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UniProtKB - P02549 (SPTA1_HUMAN)

Protein

Spectrin alpha chain, erythrocytic 1

Gene

SPTA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

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.

Regions

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActin capping, Actin-binding
Biological processCell shape
LigandCalcium, Metal-binding

Enzyme and pathway databases

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
SIGNORiP02549

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000163554.11
HGNCiHGNC:11272 SPTA1
MIMi182860 gene
neXtProtiNX_P02549

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs121918642EnsemblClinVar.1
Natural variantiVAR_00132528R → H in EL2; Corbeil. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar.1
Natural variantiVAR_00132628R → L in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar.1
Natural variantiVAR_00132728R → S in EL2. 2 PublicationsCorresponds to variant dbSNP:rs121918642EnsemblClinVar.1
Natural variantiVAR_00132931V → A in EL2; Marseille. Corresponds to variant dbSNP:rs773826036Ensembl.1
Natural variantiVAR_00133034R → W in EL2; Genova. 1 PublicationCorresponds to variant dbSNP:rs201568233Ensembl.1
Natural variantiVAR_00133141R → W in EL2; Tunis. 1 PublicationCorresponds to variant dbSNP:rs121918640EnsemblClinVar.1
Natural variantiVAR_00133245R → S in EL2; Clichy. 1 PublicationCorresponds to variant dbSNP:rs121918637EnsemblClinVar.1
Natural variantiVAR_00133345R → T in EL2; Anastasia. 1 Publication1
Natural variantiVAR_00133446G → V in EL2; Culoz. 1 PublicationCorresponds to variant dbSNP:rs121918638EnsemblClinVar.1
Natural variantiVAR_00133649L → F in EL2; Lyon. 1 PublicationCorresponds to variant dbSNP:rs121918639EnsemblClinVar.1
Natural variantiVAR_001337151G → D in EL2; Ponte de Sor. Corresponds to variant dbSNP:rs199725919Ensembl.1
Natural variantiVAR_001338154L → LL in EL2. 1
Natural variantiVAR_001340260L → P in EL2; Nigerian. 1 PublicationCorresponds to variant dbSNP:rs121918634EnsemblClinVar.1
Natural variantiVAR_001341261S → P in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918636EnsemblClinVar.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 dbSNP:rs121918635EnsemblClinVar.1
Natural variantiVAR_001346791D → E in EL2; Jendouba. 1 PublicationCorresponds to variant dbSNP:rs7418956EnsemblClinVar.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 dbSNP:rs121918644EnsemblClinVar.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
ProteomicsDBi51533
51534 [P02549-2]

PTM databases

iPTMnetiP02549
PhosphoSitePlusiP02549

Expressioni

Gene expression databases

BgeeiENSG00000163554 Expressed in 79 organ(s), highest expression level in trabecular bone tissue
CleanExiHS_SPTA1
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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112586, 52 interactors
DIPiDIP-17031N
IntActiP02549, 25 interactors
MINTiP02549
STRINGi9606.ENSP00000357130

Structurei

Secondary structure

12419
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP02549
SMRiP02549
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02549

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati53 – 155Spectrin 1Sequence analysisAdd BLAST103
Repeati159 – 261Spectrin 2Sequence analysisAdd BLAST103
Repeati265 – 367Spectrin 3Sequence analysisAdd BLAST103
Repeati371 – 474Spectrin 4Sequence analysisAdd BLAST104
Repeati477 – 580Spectrin 5Sequence analysisAdd BLAST104
Repeati583 – 685Spectrin 6Sequence analysisAdd BLAST103
Repeati688 – 790Spectrin 7Sequence analysisAdd BLAST103
Repeati794 – 896Spectrin 8Sequence analysisAdd BLAST103
Repeati900 – 969Spectrin 9Sequence analysisAdd BLAST70
Domaini977 – 1036SH3PROSITE-ProRule annotationAdd BLAST60
Repeati1087 – 1179Spectrin 10Sequence analysisAdd BLAST93
Repeati1185 – 1287Spectrin 11Sequence analysisAdd BLAST103
Repeati1290 – 1392Spectrin 12Sequence analysisAdd BLAST103
Repeati1396 – 1497Spectrin 13Sequence analysisAdd BLAST102
Repeati1501 – 1605Spectrin 14Sequence analysisAdd BLAST105
Repeati1608 – 1711Spectrin 15Sequence analysisAdd BLAST104
Repeati1714 – 1817Spectrin 16Sequence analysisAdd BLAST104
Repeati1820 – 1926Spectrin 17Sequence analysisAdd BLAST107
Repeati1929 – 2033Spectrin 18Sequence analysisAdd BLAST105
Repeati2044 – 2146Spectrin 19Sequence analysisAdd BLAST103
Repeati2158 – 2258Spectrin 20Sequence analysisAdd BLAST101
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

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

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

Family and domain databases

InterProiView 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
PfamiView protein in Pfam
PF08726 EFhand_Ca_insen, 1 hit
PF00018 SH3_1, 1 hit
PF00435 Spectrin, 20 hits
SMARTiView protein in SMART
SM00326 SH3, 1 hit
SM00150 SPEC, 20 hits
SUPFAMiSSF47473 SSF47473, 1 hit
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 3 hits
PS50002 SH3, 1 hit

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 dbSNP:rs121918642EnsemblClinVar.1
Natural variantiVAR_00132528R → H in EL2; Corbeil. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar.1
Natural variantiVAR_00132628R → L in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar.1
Natural variantiVAR_00132728R → S in EL2. 2 PublicationsCorresponds to variant dbSNP:rs121918642EnsemblClinVar.1
Natural variantiVAR_00132931V → A in EL2; Marseille. Corresponds to variant dbSNP:rs773826036Ensembl.1
Natural variantiVAR_00133034R → W in EL2; Genova. 1 PublicationCorresponds to variant dbSNP:rs201568233Ensembl.1
Natural variantiVAR_00133141R → W in EL2; Tunis. 1 PublicationCorresponds to variant dbSNP:rs121918640EnsemblClinVar.1
Natural variantiVAR_00133245R → S in EL2; Clichy. 1 PublicationCorresponds to variant dbSNP:rs121918637EnsemblClinVar.1
Natural variantiVAR_00133345R → T in EL2; Anastasia. 1 Publication1
Natural variantiVAR_00133446G → V in EL2; Culoz. 1 PublicationCorresponds to variant dbSNP:rs121918638EnsemblClinVar.1
Natural variantiVAR_00133548K → R in HPP. 1 PublicationCorresponds to variant dbSNP:rs121918644EnsemblClinVar.1
Natural variantiVAR_00133649L → F in EL2; Lyon. 1 PublicationCorresponds to variant dbSNP:rs121918639EnsemblClinVar.1
Natural variantiVAR_038506109S → F. Corresponds to variant dbSNP:rs3737521Ensembl.1
Natural variantiVAR_001337151G → D in EL2; Ponte de Sor. Corresponds to variant dbSNP:rs199725919Ensembl.1
Natural variantiVAR_038507152D → N. Corresponds to variant dbSNP:rs16840544EnsemblClinVar.1
Natural variantiVAR_001338154L → LL in EL2. 1
Natural variantiVAR_001339207L → P in EL2 and HPP; Saint-Louis. 1 PublicationCorresponds to variant dbSNP:rs121918643EnsemblClinVar.1
Natural variantiVAR_001340260L → P in EL2; Nigerian. 1 PublicationCorresponds to variant dbSNP:rs121918634EnsemblClinVar.1
Natural variantiVAR_001341261S → P in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918636EnsemblClinVar.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 dbSNP:rs121918635EnsemblClinVar.1
Natural variantiVAR_001345701R → H. Corresponds to variant dbSNP:rs12090314EnsemblClinVar.1
Natural variantiVAR_038508766A → T. Corresponds to variant dbSNP:rs11265047Ensembl.1
Natural variantiVAR_001346791D → E in EL2; Jendouba. 1 PublicationCorresponds to variant dbSNP:rs7418956EnsemblClinVar.1
Natural variantiVAR_001347809I → V. Corresponds to variant dbSNP:rs7547313EnsemblClinVar.1
Natural variantiVAR_001348853T → R. Corresponds to variant dbSNP:rs35121052EnsemblClinVar.1
Natural variantiVAR_038509957A → V. Corresponds to variant dbSNP:rs34706737EnsemblClinVar.1
Natural variantiVAR_001349970A → D. Corresponds to variant dbSNP:rs35948326EnsemblClinVar.1
Natural variantiVAR_0385101163S → A1 PublicationCorresponds to variant dbSNP:rs2482965EnsemblClinVar.1
Natural variantiVAR_0385111330R → I. Corresponds to variant dbSNP:rs34214405EnsemblClinVar.1
Natural variantiVAR_0385121568C → R2 PublicationsCorresponds to variant dbSNP:rs863931EnsemblClinVar.1
Natural variantiVAR_0591991693K → Q. Corresponds to variant dbSNP:rs857725EnsemblClinVar.1
Natural variantiVAR_0592001836N → S. Corresponds to variant dbSNP:rs16830483EnsemblClinVar.1
Natural variantiVAR_0013501858L → V1 PublicationCorresponds to variant dbSNP:rs3737515EnsemblClinVar.1
Natural variantiVAR_0013512025A → G in Cagliari. 1 Publication1
Natural variantiVAR_0592012265I → T. Corresponds to variant dbSNP:rs952094EnsemblClinVar.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]
ENST00000643759; ENSP00000495214; ENSG00000163554 [P02549-1]
GeneIDi6708
KEGGihsa:6708
UCSCiuc001fst.2 human [P02549-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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 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[»]
5J4OX-ray1.54A1599-1826[»]
ProteinModelPortaliP02549
SMRiP02549
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112586, 52 interactors
DIPiDIP-17031N
IntActiP02549, 25 interactors
MINTiP02549
STRINGi9606.ENSP00000357130

PTM databases

iPTMnetiP02549
PhosphoSitePlusiP02549

Polymorphism and mutation databases

BioMutaiSPTA1
DMDMi308153675

Proteomic databases

EPDiP02549
MaxQBiP02549
PaxDbiP02549
PeptideAtlasiP02549
PRIDEiP02549
ProteomicsDBi51533
51534 [P02549-2]

Protocols and materials databases

DNASUi6708
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368147; ENSP00000357129; ENSG00000163554 [P02549-1]
ENST00000643759; ENSP00000495214; ENSG00000163554 [P02549-1]
GeneIDi6708
KEGGihsa:6708
UCSCiuc001fst.2 human [P02549-1]

Organism-specific databases

CTDi6708
DisGeNETi6708
EuPathDBiHostDB:ENSG00000163554.11
GeneCardsiSPTA1
H-InvDBiHIX0028529
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
OMAiHFAHEDT
PhylomeDBiP02549
TreeFamiTF343803

Enzyme and pathway databases

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
SIGNORiP02549

Miscellaneous databases

ChiTaRSiSPTA1 human
EvolutionaryTraceiP02549
GeneWikiiSpectrin,_alpha_1
GenomeRNAii6708
PROiPR:P02549
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163554 Expressed in 79 organ(s), highest expression level in trabecular bone tissue
CleanExiHS_SPTA1
GenevisibleiP02549 HS

Family and domain databases

InterProiView 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
PfamiView protein in Pfam
PF08726 EFhand_Ca_insen, 1 hit
PF00018 SH3_1, 1 hit
PF00435 Spectrin, 20 hits
SMARTiView protein in SMART
SM00326 SH3, 1 hit
SM00150 SPEC, 20 hits
SUPFAMiSSF47473 SSF47473, 1 hit
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 3 hits
PS50002 SH3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSPTA1_HUMAN
AccessioniPrimary (citable) accession number: P02549
Secondary accession number(s): Q15514
, Q5VYL1, Q5VYL2, Q6LDY5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: October 5, 2010
Last modified: November 7, 2018
This is version 219 of the entry and version 5 of the sequence. See 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

Keywords - Technical termi

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

Documents

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

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