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Q12955

- ANK3_HUMAN

UniProt

Q12955 - ANK3_HUMAN

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Protein
Ankyrin-3
Gene
ANK3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.1 Publication
Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.1 Publication

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. Golgi to plasma membrane protein transport Source: BHF-UCL
  2. axon guidance Source: Ensembl
  3. axonogenesis Source: BHF-UCL
  4. cytoskeletal anchoring at plasma membrane Source: ProtInc
  5. establishment of protein localization Source: UniProtKB
  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
Complete GO annotation...

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. Cell projectionaxon By similarity. Cell membranesarcolemma. Cell junctionsynapsepostsynaptic cell membrane By similarity. Lysosome By similarity
Note: In skeletal muscle, localized at costameres and neuromuscular junctions By similarity. In macrophages, associated with lysosomes By similarity.2 Publications
Isoform 5 : Cytoplasmcytoskeleton. Golgi apparatus 2 Publications

GO - Cellular componenti

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

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 (1 Publication).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-3
PRO_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.2 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.

Family & Domainsi

Domains and Repeats

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

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1273 – 1407135UPA domain By similarity
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1519 – 1898380Ser-rich
Add
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-rich
Add
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.

Sequence similaritiesi

Contains 23 ANK repeats.
Contains 1 death domain.
Contains 2 ZU5 domains.

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

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.
VSP_046885Add
BLAST
Alternative sequencei1 – 3737MAHAA…RDRKK → MASSASSSPAGTEDSAPAQG GFGSDYSRSSR in isoform 3.
VSP_044348Add
BLAST
Alternative sequencei1 – 3636MAHAA…SRDRK → MSEEPKEKNAKPAHRKRKG in isoform 2.
VSP_044349Add
BLAST
Alternative sequencei1 – 66MAHAAS → MNLRCD in isoform 5.
VSP_053753
Alternative sequencei7 – 385379Missing in isoform 5.
VSP_053754Add
BLAST
Alternative sequencei850 – 87021Missing in isoform 5.
VSP_053755Add
BLAST
Alternative sequencei867 – 8726SDVEEG → MALPQS in isoform 4.
VSP_046886
Alternative sequencei872 – 8721G → GNRCTWYKIPKVQEFTVKS in isoform 2.
VSP_044350
Alternative sequencei913 – 9186Missing in isoform 5.
VSP_053756
Alternative sequencei1036 – 10438MVEGEGLA → HGERRGIS in isoform 5.
VSP_053757
Alternative sequencei1442 – 14509Missing in isoform 2, isoform 3, isoform 4 and isoform 5.
VSP_044351
Alternative sequencei1478 – 40812604Missing in isoform 2, isoform 3 and isoform 4.
VSP_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.
VSP_053758Add
BLAST
Alternative sequencei1881 – 43772497Missing in isoform 5.
VSP_053759Add
BLAST
Alternative sequencei4082 – 40821G → S in isoform 2, isoform 3 and isoform 4.
VSP_044353
Alternative sequencei4199 – 41991G → GYPSLQVELETPTGLHYTPP TPFQQDDYFSDISSIESPLR TPSRLSDGLVPSQGNIEHSA DGPPVVTAEDASLEDSKLED SVPLTEMPEAVDVDESQLEN VCLS in isoform 2, isoform 3 and isoform 4.
VSP_044354

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti197 – 1971T → A in CAI56716. 1 Publication
Sequence conflicti222 – 2221L → P in CAD97900. 1 Publication
Sequence conflicti327 – 3271I → V in CAD97900. 1 Publication
Sequence conflicti338 – 3381L → W in BAG58523. 1 Publication
Sequence conflicti523 – 5231A → T in CAD97900. 1 Publication
Sequence conflicti578 – 5781L → P in CAI56716. 1 Publication
Sequence conflicti921 – 9211R → G in CAB66645. 1 Publication
Sequence conflicti977 – 9771S → P in CAB66645. 1 Publication
Sequence conflicti1237 – 12371D → G in CAI56716. 1 Publication
Sequence conflicti1418 – 14181P → R in AAA64834. 1 Publication
Sequence conflicti1455 – 14551D → E in BAG58523. 1 Publication
Sequence conflicti1574 – 15741F → L in AAA64834. 1 Publication
Sequence conflicti1685 – 16851A → R in AAA64834. 1 Publication
Sequence conflicti1726 – 17261P → A in AAA64834. 1 Publication
Sequence conflicti2062 – 20632ER → GG in AAA64834. 1 Publication
Sequence conflicti2146 – 21461S → T in AAA64834. 1 Publication
Sequence conflicti3919 – 39191H → P in AAA64834. 1 Publication
Sequence conflicti4137 – 41371L → F in CAB66645. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 139 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

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