Reviewed,
UniProtKB/Swiss-Prot Q8IVF2 (AHNK2_HUMAN)
Last modified
November 24, 2009.
Version 42.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Protein AHNAK2 | ||||
| Gene names |
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| 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 | 5795 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subunit structure | Interacts with DYSF; the interaction is direct and Ca2+-independent. Ref.6 |
| Subcellular location | Nucleus By similarity. |
| Sequence similarities | Contains 1 PDZ (DHR) domain. |
| Sequence caution | The sequence BAC23115.1 differs from that shown. Reason: Frameshift at position 3008. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | keratinization Inferred from electronic annotation. Source: InterPro |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: InterPro nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8IVF2-1) 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: Q8IVF2-2) The sequence of this isoform differs from the canonical sequence as follows: 1-5002: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8IVF2-3) The sequence of this isoform differs from the canonical sequence as follows: 1-100: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 5795 | 5795 | Protein AHNAK2 | PRO_0000319962 | |||||
Regions | |||||||||
| Domain | 112 – 193 | 82 | PDZ | ||||||
Amino acid modifications | |||||||||
| Modified residue | 280 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 294 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 2500 | 1 | N6-acetyllysine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 5002 | 5002 | Missing in isoform 2. | VSP_031550 | |||||
| Alternative sequence | 1 – 100 | 100 | Missing in isoform 3. | VSP_031551 | |||||
| Natural variant | 525 | 1 | T → A: dbSNP rs2278607. | VAR_050635 | |||||
| Natural variant | 1266 | 1 | V → M: dbSNP rs11850930. | VAR_039069 | |||||
| Natural variant | 1470 | 1 | L → V: dbSNP rs12890949. | VAR_039070 | |||||
| Natural variant | 1856 | 1 | E → D: dbSNP rs2819435. | VAR_059560 | |||||
| Natural variant | 2107 | 1 | M → V: dbSNP rs11846918. | VAR_050636 | |||||
| Natural variant | 2115 | 1 | S → R: dbSNP rs2582514. | VAR_039071 | |||||
| Natural variant | 2146 | 1 | L → V: dbSNP rs12890949. | VAR_059561 | |||||
| Natural variant | 2410 | 1 | K → R: dbSNP rs11845746. | VAR_050637 | |||||
| Natural variant | 2429 | 1 | D → E: dbSNP rs11160826. | VAR_039072 | |||||
| Natural variant | 2430 | 1 | L → V: dbSNP rs2819426. | VAR_039073 | |||||
| Natural variant | 2503 | 1 | E → A: dbSNP rs2819429. | VAR_059562 | |||||
| Natural variant | 2616 | 1 | V → A: dbSNP rs4264326. | VAR_039074 | |||||
| Natural variant | 2862 | 1 | R → S: dbSNP rs2582514. | VAR_059563 | |||||
| Natural variant | 3176 | 1 | D → E: dbSNP rs11160826. | VAR_059564 | |||||
| Natural variant | 3177 | 1 | L → V: dbSNP rs2819426. | VAR_059565 | |||||
| Natural variant | 3336 | 1 | P → L: dbSNP rs10438247. | VAR_059566 | |||||
| Natural variant | 3363 | 1 | V → A: dbSNP rs4264326. | VAR_059567 | |||||
| Natural variant | 3793 | 1 | D → N: dbSNP rs11160825. | VAR_059568 | |||||
| Natural variant | 3796 | 1 | V → L: dbSNP rs12890949. | VAR_050638 | |||||
| Natural variant | 3869 | 1 | M → V: dbSNP rs10438246. | VAR_059569 | |||||
| Natural variant | 3902 | 1 | K → N: dbSNP rs2819423. | VAR_059570 | |||||
| Natural variant | 3961 | 1 | M → V: dbSNP rs10141053. | VAR_050639 | |||||
| Natural variant | 4071 | 1 | I → M: dbSNP rs2582511. | VAR_050640 | |||||
| Natural variant | 4085 | 1 | A → V: dbSNP rs2013462. | VAR_059571 | |||||
| Natural variant | 4138 | 1 | F → L: dbSNP rs2582505. | VAR_050641 | |||||
| Natural variant | 4198 | 1 | D → N: dbSNP rs11848082. | VAR_059572 | |||||
| Natural variant | 4232 | 1 | K → N: dbSNP rs2819423. | VAR_050642 | |||||
| Natural variant | 4278 | 1 | V → A: dbSNP rs2819422. | VAR_050643 | |||||
| Natural variant | 4326 | 1 | L → P: dbSNP rs2819421. | VAR_059573 | |||||
| Natural variant | 4478 | 1 | P → L: dbSNP rs2582513. | VAR_059574 | |||||
| Natural variant | 4536 | 1 | M → L: dbSNP rs9672139. | VAR_050644 | |||||
| Natural variant | 4664 | 1 | T → A: dbSNP rs4465542. Ref.5 | VAR_050645 | |||||
| Natural variant | 5028 | 1 | L → M: dbSNP rs9672139. | VAR_039075 | |||||
| Natural variant | 5072 | 1 | G → R: dbSNP rs2819420. | VAR_050646 | |||||
| Natural variant | 5184 | 1 | Y → D: dbSNP rs2819419. Ref.5 | VAR_050647 | |||||
| Natural variant | 5397 | 1 | P → A: dbSNP rs3742935. Ref.5 Ref.2 | VAR_050648 | |||||
| Natural variant | 5564 | 1 | G → R: dbSNP rs2819420. | VAR_039076 | |||||
| Natural variant | 5732 | 1 | T → M: dbSNP rs748358. | VAR_050649 | |||||
Experimental info | |||||||||
| Sequence conflict | 3195 | 1 | P → L in BAC23115. Ref.4 | ||||||
| Sequence conflict | 3198 | 1 | A → V in BAC23115. Ref.4 | ||||||
| Sequence conflict | 4740 | 1 | E → G in CAD98019. Ref.5 | ||||||
| Sequence conflict | 5139 | 1 | G → E in CAD97904. Ref.5 | ||||||
| Sequence conflict | 5139 | 1 | G → E in CAD97981. Ref.5 | ||||||
| Sequence conflict | 5139 | 1 | G → E in CAD98019. Ref.5 | ||||||
| Sequence conflict | 5269 | 1 | L → P in CAD98019. Ref.5 | ||||||
| Sequence conflict | 5560 | 1 | D → G in CAD97904. Ref.5 | ||||||
| Sequence conflict | 5577 | 1 | I → V in CAD97904. Ref.5 | ||||||
| Sequence conflict | 5590 | 1 | T → A in CAD97981. Ref.5 | ||||||
| Sequence conflict | 5601 | 1 | D → G in CAD98034. Ref.5 | ||||||
Sequences
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References
| [1] | "The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. Weissenbach J.Nature 421:601-607(2003) [PubMed: 12508121] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-77 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-647 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5281-5795 (ISOFORMS 1/2/3), VARIANT ALA-5397. Tissue: Eye, Kidney, Skin, Testis and Uterine adenocarcinoma. |
| [3] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-631 (ISOFORM 3). Tissue: Astrocyte. |
| [4] | "The nucleotide sequence of a long cDNA clone isolated from human." Nagase T., Kikuno R., Ohara O. Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2994-5795 (ISOFORMS 1/3). Tissue: Brain. |
| [5] | "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: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4587-5795 (ISOFORMS 1/3), VARIANTS ALA-4664; ASP-5184 AND ALA-5397. Tissue: Colon endothelium, Melanoma and Uterus. |
| [6] | "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. |
| [7] | "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-280 AND SER-294, MASS SPECTROMETRY. |
| [8] | "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-2500, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AL512802 Genomic DNA. No translation available. AI915159 mRNA. No translation available. BC011859 mRNA. Translation: AAH11859.2. BC033372 mRNA. Translation: AAH33372.1. BC049216 mRNA. Translation: AAH49216.1. Different initiation. BC090889 mRNA. Translation: AAH90889.1. Different initiation. AK094143 mRNA. No translation available. AB095939 mRNA. Translation: BAC23115.1. Frameshift. AL834367 mRNA. Translation: CAD39030.1. BX537923 mRNA. Translation: CAD97904.1. BX538040 mRNA. Translation: CAD97981.1. BX538106 mRNA. Translation: CAD98019.1. BX538133 mRNA. Translation: CAD98034.1. | |
| IPI | IPI00856045. IPI00884904. IPI00885105. |
| RefSeq | NP_612429.2. |
| UniGene | Hs.441783 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q8IVF2. |
Proteomic databases | |
| PRIDE | Q8IVF2. |
Genome annotation databases | |
| Ensembl | ENST00000333244; ENSP00000353114; ENSG00000185567; Homo sapiens. [Genome view] |
| GeneID | 113146. |
| KEGG | hsa:113146. |
| UCSC | uc001ypx.2. human. uc010axc.1. human. |
Organism-specific databases | |
| CTD | 113146. |
| GeneCards | GC14M104476. |
| HGNC | HGNC:20125. AHNAK2. |
| MIM | 608570. gene. |
| PharmGKB | PA134910487. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8IVF2. |
| OrthoDB | EOG9WWV5H |
Gene expression databases | |
| ArrayExpress | Q8IVF2. |
| Bgee | Q8IVF2. |
| Genevestigator | Q8IVF2. |
Family and domain databases | |
| InterPro | IPR000354. Involucrin_rpt. IPR001478. PDZ/DHR/GLGF. [Graphical view] |
| Pfam | PF00904. Involucrin. 5 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 | 78752. |
| SOURCE | Search... |
Entry information
| Entry name | AHNK2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IVF2 Secondary accession number(s): Q5BKX7 Q96EX9 | ||||||||
| 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 14 Human chromosome 14: 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


