Reviewed,
UniProtKB/Swiss-Prot Q09666 (AHNK_HUMAN)
Last modified
November 24, 2009.
Version 73.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Neuroblast differentiation-associated protein AHNAK Alternative name(s): Desmoyokin | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete 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 | 5890 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May be required for neuronal cell differentiation. |
| Subunit structure | Interacts with DYSF; the interaction is direct and Ca2+-independent. Ref.4 |
| Subcellular location | |
| Sequence similarities | Contains 1 PDZ (DHR) domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Polymorphism |
| Domain | Repeat |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | nervous system development Non-traceable author statement. Source: UniProtKB |
| Cellular component | nucleus Ref.2 Non-traceable author statement. Source: UniProtKB |
| Molecular function | protein binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 5890 | 5890 | Neuroblast differentiation-associated protein AHNAK | PRO_0000064504 | |||||
Regions | |||||||||
| Domain | 9 – 90 | 82 | PDZ | ||||||
| Motif | 4971 – 4979 | 9 | Nuclear localization signal Potential | ||||||
| Motif | 5019 – 5027 | 9 | Nuclear localization signal Potential | ||||||
| Motif | 5034 – 5039 | 6 | Nuclear localization signal Potential | ||||||
| Motif | 5706 – 5716 | 11 | Nuclear localization signal Potential | ||||||
| Motif | 5772 – 5779 | 8 | Nuclear localization signal Potential | ||||||
| Compositional bias | 5458 – 5654 | 197 | Gly-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 41 | 1 | Phosphoserine Ref.7 Ref.8 Ref.13 | ||||||
| Modified residue | 93 | 1 | Phosphoserine Ref.7 Ref.8 | ||||||
| Modified residue | 177 | 1 | Phosphoserine | ||||||
| Modified residue | 210 | 1 | Phosphoserine | ||||||
| Modified residue | 216 | 1 | Phosphoserine | ||||||
| Modified residue | 490 | 1 | Phosphothreonine Ref.8 Ref.12 Ref.14 | ||||||
| Modified residue | 511 | 1 | Phosphoserine Ref.7 Ref.8 Ref.13 Ref.12 Ref.14 Ref.11 | ||||||
| Modified residue | 559 | 1 | Phosphoserine Ref.11 | ||||||
| Modified residue | 570 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 715 | 1 | Phosphotyrosine Ref.17 | ||||||
| Modified residue | 793 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 836 | 1 | Phosphotyrosine Ref.17 | ||||||
| Modified residue | 964 | 1 | Phosphotyrosine Ref.17 | ||||||
| Modified residue | 1068 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 1469 | 1 | Phosphotyrosine Ref.17 | ||||||
| Modified residue | 2397 | 1 | Phosphoserine | ||||||
| Modified residue | 3716 | 1 | Phosphothreonine | ||||||
| Modified residue | 4684 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 4766 | 1 | Phosphothreonine Ref.8 Ref.12 | ||||||
| Modified residue | 4787 | 1 | N6-acetyllysine Ref.19 | ||||||
| Modified residue | 4812 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 4903 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 4960 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 4986 | 1 | Phosphoserine Ref.8 Ref.14 | ||||||
| Modified residue | 4993 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 5009 | 1 | Phosphothreonine Ref.8 | ||||||
| Modified residue | 5077 | 1 | Phosphoserine Ref.8 Ref.12 | ||||||
| Modified residue | 5089 | 1 | Phosphotyrosine Ref.17 | ||||||
| Modified residue | 5099 | 1 | Phosphoserine Ref.8 Ref.14 | ||||||
| Modified residue | 5110 | 1 | Phosphoserine Ref.8 Ref.12 Ref.14 | ||||||
| Modified residue | 5332 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 5397 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 5415 | 1 | Phosphothreonine Ref.8 | ||||||
| Modified residue | 5448 | 1 | Phosphoserine Ref.8 Ref.12 Ref.11 | ||||||
| Modified residue | 5552 | 1 | Phosphoserine Ref.7 Ref.8 Ref.12 Ref.14 | ||||||
| Modified residue | 5555 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 5620 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 5731 | 1 | Phosphoserine Ref.7 Ref.8 Ref.13 Ref.12 Ref.14 Ref.11 Ref.5 | ||||||
| Modified residue | 5739 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 5749 | 1 | Phosphoserine Ref.8 Ref.10 | ||||||
| Modified residue | 5752 | 1 | Phosphoserine Ref.8 Ref.12 Ref.11 Ref.6 | ||||||
| Modified residue | 5763 | 1 | Phosphoserine Ref.8 Ref.13 | ||||||
| Modified residue | 5769 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 5780 | 1 | Phosphoserine Ref.8 Ref.12 | ||||||
| Modified residue | 5782 | 1 | Phosphoserine Ref.8 Ref.12 Ref.11 | ||||||
| Modified residue | 5784 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 5793 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 5794 | 1 | Phosphothreonine Ref.8 | ||||||
| Modified residue | 5830 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 5836 | 1 | Phosphotyrosine Ref.17 | ||||||
| Modified residue | 5841 | 1 | Phosphoserine Ref.8 Ref.12 Ref.9 | ||||||
| Modified residue | 5851 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 5854 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 5857 | 1 | Phosphoserine Ref.12 | ||||||
Natural variations | |||||||||
| Natural variant | 962 | 1 | G → V: dbSNP rs664761. | VAR_039058 | |||||
| Natural variant | 2114 | 1 | A → T: dbSNP rs1298288. | VAR_039059 | |||||
| Natural variant | 2439 | 1 | P → L: dbSNP rs11824660. | VAR_039060 | |||||
| Natural variant | 3003 | 1 | Q → K: dbSNP rs566144. | VAR_039061 | |||||
| Natural variant | 3190 | 1 | V → I: dbSNP rs11231129. | VAR_039062 | |||||
| Natural variant | 3724 | 1 | S → P: dbSNP rs11231128. | VAR_039063 | |||||
| Natural variant | 4561 | 1 | G → D: dbSNP rs12795508. | VAR_039064 | |||||
| Natural variant | 4611 | 1 | M → V: dbSNP rs12801302. | VAR_039065 | |||||
| Natural variant | 4613 | 1 | I → V: dbSNP rs12801153. | VAR_039066 | |||||
| Natural variant | 4631 | 1 | D → G: dbSNP rs12801123. | VAR_039067 | |||||
| Natural variant | 5415 | 1 | T → A: dbSNP rs11231126. | VAR_039068 | |||||
Experimental info | |||||||||
| Sequence conflict | 288 | 1 | A → P in AAA69899. Ref.2 | ||||||
| Sequence conflict | 302 | 1 | G → A in AAA69899. Ref.2 | ||||||
| Sequence conflict | 1156 | 1 | V → D in AAA69899. Ref.2 | ||||||
| Sequence conflict | 1737 | 1 | P → R in AAA69899. Ref.2 | ||||||
| Sequence conflict | 1821 | 1 | F → L in AAA69899. Ref.2 | ||||||
| Sequence conflict | 4614 | 1 | S → T in AAA69898. Ref.2 | ||||||
| Sequence conflict | 4627 | 1 | V → A in AAA69898. Ref.2 | ||||||
| Sequence conflict | 4630 – 4631 | 2 | RD → KG in AAA69898. Ref.2 | ||||||
| Sequence conflict | 4637 – 4638 | 2 | DV → NT in AAA69898. Ref.2 | ||||||
| Sequence conflict | 4644 | 1 | Q → H in AAA69898. Ref.2 | ||||||
| Sequence conflict | 4830 | 1 | A → P in AAA69898. Ref.2 | ||||||
| Sequence conflict | 4834 | 1 | G → V in AAA69898. Ref.2 | ||||||
| Sequence conflict | 4837 | 1 | F → V in AAA69898. Ref.2 | ||||||
| Sequence conflict | 4984 | 1 | A → P in AAA69898. Ref.2 | ||||||
| Sequence conflict | 5445 | 1 | P → S in AAA69898. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "A human gene (AHNAK) encoding an unusually large protein with a 1.2-microns polyionic rod structure." Shtivelman E., Cohen F.E., Bishop J.M. Proc. Natl. Acad. Sci. U.S.A. 89:5472-5476(1992) [PubMed: 1608957] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 114-1930, NUCLEOTIDE SEQUENCE [MRNA] OF 4614-5890. Tissue: Placenta. |
| [3] | Erratum Shtivelman E., Cohen F.E., Bishop J.M. Proc. Natl. Acad. Sci. U.S.A. 90:4328-4328(1993) |
| [4] | "AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration." Huang Y., Laval S.H., van Remoortere A., Baudier J., Benaud C., Anderson L.V., Straub V., Deelder A., Frants R.R., den Dunnen J.T., Bushby K., van der Maarel S.M. FASEB J. 21:732-742(2007) [PubMed: 17185750] [Abstract] Cited for: INTERACTION WITH DYSF. |
| [5] | "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-5731, MASS SPECTROMETRY. |
| [6] | "Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment." Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J. J. Proteome Res. 7:5167-5176(2008) [PubMed: 19367720] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-5752, MASS SPECTROMETRY. Tissue: T-cell. |
| [7] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-41; SER-93; SER-511; SER-5552 AND SER-5731, MASS SPECTROMETRY. |
| [8] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-41; SER-93; THR-490; SER-511; SER-570; SER-793; SER-1068; SER-4684; THR-4766; SER-4812; SER-4903; SER-4960; SER-4986; SER-4993; THR-5009; SER-5077; SER-5099; SER-5110; SER-5332; THR-5415; SER-5448; SER-5552; SER-5555; SER-5731; SER-5749; SER-5752; SER-5763; SER-5769; SER-5780; SER-5782; SER-5784; SER-5793; THR-5794; SER-5830 AND SER-5841, MASS SPECTROMETRY. |
| [9] | "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed: 18318008] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-5841, MASS SPECTROMETRY. Tissue: Liver. |
| [10] | Carrascal M., Abian J. Submitted (JAN-2008) to UniProtKB Cited for: PHOSPHORYLATION AT SER-5749, MASS SPECTROMETRY. |
| [11] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-511; SER-559; SER-5448; SER-5731; SER-5752 AND SER-5782, MASS SPECTROMETRY. Tissue: Epithelium. |
| [12] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-490; SER-511; THR-4766; SER-5077; SER-5110; SER-5397; SER-5448; SER-5552; SER-5620; SER-5731; SER-5739; SER-5752; SER-5780; SER-5782; SER-5841; SER-5851; SER-5854 AND SER-5857, MASS SPECTROMETRY. Tissue: Epithelium. |
| [13] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-41; SER-511; SER-5731 AND SER-5763, MASS SPECTROMETRY. Tissue: Epithelium. |
| [14] | "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-490; SER-511; SER-4986; SER-5099; SER-5110; SER-5552 AND SER-5731, MASS SPECTROMETRY. Tissue: Epithelium. |
| [15] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [16] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-177; SER-210; SER-216; THR-3716; SER-5731; SER-5749; SER-5752 AND SER-5763, MASS SPECTROMETRY. |
| [17] | "An extensive survey of tyrosine phosphorylation revealing new sites in human mammary epithelial cells." Heibeck T.H., Ding S.-J., Opresko L.K., Zhao R., Schepmoes A.A., Yang F., Tolmachev A.V., Monroe M.E., Camp D.G. II, Smith R.D., Wiley H.S., Qian W.-J. J. Proteome Res. 8:3852-3861(2009) [PubMed: 19534553] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-715; TYR-836; TYR-964; TYR-1469; TYR-5089 AND TYR-5836, MASS SPECTROMETRY. Tissue: Mammary epithelium. |
| [18] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-511; SER-570; SER-2397; SER-5448; SER-5731; SER-5749; SER-5752 AND SER-5763, MASS SPECTROMETRY. Tissue: T-cell. |
| [19] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-4787, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AP001363 Genomic DNA. No translation available. M80899 mRNA. Translation: AAA69898.1. M80902 mRNA. Translation: AAA69899.1. Different initiation. | |
| IPI | IPI00021812. |
| PIR | A45259. |
| RefSeq | NP_001611.1. |
| UniGene | Hs.502756 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q09666. |
Protein family/group databases | |
| TCDB | 1.A.31.1.4. annexin family. |
PTM databases | |
| PhosphoSite | Q09666. |
Proteomic databases | |
| PeptideAtlas | Q09666. |
| PRIDE | Q09666. |
Genome annotation databases | |
| Ensembl | ENST00000378024; ENSP00000367263; ENSG00000124942; Homo sapiens. [Genome view] |
| GeneID | 79026. |
| KEGG | hsa:79026. |
| UCSC | uc001ntl.1. human. |
Organism-specific databases | |
| CTD | 79026. |
| GeneCards | GC11M062040. |
| HGNC | HGNC:347. AHNAK. |
| HPA | HPA019010. HPA019070. |
| MIM | 103390. gene. |
| PharmGKB | PA24640. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q09666. |
| OrthoDB | EOG95QKZB |
Gene expression databases | |
| ArrayExpress | Q09666. |
| Bgee | Q09666. |
| CleanEx | HS_AHNAK. |
| Genevestigator | Q09666. |
| GermOnline | ENSG00000124942. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007597. CheC. IPR001478. PDZ/DHR/GLGF. [Graphical view] |
| Pfam | PF04509. CheC. 33 hits. PF00595. PDZ. 1 hit. [Graphical view] |
| SMART | SM00228. PDZ. 1 hit. [Graphical view] |
| PROSITE | PS50106. PDZ. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 67715. |
| SOURCE | Search... |
Entry information
| Entry name | AHNK_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q09666 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 11 Human chromosome 11: 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


