Q96AA8 (JKIP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 76.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Janus kinase and microtubule-interacting protein 2 Alternative name(s): CTCL tumor antigen HD-CL-04 Neuroendocrine long coiled-coil protein 1 | ||||
| Gene names |
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| 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 | 810 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Subcellular location | |
| Tissue specificity | Highly expressed in brain, moderately expressed in thymus, spleen and lung, and weakly expressed in kidney, liver and peripheral blood lymphocytes. Aslo expressed in adrenal and pituitary glands, as well as testis. Ref.2 Ref.7 |
| Sequence similarities | Belongs to the JAKMIP family. |
| Sequence caution | The sequence BAA25481.2 differs from that shown. Reason: Frameshift at position 805. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Golgi apparatus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96AA8-1) 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: Q96AA8-2) The sequence of this isoform differs from the canonical sequence as follows: 539-559: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q96AA8-3) The sequence of this isoform differs from the canonical sequence as follows: 805-810: SNRKHG → FLFLFLFFSLAFILWP |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 810 | 810 | Janus kinase and microtubule-interacting protein 2 | PRO_0000050762 | |||||
Regions | |||||||||
| Coiled coil | 13 – 102 | 90 | Potential | ||||||
| Coiled coil | 148 – 178 | 31 | Potential | ||||||
| Coiled coil | 207 – 244 | 38 | Potential | ||||||
| Coiled coil | 280 – 419 | 140 | Potential | ||||||
| Coiled coil | 468 – 597 | 130 | Potential | ||||||
| Coiled coil | 664 – 808 | 145 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 539 – 559 | 21 | Missing in isoform 2. | VSP_002430 | |||||
| Alternative sequence | 805 – 810 | 6 | SNRKHG → FLFLFLFFSLAFILWP in isoform 3. | VSP_028230 | |||||
| Natural variant | 106 | 1 | V → I. Corresponds to variant rs3749736 [ dbSNP | Ensembl ]. | VAR_022059 | |||||
| Natural variant | 315 | 1 | R → C in a colorectal cancer sample; somatic mutation. Ref.8 | VAR_035930 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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] (ISOFORM 1). |
| [2] | "Identification and characterization of two novel (neuro)endocrine long coiled-coil proteins." Cruz-Garcia D., Vazquez-Martinez R., Peinado J.R., Anouar Y., Tonon M.C., Vaudry H., Castano J.P., Malagon M.M. FEBS Lett. 581:3149-3156(2007) [PubMed: 17572408] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Cervix carcinoma. |
| [3] | "SEREX identification of new tumour-associated antigens in cutaneous T-cell lymphoma." Hartmann T.B., Thiel D., Dummer R., Schadendorf D., Eichmueller S. Br. J. Dermatol. 150:252-258(2004) [PubMed: 14996095] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: T-cell lymphoma. |
| [4] | "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed: 9628581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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 1). Tissue: Muscle. |
| [7] | "Jamip1 (marlin-1) defines a family of proteins interacting with Janus kinases and microtubules." Steindler C., Li Z., Algarte M., Alcover A., Libri V., Ragimbeau J., Pellegrini S. J. Biol. Chem. 279:43168-43177(2004) [PubMed: 15277531] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [8] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-315. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK291280 mRNA. Translation: BAF83969.1. EF512550 mRNA. Translation: ABP62932.1. AF273057 mRNA. Translation: AAM44460.1. AB011127 mRNA. Translation: BAA25481.2. Frameshift. CH471062 Genomic DNA. Translation: EAW61820.1. BC017354 mRNA. Translation: AAH17354.1. |
| IPI | IPI00059369. IPI00479428. IPI00867585. |
| PIR | T00331. |
| RefSeq | NP_055605.2. NM_014790.3. |
| UniGene | Hs.184323. |
3D structure databases | |
| ProteinModelPortal | Q96AA8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96AA8. 1 interaction. |
| MINT | MINT-1445731. |
| STRING | Q96AA8. |
PTM databases | |
| PhosphoSite | Q96AA8. |
Polymorphism databases | |
| DMDM | 20140696. |
Proteomic databases | |
| PRIDE | Q96AA8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000265272; ENSP00000265272; ENSG00000176049. |
| GeneID | 9832. |
| KEGG | hsa:9832. |
| UCSC | uc003loq.1. human. uc003lor.1. human. |
Organism-specific databases | |
| CTD | 9832. |
| GeneCards | GC05M146949. |
| H-InvDB | HIX0017968. |
| HGNC | HGNC:29067. JAKMIP2. |
| MIM | 611197. gene. |
| neXtProt | NX_Q96AA8. |
| PharmGKB | PA143485509. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG18572. |
| GeneTree | ENSGT00390000002812. |
| HOVERGEN | HBG054249. |
| OMA | DIQIELH. |
| OrthoDB | EOG4BP1B5. |
| PhylomeDB | Q96AA8. |
Gene expression databases | |
| ArrayExpress | Q96AA8. |
| Bgee | Q96AA8. |
| CleanEx | HS_JAKMIP2. |
| Genevestigator | Q96AA8. |
| GermOnline | ENSG00000176049. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR024836. JAKMIP. [Graphical view] |
| PANTHER | PTHR18935. PTHR18935. 1 hit. |
| ProtoNet | Search... |
Other | |
| NextBio | 37050. |
| SOURCE | Search... |
Entry information
| Entry name | JKIP2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96AA8 Secondary accession number(s): A4ZZA7 Q548S1 | ||||||||
| Entry history |
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| 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 5 Human chromosome 5: 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