UniProtKB - Q13813 (SPTN1_HUMAN)
Spectrin alpha chain, non-erythrocytic 1
SPTAN1
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 2336 – 2347 | 1PROSITE-ProRule annotationAdd BLAST | 12 | |
Calcium bindingi | 2379 – 2390 | 2PROSITE-ProRule annotationAdd BLAST | 12 |
GO - Molecular functioni
- actin binding Source: ProtInc
- cadherin binding Source: BHF-UCL
- calcium ion binding Source: InterPro
- calmodulin binding Source: UniProtKB-KW
- structural constituent of cytoskeleton Source: ProtInc
GO - Biological processi
- actin filament capping Source: UniProtKB-KW
- axon guidance Source: Reactome
- endoplasmic reticulum to Golgi vesicle-mediated transport Source: Reactome
- MAPK cascade Source: Reactome
- neutrophil degranulation Source: Reactome
Keywordsi
Molecular function | Actin capping, Actin-binding, Calmodulin-binding |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q13813 |
Reactomei | R-HSA-264870, Caspase-mediated cleavage of cytoskeletal proteins R-HSA-373753, Nephrin family interactions 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-6798695, Neutrophil degranulation R-HSA-6807878, COPI-mediated anterograde transport |
SIGNORi | Q13813 |
Names & Taxonomyi
Protein namesi | Recommended name: Spectrin alpha chain, non-erythrocytic 1Alternative name(s): Alpha-II spectrin Fodrin alpha chain Spectrin, non-erythroid alpha subunit |
Gene namesi | Name:SPTAN1 Synonyms:NEAS, SPTA2 |
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
EuPathDBi | HostDB:ENSG00000197694.13 |
HGNCi | HGNC:11273, SPTAN1 |
MIMi | 182810, gene |
neXtProti | NX_Q13813 |
Subcellular locationi
Cytoskeleton
Other locations
Note: Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells.By similarity
Cytoskeleton
- microtubule cytoskeleton Source: HPA
- spectrin Source: ProtInc
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: Reactome
- extracellular vesicle Source: UniProtKB
Other locations
- intracellular membrane-bounded organelle Source: HPA
- membrane Source: ProtInc
- specific granule lumen Source: Reactome
- tertiary granule lumen Source: Reactome
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Epileptic encephalopathy, early infantile, 5 (EIEE5)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063886 | 2202 | Missing in EIEE5; could form a heterodimer with SPTBN1 but the heterodimer is thermally unstable; suggests a dominant negative effect. 2 Publications | 1 | |
Natural variantiVAR_063887 | 2304 | M → MRM in EIEE5; could form a heterodimer with SPTBN1 but the heterodimer is thermally unstable; suggests a dominant negative effect. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 6709 |
MalaCardsi | SPTAN1 |
MIMi | 613477, phenotype |
OpenTargetsi | ENSG00000197694 |
Orphaneti | 3451, West syndrome |
PharmGKBi | PA36102 |
Miscellaneous databases
Pharosi | Q13813, Tbio |
Polymorphism and mutation databases
BioMutai | SPTAN1 |
DMDMi | 94730425 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000073455 | 1 – 2472 | Spectrin alpha chain, non-erythrocytic 1Add BLAST | 2472 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 587 | PhosphoserineBy similarity | 1 | |
Modified residuei | 637 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 803 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 924 | PhosphoserineBy similarity | 1 | |
Modified residuei | 982 | PhosphoserineCombined sources | 1 | |
Modified residuei | 999 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1029 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1031 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1041 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1176 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 1190 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1207 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1217 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1291 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1306 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1323 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1338 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1519 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 1550 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1557 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1578 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1615 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1647 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2020 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 2052 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 2421 | N6-acetyllysineCombined sources | 1 |
Post-translational modificationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 1176 – 1177 | Cleavage; by mu-calpain | 2 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q13813 |
jPOSTi | Q13813 |
MassIVEi | Q13813 |
MaxQBi | Q13813 |
PaxDbi | Q13813 |
PeptideAtlasi | Q13813 |
PRIDEi | Q13813 |
ProteomicsDBi | 59689 [Q13813-1] 59690 [Q13813-2] 59691 [Q13813-3] |
PTM databases
CarbonylDBi | Q13813 |
iPTMneti | Q13813 |
MetOSitei | Q13813 |
PhosphoSitePlusi | Q13813 |
SwissPalmi | Q13813 |
Expressioni
Gene expression databases
Bgeei | ENSG00000197694, Expressed in frontal cortex and 249 other tissues |
ExpressionAtlasi | Q13813, baseline and differential |
Genevisiblei | Q13813, HS |
Organism-specific databases
HPAi | ENSG00000197694, Low tissue specificity |
Interactioni
Subunit structurei
Like erythrocyte spectrin, the spectrin-like proteins are capable of forming dimers which can further associate to tetramers.
Interacts (via C-terminal spectrin repeats) with TRPC4.
Interacts with CALM and EMD.
Interacts with isoform 1 of ACP1.
Identified in a complex with ACTN4, CASK, IQGAP1, MAGI2, NPHS1 and SPTBN1.
Interacts with SHANK3 (via ANK repeats).
Interacts with CLN3; this interaction regulates the fodrin localization at the plasma membrane (Probable).
1 Publication4 PublicationsBinary interactionsi
Hide detailsQ13813
With | #Exp. | IntAct |
---|---|---|
DISC1 [Q9NRI5] | 3 | EBI-351450,EBI-529989 |
EVL [Q9UI08] | 4 | EBI-351450,EBI-346653 |
FANCG [O15287] | 4 | EBI-351450,EBI-81610 |
MLH1 [P40692] | 7 | EBI-351450,EBI-744248 |
SPTBN1 [Q01082] | 8 | EBI-351450,EBI-351561 |
GO - Molecular functioni
- actin binding Source: ProtInc
- cadherin binding Source: BHF-UCL
- calmodulin binding Source: UniProtKB-KW
Protein-protein interaction databases
BioGRIDi | 112587, 234 interactors |
CORUMi | Q13813 |
DIPi | DIP-33141N |
IntActi | Q13813, 156 interactors |
MINTi | Q13813 |
STRINGi | 9606.ENSP00000361824 |
Miscellaneous databases
RNActi | Q13813, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q13813 |
SMRi | Q13813 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q13813 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 45 – 146 | Spectrin 1Sequence analysisAdd BLAST | 102 | |
Repeati | 150 – 251 | Spectrin 2Sequence analysisAdd BLAST | 102 | |
Repeati | 256 – 358 | Spectrin 3Sequence analysisAdd BLAST | 103 | |
Repeati | 361 – 465 | Spectrin 4Sequence analysisAdd BLAST | 105 | |
Repeati | 468 – 570 | Spectrin 5Sequence analysisAdd BLAST | 103 | |
Repeati | 574 – 676 | Spectrin 6Sequence analysisAdd BLAST | 103 | |
Repeati | 679 – 781 | Spectrin 7Sequence analysisAdd BLAST | 103 | |
Repeati | 785 – 888 | Spectrin 8Sequence analysisAdd BLAST | 104 | |
Repeati | 891 – 969 | Spectrin 9Sequence analysisAdd BLAST | 79 | |
Domaini | 967 – 1026 | SH3PROSITE-ProRule annotationAdd BLAST | 60 | |
Repeati | 1096 – 1166 | Spectrin 10Sequence analysisAdd BLAST | 71 | |
Repeati | 1233 – 1336 | Spectrin 11Sequence analysisAdd BLAST | 104 | |
Repeati | 1339 – 1442 | Spectrin 12Sequence analysis1 PublicationAdd BLAST | 104 | |
Repeati | 1446 – 1549 | Spectrin 13Sequence analysis1 PublicationAdd BLAST | 104 | |
Repeati | 1552 – 1656 | Spectrin 14Sequence analysisAdd BLAST | 105 | |
Repeati | 1659 – 1762 | Spectrin 15Sequence analysisAdd BLAST | 104 | |
Repeati | 1764 – 1868 | Spectrin 16Sequence analysisAdd BLAST | 105 | |
Repeati | 1871 – 1974 | Spectrin 17Sequence analysisAdd BLAST | 104 | |
Repeati | 1978 – 2081 | Spectrin 18Sequence analysisAdd BLAST | 104 | |
Repeati | 2092 – 2194 | Spectrin 19Sequence analysisAdd BLAST | 103 | |
Repeati | 2206 – 2310 | Spectrin 20Sequence analysisAdd BLAST | 105 | |
Domaini | 2323 – 2358 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 2366 – 2401 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 2404 – 2439 | EF-hand 3PROSITE-ProRule annotationAdd BLAST | 36 |
Sequence similaritiesi
Keywords - Domaini
Repeat, SH3 domainPhylogenomic databases
eggNOGi | KOG0040, Eukaryota |
GeneTreei | ENSGT00940000156662 |
HOGENOMi | CLU_000847_0_0_1 |
InParanoidi | Q13813 |
OrthoDBi | 543832at2759 |
PhylomeDBi | Q13813 |
TreeFami | TF343803 |
Family and domain databases
CDDi | cd00051, EFh, 1 hit cd11808, SH3_Alpha_Spectrin, 1 hit |
InterProi | View protein in InterPro IPR035825, Alpha_Spectrin_SH3 IPR011992, EF-hand-dom_pair IPR014837, EF-hand_Ca_insen IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR018159, Spectrin/alpha-actinin IPR002017, Spectrin_repeat |
Pfami | View protein in Pfam PF13499, EF-hand_7, 1 hit PF08726, EFhand_Ca_insen, 1 hit PF00018, SH3_1, 1 hit PF00435, Spectrin, 20 hits |
PRINTSi | PR00452, SH3DOMAIN |
SMARTi | View protein in SMART SM00054, EFh, 2 hits SM00326, SH3, 1 hit SM00150, SPEC, 20 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF50044, SSF50044, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 2 hits PS50222, EF_HAND_2, 3 hits PS50002, SH3, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All
This 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
MDPSGVKVLE TAEDIQERRQ QVLDRYHRFK ELSTLRRQKL EDSYRFQFFQ
60 70 80 90 100
RDAEELEKWI QEKLQIASDE NYKDPTNLQG KLQKHQAFEA EVQANSGAIV
110 120 130 140 150
KLDETGNLMI SEGHFASETI RTRLMELHRQ WELLLEKMRE KGIKLLQAQK
160 170 180 190 200
LVQYLRECED VMDWINDKEA IVTSEELGQD LEHVEVLQKK FEEFQTDMAA
210 220 230 240 250
HEERVNEVNQ FAAKLIQEQH PEEELIKTKQ DEVNAAWQRL KGLALQRQGK
260 270 280 290 300
LFGAAEVQRF NRDVDETISW IKEKEQLMAS DDFGRDLASV QALLRKHEGL
310 320 330 340 350
ERDLAALEDK VKALCAEADR LQQSHPLSAT QIQVKREELI TNWEQIRTLA
360 370 380 390 400
AERHARLNDS YRLQRFLADF RDLTSWVTEM KALINADELA SDVAGAEALL
410 420 430 440 450
DRHQEHKGEI DAHEDSFKSA DESGQALLAA GHYASDEVRE KLTVLSEERA
460 470 480 490 500
ALLELWELRR QQYEQCMDLQ LFYRDTEQVD NWMSKQEAFL LNEDLGDSLD
510 520 530 540 550
SVEALLKKHE DFEKSLSAQE EKITALDEFA TKLIQNNHYA MEDVATRRDA
560 570 580 590 600
LLSRRNALHE RAMRRRAQLA DSFHLQQFFR DSDELKSWVN EKMKTATDEA
610 620 630 640 650
YKDPSNLQGK VQKHQAFEAE LSANQSRIDA LEKAGQKLID VNHYAKDEVA
660 670 680 690 700
ARMNEVISLW KKLLEATELK GIKLREANQQ QQFNRNVEDI ELWLYEVEGH
710 720 730 740 750
LASDDYGKDL TNVQNLQKKH ALLEADVAAH QDRIDGITIQ ARQFQDAGHF
760 770 780 790 800
DAENIKKKQE ALVARYEALK EPMVARKQKL ADSLRLQQLF RDVEDEETWI
810 820 830 840 850
REKEPIAAST NRGKDLIGVQ NLLKKHQALQ AEIAGHEPRI KAVTQKGNAM
860 870 880 890 900
VEEGHFAAED VKAKLHELNQ KWEALKAKAS QRRQDLEDSL QAQQYFADAN
910 920 930 940 950
EAESWMREKE PIVGSTDYGK DEDSAEALLK KHEALMSDLS AYGSSIQALR
960 970 980 990 1000
EQAQSCRQQV APTDDETGKE LVLALYDYQE KSPREVTMKK GDILTLLNST
1010 1020 1030 1040 1050
NKDWWKVEVN DRQGFVPAAY VKKLDPAQSA SRENLLEEQG SIALRQEQID
1060 1070 1080 1090 1100
NQTRITKEAG SVSLRMKQVE ELYHSLLELG EKRKGMLEKS CKKFMLFREA
1110 1120 1130 1140 1150
NELQQWINEK EAALTSEEVG ADLEQVEVLQ KKFDDFQKDL KANESRLKDI
1160 1170 1180 1190 1200
NKVAEDLESE GLMAEEVQAV QQQEVYGMMP RDETDSKTAS PWKSARLMVH
1210 1220 1230 1240 1250
TVATFNSIKE LNERWRSLQQ LAEERSQLLG SAHEVQRFHR DADETKEWIE
1260 1270 1280 1290 1300
EKNQALNTDN YGHDLASVQA LQRKHEGFER DLAALGDKVN SLGETAERLI
1310 1320 1330 1340 1350
QSHPESAEDL QEKCTELNQA WSSLGKRADQ RKAKLGDSHD LQRFLSDFRD
1360 1370 1380 1390 1400
LMSWINGIRG LVSSDELAKD VTGAEALLER HQEHRTEIDA RAGTFQAFEQ
1410 1420 1430 1440 1450
FGQQLLAHGH YASPEIKQKL DILDQERADL EKAWVQRRMM LDQCLELQLF
1460 1470 1480 1490 1500
HRDCEQAENW MAAREAFLNT EDKGDSLDSV EALIKKHEDF DKAINVQEEK
1510 1520 1530 1540 1550
IAALQAFADQ LIAAGHYAKG DISSRRNEVL DRWRRLKAQM IEKRSKLGES
1560 1570 1580 1590 1600
QTLQQFSRDV DEIEAWISEK LQTASDESYK DPTNIQSKHQ KHQAFEAELH
1610 1620 1630 1640 1650
ANADRIRGVI DMGNSLIERG ACAGSEDAVK ARLAALADQW QFLVQKSAEK
1660 1670 1680 1690 1700
SQKLKEANKQ QNFNTGIKDF DFWLSEVEAL LASEDYGKDL ASVNNLLKKH
1710 1720 1730 1740 1750
QLLEADISAH EDRLKDLNSQ ADSLMTSSAF DTSQVKDKRD TINGRFQKIK
1760 1770 1780 1790 1800
SMAASRRAKL NESHRLHQFF RDMDDEESWI KEKKLLVGSE DYGRDLTGVQ
1810 1820 1830 1840 1850
NLRKKHKRLE AELAAHEPAI QGVLDTGKKL SDDNTIGKEE IQQRLAQFVE
1860 1870 1880 1890 1900
HWKELKQLAA ARGQRLEESL EYQQFVANVE EEEAWINEKM TLVASEDYGD
1910 1920 1930 1940 1950
TLAAIQGLLK KHEAFETDFT VHKDRVNDVC TNGQDLIKKN NHHEENISSK
1960 1970 1980 1990 2000
MKGLNGKVSD LEKAAAQRKA KLDENSAFLQ FNWKADVVES WIGEKENSLK
2010 2020 2030 2040 2050
TDDYGRDLSS VQTLLTKQET FDAGLQAFQQ EGIANITALK DQLLAAKHVQ
2060 2070 2080 2090 2100
SKAIEARHAS LMKRWSQLLA NSAARKKKLL EAQSHFRKVE DLFLTFAKKA
2110 2120 2130 2140 2150
SAFNSWFENA EEDLTDPVRC NSLEEIKALR EAHDAFRSSL SSAQADFNQL
2160 2170 2180 2190 2200
AELDRQIKSF RVASNPYTWF TMEALEETWR NLQKIIKERE LELQKEQRRQ
2210 2220 2230 2240 2250
EENDKLRQEF AQHANAFHQW IQETRTYLLD GSCMVEESGT LESQLEATKR
2260 2270 2280 2290 2300
KHQEIRAMRS QLKKIEDLGA AMEEALILDN KYTEHSTVGL AQQWDQLDQL
2310 2320 2330 2340 2350
GMRMQHNLEQ QIQARNTTGV TEEALKEFSM MFKHFDKDKS GRLNHQEFKS
2360 2370 2380 2390 2400
CLRSLGYDLP MVEEGEPDPE FEAILDTVDP NRDGHVSLQE YMAFMISRET
2410 2420 2430 2440 2450
ENVKSSEEIE SAFRALSSEG KPYVTKEELY QNLTREQADY CVSHMKPYVD
2460 2470
GKGRELPTAF DYVEFTRSLF VN
Computationally mapped potential isoform sequencesi
There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0D9SGF6 | A0A0D9SGF6_HUMAN | Spectrin alpha chain, non-erythrocy... | SPTAN1 | 2,498 | Annotation score: | ||
A0A0D9SF54 | A0A0D9SF54_HUMAN | Spectrin alpha chain, non-erythrocy... | SPTAN1 | 2,457 | Annotation score: | ||
A0A0D9SFH4 | A0A0D9SFH4_HUMAN | Spectrin alpha chain, non-erythrocy... | SPTAN1 | 68 | Annotation score: | ||
A0A1B0GUH3 | A0A1B0GUH3_HUMAN | Spectrin alpha chain, non-erythrocy... | SPTAN1 | 51 | Annotation score: | ||
A0A1B0GTB7 | A0A1B0GTB7_HUMAN | Spectrin alpha chain, non-erythrocy... | SPTAN1 | 22 | Annotation score: | ||
A0A1B0GTD1 | A0A1B0GTD1_HUMAN | Spectrin alpha chain, non-erythrocy... | SPTAN1 | 28 | Annotation score: | ||
A0A0D9SFF6 | A0A0D9SFF6_HUMAN | Spectrin alpha chain, non-erythrocy... | SPTAN1 | 153 | Annotation score: | ||
A0A1B0GW19 | A0A1B0GW19_HUMAN | Spectrin alpha chain, non-erythrocy... | SPTAN1 | 11 | Annotation score: | ||
A0A1B0GUN2 | A0A1B0GUN2_HUMAN | Spectrin alpha chain, non-erythrocy... | SPTAN1 | 25 | Annotation score: | ||
A0A1B0GV13 | A0A1B0GV13_HUMAN | Spectrin alpha chain, non-erythrocy... | SPTAN1 | 103 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 150 | K → N in AAA51790 (PubMed:2307671).Curated | 1 | |
Sequence conflicti | 498 | S → F in AAA51790 (PubMed:2307671).Curated | 1 | |
Sequence conflicti | 737 | I → V in AAA51790 (PubMed:2307671).Curated | 1 | |
Sequence conflicti | 737 | I → V in AAA52468 (PubMed:3691949).Curated | 1 | |
Sequence conflicti | 737 | I → V in AAA51702 (PubMed:3038643).Curated | 1 | |
Sequence conflicti | 1595 | F → R in AAA52468 (PubMed:3691949).Curated | 1 | |
Sequence conflicti | 1595 | F → R in AAA51702 (PubMed:3038643).Curated | 1 | |
Sequence conflicti | 1625 | S → N in AAA51790 (PubMed:2307671).Curated | 1 | |
Sequence conflicti | 1670 – 1671 | FD → IA in AAA51790 (PubMed:2307671).Curated | 2 | |
Sequence conflicti | 1918 | D → A in AAA51790 (PubMed:2307671).Curated | 1 | |
Sequence conflicti | 1971 – 1972 | KL → NV in AAA51790 (PubMed:2307671).Curated | 2 | |
Sequence conflicti | 1971 – 1972 | KL → NV in AAB41498 (PubMed:10625438).Curated | 2 | |
Sequence conflicti | 2163 | A → R in CAA60503 (PubMed:7607240).Curated | 1 | |
Sequence conflicti | 2347 – 2348 | EF → DG in AAA51790 (PubMed:2307671).Curated | 2 | |
Sequence conflicti | 2448 | Y → I in AAA51790 (PubMed:2307671).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038513 | 385 | N → S. Corresponds to variant dbSNP:rs2227863EnsemblClinVar. | 1 | |
Natural variantiVAR_035454 | 904 | S → C in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_035455 | 1017 | P → S in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_012227 | 1300 | I → T3 PublicationsCorresponds to variant dbSNP:rs1048236EnsemblClinVar. | 1 | |
Natural variantiVAR_035456 | 1794 | R → W in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_035457 | 1918 | D → N in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_063886 | 2202 | Missing in EIEE5; could form a heterodimer with SPTBN1 but the heterodimer is thermally unstable; suggests a dominant negative effect. 2 Publications | 1 | |
Natural variantiVAR_063887 | 2304 | M → MRM in EIEE5; could form a heterodimer with SPTBN1 but the heterodimer is thermally unstable; suggests a dominant negative effect. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_012271 | 1053 – 1072 | Missing in isoform 3. 2 PublicationsAdd BLAST | 20 | |
Alternative sequenceiVSP_012270 | 1586 | Q → QLSKLL in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J05243 mRNA Translation: AAA51790.1 U83867 mRNA Translation: AAB41498.1 AB191262 mRNA Translation: BAD52438.1 AB209860 mRNA Translation: BAD93097.1 Different initiation. AL356481 Genomic DNA No translation available. BC053521 mRNA Translation: AAH53521.1 M24773 mRNA Translation: AAA52468.1 M18627 mRNA Translation: AAA51702.1 U26396 mRNA Translation: AAB60364.1 AF148808 Genomic DNA Translation: AAF26672.1 X86901 mRNA Translation: CAA60503.1 |
CCDSi | CCDS48036.1 [Q13813-2] CCDS6905.1 [Q13813-1] CCDS75914.1 [Q13813-3] |
PIRi | A35715 |
RefSeqi | NP_001123910.1, NM_001130438.2 [Q13813-2] NP_001182461.1, NM_001195532.1 [Q13813-3] NP_003118.2, NM_003127.3 [Q13813-1] |
Genome annotation databases
Ensembli | ENST00000358161; ENSP00000350882; ENSG00000197694 [Q13813-3] ENST00000372731; ENSP00000361816; ENSG00000197694 [Q13813-1] ENST00000372739; ENSP00000361824; ENSG00000197694 [Q13813-2] |
GeneIDi | 6709 |
KEGGi | hsa:6709 |
UCSCi | uc004bvl.5, human [Q13813-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J05243 mRNA Translation: AAA51790.1 U83867 mRNA Translation: AAB41498.1 AB191262 mRNA Translation: BAD52438.1 AB209860 mRNA Translation: BAD93097.1 Different initiation. AL356481 Genomic DNA No translation available. BC053521 mRNA Translation: AAH53521.1 M24773 mRNA Translation: AAA52468.1 M18627 mRNA Translation: AAA51702.1 U26396 mRNA Translation: AAB60364.1 AF148808 Genomic DNA Translation: AAF26672.1 X86901 mRNA Translation: CAA60503.1 |
CCDSi | CCDS48036.1 [Q13813-2] CCDS6905.1 [Q13813-1] CCDS75914.1 [Q13813-3] |
PIRi | A35715 |
RefSeqi | NP_001123910.1, NM_001130438.2 [Q13813-2] NP_001182461.1, NM_001195532.1 [Q13813-3] NP_003118.2, NM_003127.3 [Q13813-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2FOT | X-ray | 2.45 | C | 1172-1211 | [»] | |
3F31 | X-ray | 2.30 | A/B | 1-147 | [»] | |
3FB2 | X-ray | 2.30 | A/B | 1337-1544 | [»] | |
5FW9 | X-ray | 1.55 | A | 965-1025 | [»] | |
5FWB | X-ray | 1.50 | A | 965-1022 | [»] | |
5FWC | X-ray | 1.40 | A | 965-1022 | [»] | |
BMRBi | Q13813 | |||||
SMRi | Q13813 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112587, 234 interactors |
CORUMi | Q13813 |
DIPi | DIP-33141N |
IntActi | Q13813, 156 interactors |
MINTi | Q13813 |
STRINGi | 9606.ENSP00000361824 |
PTM databases
CarbonylDBi | Q13813 |
iPTMneti | Q13813 |
MetOSitei | Q13813 |
PhosphoSitePlusi | Q13813 |
SwissPalmi | Q13813 |
Polymorphism and mutation databases
BioMutai | SPTAN1 |
DMDMi | 94730425 |
Proteomic databases
EPDi | Q13813 |
jPOSTi | Q13813 |
MassIVEi | Q13813 |
MaxQBi | Q13813 |
PaxDbi | Q13813 |
PeptideAtlasi | Q13813 |
PRIDEi | Q13813 |
ProteomicsDBi | 59689 [Q13813-1] 59690 [Q13813-2] 59691 [Q13813-3] |
Protocols and materials databases
Antibodypediai | 1910, 454 antibodies |
Genome annotation databases
Ensembli | ENST00000358161; ENSP00000350882; ENSG00000197694 [Q13813-3] ENST00000372731; ENSP00000361816; ENSG00000197694 [Q13813-1] ENST00000372739; ENSP00000361824; ENSG00000197694 [Q13813-2] |
GeneIDi | 6709 |
KEGGi | hsa:6709 |
UCSCi | uc004bvl.5, human [Q13813-1] |
Organism-specific databases
CTDi | 6709 |
DisGeNETi | 6709 |
EuPathDBi | HostDB:ENSG00000197694.13 |
GeneCardsi | SPTAN1 |
HGNCi | HGNC:11273, SPTAN1 |
HPAi | ENSG00000197694, Low tissue specificity |
MalaCardsi | SPTAN1 |
MIMi | 182810, gene 613477, phenotype |
neXtProti | NX_Q13813 |
OpenTargetsi | ENSG00000197694 |
Orphaneti | 3451, West syndrome |
PharmGKBi | PA36102 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0040, Eukaryota |
GeneTreei | ENSGT00940000156662 |
HOGENOMi | CLU_000847_0_0_1 |
InParanoidi | Q13813 |
OrthoDBi | 543832at2759 |
PhylomeDBi | Q13813 |
TreeFami | TF343803 |
Enzyme and pathway databases
PathwayCommonsi | Q13813 |
Reactomei | R-HSA-264870, Caspase-mediated cleavage of cytoskeletal proteins R-HSA-373753, Nephrin family interactions 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-6798695, Neutrophil degranulation R-HSA-6807878, COPI-mediated anterograde transport |
SIGNORi | Q13813 |
Miscellaneous databases
BioGRID-ORCSi | 6709, 14 hits in 845 CRISPR screens |
ChiTaRSi | SPTAN1, human |
EvolutionaryTracei | Q13813 |
GeneWikii | SPTAN1 |
GenomeRNAii | 6709 |
Pharosi | Q13813, Tbio |
PROi | PR:Q13813 |
RNActi | Q13813, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000197694, Expressed in frontal cortex and 249 other tissues |
ExpressionAtlasi | Q13813, baseline and differential |
Genevisiblei | Q13813, HS |
Family and domain databases
CDDi | cd00051, EFh, 1 hit cd11808, SH3_Alpha_Spectrin, 1 hit |
InterProi | View protein in InterPro IPR035825, Alpha_Spectrin_SH3 IPR011992, EF-hand-dom_pair IPR014837, EF-hand_Ca_insen IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR018159, Spectrin/alpha-actinin IPR002017, Spectrin_repeat |
Pfami | View protein in Pfam PF13499, EF-hand_7, 1 hit PF08726, EFhand_Ca_insen, 1 hit PF00018, SH3_1, 1 hit PF00435, Spectrin, 20 hits |
PRINTSi | PR00452, SH3DOMAIN |
SMARTi | View protein in SMART SM00054, EFh, 2 hits SM00326, SH3, 1 hit SM00150, SPEC, 20 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit SSF50044, SSF50044, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 2 hits PS50222, EF_HAND_2, 3 hits PS50002, SH3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SPTN1_HUMAN | |
Accessioni | Q13813Primary (citable) accession number: Q13813 Secondary accession number(s): Q13186 Q9P0V0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | May 2, 2006 | |
Last modified: | December 2, 2020 | |
This is version 222 of the entry and version 3 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 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - 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 - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations