Q96N16 (JKIP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 80.
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 1 Alternative name(s): GABA-B receptor-binding protein Multiple alpha-helices and RNA-linker protein 1 Short name=Marlin-1 | ||||
| Gene names |
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| 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 | 626 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements. Ref.1 Ref.7 Ref.8 |
| Subunit structure | Homodimer. Forms a complex with GABBR1 and KIF5B/kinesin-1. Interacts with JAK1 and TYK2. Ref.1 Ref.7 Ref.8 |
| Subcellular location | Cytoplasm › cytoskeleton. Membrane; Peripheral membrane protein. Note: Colocalizes with the microtubule network. Localizes to the cell body and neurites of hippocampal neurons where it accumulates in granules. Localizes to the tail and to a lower extent to the head of sperm cells. Ref.1 Ref.7 |
| Tissue specificity | Predominantly expressed in neural tissues and lymphoid cells (at protein level). Isoform 2, isoform 3 and isoform 4 are specifically expressed in brain and retina. Isoform 1 and isoform 5 are also detected in liver, lung and skeletal muscle. Also detected in testis and to a lower extent spleen and intestine. Ref.2 Ref.7 |
| Sequence similarities | Belongs to the JAKMIP family. |
| Caution | Was originally (Ref.1) thought to bind single-stranded RNA molecules and regulate GABA-B receptor expression. |
| Sequence caution | The sequence BAC05325.1 differs from that shown. Reason: Erroneous termination at position 285. Translated as Arg. The sequence BAC05325.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Transport |
| Cellular component | Cytoplasm Cytoskeleton Membrane Microtubule |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | protein transport Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW extrinsic to membraneInferred from direct assay Ref.1. Source: MGI microtubuleInferred from electronic annotation. Source: UniProtKB-KW ribonucleoprotein complexInferred from direct assay Ref.1. Source: MGI |
| Molecular_function | GABA receptor binding Inferred from direct assay Ref.1. Source: MGI RNA bindingInferred from direct assay Ref.1. Source: MGI |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96N16-1) Also known as: Jakmip1A; 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: Q96N16-2) Also known as: Jakmip1B; The sequence of this isoform differs from the canonical sequence as follows: 603-626: VRDSICCKLSNGADILFEPKLKFM → ERERRSPAFN...FFSLAFILWP | ||||||
| Isoform 3 (identifier: Q96N16-3) Also known as: Jakmip1C; The sequence of this isoform differs from the canonical sequence as follows: 374-431: QASLKRHTSL...SKRHRGKSLK → HGAAAAGPAE...MTSVSQELGL 432-626: Missing. | ||||||
| Note: Dubious isoform produced through aberrant splice sites. | ||||||
| Isoform 4 (identifier: Q96N16-4) Also known as: Jakmip1D; The sequence of this isoform differs from the canonical sequence as follows: 495-569: YQALQRAYAL...IRTNQDLLEK → DLQAAVEKVR...FFSLAFILWP 570-626: Missing. | ||||||
| Note: Dubious isoform produced through aberrant splice sites. | ||||||
| Isoform 5 (identifier: Q96N16-5) Also known as: Jakmip1E; The sequence of this isoform differs from the canonical sequence as follows: 44-208: Missing. 415-434: Missing. 603-626: VRDSICCKLSNGADILFEPKLKFM → ERERRSPAFN...FFSLAFILWP | ||||||
| Isoform 6 (identifier: Q96N16-6) The sequence of this isoform differs from the canonical sequence as follows: 1-208: Missing. 494-520: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 626 | 626 | Janus kinase and microtubule-interacting protein 1 | PRO_0000323008 | |||||
Regions | |||||||||
| Region | 1 – 365 | 365 | Mediates association with microtubules | ||||||
| Region | 365 – 626 | 262 | Mediates interaction with TYK2 and GABBR1 | ||||||
| Coiled coil | 19 – 255 | 237 | Potential | ||||||
| Coiled coil | 284 – 413 | 130 | Potential | ||||||
| Coiled coil | 490 – 604 | 115 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 382 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 470 | 1 | Phosphothreonine Ref.9 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 208 | 208 | Missing in isoform 6. | VSP_031989 | |||||
| Alternative sequence | 44 – 208 | 165 | Missing in isoform 5. | VSP_031990 | |||||
| Alternative sequence | 374 – 431 | 58 | QASLK…GKSLK → HGAAAAGPAENPRTGGQTGV SEAAPERTGGKVFVPFFVFL TSIHSVALMTSVSQELGL in isoform 3. | VSP_031991 | |||||
| Alternative sequence | 415 – 434 | 20 | Missing in isoform 5. | VSP_031992 | |||||
| Alternative sequence | 432 – 626 | 195 | Missing in isoform 3. | VSP_031993 | |||||
| Alternative sequence | 494 – 520 | 27 | Missing in isoform 6. | VSP_031994 | |||||
| Alternative sequence | 495 – 569 | 75 | YQALQ…DLLEK → DLQAAVEKVRRQILRQSREF DSQILRERMELLQQAQQRIR ELEDKLEFQKRHLKELEEKF LFLFLFFSLAFILWP in isoform 4. | VSP_031995 | |||||
| Alternative sequence | 570 – 626 | 57 | Missing in isoform 4. | VSP_031996 | |||||
| Alternative sequence | 603 – 626 | 24 | VRDSI…KLKFM → ERERRSPAFNLQITTFPENH SSALQLFCHQEGVKDVNVSE LMKKLDILGDNGNLRNEEQV AIIQAGTVLALCEKWLKQIE GTEAALTQKMLDLEKEKDLF SRQKGYLEEELDYRKQALDQ AYLKIQDLEATLYTALQQEP GRRAGEALSEGQREDLQAAV EKVRRQILRQSREFDSQILR ERMELLQQAQQRIRELEDKL EFQKRHLKELEEKFLFLFLF FSLAFILWP in isoform 2 and isoform 5. | VSP_031997 | |||||
| Natural variant | 251 | 1 | K → R. Ref.2 | VAR_039471 | |||||
| Natural variant | 375 | 1 | A → V in a colorectal cancer sample; somatic mutation. Ref.10 | VAR_039472 | |||||
Experimental info | |||||||||
| Sequence conflict | 163 | 1 | K → N in AAH47075. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Marlin-1, a novel RNA-binding protein associates with GABA receptors." Couve A., Restituito S., Brandon J.M., Charles K.J., Bawagan H., Freeman K.B., Pangalos M.N., Calver A.R., Moss S.J. J. Biol. Chem. 279:13934-13943(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH GABBR1, SUBCELLULAR LOCATION. Tissue: Brain. |
| [2] | "Identification and expression analysis of novel Jakmip1 transcripts." Costa V., Conte I., Ziviello C., Casamassimi A., Alfano G., Banfi S., Ciccodicola A. Gene 402:1-8(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 5), TISSUE SPECIFICITY, VARIANT ARG-251. Tissue: Brain. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 6). Tissue: Teratocarcinoma and Testis. |
| [4] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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 (SEP-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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [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] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH JAK1 AND TYK2, OLIGOMERIZATION, SUBCELLULAR LOCATION, PHOSPHORYLATION, TISSUE SPECIFICITY. |
| [8] | "Marlin-1 and conventional kinesin link GABAB receptors to the cytoskeleton and regulate receptor transport." Vidal R.L., Ramirez O.A., Sandoval L., Koenig-Robert R., Haertel S., Couve A. Mol. Cell. Neurosci. 35:501-512(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN A COMPLEX WITH GABBR1 AND KIF5B. |
| [9] | "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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-382 AND THR-470, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [10] | "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] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-375. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY382340 mRNA. Translation: AAR26235.1. AM412307 mRNA. Translation: CAL80778.1. AM412308 mRNA. Translation: CAL80779.1. AM412309 mRNA. Translation: CAL80780.1. AM412310 mRNA. Translation: CAL80781.1. AK056126 mRNA. Translation: BAB71098.1. AK098536 mRNA. Translation: BAC05325.1. Sequence problems. AC092442 Genomic DNA. No translation available. AC113615 Genomic DNA. No translation available. CH471131 Genomic DNA. Translation: EAW82401.1. CH471131 Genomic DNA. Translation: EAW82402.1. BC047075 mRNA. Translation: AAH47075.1. |
| IPI | IPI00410321. IPI00853270. IPI00854585. IPI00854781. IPI00887997. IPI00888736. |
| RefSeq | NP_001092903.1. NM_001099433.1. NP_653321.1. NM_144720.3. |
| UniGene | Hs.479066. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1GU4 based on UniProtKB P17676. |
| ProteinModelPortal | Q96N16. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96N16. 2 interactions. |
PTM databases | |
| PhosphoSite | Q96N16. |
Polymorphism databases | |
| DMDM | 74732477. |
Proteomic databases | |
| PaxDb | Q96N16. |
| PRIDE | Q96N16. |
Protocols and materials databases | |
| DNASU | 152789. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000282924; ENSP00000282924; ENSG00000152969. ENST00000409021; ENSP00000386711; ENSG00000152969. ENST00000409371; ENSP00000387042; ENSG00000152969. ENST00000409831; ENSP00000386925; ENSG00000152969. |
| GeneID | 152789. |
| KEGG | hsa:152789. |
| UCSC | uc003giu.4. human. uc010idb.1. human. uc010idc.1. human. |
Organism-specific databases | |
| CTD | 152789. |
| GeneCards | GC04M005962. |
| HGNC | HGNC:26460. JAKMIP1. |
| HPA | HPA044570. |
| MIM | 611195. gene. |
| neXtProt | NX_Q96N16. |
| PharmGKB | PA143485508. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG147883. |
| HOVERGEN | HBG054249. |
| OMA | MVELMGV. |
| PhylomeDB | Q96N16. |
Gene expression databases | |
| ArrayExpress | Q96N16. |
| Bgee | Q96N16. |
| CleanEx | HS_JAKMIP1. |
| Genevestigator | Q96N16. |
Family and domain databases | |
| InterPro | IPR024836. JAKMIP. [Graphical view] |
| PANTHER | PTHR18935. PTHR18935. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 152789. |
| NextBio | 87027. |
| PMAP-CutDB | Q96N16. |
| SOURCE | Search... |
Entry information
| Entry name | JKIP1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96N16 Secondary accession number(s): A6H2J2 Q8N7G3 | ||||||||
| 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 4 Human chromosome 4: 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
