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Protein

Ankyrin-3

Gene

ANK3

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

Functioni

In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg2+ levels, and thereby contributes to the regulation of renal Mg2+ reabsorption (PubMed:23903368).By similarity1 Publication
Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.1 Publication

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • cytoskeletal protein binding Source: BHF-UCL
  • ion channel binding Source: BHF-UCL
  • protein binding, bridging Source: BHF-UCL
  • spectrin binding Source: BHF-UCL
  • structural constituent of cytoskeleton Source: BHF-UCL

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-6807878 COPI-mediated anterograde transport

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin-31 Publication
Short name:
ANK-31 Publication
Alternative name(s):
Ankyrin-G1 Publication
Gene namesi
Name:ANK3Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000151150.20
HGNCiHGNC:494 ANK3
MIMi600465 gene
neXtProtiNX_Q12955

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

Cell junction, Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Golgi apparatus, Lysosome, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Genetic variations in ANK3 may be associated with autism spectrum disorders susceptibility.1 Publication
Mental retardation, autosomal recessive 37 (MRT37)
The disease is caused by mutations affecting the gene represented in this entry. A homozygous deletion in ANK3 predicted to result in frameshift and premature truncation, has been shown to be the cause of moderate intellectual disability, an ADHD-like phenotype and behavioral problems in a consanguineous family (PubMed:23390136).1 Publication
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth.
See also OMIM:615493

Keywords - Diseasei

Autism spectrum disorder, Mental retardation

Organism-specific databases

DisGeNETi288
MalaCardsiANK3
MIMi615493 phenotype
OpenTargetsiENSG00000151150
Orphaneti356996 Intellectual disability - hypotonia - spasticity - sleep disorder
3140 Schizophrenia
PharmGKBiPA24800

Polymorphism and mutation databases

BioMutaiANK3
DMDMi257051061

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000668861 – 4377Ankyrin-3Add BLAST4377

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei39PhosphoserineCombined sources1
Modified residuei623PhosphoserineBy similarity1
Modified residuei847PhosphoserineCombined sources1
Modified residuei861PhosphoserineBy similarity1
Modified residuei867PhosphoserineBy similarity1
Modified residuei913PhosphoserineBy similarity1
Modified residuei916PhosphoserineBy similarity1
Modified residuei922PhosphoserineBy similarity1
Modified residuei957PhosphoserineBy similarity1
Modified residuei959PhosphoserineBy similarity1
Modified residuei1113PhosphoserineBy similarity1
Modified residuei1445PhosphoserineCombined sources1
Modified residuei1459PhosphoserineCombined sources1
Modified residuei1470PhosphoserineBy similarity1
Modified residuei1622PhosphoserineBy similarity1
Modified residuei1625PhosphoserineBy similarity1
Modified residuei1984PhosphoserineBy similarity1
Modified residuei2111PhosphoserineBy similarity1
Modified residuei2123PhosphoserineBy similarity1
Modified residuei2126PhosphoserineBy similarity1
Modified residuei4211PhosphoserineBy similarity1
Modified residuei4229PhosphoserineCombined sources1
Modified residuei4290PhosphoserineCombined sources1
Modified residuei4298PhosphoserineCombined sources1
Modified residuei4350PhosphoserineCombined sources1
Isoform 5 (identifier: Q12955-7)
Modified residuei468PhosphoserineCombined sources1
Isoform 4 (identifier: Q12955-6)
Modified residuei765PhosphoserineCombined sources1
Modified residuei791PhosphoserineCombined sources1
Isoform 3 (identifier: Q12955-5)
Modified residuei1625PhosphoserineCombined sources1
Modified residuei1651PhosphoserineCombined sources1
Isoform 2 (identifier: Q12955-4)
Modified residuei1632PhosphoserineCombined sources1
Modified residuei1658PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ12955
MaxQBiQ12955
PaxDbiQ12955
PeptideAtlasiQ12955
PRIDEiQ12955
ProteomicsDBi59048

PTM databases

iPTMnetiQ12955
PhosphoSitePlusiQ12955
SwissPalmiQ12955

Expressioni

Tissue specificityi

Expressed in brain, neurons, muscles and other tissues.2 Publications

Developmental stagei

Up-regulated during muscle cell differentiation.1 Publication

Gene expression databases

BgeeiENSG00000151150 Expressed in 234 organ(s), highest expression level in substantia nigra
CleanExiHS_ANK3
ExpressionAtlasiQ12955 baseline and differential
GenevisibleiQ12955 HS

Organism-specific databases

HPAiCAB013249
CAB015179
HPA038455
HPA055643

Interactioni

Subunit structurei

Directly interacts with DMD and betaDAG1. This interaction does not interfere with binding between DMD and betaDAG1. It is also required for DMD and betaDAG1 retention at costameres (By similarity). Interacts (via N-terminal ANK repeats) with SCHIP1 isoform 5 (via C-terminus); this interaction is required for the localization at axon initial segments (AISs) and nodes of Ranvier (NRs) (By similarity). May be a constituent of a NFASC/NRCAM/ankyrin G complex. Interacts with RHBG (PubMed:15611082). Interacts with PLEC and FLNC (PubMed:21223964). Interacts with KCNA1; this inhibits channel activity (PubMed:23903368). Interacts (via ANK repeats) with IQCJ-SCHIP1; required for IQCJ-SCHIP1 localization at axon initial segments (AIS) and nodes of Ranvier (PubMed:25950943). Interacts with SCHIP1 (PubMed:25950943).By similarity4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106785, 43 interactors
CORUMiQ12955
DIPiDIP-49017N
ELMiQ12955
IntActiQ12955, 20 interactors
MINTiQ12955
STRINGi9606.ENSP00000280772

Structurei

Secondary structure

14377
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ12955
SMRiQ12955
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati73 – 102ANK 1Add BLAST30
Repeati106 – 135ANK 2Add BLAST30
Repeati139 – 168ANK 3Add BLAST30
Repeati172 – 201ANK 4Add BLAST30
Repeati203 – 230ANK 5Add BLAST28
Repeati234 – 263ANK 6Add BLAST30
Repeati267 – 296ANK 7Add BLAST30
Repeati300 – 329ANK 8Add BLAST30
Repeati333 – 362ANK 9Add BLAST30
Repeati366 – 395ANK 10Add BLAST30
Repeati399 – 428ANK 11Add BLAST30
Repeati432 – 461ANK 12Add BLAST30
Repeati465 – 494ANK 13Add BLAST30
Repeati498 – 527ANK 14Add BLAST30
Repeati531 – 560ANK 15Add BLAST30
Repeati564 – 593ANK 16Add BLAST30
Repeati597 – 626ANK 17Add BLAST30
Repeati630 – 659ANK 18Add BLAST30
Repeati663 – 692ANK 19Add BLAST30
Repeati696 – 725ANK 20Add BLAST30
Repeati729 – 758ANK 21Add BLAST30
Repeati762 – 791ANK 22Add BLAST30
Repeati795 – 825ANK 23Add BLAST31
Domaini984 – 1139ZU5 1PROSITE-ProRule annotationAdd BLAST156
Domaini1141 – 1288ZU5 2PROSITE-ProRule annotationAdd BLAST148
Domaini4090 – 4174DeathPROSITE-ProRule annotationAdd BLAST85

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1273 – 1407UPA domainBy similarityAdd BLAST135

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1519 – 1898Ser-richAdd BLAST380
Compositional biasi2247 – 2250Poly-Thr4
Compositional biasi2393 – 2396Poly-Glu4
Compositional biasi3205 – 3211Poly-Glu7
Compositional biasi3255 – 3259Poly-Pro5
Compositional biasi3482 – 3487Poly-Ser6
Compositional biasi3785 – 3791Poly-Asn7
Compositional biasi3957 – 3981Thr-richAdd BLAST25

Domaini

The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function other than binding to spectrin (By similarity).By similarity

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG4177 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00840000129677
HOGENOMiHOG000012873
HOVERGENiHBG072717
InParanoidiQ12955
KOiK10380
OMAiDQSITEC
OrthoDBiEOG091G00GN
PhylomeDBiQ12955
TreeFamiTF351263

Family and domain databases

CDDicd00204 ANK, 7 hits
cd08803 Death_ank3, 1 hit
Gene3Di1.25.40.20, 3 hits
InterProiView protein in InterPro
IPR037971 Ank3_Death
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
IPR000906 ZU5_dom
PfamiView protein in Pfam
PF12796 Ank_2, 7 hits
PF13606 Ank_3, 1 hit
PF00531 Death, 1 hit
PF00791 ZU5, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 22 hits
SM00005 DEATH, 1 hit
SM00218 ZU5, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
SSF48403 SSF48403, 3 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 21 hits
PS50017 DEATH_DOMAIN, 1 hit
PS51145 ZU5, 2 hits

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 22 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12955-3) [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
MAHAASQLKK NRDLEINAEE EPEKKRKHRK RSRDRKKKSD ANASYLRAAR
60 70 80 90 100
AGHLEKALDY IKNGVDINIC NQNGLNALHL ASKEGHVEVV SELLQREANV
110 120 130 140 150
DAATKKGNTA LHIASLAGQA EVVKVLVTNG ANVNAQSQNG FTPLYMAAQE
160 170 180 190 200
NHLEVVKFLL DNGASQSLAT EDGFTPLAVA LQQGHDQVVS LLLENDTKGK
210 220 230 240 250
VRLPALHIAA RKDDTKAAAL LLQNDNNADV ESKSGFTPLH IAAHYGNINV
260 270 280 290 300
ATLLLNRAAA VDFTARNDIT PLHVASKRGN ANMVKLLLDR GAKIDAKTRD
310 320 330 340 350
GLTPLHCGAR SGHEQVVEML LDRAAPILSK TKNGLSPLHM ATQGDHLNCV
360 370 380 390 400
QLLLQHNVPV DDVTNDYLTA LHVAAHCGHY KVAKVLLDKK ANPNAKALNG
410 420 430 440 450
FTPLHIACKK NRIKVMELLL KHGASIQAVT ESGLTPIHVA AFMGHVNIVS
460 470 480 490 500
QLMHHGASPN TTNVRGETAL HMAARSGQAE VVRYLVQDGA QVEAKAKDDQ
510 520 530 540 550
TPLHISARLG KADIVQQLLQ QGASPNAATT SGYTPLHLSA REGHEDVAAF
560 570 580 590 600
LLDHGASLSI TTKKGFTPLH VAAKYGKLEV ANLLLQKSAS PDAAGKSGLT
610 620 630 640 650
PLHVAAHYDN QKVALLLLDQ GASPHAAAKN GYTPLHIAAK KNQMDIATTL
660 670 680 690 700
LEYGADANAV TRQGIASVHL AAQEGHVDMV SLLLGRNANV NLSNKSGLTP
710 720 730 740 750
LHLAAQEDRV NVAEVLVNQG AHVDAQTKMG YTPLHVGCHY GNIKIVNFLL
760 770 780 790 800
QHSAKVNAKT KNGYTPLHQA AQQGHTHIIN VLLQNNASPN ELTVNGNTAL
810 820 830 840 850
GIARRLGYIS VVDTLKIVTE ETMTTTTVTE KHKMNVPETM NEVLDMSDDE
860 870 880 890 900
VRKANAPEML SDGEYISDVE EGEDAMTGDT DKYLGPQDLK ELGDDSLPAE
910 920 930 940 950
GYMGFSLGAR SASLRSFSSD RSYTLNRSSY ARDSMMIEEL LVPSKEQHLT
960 970 980 990 1000
FTREFDSDSL RHYSWAADTL DNVNLVSSPI HSGFLVSFMV DARGGSMRGS
1010 1020 1030 1040 1050
RHHGMRIIIP PRKCTAPTRI TCRLVKRHKL ANPPPMVEGE GLASRLVEMG
1060 1070 1080 1090 1100
PAGAQFLGPV IVEIPHFGSM RGKERELIVL RSENGETWKE HQFDSKNEDL
1110 1120 1130 1140 1150
TELLNGMDEE LDSPEELGKK RICRIITKDF PQYFAVVSRI KQESNQIGPE
1160 1170 1180 1190 1200
GGILSSTTVP LVQASFPEGA LTKRIRVGLQ AQPVPDEIVK KILGNKATFS
1210 1220 1230 1240 1250
PIVTVEPRRR KFHKPITMTI PVPPPSGEGV SNGYKGDTTP NLRLLCSITG
1260 1270 1280 1290 1300
GTSPAQWEDI TGTTPLTFIK DCVSFTTNVS ARFWLADCHQ VLETVGLATQ
1310 1320 1330 1340 1350
LYRELICVPY MAKFVVFAKM NDPVESSLRC FCMTDDKVDK TLEQQENFEE
1360 1370 1380 1390 1400
VARSKDIEVL EGKPIYVDCY GNLAPLTKGG QQLVFNFYSF KENRLPFSIK
1410 1420 1430 1440 1450
IRDTSQEPCG RLSFLKEPKT TKGLPQTAVC NLNITLPAHK KETESDQDDE
1460 1470 1480 1490 1500
IEKTDRRQSF ASLALRKRYS YLTEPGMIER STGATRSLPT TYSYKPFFST
1510 1520 1530 1540 1550
RPYQSWTTAP ITVPGPAKSG FTSLSSSSSN TPSASPLKSI WSVSTPSPIK
1560 1570 1580 1590 1600
STLGASTTSS VKSISDVASP IRSFRTMSSP IKTVVSQSPY NIQVSSGTLA
1610 1620 1630 1640 1650
RAPAVTEATP LKGLASNSTF SSRTSPVTTA GSLLERSSIT MTPPASPKSN
1660 1670 1680 1690 1700
INMYSSSLPF KSIITSAAPL ISSPLKSVVS PVKSAVDVIS SAKITMASSL
1710 1720 1730 1740 1750
SSPVKQMPGH AEVALVNGSI SPLKYPSSST LINGCKATAT LQEKISSATN
1760 1770 1780 1790 1800
SVSSVVSAAT DTVEKVFSTT TAMPFSPLRS YVSAAPSAFQ SLRTPSASAL
1810 1820 1830 1840 1850
YTSLGSSISA TTSSVTSSII TVPVYSVVNV LPEPALKKLP DSNSFTKSAA
1860 1870 1880 1890 1900
ALLSPIKTLT TETHPQPHFS RTSSPVKSSL FLAPSALKLS TPSSLSSSQE
1910 1920 1930 1940 1950
ILKDVAEMKE DLMRMTAILQ TDVPEEKPFQ PELPKEGRID DEEPFKIVEK
1960 1970 1980 1990 2000
VKEDLVKVSE ILKKDVCVDN KGSPKSPKSD KGHSPEDDWI EFSSEEIREA
2010 2020 2030 2040 2050
RQQAAASQSP SLPERVQVKA KAASEKDYNL TKVIDYLTND IGSSSLTNLK
2060 2070 2080 2090 2100
YKFEDAKKDG EERQKRVLKP AIALQEHKLK MPPASMRTST SEKELCKMAD
2110 2120 2130 2140 2150
SFFGTDTILE SPDDFSQHDQ DKSPLSDSGF ETRSEKTPSA PQSAESTGPK
2160 2170 2180 2190 2200
PLFHEVPIPP VITETRTEVV HVIRSYDPSA GDVPQTQPEE PVSPKPSPTF
2210 2220 2230 2240 2250
MELEPKPTTS SIKEKVKAFQ MKASSEEDDH NRVLSKGMRV KEETHITTTT
2260 2270 2280 2290 2300
RMVYHSPPGG EGASERIEET MSVHDIMKAF QSGRDPSKEL AGLFEHKSAV
2310 2320 2330 2340 2350
SPDVHKSAAE TSAQHAEKDN QMKPKLERII EVHIEKGNQA EPTEVIIRET
2360 2370 2380 2390 2400
KKHPEKEMYV YQKDLSRGDI NLKDFLPEKH DAFPCSEEQG QQEEEELTAE
2410 2420 2430 2440 2450
ESLPSYLESS RVNTPVSQEE DSRPSSAQLI SDDSYKTLKL LSQHSIEYHD
2460 2470 2480 2490 2500
DELSELRGES YRFAEKMLLS EKLDVSHSDT EESVTDHAGP PSSELQGSDK
2510 2520 2530 2540 2550
RSREKIATAP KKEILSKIYK DVSENGVGKV SKDEHFDKVT VLHYSGNVSS
2560 2570 2580 2590 2600
PKHAMWMRFT EDRLDRGREK LIYEDRVDRT VKEAEEKLTE VSQFFRDKTE
2610 2620 2630 2640 2650
KLNDELQSPE KKARPKNGKE YSSQSPTSSS PEKVLLTELL ASNDEWVKAR
2660 2670 2680 2690 2700
QHGPDGQGFP KAEEKAPSLP SSPEKMVLSQ QTEDSKSTVE AKGSISQSKA
2710 2720 2730 2740 2750
PDGPQSGFQL KQSKLSSIRL KFEQGTHAKS KDMSQEDRKS DGQSRIPVKK
2760 2770 2780 2790 2800
IQESKLPVYQ VFAREKQQKA IDLPDESVSV QKDFMVLKTK DEHAQSNEIV
2810 2820 2830 2840 2850
VNDSGSDNVK KQRTEMSSKA MPDSFSEQQA KDLACHITSD LATRGPWDKK
2860 2870 2880 2890 2900
VFRTWESSGA TNNKSQKEKL SHVLVHDVRE NHIGHPESKS VDQKNEFMSV
2910 2920 2930 2940 2950
TERERKLLTN GSLSEIKEMT VKSPSKKVLY REYVVKEGDH PGGLLDQPSR
2960 2970 2980 2990 3000
RSESSAVSHI PVRVADERRM LSSNIPDGFC EQSAFPKHEL SQKLSQSSMS
3010 3020 3030 3040 3050
KETVETQHFN SIEDEKVTYS EISKVSKHQS YVGLCPPLEE TETSPTKSPD
3060 3070 3080 3090 3100
SLEFSPGKES PSSDVFDHSP IDGLEKLAPL AQTEGGKEIK TLPVYVSFVQ
3110 3120 3130 3140 3150
VGKQYEKEIQ QGGVKKIISQ ECKTVQETRG TFYTTRQQKQ PPSPQGSPED
3160 3170 3180 3190 3200
DTLEQVSFLD SSGKSPLTPE TPSSEEVSYE FTSKTPDSLI AYIPGKPSPI
3210 3220 3230 3240 3250
PEVSEESEEE EQAKSTSLKQ TTVEETAVER EMPNDVSKDS NQRPKNNRVA
3260 3270 3280 3290 3300
YIEFPPPPPL DADQIESDKK HHYLPEKEVD MIEVNLQDEH DKYQLAEPVI
3310 3320 3330 3340 3350
RVQPPSPVPP GADVSDSSDD ESIYQPVPVK KYTFKLKEVD DEQKEKPKAS
3360 3370 3380 3390 3400
AEKASNQKEL ESNGSGKDNE FGLGLDSPQN EIAQNGNNDQ SITECSIATT
3410 3420 3430 3440 3450
AEFSHDTDAT EIDSLDGYDL QDEDDGLTES DSKLPIQAME IKKDIWNTEG
3460 3470 3480 3490 3500
ILKPADRSFS QSKLEVIEEE GKVGPDEDKP PSKSSSSEKT PDKTDQKSGA
3510 3520 3530 3540 3550
QFFTLEGRHP DRSVFPDTYF SYKVDEEFAT PFKTVATKGL DFDPWSNNRG
3560 3570 3580 3590 3600
DDEVFDSKSR EDETKPFGLA VEDRSPATTP DTTPARTPTD ESTPTSEPNP
3610 3620 3630 3640 3650
FPFHEGKMFE MTRSGAIDMS KRDFVEERLQ FFQIGEHTSE GKSGDQGEGD
3660 3670 3680 3690 3700
KSMVTATPQP QSGDTTVETN LERNVETPTV EPNPSIPTSG ECQEGTSSSG
3710 3720 3730 3740 3750
SLEKSAAATN TSKVDPKLRT PIKMGISAST MTMKKEGPGE ITDKIEAVMT
3760 3770 3780 3790 3800
SCQGLENETI TMISNTANSQ MGVRPHEKHD FQKDNFNNNN NLDSSTIQTD
3810 3820 3830 3840 3850
NIMSNIVLTE HSAPTCTTEK DNPVKVSSGK KTGVLQGHCV RDKQKVLGEQ
3860 3870 3880 3890 3900
QKTKELIGIR QKSKLPIKAT SPKDTFPPNH MSNTKASKMK QVSQSEKTKA
3910 3920 3930 3940 3950
LTTSSCVDVK SRIPVKNTHR DNIIAVRKAC ATQKQGQPEK GKAKQLPSKL
3960 3970 3980 3990 4000
PVKVRSTCVT TTTTTATTTT TTTTTTTTSC TVKVRKSQLK EVCKHSIEYF
4010 4020 4030 4040 4050
KGISGETLKL VDRLSEEEKK MQSELSDEEE STSRNTSLSE TSRGGQPSVT
4060 4070 4080 4090 4100
TKSARDKKTE AAPLKSKSEK AGSEKRSSRR TGPQSPCERT DIRMAIVADH
4110 4120 4130 4140 4150
LGLSWTELAR ELNFSVDEIN QIRVENPNSL ISQSFMLLKK WVTRDGKNAT
4160 4170 4180 4190 4200
TDALTSVLTK INRIDIVTLL EGPIFDYGNI SGTRSFADEN NVFHDPVDGW
4210 4220 4230 4240 4250
QNETSSGNLE SCAQARRVTG GLLDRLDDSP DQCRDSITSY LKGEAGKFEA
4260 4270 4280 4290 4300
NGSHTEITPE AKTKSYFPES QNDVGKQSTK ETLKPKIHGS GHVEEPASPL
4310 4320 4330 4340 4350
AAYQKSLEET SKLIIEETKP CVPVSMKKMS RTSPADGKPR LSLHEEEGSS
4360 4370
GSEQKQGEGF KVKTKKEIRH VEKKSHS
Length:4,377
Mass (Da):480,410
Last modified:September 1, 2009 - v3
Checksum:iF6F9FABD09F15C13
GO
Isoform 2 (identifier: Q12955-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: MAHAASQLKKNRDLEINAEEEPEKKRKHRKRSRDRK → MSEEPKEKNAKPAHRKRKG
     872-872: G → GNRCTWYKIPKVQEFTVKS
     1442-1450: Missing.
     1478-4081: Missing.
     4082-4082: G → S
     4199-4199: G → GYPSLQVELE...ESQLENVCLS

Show »
Length:1,868
Mass (Da):204,142
Checksum:iC02C08780B3918ED
GO
Isoform 3 (identifier: Q12955-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: MAHAASQLKKNRDLEINAEEEPEKKRKHRKRSRDRKK → MASSASSSPAGTEDSAPAQGGFGSDYSRSSR
     1442-1450: Missing.
     1478-4081: Missing.
     4082-4082: G → S
     4199-4199: G → GYPSLQVELE...ESQLENVCLS

Show »
Length:1,861
Mass (Da):202,592
Checksum:i06C904B8371BB406
GO
Isoform 4 (identifier: Q12955-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-866: Missing.
     867-872: SDVEEG → MALPQS
     1442-1450: Missing.
     1478-4081: Missing.
     4082-4082: G → S
     4199-4199: G → GYPSLQVELE...ESQLENVCLS

Note: PubMed:11230166 (CAB66645) sequence(s) differ(s) from that shown due to (a) frameshift(s) in position(s) 810.Combined sources
Show »
Length:1,001
Mass (Da):111,099
Checksum:iEF695AFF21999D1E
GO
Isoform 5 (identifier: Q12955-7) [UniParc]FASTAAdd to basket
Also known as: AnkG119, Golgi ankyrin

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: MAHAAS → MNLRCD
     7-385: Missing.
     850-870: Missing.
     913-918: Missing.
     1036-1043: MVEGEGLA → HGERRGIS
     1442-1450: Missing.
     1478-1880: IERSTGATRS...RTSSPVKSSL → TSCTVKVRKS...IRHVEKKSHS
     1881-4377: Missing.

Note: Avidly binds beta spectrin.Combined sources
Show »
Length:1,465
Mass (Da):160,947
Checksum:i7B43551F7DB9691D
GO

Computationally mapped potential isoform sequencesi

There are 22 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZ65A0A087WZ65_HUMAN
Ankyrin-3
ANK3
973Annotation score:
H0Y3A4H0Y3A4_HUMAN
Ankyrin-3
ANK3
459Annotation score:
A0A087WTF3A0A087WTF3_HUMAN
Ankyrin-3
ANK3
1,643Annotation score:
A0A087WY90A0A087WY90_HUMAN
Ankyrin-3
ANK3
178Annotation score:
D6RHY3D6RHY3_HUMAN
Ankyrin-3
ANK3
273Annotation score:
A0A087X0B4A0A087X0B4_HUMAN
Ankyrin-3
ANK3
450Annotation score:
A0A087WTE8A0A087WTE8_HUMAN
Ankyrin-3
ANK3
241Annotation score:
H0YAH5H0YAH5_HUMAN
Ankyrin-3
ANK3
217Annotation score:
H0YA66H0YA66_HUMAN
Ankyrin-3
ANK3
187Annotation score:
A0A087WVC2A0A087WVC2_HUMAN
Ankyrin-3
ANK3
322Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti197T → A in CAI56716 (PubMed:17974005).Curated1
Sequence conflicti222L → P in CAD97900 (PubMed:17974005).Curated1
Sequence conflicti327I → V in CAD97900 (PubMed:17974005).Curated1
Sequence conflicti338L → W in BAG58523 (PubMed:14702039).Curated1
Sequence conflicti523A → T in CAD97900 (PubMed:17974005).Curated1
Sequence conflicti578L → P in CAI56716 (PubMed:17974005).Curated1
Sequence conflicti921R → G in CAB66645 (PubMed:11230166).Curated1
Sequence conflicti977S → P in CAB66645 (PubMed:11230166).Curated1
Sequence conflicti1237D → G in CAI56716 (PubMed:17974005).Curated1
Sequence conflicti1418P → R in AAA64834 (PubMed:7836469).Curated1
Sequence conflicti1455D → E in BAG58523 (PubMed:14702039).Curated1
Sequence conflicti1574F → L in AAA64834 (PubMed:7836469).Curated1
Sequence conflicti1685A → R in AAA64834 (PubMed:7836469).Curated1
Sequence conflicti1726P → A in AAA64834 (PubMed:7836469).Curated1
Sequence conflicti2062 – 2063ER → GG in AAA64834 (PubMed:7836469).Curated2
Sequence conflicti2146S → T in AAA64834 (PubMed:7836469).Curated1
Sequence conflicti3919H → P in AAA64834 (PubMed:7836469).Curated1
Sequence conflicti4137L → F in CAB66645 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077912968D → H Found in a patient with Gillessen-Kaesbach-Nishimura syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882195EnsemblClinVar.1
Natural variantiVAR_0687021569S → A Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375050420EnsemblClinVar.1
Natural variantiVAR_0610132318K → R. Corresponds to variant dbSNP:rs59021407EnsemblClinVar.1
Natural variantiVAR_0591152885H → Q. Corresponds to variant dbSNP:rs11599164EnsemblClinVar.1
Natural variantiVAR_0610142996Q → H. Corresponds to variant dbSNP:rs41274672EnsemblClinVar.1
Natural variantiVAR_0591163117I → V. Corresponds to variant dbSNP:rs28932171EnsemblClinVar.1
Natural variantiVAR_0591173123K → R. Corresponds to variant dbSNP:rs10821668EnsemblClinVar.1
Natural variantiVAR_0687033720T → M Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201547988Ensembl.1
Natural variantiVAR_0687044255T → P Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs769573528Ensembl.1
Natural variantiVAR_0543334257I → V. Corresponds to variant dbSNP:rs12261793EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0468851 – 866Missing in isoform 4. 1 PublicationAdd BLAST866
Alternative sequenceiVSP_0443481 – 37MAHAA…RDRKK → MASSASSSPAGTEDSAPAQG GFGSDYSRSSR in isoform 3. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_0443491 – 36MAHAA…SRDRK → MSEEPKEKNAKPAHRKRKG in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_0537531 – 6MAHAAS → MNLRCD in isoform 5. 1 Publication6
Alternative sequenceiVSP_0537547 – 385Missing in isoform 5. 1 PublicationAdd BLAST379
Alternative sequenceiVSP_053755850 – 870Missing in isoform 5. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_046886867 – 872SDVEEG → MALPQS in isoform 4. 1 Publication6
Alternative sequenceiVSP_044350872G → GNRCTWYKIPKVQEFTVKS in isoform 2. 1 Publication1
Alternative sequenceiVSP_053756913 – 918Missing in isoform 5. 1 Publication6
Alternative sequenceiVSP_0537571036 – 1043MVEGEGLA → HGERRGIS in isoform 5. 1 Publication8
Alternative sequenceiVSP_0443511442 – 1450Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 4 Publications9
Alternative sequenceiVSP_0443521478 – 4081Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST2604
Alternative sequenceiVSP_0537581478 – 1880IERST…VKSSL → TSCTVKVRKSQLKEVCKHSI EYFKGISGETLKLVDRLSEE EKKMQSELSDEEESTSRNTS LSETSRGGQPSVTTKSARDK KTEAAPLKSKSEKAGSEKRS SRRTGPQSPCERTDIRMAIV ADHLGLSWTELARELNFSVD EINQIRVENPNSLISQSFML LKKWVTRDGKNATTDALTSV LTKINRIDIVTLLEGPIFDY GNISGTRSFADENNVFHDPV DGWQNETSSGNLESCAQARR VTGGLLDRLDDSPDQCRDSI TSYLKGEAGKFEANGSHTEI TPEAKTKSYFPESQNDVGKQ STKETLKPKIHGSGHVEEPA SPLAAYQKSLEETSKLSKLI IEETKPCVPVSMKKMSRTSP ADGKPRLSLHEEEGSSGSEQ KQGEGFKVKTKKEIRHVEKK SHS in isoform 5. 1 PublicationAdd BLAST403
Alternative sequenceiVSP_0537591881 – 4377Missing in isoform 5. 1 PublicationAdd BLAST2497
Alternative sequenceiVSP_0443534082G → S in isoform 2, isoform 3 and isoform 4. 3 Publications1
Alternative sequenceiVSP_0443544199G → GYPSLQVELETPTGLHYTPP TPFQQDDYFSDISSIESPLR TPSRLSDGLVPSQGNIEHSA DGPPVVTAEDASLEDSKLED SVPLTEMPEAVDVDESQLEN VCLS in isoform 2, isoform 3 and isoform 4. 3 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13616 mRNA Translation: AAA64834.1
U43965 mRNA Translation: AAB08437.1
AL136710 mRNA Translation: CAB66645.1 Frameshift.
AK295661 mRNA Translation: BAG58523.1
BX537917 mRNA Translation: CAD97900.2
BX648574 mRNA Translation: CAI56716.1
AC022390 Genomic DNA No translation available.
AC023904 Genomic DNA No translation available.
AL359267 Genomic DNA No translation available.
AL359377 Genomic DNA No translation available.
AL391707 Genomic DNA No translation available.
AL592430 Genomic DNA No translation available.
AL607065 Genomic DNA No translation available.
CCDSiCCDS55711.1 [Q12955-4]
CCDS55712.1 [Q12955-5]
CCDS7258.1 [Q12955-3]
CCDS7259.1 [Q12955-6]
PIRiA55575
RefSeqiNP_001140.2, NM_001149.3 [Q12955-6]
NP_001191332.1, NM_001204403.1 [Q12955-5]
NP_001191333.1, NM_001204404.1 [Q12955-4]
NP_066267.2, NM_020987.4 [Q12955-3]
UniGeneiHs.499725
Hs.690023
Hs.731403
Hs.740100

Genome annotation databases

EnsembliENST00000280772; ENSP00000280772; ENSG00000151150 [Q12955-3]
ENST00000355288; ENSP00000347436; ENSG00000151150 [Q12955-6]
ENST00000373827; ENSP00000362933; ENSG00000151150 [Q12955-5]
ENST00000503366; ENSP00000425236; ENSG00000151150 [Q12955-4]
GeneIDi288
KEGGihsa:288
UCSCiuc001jkw.4 human [Q12955-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Ankyrin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13616 mRNA Translation: AAA64834.1
U43965 mRNA Translation: AAB08437.1
AL136710 mRNA Translation: CAB66645.1 Frameshift.
AK295661 mRNA Translation: BAG58523.1
BX537917 mRNA Translation: CAD97900.2
BX648574 mRNA Translation: CAI56716.1
AC022390 Genomic DNA No translation available.
AC023904 Genomic DNA No translation available.
AL359267 Genomic DNA No translation available.
AL359377 Genomic DNA No translation available.
AL391707 Genomic DNA No translation available.
AL592430 Genomic DNA No translation available.
AL607065 Genomic DNA No translation available.
CCDSiCCDS55711.1 [Q12955-4]
CCDS55712.1 [Q12955-5]
CCDS7258.1 [Q12955-3]
CCDS7259.1 [Q12955-6]
PIRiA55575
RefSeqiNP_001140.2, NM_001149.3 [Q12955-6]
NP_001191332.1, NM_001204403.1 [Q12955-5]
NP_001191333.1, NM_001204404.1 [Q12955-4]
NP_066267.2, NM_020987.4 [Q12955-3]
UniGeneiHs.499725
Hs.690023
Hs.731403
Hs.740100

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4O6XX-ray2.10A/B4088-4199[»]
ProteinModelPortaliQ12955
SMRiQ12955
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106785, 43 interactors
CORUMiQ12955
DIPiDIP-49017N
ELMiQ12955
IntActiQ12955, 20 interactors
MINTiQ12955
STRINGi9606.ENSP00000280772

PTM databases

iPTMnetiQ12955
PhosphoSitePlusiQ12955
SwissPalmiQ12955

Polymorphism and mutation databases

BioMutaiANK3
DMDMi257051061

Proteomic databases

EPDiQ12955
MaxQBiQ12955
PaxDbiQ12955
PeptideAtlasiQ12955
PRIDEiQ12955
ProteomicsDBi59048

Protocols and materials databases

DNASUi288
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280772; ENSP00000280772; ENSG00000151150 [Q12955-3]
ENST00000355288; ENSP00000347436; ENSG00000151150 [Q12955-6]
ENST00000373827; ENSP00000362933; ENSG00000151150 [Q12955-5]
ENST00000503366; ENSP00000425236; ENSG00000151150 [Q12955-4]
GeneIDi288
KEGGihsa:288
UCSCiuc001jkw.4 human [Q12955-3]

Organism-specific databases

CTDi288
DisGeNETi288
EuPathDBiHostDB:ENSG00000151150.20
GeneCardsiANK3
H-InvDBiHIX0008849
HGNCiHGNC:494 ANK3
HPAiCAB013249
CAB015179
HPA038455
HPA055643
MalaCardsiANK3
MIMi600465 gene
615493 phenotype
neXtProtiNX_Q12955
OpenTargetsiENSG00000151150
Orphaneti356996 Intellectual disability - hypotonia - spasticity - sleep disorder
3140 Schizophrenia
PharmGKBiPA24800
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4177 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00840000129677
HOGENOMiHOG000012873
HOVERGENiHBG072717
InParanoidiQ12955
KOiK10380
OMAiDQSITEC
OrthoDBiEOG091G00GN
PhylomeDBiQ12955
TreeFamiTF351263

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-6807878 COPI-mediated anterograde transport

Miscellaneous databases

ChiTaRSiANK3 human
GeneWikiiANK3
GenomeRNAii288
PROiPR:Q12955
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000151150 Expressed in 234 organ(s), highest expression level in substantia nigra
CleanExiHS_ANK3
ExpressionAtlasiQ12955 baseline and differential
GenevisibleiQ12955 HS

Family and domain databases

CDDicd00204 ANK, 7 hits
cd08803 Death_ank3, 1 hit
Gene3Di1.25.40.20, 3 hits
InterProiView protein in InterPro
IPR037971 Ank3_Death
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
IPR000906 ZU5_dom
PfamiView protein in Pfam
PF12796 Ank_2, 7 hits
PF13606 Ank_3, 1 hit
PF00531 Death, 1 hit
PF00791 ZU5, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 22 hits
SM00005 DEATH, 1 hit
SM00218 ZU5, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
SSF48403 SSF48403, 3 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 21 hits
PS50017 DEATH_DOMAIN, 1 hit
PS51145 ZU5, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiANK3_HUMAN
AccessioniPrimary (citable) accession number: Q12955
Secondary accession number(s): B1AQT2
, B4DIL1, E9PE32, Q13484, Q5CZH9, Q5VXD5, Q7Z3G4, Q9H0P5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2002
Last sequence update: September 1, 2009
Last modified: October 10, 2018
This is version 182 of the entry and version 3 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, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 10
    Human chromosome 10: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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