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Q12955

- ANK3_HUMAN

UniProt

Q12955 - ANK3_HUMAN

Protein

Ankyrin-3

Gene

ANK3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 3 (01 Sep 2009)
      Previous versions | rss
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    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.By similarity
    Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.

    GO - Molecular functioni

    1. cadherin binding Source: BHF-UCL
    2. cytoskeletal protein binding Source: BHF-UCL
    3. ion channel binding Source: BHF-UCL
    4. protein binding Source: UniProtKB
    5. protein binding, bridging Source: BHF-UCL
    6. spectrin binding Source: BHF-UCL
    7. structural constituent of cytoskeleton Source: BHF-UCL

    GO - Biological processi

    1. axon guidance Source: Ensembl
    2. axonogenesis Source: BHF-UCL
    3. cytoskeletal anchoring at plasma membrane Source: ProtInc
    4. establishment of protein localization Source: UniProtKB
    5. Golgi to plasma membrane protein transport Source: BHF-UCL
    6. maintenance of protein location in plasma membrane Source: BHF-UCL
    7. membrane assembly Source: BHF-UCL
    8. mitotic cytokinesis Source: BHF-UCL
    9. neuromuscular junction development Source: Ensembl
    10. neuronal action potential Source: BHF-UCL
    11. plasma membrane organization Source: BHF-UCL
    12. positive regulation of cell communication by electrical coupling Source: Ensembl
    13. positive regulation of gene expression Source: BHF-UCL
    14. positive regulation of homotypic cell-cell adhesion Source: Ensembl
    15. positive regulation of membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
    16. positive regulation of membrane potential Source: BHF-UCL
    17. positive regulation of protein targeting to membrane Source: Ensembl
    18. positive regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
    19. positive regulation of sodium ion transport Source: BHF-UCL
    20. protein localization to plasma membrane Source: BHF-UCL
    21. protein targeting to plasma membrane Source: BHF-UCL
    22. regulation of potassium ion transport Source: BHF-UCL
    23. signal transduction Source: InterPro

    Enzyme and pathway databases

    ReactomeiREACT_22266. Interaction between L1 and Ankyrins.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ankyrin-3
    Short name:
    ANK-3
    Alternative name(s):
    Ankyrin-G
    Gene namesi
    Name:ANK3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:494. ANK3.

    Subcellular locationi

    Cytoplasmcytoskeleton 1 Publication. Cell projectionaxon By similarity. Cell membranesarcolemma 1 Publication. Cell junctionsynapsepostsynaptic cell membrane By similarity. Lysosome By similarity
    Note: In skeletal muscle, localized at costameres and neuromuscular junctions. In macrophages, associated with lysosomes.By similarity
    Isoform 5 : Cytoplasmcytoskeleton 1 Publication. Golgi apparatus 1 Publication

    GO - Cellular componenti

    1. axon initial segment Source: BHF-UCL
    2. basolateral plasma membrane Source: UniProtKB
    3. cell surface Source: BHF-UCL
    4. costamere Source: BHF-UCL
    5. dendrite Source: Ensembl
    6. endoplasmic reticulum Source: ProtInc
    7. Golgi apparatus Source: ProtInc
    8. intercalated disc Source: BHF-UCL
    9. lateral plasma membrane Source: BHF-UCL
    10. lysosome Source: UniProtKB-SubCell
    11. neuromuscular junction Source: Ensembl
    12. node of Ranvier Source: BHF-UCL
    13. paranode region of axon Source: Ensembl
    14. plasma membrane Source: BHF-UCL
    15. postsynaptic membrane Source: UniProtKB-SubCell
    16. sarcolemma Source: BHF-UCL
    17. sarcoplasmic reticulum Source: Ensembl
    18. spectrin-associated cytoskeleton Source: BHF-UCL
    19. T-tubule Source: BHF-UCL
    20. Z disc Source: Ensembl

    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.
    Mental retardation, autosomal recessive 37 (MRT37) [MIM:615493]: A 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.
    Note: 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

    Keywords - Diseasei

    Mental retardation

    Organism-specific databases

    MIMi615493. phenotype.
    Orphaneti356996. Intellectual disability - hypotonia - spasticity - sleep disorder.
    3140. Schizophrenia.
    PharmGKBiPA24800.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 43774377Ankyrin-3PRO_0000066886Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei39 – 391Phosphoserine1 Publication
    Modified residuei847 – 8471Phosphoserine1 Publication
    Modified residuei1445 – 14451Phosphoserine1 Publication
    Modified residuei4298 – 42981Phosphoserine1 Publication
    Cross-linki4338 – 4338Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ12955.
    PaxDbiQ12955.
    PRIDEiQ12955.
    ProMEXiQ12955.

    PTM databases

    PhosphoSiteiQ12955.

    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

    ArrayExpressiQ12955.
    BgeeiQ12955.
    CleanExiHS_ANK3.
    GenevestigatoriQ12955.

    Organism-specific databases

    HPAiCAB013249.
    CAB015179.
    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 neurofascin/NRCAM/ankyrin G complex. Interacts with RHBG. Interacts with PLEC and FLNC.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SMAD2Q157962EBI-2691178,EBI-1040141

    Protein-protein interaction databases

    BioGridi106785. 11 interactions.
    DIPiDIP-49017N.
    IntActiQ12955. 3 interactions.
    STRINGi9606.ENSP00000280772.

    Structurei

    3D structure databases

    ProteinModelPortaliQ12955.
    SMRiQ12955. Positions 14-871, 982-1442, 4090-4167.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati73 – 10230ANK 1Add
    BLAST
    Repeati106 – 13530ANK 2Add
    BLAST
    Repeati139 – 16830ANK 3Add
    BLAST
    Repeati172 – 20130ANK 4Add
    BLAST
    Repeati203 – 23028ANK 5Add
    BLAST
    Repeati234 – 26330ANK 6Add
    BLAST
    Repeati267 – 29630ANK 7Add
    BLAST
    Repeati300 – 32930ANK 8Add
    BLAST
    Repeati333 – 36230ANK 9Add
    BLAST
    Repeati366 – 39530ANK 10Add
    BLAST
    Repeati399 – 42830ANK 11Add
    BLAST
    Repeati432 – 46130ANK 12Add
    BLAST
    Repeati465 – 49430ANK 13Add
    BLAST
    Repeati498 – 52730ANK 14Add
    BLAST
    Repeati531 – 56030ANK 15Add
    BLAST
    Repeati564 – 59330ANK 16Add
    BLAST
    Repeati597 – 62630ANK 17Add
    BLAST
    Repeati630 – 65930ANK 18Add
    BLAST
    Repeati663 – 69230ANK 19Add
    BLAST
    Repeati696 – 72530ANK 20Add
    BLAST
    Repeati729 – 75830ANK 21Add
    BLAST
    Repeati762 – 79130ANK 22Add
    BLAST
    Repeati795 – 82531ANK 23Add
    BLAST
    Domaini982 – 1107126ZU5 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1108 – 1272165ZU5 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini4090 – 417485DeathPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1273 – 1407135UPA domainBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1519 – 1898380Ser-richAdd
    BLAST
    Compositional biasi2247 – 22504Poly-Thr
    Compositional biasi2393 – 23964Poly-Glu
    Compositional biasi3205 – 32117Poly-Glu
    Compositional biasi3255 – 32595Poly-Pro
    Compositional biasi3482 – 34876Poly-Ser
    Compositional biasi3785 – 37917Poly-Asn
    Compositional biasi3957 – 398125Thr-richAdd
    BLAST

    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

    Sequence similaritiesi

    Contains 23 ANK repeats.PROSITE-ProRule annotation
    Contains 1 death domain.PROSITE-ProRule annotation
    Contains 2 ZU5 domains.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG0666.
    HOGENOMiHOG000012873.
    HOVERGENiHBG024337.
    InParanoidiQ12955.
    KOiK10380.
    OMAiSYEFTSK.
    OrthoDBiEOG7P02H2.
    PhylomeDBiQ12955.
    TreeFamiTF351263.

    Family and domain databases

    Gene3Di1.10.533.10. 1 hit.
    1.25.40.20. 3 hits.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR011029. DEATH-like_dom.
    IPR000488. Death_domain.
    IPR000906. ZU5.
    [Graphical view]
    PfamiPF00023. Ank. 3 hits.
    PF12796. Ank_2. 6 hits.
    PF00531. Death. 1 hit.
    PF00791. ZU5. 1 hit.
    [Graphical view]
    PRINTSiPR01415. ANKYRIN.
    SMARTiSM00248. ANK. 22 hits.
    SM00005. DEATH. 1 hit.
    SM00218. ZU5. 1 hit.
    [Graphical view]
    SUPFAMiSSF47986. SSF47986. 1 hit.
    SSF48403. SSF48403. 3 hits.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 21 hits.
    PS50017. DEATH_DOMAIN. 1 hit.
    PS51145. ZU5. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    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

    MAHAASQLKK NRDLEINAEE EPEKKRKHRK RSRDRKKKSD ANASYLRAAR     50
    AGHLEKALDY IKNGVDINIC NQNGLNALHL ASKEGHVEVV SELLQREANV 100
    DAATKKGNTA LHIASLAGQA EVVKVLVTNG ANVNAQSQNG FTPLYMAAQE 150
    NHLEVVKFLL DNGASQSLAT EDGFTPLAVA LQQGHDQVVS LLLENDTKGK 200
    VRLPALHIAA RKDDTKAAAL LLQNDNNADV ESKSGFTPLH IAAHYGNINV 250
    ATLLLNRAAA VDFTARNDIT PLHVASKRGN ANMVKLLLDR GAKIDAKTRD 300
    GLTPLHCGAR SGHEQVVEML LDRAAPILSK TKNGLSPLHM ATQGDHLNCV 350
    QLLLQHNVPV DDVTNDYLTA LHVAAHCGHY KVAKVLLDKK ANPNAKALNG 400
    FTPLHIACKK NRIKVMELLL KHGASIQAVT ESGLTPIHVA AFMGHVNIVS 450
    QLMHHGASPN TTNVRGETAL HMAARSGQAE VVRYLVQDGA QVEAKAKDDQ 500
    TPLHISARLG KADIVQQLLQ QGASPNAATT SGYTPLHLSA REGHEDVAAF 550
    LLDHGASLSI TTKKGFTPLH VAAKYGKLEV ANLLLQKSAS PDAAGKSGLT 600
    PLHVAAHYDN QKVALLLLDQ GASPHAAAKN GYTPLHIAAK KNQMDIATTL 650
    LEYGADANAV TRQGIASVHL AAQEGHVDMV SLLLGRNANV NLSNKSGLTP 700
    LHLAAQEDRV NVAEVLVNQG AHVDAQTKMG YTPLHVGCHY GNIKIVNFLL 750
    QHSAKVNAKT KNGYTPLHQA AQQGHTHIIN VLLQNNASPN ELTVNGNTAL 800
    GIARRLGYIS VVDTLKIVTE ETMTTTTVTE KHKMNVPETM NEVLDMSDDE 850
    VRKANAPEML SDGEYISDVE EGEDAMTGDT DKYLGPQDLK ELGDDSLPAE 900
    GYMGFSLGAR SASLRSFSSD RSYTLNRSSY ARDSMMIEEL LVPSKEQHLT 950
    FTREFDSDSL RHYSWAADTL DNVNLVSSPI HSGFLVSFMV DARGGSMRGS 1000
    RHHGMRIIIP PRKCTAPTRI TCRLVKRHKL ANPPPMVEGE GLASRLVEMG 1050
    PAGAQFLGPV IVEIPHFGSM RGKERELIVL RSENGETWKE HQFDSKNEDL 1100
    TELLNGMDEE LDSPEELGKK RICRIITKDF PQYFAVVSRI KQESNQIGPE 1150
    GGILSSTTVP LVQASFPEGA LTKRIRVGLQ AQPVPDEIVK KILGNKATFS 1200
    PIVTVEPRRR KFHKPITMTI PVPPPSGEGV SNGYKGDTTP NLRLLCSITG 1250
    GTSPAQWEDI TGTTPLTFIK DCVSFTTNVS ARFWLADCHQ VLETVGLATQ 1300
    LYRELICVPY MAKFVVFAKM NDPVESSLRC FCMTDDKVDK TLEQQENFEE 1350
    VARSKDIEVL EGKPIYVDCY GNLAPLTKGG QQLVFNFYSF KENRLPFSIK 1400
    IRDTSQEPCG RLSFLKEPKT TKGLPQTAVC NLNITLPAHK KETESDQDDE 1450
    IEKTDRRQSF ASLALRKRYS YLTEPGMIER STGATRSLPT TYSYKPFFST 1500
    RPYQSWTTAP ITVPGPAKSG FTSLSSSSSN TPSASPLKSI WSVSTPSPIK 1550
    STLGASTTSS VKSISDVASP IRSFRTMSSP IKTVVSQSPY NIQVSSGTLA 1600
    RAPAVTEATP LKGLASNSTF SSRTSPVTTA GSLLERSSIT MTPPASPKSN 1650
    INMYSSSLPF KSIITSAAPL ISSPLKSVVS PVKSAVDVIS SAKITMASSL 1700
    SSPVKQMPGH AEVALVNGSI SPLKYPSSST LINGCKATAT LQEKISSATN 1750
    SVSSVVSAAT DTVEKVFSTT TAMPFSPLRS YVSAAPSAFQ SLRTPSASAL 1800
    YTSLGSSISA TTSSVTSSII TVPVYSVVNV LPEPALKKLP DSNSFTKSAA 1850
    ALLSPIKTLT TETHPQPHFS RTSSPVKSSL FLAPSALKLS TPSSLSSSQE 1900
    ILKDVAEMKE DLMRMTAILQ TDVPEEKPFQ PELPKEGRID DEEPFKIVEK 1950
    VKEDLVKVSE ILKKDVCVDN KGSPKSPKSD KGHSPEDDWI EFSSEEIREA 2000
    RQQAAASQSP SLPERVQVKA KAASEKDYNL TKVIDYLTND IGSSSLTNLK 2050
    YKFEDAKKDG EERQKRVLKP AIALQEHKLK MPPASMRTST SEKELCKMAD 2100
    SFFGTDTILE SPDDFSQHDQ DKSPLSDSGF ETRSEKTPSA PQSAESTGPK 2150
    PLFHEVPIPP VITETRTEVV HVIRSYDPSA GDVPQTQPEE PVSPKPSPTF 2200
    MELEPKPTTS SIKEKVKAFQ MKASSEEDDH NRVLSKGMRV KEETHITTTT 2250
    RMVYHSPPGG EGASERIEET MSVHDIMKAF QSGRDPSKEL AGLFEHKSAV 2300
    SPDVHKSAAE TSAQHAEKDN QMKPKLERII EVHIEKGNQA EPTEVIIRET 2350
    KKHPEKEMYV YQKDLSRGDI NLKDFLPEKH DAFPCSEEQG QQEEEELTAE 2400
    ESLPSYLESS RVNTPVSQEE DSRPSSAQLI SDDSYKTLKL LSQHSIEYHD 2450
    DELSELRGES YRFAEKMLLS EKLDVSHSDT EESVTDHAGP PSSELQGSDK 2500
    RSREKIATAP KKEILSKIYK DVSENGVGKV SKDEHFDKVT VLHYSGNVSS 2550
    PKHAMWMRFT EDRLDRGREK LIYEDRVDRT VKEAEEKLTE VSQFFRDKTE 2600
    KLNDELQSPE KKARPKNGKE YSSQSPTSSS PEKVLLTELL ASNDEWVKAR 2650
    QHGPDGQGFP KAEEKAPSLP SSPEKMVLSQ QTEDSKSTVE AKGSISQSKA 2700
    PDGPQSGFQL KQSKLSSIRL KFEQGTHAKS KDMSQEDRKS DGQSRIPVKK 2750
    IQESKLPVYQ VFAREKQQKA IDLPDESVSV QKDFMVLKTK DEHAQSNEIV 2800
    VNDSGSDNVK KQRTEMSSKA MPDSFSEQQA KDLACHITSD LATRGPWDKK 2850
    VFRTWESSGA TNNKSQKEKL SHVLVHDVRE NHIGHPESKS VDQKNEFMSV 2900
    TERERKLLTN GSLSEIKEMT VKSPSKKVLY REYVVKEGDH PGGLLDQPSR 2950
    RSESSAVSHI PVRVADERRM LSSNIPDGFC EQSAFPKHEL SQKLSQSSMS 3000
    KETVETQHFN SIEDEKVTYS EISKVSKHQS YVGLCPPLEE TETSPTKSPD 3050
    SLEFSPGKES PSSDVFDHSP IDGLEKLAPL AQTEGGKEIK TLPVYVSFVQ 3100
    VGKQYEKEIQ QGGVKKIISQ ECKTVQETRG TFYTTRQQKQ PPSPQGSPED 3150
    DTLEQVSFLD SSGKSPLTPE TPSSEEVSYE FTSKTPDSLI AYIPGKPSPI 3200
    PEVSEESEEE EQAKSTSLKQ TTVEETAVER EMPNDVSKDS NQRPKNNRVA 3250
    YIEFPPPPPL DADQIESDKK HHYLPEKEVD MIEVNLQDEH DKYQLAEPVI 3300
    RVQPPSPVPP GADVSDSSDD ESIYQPVPVK KYTFKLKEVD DEQKEKPKAS 3350
    AEKASNQKEL ESNGSGKDNE FGLGLDSPQN EIAQNGNNDQ SITECSIATT 3400
    AEFSHDTDAT EIDSLDGYDL QDEDDGLTES DSKLPIQAME IKKDIWNTEG 3450
    ILKPADRSFS QSKLEVIEEE GKVGPDEDKP PSKSSSSEKT PDKTDQKSGA 3500
    QFFTLEGRHP DRSVFPDTYF SYKVDEEFAT PFKTVATKGL DFDPWSNNRG 3550
    DDEVFDSKSR EDETKPFGLA VEDRSPATTP DTTPARTPTD ESTPTSEPNP 3600
    FPFHEGKMFE MTRSGAIDMS KRDFVEERLQ FFQIGEHTSE GKSGDQGEGD 3650
    KSMVTATPQP QSGDTTVETN LERNVETPTV EPNPSIPTSG ECQEGTSSSG 3700
    SLEKSAAATN TSKVDPKLRT PIKMGISAST MTMKKEGPGE ITDKIEAVMT 3750
    SCQGLENETI TMISNTANSQ MGVRPHEKHD FQKDNFNNNN NLDSSTIQTD 3800
    NIMSNIVLTE HSAPTCTTEK DNPVKVSSGK KTGVLQGHCV RDKQKVLGEQ 3850
    QKTKELIGIR QKSKLPIKAT SPKDTFPPNH MSNTKASKMK QVSQSEKTKA 3900
    LTTSSCVDVK SRIPVKNTHR DNIIAVRKAC ATQKQGQPEK GKAKQLPSKL 3950
    PVKVRSTCVT TTTTTATTTT TTTTTTTTSC TVKVRKSQLK EVCKHSIEYF 4000
    KGISGETLKL VDRLSEEEKK MQSELSDEEE STSRNTSLSE TSRGGQPSVT 4050
    TKSARDKKTE AAPLKSKSEK AGSEKRSSRR TGPQSPCERT DIRMAIVADH 4100
    LGLSWTELAR ELNFSVDEIN QIRVENPNSL ISQSFMLLKK WVTRDGKNAT 4150
    TDALTSVLTK INRIDIVTLL EGPIFDYGNI SGTRSFADEN NVFHDPVDGW 4200
    QNETSSGNLE SCAQARRVTG GLLDRLDDSP DQCRDSITSY LKGEAGKFEA 4250
    NGSHTEITPE AKTKSYFPES QNDVGKQSTK ETLKPKIHGS GHVEEPASPL 4300
    AAYQKSLEET SKLIIEETKP CVPVSMKKMS RTSPADGKPR LSLHEEEGSS 4350
    GSEQKQGEGF KVKTKKEIRH VEKKSHS 4377
    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: Ref.3 (CAB66645) sequence(s) differ(s) from that shown due to (a) frameshift(s) in position(s) 810.

    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.

    Show »
    Length:1,465
    Mass (Da):160,947
    Checksum:i7B43551F7DB9691D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti197 – 1971T → A in CAI56716. (PubMed:17974005)Curated
    Sequence conflicti222 – 2221L → P in CAD97900. (PubMed:17974005)Curated
    Sequence conflicti327 – 3271I → V in CAD97900. (PubMed:17974005)Curated
    Sequence conflicti338 – 3381L → W in BAG58523. (PubMed:14702039)Curated
    Sequence conflicti523 – 5231A → T in CAD97900. (PubMed:17974005)Curated
    Sequence conflicti578 – 5781L → P in CAI56716. (PubMed:17974005)Curated
    Sequence conflicti921 – 9211R → G in CAB66645. (PubMed:11230166)Curated
    Sequence conflicti977 – 9771S → P in CAB66645. (PubMed:11230166)Curated
    Sequence conflicti1237 – 12371D → G in CAI56716. (PubMed:17974005)Curated
    Sequence conflicti1418 – 14181P → R in AAA64834. (PubMed:7836469)Curated
    Sequence conflicti1455 – 14551D → E in BAG58523. (PubMed:14702039)Curated
    Sequence conflicti1574 – 15741F → L in AAA64834. (PubMed:7836469)Curated
    Sequence conflicti1685 – 16851A → R in AAA64834. (PubMed:7836469)Curated
    Sequence conflicti1726 – 17261P → A in AAA64834. (PubMed:7836469)Curated
    Sequence conflicti2062 – 20632ER → GG in AAA64834. (PubMed:7836469)Curated
    Sequence conflicti2146 – 21461S → T in AAA64834. (PubMed:7836469)Curated
    Sequence conflicti3919 – 39191H → P in AAA64834. (PubMed:7836469)Curated
    Sequence conflicti4137 – 41371L → F in CAB66645. (PubMed:11230166)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1569 – 15691S → A Found in a patient with autism; unknown pathological significance. 1 Publication
    VAR_068702
    Natural varianti2318 – 23181K → R.
    Corresponds to variant rs59021407 [ dbSNP | Ensembl ].
    VAR_061013
    Natural varianti2885 – 28851H → Q.
    Corresponds to variant rs11599164 [ dbSNP | Ensembl ].
    VAR_059115
    Natural varianti2996 – 29961Q → H.
    Corresponds to variant rs41274672 [ dbSNP | Ensembl ].
    VAR_061014
    Natural varianti3117 – 31171I → V.
    Corresponds to variant rs28932171 [ dbSNP | Ensembl ].
    VAR_059116
    Natural varianti3123 – 31231K → R.
    Corresponds to variant rs10821668 [ dbSNP | Ensembl ].
    VAR_059117
    Natural varianti3720 – 37201T → M Found in a patient with autism; unknown pathological significance. 1 Publication
    VAR_068703
    Natural varianti4255 – 42551T → P Found in a patient with autism; unknown pathological significance. 1 Publication
    VAR_068704
    Natural varianti4257 – 42571I → V.
    Corresponds to variant rs12261793 [ dbSNP | Ensembl ].
    VAR_054333

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 866866Missing in isoform 4. 1 PublicationVSP_046885Add
    BLAST
    Alternative sequencei1 – 3737MAHAA…RDRKK → MASSASSSPAGTEDSAPAQG GFGSDYSRSSR in isoform 3. 1 PublicationVSP_044348Add
    BLAST
    Alternative sequencei1 – 3636MAHAA…SRDRK → MSEEPKEKNAKPAHRKRKG in isoform 2. 1 PublicationVSP_044349Add
    BLAST
    Alternative sequencei1 – 66MAHAAS → MNLRCD in isoform 5. 1 PublicationVSP_053753
    Alternative sequencei7 – 385379Missing in isoform 5. 1 PublicationVSP_053754Add
    BLAST
    Alternative sequencei850 – 87021Missing in isoform 5. 1 PublicationVSP_053755Add
    BLAST
    Alternative sequencei867 – 8726SDVEEG → MALPQS in isoform 4. 1 PublicationVSP_046886
    Alternative sequencei872 – 8721G → GNRCTWYKIPKVQEFTVKS in isoform 2. 1 PublicationVSP_044350
    Alternative sequencei913 – 9186Missing in isoform 5. 1 PublicationVSP_053756
    Alternative sequencei1036 – 10438MVEGEGLA → HGERRGIS in isoform 5. 1 PublicationVSP_053757
    Alternative sequencei1442 – 14509Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 4 PublicationsVSP_044351
    Alternative sequencei1478 – 40812604Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_044352Add
    BLAST
    Alternative sequencei1478 – 1880403IERST…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 PublicationVSP_053758Add
    BLAST
    Alternative sequencei1881 – 43772497Missing in isoform 5. 1 PublicationVSP_053759Add
    BLAST
    Alternative sequencei4082 – 40821G → S in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_044353
    Alternative sequencei4199 – 41991G → GYPSLQVELETPTGLHYTPP TPFQQDDYFSDISSIESPLR TPSRLSDGLVPSQGNIEHSA DGPPVVTAEDASLEDSKLED SVPLTEMPEAVDVDESQLEN VCLS in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_044354

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_020987.3. [Q12955-3]
    UniGeneiHs.499725.

    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.
    UCSCiuc001jky.3. human. [Q12955-3]
    uc001jkz.4. human. [Q12955-5]
    uc010qih.2. human. [Q12955-4]

    Polymorphism databases

    DMDMi257051061.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Ankyrin entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS55711.1. [Q12955-4 ]
    CCDS55712.1. [Q12955-5 ]
    CCDS7258.1. [Q12955-3 ]
    CCDS7259.1. [Q12955-6 ]
    PIRi A55575.
    RefSeqi NP_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_020987.3. [Q12955-3 ]
    UniGenei Hs.499725.

    3D structure databases

    ProteinModelPortali Q12955.
    SMRi Q12955. Positions 14-871, 982-1442, 4090-4167.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106785. 11 interactions.
    DIPi DIP-49017N.
    IntActi Q12955. 3 interactions.
    STRINGi 9606.ENSP00000280772.

    PTM databases

    PhosphoSitei Q12955.

    Polymorphism databases

    DMDMi 257051061.

    Proteomic databases

    MaxQBi Q12955.
    PaxDbi Q12955.
    PRIDEi Q12955.
    ProMEXi Q12955.

    Protocols and materials databases

    DNASUi 288.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000280772 ; ENSP00000280772 ; ENSG00000151150 . [Q12955-3 ]
    ENST00000355288 ; ENSP00000347436 ; ENSG00000151150 . [Q12955-6 ]
    ENST00000373827 ; ENSP00000362933 ; ENSG00000151150 . [Q12955-5 ]
    ENST00000503366 ; ENSP00000425236 ; ENSG00000151150 . [Q12955-4 ]
    GeneIDi 288.
    KEGGi hsa:288.
    UCSCi uc001jky.3. human. [Q12955-3 ]
    uc001jkz.4. human. [Q12955-5 ]
    uc010qih.2. human. [Q12955-4 ]

    Organism-specific databases

    CTDi 288.
    GeneCardsi GC10M061788.
    H-InvDB HIX0008849.
    HGNCi HGNC:494. ANK3.
    HPAi CAB013249.
    CAB015179.
    HPA055643.
    MIMi 600465. gene.
    615493. phenotype.
    neXtProti NX_Q12955.
    Orphaneti 356996. Intellectual disability - hypotonia - spasticity - sleep disorder.
    3140. Schizophrenia.
    PharmGKBi PA24800.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0666.
    HOGENOMi HOG000012873.
    HOVERGENi HBG024337.
    InParanoidi Q12955.
    KOi K10380.
    OMAi SYEFTSK.
    OrthoDBi EOG7P02H2.
    PhylomeDBi Q12955.
    TreeFami TF351263.

    Enzyme and pathway databases

    Reactomei REACT_22266. Interaction between L1 and Ankyrins.

    Miscellaneous databases

    ChiTaRSi ANK3. human.
    GeneWikii ANK3.
    GenomeRNAii 288.
    NextBioi 1175.
    PROi Q12955.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12955.
    Bgeei Q12955.
    CleanExi HS_ANK3.
    Genevestigatori Q12955.

    Family and domain databases

    Gene3Di 1.10.533.10. 1 hit.
    1.25.40.20. 3 hits.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR011029. DEATH-like_dom.
    IPR000488. Death_domain.
    IPR000906. ZU5.
    [Graphical view ]
    Pfami PF00023. Ank. 3 hits.
    PF12796. Ank_2. 6 hits.
    PF00531. Death. 1 hit.
    PF00791. ZU5. 1 hit.
    [Graphical view ]
    PRINTSi PR01415. ANKYRIN.
    SMARTi SM00248. ANK. 22 hits.
    SM00005. DEATH. 1 hit.
    SM00218. ZU5. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47986. SSF47986. 1 hit.
    SSF48403. SSF48403. 3 hits.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 21 hits.
    PS50017. DEATH_DOMAIN. 1 hit.
    PS51145. ZU5. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "AnkyrinG. A new ankyrin gene with neural-specific isoforms localized at the axonal initial segment and node of Ranvier."
      Kordeli E., Lambert S., Bennett V.
      J. Biol. Chem. 270:2352-2359(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Brain stem.
    2. "Identification of a small cytoplasmic ankyrin (AnkG119) in the kidney and muscle that binds beta I sigma spectrin and associates with the Golgi apparatus."
      Devarajan P., Stabach P.R., Mann A.S., Ardito T., Kashgarian M., Morrow J.S.
      J. Cell Biol. 133:819-830(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), FUNCTION (ISOFORM 5), SUBCELLULAR LOCATION (ISOFORM 5).
      Tissue: Kidney.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Kidney.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Hippocampus.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Cervix and Fetal kidney.
    6. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The ammonium transporter RhBG: requirement of a tyrosine-based signal and ankyrin-G for basolateral targeting and membrane anchorage in polarized kidney epithelial cells."
      Lopez C., Metral S., Eladari D., Drevensek S., Gane P., Chambrey R., Bennett V., Cartron J.-P., Le Van Kim C., Colin Y.
      J. Biol. Chem. 280:8221-8228(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RHBG.
    8. "Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."
      Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.
      Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-4338.
      Tissue: Mammary cancer.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Novel interactions of ankyrins-G at the costameres: the muscle-specific Obscurin/Titin-Binding-related Domain (OTBD) binds plectin and filamin C."
      Maiweilidan Y., Klauza I., Kordeli E.
      Exp. Cell Res. 317:724-736(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PLEC AND FLNC, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    11. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-39; SER-847; SER-1445 AND SER-4298, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility."
      Bi C., Wu J., Jiang T., Liu Q., Cai W., Yu P., Cai T., Zhao M., Jiang Y.H., Sun Z.S.
      Hum. Mutat. 33:1635-1638(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALA-1569; MET-3720 AND PRO-4255, POSSIBLE INVOLMENT IN SUSCEPTIBILITY TO AUTISM.
    13. Cited for: INVOLMENT IN MRT37.

    Entry informationi

    Entry nameiANK3_HUMAN
    AccessioniPrimary (citable) accession number: Q12955
    Secondary accession number(s): B1AQT2
    , B4DIL1, E9PE32, Q13484, Q5CZH9, Q5VXD5, Q7Z3G4, Q9H0P5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2002
    Last sequence update: September 1, 2009
    Last modified: October 1, 2014
    This is version 140 of the entry and version 3 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3