresponds to variant dbSNP:rs857725EnsemblClinVar. | 1 | |
Natural variantiVAR_059200 | 1836 | N → S. Corresponds to variant dbSNP:rs16830483EnsemblClinVar. | 1 | |
Natural variantiVAR_001350 | 1858 | L → V1 PublicationCorresponds to variant dbSNP:rs3737515EnsemblClinVar. | 1 | |
Natural variantiVAR_001351 | 2025 | A → G in Cagliari. 1 Publication | 1 | |
Natural variantiVAR_059201 | 2265 | I → T. Corresponds to variant dbSNP:rs952094EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_037662 | 1889 – 1891 | Missing in isoform 2. Curated | 3 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M61826 , M61776, M61777, M61778, M61779, M61780, M61781, M61782, M61783, M61852, M61784, M61785, M61787, M61788, M61789, M61791, M61792, M61793, M61794, M61795, M61796, M61797, M61798, M61799, M61800, M61801, M61802, M61803, M61804, M61805, M61806, M61807, M61808, M61809, M61810, M61811, M61812, M61814, M61815, M61816, M61817, M61818, M61819, M61820, M61821, M61822, M61823, M61824, M61825 Genomic DNA Translation: AAA60994.1 M61877 mRNA Translation: AAA60577.1 AL353894 Genomic DNA No translation available. M29994 , M29983, M29984, M29985, M29986, M29987, M29988, M29989, M29990, M29991, M29992, M29993 Genomic DNA Translation: AAA60575.1 M13233 Genomic DNA Translation: AAA53103.1 M11049 mRNA Translation: AAA60569.1 |
CCDSi | CCDS41423.1 [P02549-1] |
PIRi | A35716, SJHUA |
RefSeqi | NP_003117.2, NM_003126.2 [P02549-1] XP_011508218.1, XM_011509916.2 [P02549-1] |
Genome annotation databases
Ensembli | ENST00000643759.2; ENSP00000495214.1; ENSG00000163554.15 |
GeneIDi | 6708 |
KEGGi | hsa:6708 |
MANE-Selecti | ENST00000643759.2; ENSP00000495214.1; NM_003126.4; NP_003117.2 |
UCSCi | uc001fst.2, human [P02549-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M61826 , M61776, M61777, M61778, M61779, M61780, M61781, M61782, M61783, M61852, M61784, M61785, M61787, M61788, M61789, M61791, M61792, M61793, M61794, M61795, M61796, M61797, M61798, M61799, M61800, M61801, M61802, M61803, M61804, M61805, M61806, M61807, M61808, M61809, M61810, M61811, M61812, M61814, M61815, M61816, M61817, M61818, M61819, M61820, M61821, M61822, M61823, M61824, M61825 Genomic DNA Translation: AAA60994.1 M61877 mRNA Translation: AAA60577.1 AL353894 Genomic DNA No translation available. M29994 , M29983, M29984, M29985, M29986, M29987, M29988, M29989, M29990, M29991, M29992, M29993 Genomic DNA Translation: AAA60575.1 M13233 Genomic DNA Translation: AAA53103.1 M11049 mRNA Translation: AAA60569.1 |
CCDSi | CCDS41423.1 [P02549-1] |
PIRi | A35716, SJHUA |
RefSeqi | NP_003117.2, NM_003126.2 [P02549-1] XP_011508218.1, XM_011509916.2 [P02549-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1OWA | NMR | - | A | 1-156 | [»] | |
3LBX | X-ray | 2.80 | A | 1-158 | [»] | |
5J4O | X-ray | 1.54 | A | 1599-1826 | [»] | |
AlphaFoldDBi | P02549 | |||||
SMRi | P02549 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112586, 83 interactors |
DIPi | DIP-17031N |
IntActi | P02549, 28 interactors |
MINTi | P02549 |
STRINGi | 9606.ENSP00000357129 |
PTM databases
GlyConnecti | 2880, 1 O-Linked glycan (3 sites) |
GlyGeni | P02549, 4 sites, 1 O-linked glycan (4 sites) |
iPTMneti | P02549 |
PhosphoSitePlusi | P02549 |
Genetic variation databases
BioMutai | SPTA1 |
DMDMi | 308153675 |
Proteomic databases
EPDi | P02549 |
jPOSTi | P02549 |
MassIVEi | P02549 |
MaxQBi | P02549 |
PaxDbi | P02549 |
PeptideAtlasi | P02549 |
PRIDEi | P02549 |
ProteomicsDBi | 51533 [P02549-1] 51534 [P02549-2] |
Protocols and materials databases
Antibodypediai | 10818, 168 antibodies from 28 providers |
DNASUi | 6708 |
Genome annotation databases
Ensembli | ENST00000643759.2; ENSP00000495214.1; ENSG00000163554.15 |
GeneIDi | 6708 |
KEGGi | hsa:6708 |
MANE-Selecti | ENST00000643759.2; ENSP00000495214.1; NM_003126.4; NP_003117.2 |
UCSCi | uc001fst.2, human [P02549-1] |
Organism-specific databases
CTDi | 6708 |
DisGeNETi | 6708 |
GeneCardsi | SPTA1 |
HGNCi | HGNC:11272, SPTA1 |
HPAi | ENSG00000163554, Tissue enriched (bone) |
MalaCardsi | SPTA1 |
MIMi | 130600, phenotype 182860, gene 266140, phenotype 270970, phenotype |
neXtProti | NX_P02549 |
OpenTargetsi | ENSG00000163554 |
Orphaneti | 288, Hereditary elliptocytosis 822, Hereditary spherocytosis |
PharmGKBi | PA36101 |
VEuPathDBi | HostDB:ENSG00000163554 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0040, Eukaryota |
GeneTreei | ENSGT00940000161240 |
HOGENOMi | CLU_000847_0_0_1 |
InParanoidi | P02549 |
OMAi | DYKDTQN |
OrthoDBi | 1011028at2759 |
PhylomeDBi | P02549 |
TreeFami | TF343803 |
Enzyme and pathway databases
PathwayCommonsi | P02549 |
Reactomei | R-HSA-375165, NCAM signaling for neurite out-growth R-HSA-445095, Interaction between L1 and Ankyrins R-HSA-5673001, RAF/MAP kinase cascade R-HSA-6807878, COPI-mediated anterograde transport |
SignaLinki | P02549 |
SIGNORi | P02549 |
Miscellaneous databases
BioGRID-ORCSi | 6708, 12 hits in 1074 CRISPR screens |
ChiTaRSi | SPTA1, human |
EvolutionaryTracei | P02549 |
GeneWikii | Spectrin,_alpha_1 |
GenomeRNAii | 6708 |
Pharosi | P02549, Tbio |
PROi | PR:P02549 |
RNActi | P02549, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163554, Expressed in trabecular bone tissue and 105 other tissues |
Genevisiblei | P02549, HS |
Family and domain databases
CDDi | cd00176, SPEC, 12 hits |
DisProti | DP01700 |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR014837, EF-hand_Ca_insen IPR002048, EF_hand_dom IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR018159, Spectrin/alpha-actinin IPR002017, Spectrin_repeat |
Pfami | View protein in Pfam PF08726, EFhand_Ca_insen, 1 hit PF00018, SH3_1, 1 hit PF00435, Spectrin, 20 hits |
SMARTi | View protein in SMART SM00326, SH3, 1 hit SM00150, SPEC, 20 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF50044, SSF50044, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 3 hits PS50002, SH3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SPTA1_HUMAN | |
Accessioni | P02549Primary (citable) accession number: P02549 Secondary accession number(s): Q15514 Q6LDY5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
Last sequence update: | October 5, 2010 | |
Last modified: | May 25, 2022 | |
This is version 241 of the entry and version 5 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families