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UniProtKB/Swiss-Prot Q8IVF2 (AHNK2_HUMAN)
Last modified
July 22, 2008.
Version 27.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Protein AHNAK2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| 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 transcript level. |
General annotation (Comments)
| Subcellular location | NucleusBy similarity. |
| Sequence similarities | Contains 1 PDZ (DHR) domain. |
| Sequence caution | BAC23115.1 sequence differs from that shown. Reason: Frameshift at position 3008. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
Gene Ontology (GO) | |
| None. [Check GOA] | |
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. | |||||
| Notes: 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 | ||||
Molecule processing | ||||||||
|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 5795 | 5795 | Protein AHNAK2 | |||||
Regions | ||||||||
| Domain | 112 – 193 | 82 | PDZ | |||||
Natural variations | ||||||||
| Alternative sequence | 1 – 5002 | 5002 | Missing in isoform 2. | |||||
| Alternative sequence | 1 – 100 | 100 | Missing in isoform 3. | |||||
| Natural variant | 1266 | 1 | V → M: dbSNP rs11850930. | |||||
| Natural variant | 1470 | 1 | L → V: dbSNP rs12890949. | |||||
| Natural variant | 2115 | 1 | S → R: dbSNP rs2582514. | |||||
| Natural variant | 2429 | 1 | D → E: dbSNP rs11160826. | |||||
| Natural variant | 2430 | 1 | L → V: dbSNP rs2819426. | |||||
| Natural variant | 2616 | 1 | V → A: dbSNP rs4264326. | |||||
| Natural variant | 5028 | 1 | L → M: dbSNP rs9672139. | |||||
| Natural variant | 5564 | 1 | G → R: dbSNP rs2819420. | |||||
Experimental info | ||||||||
| Sequence conflict | 3195 | 1 | P → L in BAC23115. Ref.4 | |||||
| Sequence conflict | 3198 | 1 | A → V in BAC23115. Ref.4 | |||||
| Sequence conflict | 4664 | 1 | T → A in CAD98019. Ref.5 | |||||
| Sequence conflict | 4740 | 1 | E → G in CAD98019. Ref.5 | |||||
| Sequence conflict | 5139 | 1 | G → E in CAD97904, CAD97981 and CAD98019. Ref.5 | |||||
| Sequence conflict | 5184 | 1 | Y → D in CAD97904, CAD97981 and CAD98019. Ref.5 | |||||
| Sequence conflict | 5269 | 1 | L → P in CAD98019. Ref.5 | |||||
| Sequence conflict | 5397 | 1 | P → A in AAH11859 and AAH49216. Ref.2 | |||||
| Sequence conflict | 5397 | 1 | P → A in CAD97904, CAD97981 and 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). 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. |

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