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Protein

Spectrin alpha chain, erythrocytic 1

Gene

SPTA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi2284 – 22951PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi2327 – 23382PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • actin filament binding Source: ProtInc
  • calcium ion binding Source: InterPro
  • Ras guanyl-nucleotide exchange factor activity Source: Reactome
  • structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Actin capping

Keywords - Biological processi

Cell shape

Keywords - Ligandi

Actin-binding, Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163554-MONOMER.
ReactomeiR-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.

Names & Taxonomyi

Protein namesi
Recommended name:
Spectrin alpha chain, erythrocytic 1
Alternative name(s):
Erythroid alpha-spectrin
Gene namesi
Name:SPTA1
Synonyms:SPTA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:11272. SPTA1.

Subcellular locationi

GO - Cellular componenti

  • actin cytoskeleton Source: BHF-UCL
  • axon Source: Ensembl
  • cuticular plate Source: Ensembl
  • cytosol Source: Reactome
  • intrinsic component of the cytoplasmic side of the plasma membrane Source: BHF-UCL
  • spectrin Source: ProtInc
  • spectrin-associated cytoskeleton Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Elliptocytosis 2 (EL2)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
See also OMIM:130600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00132424I → S in EL2; Lograno. 1 Publication1
Natural variantiVAR_00132828R → C in EL2. 1 PublicationCorresponds to variant rs121918642dbSNPEnsembl.1
Natural variantiVAR_00132528R → H in EL2; Corbeil. 1 PublicationCorresponds to variant rs28934004dbSNPEnsembl.1
Natural variantiVAR_00132628R → L in EL2. 1 PublicationCorresponds to variant rs121918641dbSNPEnsembl.1
Natural variantiVAR_00132728R → S in EL2. 2 PublicationsCorresponds to variant rs28934005dbSNPEnsembl.1
Natural variantiVAR_00132931V → A in EL2; Marseille. Corresponds to variant rs773826036dbSNPEnsembl.1
Natural variantiVAR_00133034R → W in EL2; Genova. 1 PublicationCorresponds to variant rs201568233dbSNPEnsembl.1
Natural variantiVAR_00133141R → W in EL2; Tunis. 1 PublicationCorresponds to variant rs121918640dbSNPEnsembl.1
Natural variantiVAR_00133245R → S in EL2; Clichy. 1 PublicationCorresponds to variant rs121918637dbSNPEnsembl.1
Natural variantiVAR_00133345R → T in EL2; Anastasia. 1 Publication1
Natural variantiVAR_00133446G → V in EL2; Culoz. 1 PublicationCorresponds to variant rs121918638dbSNPEnsembl.1
Natural variantiVAR_00133649L → F in EL2; Lyon. 1 PublicationCorresponds to variant rs121918639dbSNPEnsembl.1
Natural variantiVAR_001337151G → D in EL2; Ponte de Sor. Corresponds to variant rs199725919dbSNPEnsembl.1
Natural variantiVAR_001338154L → LL in EL2. 1
Natural variantiVAR_001339207L → P in EL2 and HPP; Saint-Louis. 1 PublicationCorresponds to variant rs121918643dbSNPEnsembl.1
Natural variantiVAR_001340260L → P in EL2; Nigerian. 1 PublicationCorresponds to variant rs121918634dbSNPEnsembl.1
Natural variantiVAR_001341261S → P in EL2. 1 PublicationCorresponds to variant rs121918636dbSNPEnsembl.1
Natural variantiVAR_001342469H → P in EL2; Barcelona. 1 Publication1
Natural variantiVAR_001343469Missing in EL2; Alexandria. 1
Natural variantiVAR_001344471Q → P in EL2. 1 PublicationCorresponds to variant rs121918635dbSNPEnsembl.1
Natural variantiVAR_001346791D → E in EL2; Jendouba. 1 PublicationCorresponds to variant rs7418956dbSNPEnsembl.1
Hereditary pyropoikilocytosis (HPP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
See also OMIM:266140
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00133548K → R in HPP. 1 PublicationCorresponds to variant rs121918644dbSNPEnsembl.1
Natural variantiVAR_001339207L → P in EL2 and HPP; Saint-Louis. 1 PublicationCorresponds to variant rs121918643dbSNPEnsembl.1
Spherocytosis 3 (SPH3)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.
See also OMIM:270970

Keywords - Diseasei

Disease mutation, Elliptocytosis, Hereditary hemolytic anemia, Pyropoikilocytosis

Organism-specific databases

DisGeNETi6708.
MalaCardsiSPTA1.
MIMi130600. phenotype.
266140. phenotype.
270970. phenotype.
OpenTargetsiENSG00000163554.
Orphaneti288. Hereditary elliptocytosis.
822. Hereditary spherocytosis.
PharmGKBiPA36101.

Polymorphism and mutation databases

BioMutaiSPTA1.
DMDMi308153675.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000734521 – 2419Spectrin alpha chain, erythrocytic 1Add BLAST2419

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei992PhosphoserineCombined sources1
Modified residuei1976PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP02549.
MaxQBiP02549.
PaxDbiP02549.
PeptideAtlasiP02549.
PRIDEiP02549.

PTM databases

iPTMnetiP02549.
PhosphoSitePlusiP02549.

Expressioni

Gene expression databases

BgeeiENSG00000163554.
CleanExiHS_SPTA1.
ExpressionAtlasiP02549. baseline and differential.
GenevisibleiP02549. HS.

Organism-specific databases

HPAiCAB016193.
CAB037246.
HPA028048.
HPA028253.

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 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ABI1Q8IZP02EBI-375617,EBI-375446
SPTBP112774EBI-375617,EBI-514908
SPTBN1Q010823EBI-375617,EBI-351561

GO - Molecular functioni

  • actin filament binding Source: ProtInc

Protein-protein interaction databases

BioGridi112586. 19 interactors.
DIPiDIP-1020N.
DIP-17031N.
IntActiP02549. 23 interactors.
MINTiMINT-7211599.
STRINGi9606.ENSP00000357130.

Structurei

Secondary structure

12419
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi12 – 14Combined sources3
Helixi24 – 26Combined sources3
Helixi27 – 30Combined sources4
Helixi31 – 33Combined sources3
Helixi34 – 77Combined sources44
Helixi87 – 118Combined sources32
Helixi126 – 156Combined sources31

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OWANMR-A1-156[»]
3LBXX-ray2.80A1-158[»]
ProteinModelPortaliP02549.
SMRiP02549.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02549.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati19 – 51Spectrin 1Add BLAST33
Repeati53 – 156Spectrin 2Add BLAST104
Repeati158 – 262Spectrin 3Add BLAST105
Repeati264 – 368Spectrin 4Add BLAST105
Repeati370 – 474Spectrin 5Add BLAST105
Repeati476 – 580Spectrin 6Add BLAST105
Repeati582 – 685Spectrin 7Add BLAST104
Repeati687 – 791Spectrin 8Add BLAST105
Repeati793 – 897Spectrin 9Add BLAST105
Repeati899 – 968Spectrin 10Add BLAST70
Domaini977 – 1036SH3PROSITE-ProRule annotationAdd BLAST60
Repeati1082 – 1181Spectrin 11Add BLAST100
Repeati1183 – 1287Spectrin 12Add BLAST105
Repeati1289 – 1393Spectrin 13Add BLAST105
Repeati1395 – 1498Spectrin 14Add BLAST104
Repeati1500 – 1605Spectrin 15Add BLAST106
Repeati1607 – 1711Spectrin 16Add BLAST105
Repeati1713 – 1817Spectrin 17Add BLAST105
Repeati1819 – 1926Spectrin 18Add BLAST108
Repeati1928 – 2033Spectrin 19Add BLAST106
Repeati2043 – 2147Spectrin 20Add BLAST105
Repeati2157 – 2258Spectrin 21Add BLAST102
Domaini2271 – 2306EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini2314 – 2349EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini2352 – 2386EF-hand 3PROSITE-ProRule annotationAdd BLAST35

Sequence similaritiesi

Belongs to the spectrin family.Curated
Contains 3 EF-hand domains.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation
Contains 21 spectrin repeats.Curated

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

eggNOGiKOG0035. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118813.
HOGENOMiHOG000246965.
HOVERGENiHBG059266.
InParanoidiP02549.
KOiK06114.
PhylomeDBiP02549.
TreeFamiTF343803.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR014837. EF-hand_Ca_insen.
IPR002048. EF_hand_dom.
IPR001452. SH3_domain.
IPR018159. Spectrin/alpha-actinin.
IPR013315. Spectrin_alpha_SH3.
IPR002017. Spectrin_repeat.
[Graphical view]
PfamiPF08726. EFhand_Ca_insen. 1 hit.
PF00018. SH3_1. 1 hit.
PF00435. Spectrin. 20 hits.
[Graphical view]
PRINTSiPR01887. SPECTRNALPHA.
SMARTiSM00326. SH3. 1 hit.
SM00150. SPEC. 20 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF50044. SSF50044. 1 hit.
PROSITEiPS50222. EF_HAND_2. 3 hits.
PS50002. SH3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P02549-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:2,419
Mass (Da):280,014
Last modified:October 5, 2010 - v5
Checksum:iB60680145C58DF55
GO
Isoform 2 (identifier: P02549-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1889-1891: Missing.

Note: Gene prediction based on EST data.
Show »
Length:2,416
Mass (Da):279,674
Checksum:iC3824332610EF99C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti119 – 130Missing in AAA60575 (PubMed:2794061).CuratedAdd BLAST12
Sequence conflicti395A → G in AAA60575 (PubMed:2794061).Curated1
Sequence conflicti1410W → R in AAA60577 (PubMed:1689726).Curated1
Sequence conflicti1410W → R in AAA60994 (PubMed:1689726).Curated1
Sequence conflicti1570Missing in AAA60577 (PubMed:1689726).Curated1
Sequence conflicti1570Missing in AAA60994 (PubMed:1689726).Curated1
Sequence conflicti1570Missing in AAA60569 (PubMed:3000887).Curated1
Sequence conflicti1891Q → H in AAA60577 (PubMed:1689726).Curated1
Sequence conflicti1891Q → H in AAA60994 (PubMed:1689726).Curated1
Sequence conflicti2400 – 2419GRSHL…SYFGN → VEAISLAMTTLASPIPTLAT NKQLLVDRRKS in AAA60577 (PubMed:1689726).CuratedAdd BLAST20
Sequence conflicti2400 – 2419GRSHL…SYFGN → VEAISLAMTTLASPIPTLAT NKQLLVDRRKS in AAA60994 (PubMed:1689726).CuratedAdd BLAST20

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00132424I → S in EL2; Lograno. 1 Publication1
Natural variantiVAR_00132828R → C in EL2. 1 PublicationCorresponds to variant rs121918642dbSNPEnsembl.1
Natural variantiVAR_00132528R → H in EL2; Corbeil. 1 PublicationCorresponds to variant rs28934004dbSNPEnsembl.1
Natural variantiVAR_00132628R → L in EL2. 1 PublicationCorresponds to variant rs121918641dbSNPEnsembl.1
Natural variantiVAR_00132728R → S in EL2. 2 PublicationsCorresponds to variant rs28934005dbSNPEnsembl.1
Natural variantiVAR_00132931V → A in EL2; Marseille. Corresponds to variant rs773826036dbSNPEnsembl.1
Natural variantiVAR_00133034R → W in EL2; Genova. 1 PublicationCorresponds to variant rs201568233dbSNPEnsembl.1
Natural variantiVAR_00133141R → W in EL2; Tunis. 1 PublicationCorresponds to variant rs121918640dbSNPEnsembl.1
Natural variantiVAR_00133245R → S in EL2; Clichy. 1 PublicationCorresponds to variant rs121918637dbSNPEnsembl.1
Natural variantiVAR_00133345R → T in EL2; Anastasia. 1 Publication1
Natural variantiVAR_00133446G → V in EL2; Culoz. 1 PublicationCorresponds to variant rs121918638dbSNPEnsembl.1
Natural variantiVAR_00133548K → R in HPP. 1 PublicationCorresponds to variant rs121918644dbSNPEnsembl.1
Natural variantiVAR_00133649L → F in EL2; Lyon. 1 PublicationCorresponds to variant rs121918639dbSNPEnsembl.1
Natural variantiVAR_038506109S → F.Corresponds to variant rs3737521dbSNPEnsembl.1
Natural variantiVAR_001337151G → D in EL2; Ponte de Sor. Corresponds to variant rs199725919dbSNPEnsembl.1
Natural variantiVAR_038507152D → N.Corresponds to variant rs16840544dbSNPEnsembl.1
Natural variantiVAR_001338154L → LL in EL2. 1
Natural variantiVAR_001339207L → P in EL2 and HPP; Saint-Louis. 1 PublicationCorresponds to variant rs121918643dbSNPEnsembl.1
Natural variantiVAR_001340260L → P in EL2; Nigerian. 1 PublicationCorresponds to variant rs121918634dbSNPEnsembl.1
Natural variantiVAR_001341261S → P in EL2. 1 PublicationCorresponds to variant rs121918636dbSNPEnsembl.1
Natural variantiVAR_001342469H → P in EL2; Barcelona. 1 Publication1
Natural variantiVAR_001343469Missing in EL2; Alexandria. 1
Natural variantiVAR_001344471Q → P in EL2. 1 PublicationCorresponds to variant rs121918635dbSNPEnsembl.1
Natural variantiVAR_001345701R → H.Corresponds to variant rs12090314dbSNPEnsembl.1
Natural variantiVAR_038508766A → T.Corresponds to variant rs11265047dbSNPEnsembl.1
Natural variantiVAR_001346791D → E in EL2; Jendouba. 1 PublicationCorresponds to variant rs7418956dbSNPEnsembl.1
Natural variantiVAR_001347809I → V.Corresponds to variant rs7547313dbSNPEnsembl.1
Natural variantiVAR_001348853T → R.Corresponds to variant rs35121052dbSNPEnsembl.1
Natural variantiVAR_038509957A → V.Corresponds to variant rs34706737dbSNPEnsembl.1
Natural variantiVAR_001349970A → D.Corresponds to variant rs35948326dbSNPEnsembl.1
Natural variantiVAR_0385101163S → A.1 PublicationCorresponds to variant rs2482965dbSNPEnsembl.1
Natural variantiVAR_0385111330R → I.Corresponds to variant rs34214405dbSNPEnsembl.1
Natural variantiVAR_0385121568C → R.2 PublicationsCorresponds to variant rs863931dbSNPEnsembl.1
Natural variantiVAR_0591991693K → Q.Corresponds to variant rs857725dbSNPEnsembl.1
Natural variantiVAR_0592001836N → S.Corresponds to variant rs16830483dbSNPEnsembl.1
Natural variantiVAR_0013501858L → V.1 PublicationCorresponds to variant rs3737515dbSNPEnsembl.1
Natural variantiVAR_0013512025A → G in Cagliari. 1 Publication1
Natural variantiVAR_0592012265I → T.Corresponds to variant rs952094dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0376621889 – 1891Missing in isoform 2. Curated3

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. Translation: CAH73936.1.
AL353894 Genomic DNA. Translation: CAH73937.1.
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.
CCDSiCCDS41423.1. [P02549-1]
PIRiA35716. SJHUA.
RefSeqiNP_003117.2. NM_003126.2. [P02549-1]
XP_011508218.1. XM_011509916.2. [P02549-1]
UniGeneiHs.119825.

Genome annotation databases

EnsembliENST00000368147; ENSP00000357129; ENSG00000163554. [P02549-1]
GeneIDi6708.
KEGGihsa:6708.
UCSCiuc001fst.2. human. [P02549-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Translation: CAH73936.1.
AL353894 Genomic DNA. Translation: CAH73937.1.
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.
CCDSiCCDS41423.1. [P02549-1]
PIRiA35716. SJHUA.
RefSeqiNP_003117.2. NM_003126.2. [P02549-1]
XP_011508218.1. XM_011509916.2. [P02549-1]
UniGeneiHs.119825.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OWANMR-A1-156[»]
3LBXX-ray2.80A1-158[»]
ProteinModelPortaliP02549.
SMRiP02549.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112586. 19 interactors.
DIPiDIP-1020N.
DIP-17031N.
IntActiP02549. 23 interactors.
MINTiMINT-7211599.
STRINGi9606.ENSP00000357130.

PTM databases

iPTMnetiP02549.
PhosphoSitePlusiP02549.

Polymorphism and mutation databases

BioMutaiSPTA1.
DMDMi308153675.

Proteomic databases

EPDiP02549.
MaxQBiP02549.
PaxDbiP02549.
PeptideAtlasiP02549.
PRIDEiP02549.

Protocols and materials databases

DNASUi6708.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368147; ENSP00000357129; ENSG00000163554. [P02549-1]
GeneIDi6708.
KEGGihsa:6708.
UCSCiuc001fst.2. human. [P02549-1]

Organism-specific databases

CTDi6708.
DisGeNETi6708.
GeneCardsiSPTA1.
H-InvDBHIX0028529.
HGNCiHGNC:11272. SPTA1.
HPAiCAB016193.
CAB037246.
HPA028048.
HPA028253.
MalaCardsiSPTA1.
MIMi130600. phenotype.
182860. gene.
266140. phenotype.
270970. phenotype.
neXtProtiNX_P02549.
OpenTargetsiENSG00000163554.
Orphaneti288. Hereditary elliptocytosis.
822. Hereditary spherocytosis.
PharmGKBiPA36101.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0035. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118813.
HOGENOMiHOG000246965.
HOVERGENiHBG059266.
InParanoidiP02549.
KOiK06114.
PhylomeDBiP02549.
TreeFamiTF343803.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163554-MONOMER.
ReactomeiR-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.

Miscellaneous databases

ChiTaRSiSPTA1. human.
EvolutionaryTraceiP02549.
GeneWikiiSpectrin,_alpha_1.
GenomeRNAii6708.
PROiP02549.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163554.
CleanExiHS_SPTA1.
ExpressionAtlasiP02549. baseline and differential.
GenevisibleiP02549. HS.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR014837. EF-hand_Ca_insen.
IPR002048. EF_hand_dom.
IPR001452. SH3_domain.
IPR018159. Spectrin/alpha-actinin.
IPR013315. Spectrin_alpha_SH3.
IPR002017. Spectrin_repeat.
[Graphical view]
PfamiPF08726. EFhand_Ca_insen. 1 hit.
PF00018. SH3_1. 1 hit.
PF00435. Spectrin. 20 hits.
[Graphical view]
PRINTSiPR01887. SPECTRNALPHA.
SMARTiSM00326. SH3. 1 hit.
SM00150. SPEC. 20 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF50044. SSF50044. 1 hit.
PROSITEiPS50222. EF_HAND_2. 3 hits.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSPTA1_HUMAN
AccessioniPrimary (citable) accession number: P02549
Secondary accession number(s): Q15514
, Q5VYL1, Q5VYL2, Q6LDY5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: October 5, 2010
Last modified: November 30, 2016
This is version 201 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Miscellaneous

This complex is anchored to the cytoplasmic face of the plasma membrane via another protein, ankyrin, which binds to beta-spectrin and mediates the binding of the whole complex to a transmembrane protein band 3. The interaction of erythrocyte spectrin with other proteins through specific binding domains lead to the formation of an extensive subplasmalemmal meshwork which is thought to be responsible for the maintenance of the biconcave shape of human erythrocytes, for the regulation of plasma membrane components and for the maintenance of the lipid asymmetry of the plasma membrane.

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.