Q12955 (ANK3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 125.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Ankyrin-3 Short name=ANK-3 Alternative name(s): Ankyrin-G | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 4377 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. |
| Subunit structure | 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. Ref.5 |
| Subcellular location | Cytoplasm › cytoskeleton. Cell junction › synapse › postsynaptic 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. |
| Tissue specificity | Expressed in brain, neurons and other tissues. Ref.1 |
| Domain | 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. |
| Involvement in disease | Genetic variations in ANK3 are associated with autism spectrum disorders susceptibility. |
| Sequence similarities | Contains 23 ANK repeats. Contains 1 death domain. Contains 2 ZU5 domains. |
| Sequence caution | The sequence CAH73232.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI40518.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI41373.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q12955-3) 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. | ||||||
| Isoform 2 (identifier: Q12955-4) 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 | ||||||
| Isoform 3 (identifier: Q12955-5) 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 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 4377 | 4377 | Ankyrin-3 | PRO_0000066886 | |||||
Regions | |||||||||
| Repeat | 73 – 102 | 30 | ANK 1 | ||||||
| Repeat | 106 – 135 | 30 | ANK 2 | ||||||
| Repeat | 139 – 168 | 30 | ANK 3 | ||||||
| Repeat | 172 – 201 | 30 | ANK 4 | ||||||
| Repeat | 203 – 230 | 28 | ANK 5 | ||||||
| Repeat | 234 – 263 | 30 | ANK 6 | ||||||
| Repeat | 267 – 296 | 30 | ANK 7 | ||||||
| Repeat | 300 – 329 | 30 | ANK 8 | ||||||
| Repeat | 333 – 362 | 30 | ANK 9 | ||||||
| Repeat | 366 – 395 | 30 | ANK 10 | ||||||
| Repeat | 399 – 428 | 30 | ANK 11 | ||||||
| Repeat | 432 – 461 | 30 | ANK 12 | ||||||
| Repeat | 465 – 494 | 30 | ANK 13 | ||||||
| Repeat | 498 – 527 | 30 | ANK 14 | ||||||
| Repeat | 531 – 560 | 30 | ANK 15 | ||||||
| Repeat | 564 – 593 | 30 | ANK 16 | ||||||
| Repeat | 597 – 626 | 30 | ANK 17 | ||||||
| Repeat | 630 – 659 | 30 | ANK 18 | ||||||
| Repeat | 663 – 692 | 30 | ANK 19 | ||||||
| Repeat | 696 – 725 | 30 | ANK 20 | ||||||
| Repeat | 729 – 758 | 30 | ANK 21 | ||||||
| Repeat | 762 – 791 | 30 | ANK 22 | ||||||
| Repeat | 795 – 825 | 31 | ANK 23 | ||||||
| Domain | 982 – 1107 | 126 | ZU5 1 | ||||||
| Domain | 1108 – 1272 | 165 | ZU5 2 | ||||||
| Domain | 4090 – 4174 | 85 | Death | ||||||
| Region | 1273 – 1407 | 135 | UPA domain By similarity | ||||||
| Compositional bias | 1519 – 1898 | 380 | Ser-rich | ||||||
| Compositional bias | 2247 – 2250 | 4 | Poly-Thr | ||||||
| Compositional bias | 2393 – 2396 | 4 | Poly-Glu | ||||||
| Compositional bias | 3205 – 3211 | 7 | Poly-Glu | ||||||
| Compositional bias | 3255 – 3259 | 5 | Poly-Pro | ||||||
| Compositional bias | 3482 – 3487 | 6 | Poly-Ser | ||||||
| Compositional bias | 3785 – 3791 | 7 | Poly-Asn | ||||||
| Compositional bias | 3957 – 3981 | 25 | Thr-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 39 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 847 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 1445 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 4298 | 1 | Phosphoserine Ref.8 | ||||||
| Cross-link | 4338 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.6 | |||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 37 | 37 | MAHAA…RDRKK → MASSASSSPAGTEDSAPAQG GFGSDYSRSSR in isoform 3. | VSP_044348 | |||||
| Alternative sequence | 1 – 36 | 36 | MAHAA…SRDRK → MSEEPKEKNAKPAHRKRKG in isoform 2. | VSP_044349 | |||||
| Alternative sequence | 872 | 1 | G → GNRCTWYKIPKVQEFTVKS in isoform 2. | VSP_044350 | |||||
| Alternative sequence | 1442 – 1450 | 9 | Missing in isoform 2 and isoform 3. | VSP_044351 | |||||
| Alternative sequence | 1478 – 4081 | 2604 | Missing in isoform 2 and isoform 3. | VSP_044352 | |||||
| Alternative sequence | 4082 | 1 | G → S in isoform 2 and isoform 3. | VSP_044353 | |||||
| Alternative sequence | 4199 | 1 | G → GYPSLQVELETPTGLHYTPP TPFQQDDYFSDISSIESPLR TPSRLSDGLVPSQGNIEHSA DGPPVVTAEDASLEDSKLED SVPLTEMPEAVDVDESQLEN VCLS in isoform 2 and isoform 3. | VSP_044354 | |||||
| Natural variant | 1569 | 1 | S → A Associated with autism susceptibility. Ref.9 | VAR_068702 | |||||
| Natural variant | 2318 | 1 | K → R. Corresponds to variant rs59021407 [ dbSNP | Ensembl ]. | VAR_061013 | |||||
| Natural variant | 2885 | 1 | H → Q. Corresponds to variant rs11599164 [ dbSNP | Ensembl ]. | VAR_059115 | |||||
| Natural variant | 2996 | 1 | Q → H. Corresponds to variant rs41274672 [ dbSNP | Ensembl ]. | VAR_061014 | |||||
| Natural variant | 3117 | 1 | I → V. Corresponds to variant rs28932171 [ dbSNP | Ensembl ]. | VAR_059116 | |||||
| Natural variant | 3123 | 1 | K → R. Corresponds to variant rs10821668 [ dbSNP | Ensembl ]. | VAR_059117 | |||||
| Natural variant | 3720 | 1 | T → M Associated with autism susceptibility. Ref.9 | VAR_068703 | |||||
| Natural variant | 4255 | 1 | T → P Associated with autism susceptibility. Ref.9 | VAR_068704 | |||||
| Natural variant | 4257 | 1 | I → V. Corresponds to variant rs12261793 [ dbSNP | Ensembl ]. | VAR_054333 | |||||
Experimental info | |||||||||
| Sequence conflict | 197 | 1 | T → A in CAI56716. Ref.3 | ||||||
| Sequence conflict | 222 | 1 | L → P in CAD97900. Ref.3 | ||||||
| Sequence conflict | 327 | 1 | I → V in CAD97900. Ref.3 | ||||||
| Sequence conflict | 338 | 1 | L → W in BAG58523. Ref.2 | ||||||
| Sequence conflict | 523 | 1 | A → T in CAD97900. Ref.3 | ||||||
| Sequence conflict | 578 | 1 | L → P in CAI56716. Ref.3 | ||||||
| Sequence conflict | 1036 – 1043 | 8 | MVEGEGLA → HGERRGIS in AAA64834. Ref.1 | ||||||
| Sequence conflict | 1237 | 1 | D → G in CAI56716. Ref.3 | ||||||
| Sequence conflict | 1418 | 1 | P → R in AAA64834. Ref.1 | ||||||
| Sequence conflict | 1455 | 1 | D → E in BAG58523. Ref.2 | ||||||
| Sequence conflict | 1574 | 1 | F → L in AAA64834. Ref.1 | ||||||
| Sequence conflict | 1685 | 1 | A → R in AAA64834. Ref.1 | ||||||
| Sequence conflict | 1726 | 1 | P → A in AAA64834. Ref.1 | ||||||
| Sequence conflict | 2062 – 2063 | 2 | ER → GG in AAA64834. Ref.1 | ||||||
| Sequence conflict | 2146 | 1 | S → T in AAA64834. Ref.1 | ||||||
| Sequence conflict | 3919 | 1 | H → P in AAA64834. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Hippocampus. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Cervix and Fetal kidney. |
| [4] | "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. Rogers J.Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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. |
| [6] | "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, MASS SPECTROMETRY. Tissue: Mammary cancer. |
| [7] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [8] | "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, MASS SPECTROMETRY. |
| [9] | "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, ASSOCIATION WITH AUTISM SUSCEPTIBILITY. |
| + | Additional computationally mapped references. |
Web resources
| Wikipedia Ankyrin entry |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U13616 mRNA. Translation: AAA64834.1. AK295661 mRNA. Translation: BAG58523.1. BX537917 mRNA. Translation: CAD97900.2. BX648574 mRNA. Translation: CAI56716.1. AL359267 AL592430 Genomic DNA. Translation: CAH73232.1. Sequence problems.AL592430 AL359377 Genomic DNA. Translation: CAI40518.1. Sequence problems.AL359377 AL592430 Genomic DNA. Translation: CAI41373.1. Sequence problems. |
| IPI | IPI00921566. |
| PIR | A55575. |
| RefSeq | NP_001191332.1. NM_001204403.1. NP_001191333.1. NM_001204404.1. NP_066267.2. NM_020987.3. |
| UniGene | Hs.499725. |
3D structure databases | |
| ProteinModelPortal | Q12955. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-49017N. |
| IntAct | Q12955. 2 interactions. |
| STRING | 9606.ENSP00000280772. |
PTM databases | |
| PhosphoSite | Q12955. |
Polymorphism databases | |
| DMDM | 257051061. |
Proteomic databases | |
| PaxDb | Q12955. |
| PRIDE | Q12955. |
| ProMEX | Q12955. |
Protocols and materials databases | |
| DNASU | 288. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000280772; ENSP00000280772; ENSG00000151150. ENST00000373827; ENSP00000362933; ENSG00000151150. ENST00000503366; ENSP00000425236; ENSG00000151150. |
| GeneID | 288. |
| KEGG | hsa:288. |
| UCSC | uc001jky.3. human. uc001jkz.4. human. uc010qih.2. human. |
Organism-specific databases | |
| CTD | 288. |
| GeneCards | GC10M061788. |
| H-InvDB | HIX0008849. |
| HGNC | HGNC:494. ANK3. |
| HPA | CAB015179. |
| MIM | 600465. gene. |
| neXtProt | NX_Q12955. |
| PharmGKB | PA24800. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0666. |
| HOGENOM | HOG000012873. |
| HOVERGEN | HBG024337. |
| InParanoid | Q12955. |
| KO | K10380. |
| OMA | SYEFTSK. |
| PhylomeDB | Q12955. |
Enzyme and pathway databases | |
| Reactome | REACT_111045. Developmental Biology. |
Gene expression databases | |
| ArrayExpress | Q12955. |
| Bgee | Q12955. |
| CleanEx | HS_ANK3. |
| Genevestigator | Q12955. |
| GermOnline | ENSG00000151150. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.533.10. 1 hit. 1.25.40.20. 3 hits. |
| InterPro | IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR011029. DEATH-like_dom. IPR000488. Death_domain. IPR000906. ZU5. [Graphical view] |
| Pfam | PF00023. Ank. 1 hit. PF12796. Ank_2. 7 hits. PF00531. Death. 1 hit. PF00791. ZU5. 1 hit. [Graphical view] |
| PRINTS | PR01415. ANKYRIN. |
| SMART | SM00248. ANK. 22 hits. SM00005. DEATH. 1 hit. SM00218. ZU5. 1 hit. [Graphical view] |
| SUPFAM | SSF48403. ANK. 2 hits. SSF47986. DEATH_like. 1 hit. |
| PROSITE | PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 21 hits. PS50017. DEATH_DOMAIN. 1 hit. PS51145. ZU5. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ANK3. human. |
| GenomeRNAi | 288. |
| NextBio | 1175. |
| SOURCE | Search... |
Entry information
| Entry name | ANK3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q12955 Secondary accession number(s): B4DIL1 Q7Z3G4 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
