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Q96N16 (JKIP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Name:JAKMIP1
Synonyms:GABABRBP, JAMIP1, MARLIN1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length626 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Cytoplasmcytoskeleton. 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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

HTTP428584EBI-2680803,EBI-466029

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 626626Janus kinase and microtubule-interacting protein 1
PRO_0000323008

Regions

Region1 – 365365Mediates association with microtubules
Region365 – 626262Mediates interaction with TYK2 and GABBR1
Coiled coil19 – 255237 Potential
Coiled coil284 – 413130 Potential
Coiled coil490 – 604115 Potential

Amino acid modifications

Modified residue3821Phosphoserine Ref.9
Modified residue4701Phosphothreonine Ref.9

Natural variations

Alternative sequence1 – 208208Missing in isoform 6.
VSP_031989
Alternative sequence44 – 208165Missing in isoform 5.
VSP_031990
Alternative sequence374 – 43158QASLK…GKSLK → HGAAAAGPAENPRTGGQTGV SEAAPERTGGKVFVPFFVFL TSIHSVALMTSVSQELGL in isoform 3.
VSP_031991
Alternative sequence415 – 43420Missing in isoform 5.
VSP_031992
Alternative sequence432 – 626195Missing in isoform 3.
VSP_031993
Alternative sequence494 – 52027Missing in isoform 6.
VSP_031994
Alternative sequence495 – 56975YQALQ…DLLEK → DLQAAVEKVRRQILRQSREF DSQILRERMELLQQAQQRIR ELEDKLEFQKRHLKELEEKF LFLFLFFSLAFILWP in isoform 4.
VSP_031995
Alternative sequence570 – 62657Missing in isoform 4.
VSP_031996
Alternative sequence603 – 62624VRDSI…KLKFM → ERERRSPAFNLQITTFPENH SSALQLFCHQEGVKDVNVSE LMKKLDILGDNGNLRNEEQV AIIQAGTVLALCEKWLKQIE GTEAALTQKMLDLEKEKDLF SRQKGYLEEELDYRKQALDQ AYLKIQDLEATLYTALQQEP GRRAGEALSEGQREDLQAAV EKVRRQILRQSREFDSQILR ERMELLQQAQQRIRELEDKL EFQKRHLKELEEKFLFLFLF FSLAFILWP in isoform 2 and isoform 5.
VSP_031997
Natural variant2511K → R. Ref.2
VAR_039471
Natural variant3751A → V in a colorectal cancer sample; somatic mutation. Ref.10
VAR_039472

Experimental info

Sequence conflict1631K → N in AAH47075. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Jakmip1A) [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 6A8E164E8A2A7EFB

FASTA62673,209
        10         20         30         40         50         60 
MSKKGRSKGE KPEMETDAVQ MANEELRAKL TSIQIEFQQE KSKVGKLRER LQEAKLEREQ 

        70         80         90        100        110        120 
EQRRHTAYIS ELKAKLHEEK TKELQALREG LIRQHEQEAA RTAKIKEGEL QRLQATLNVL 

       130        140        150        160        170        180 
RDGAADKVKT ALLTEAREEA RRAFDGERLR LQQEILELKA ARKQAEEALS NCMQADKTKA 

       190        200        210        220        230        240 
ADLRAAYQAH QDEVHRIKRE CERDIRRLMD EIKGKDRVIL ALEKELGVQA GQTQKLLLQK 

       250        260        270        280        290        300 
EALDEQLVQV KEAERHHSSP KRELPPGIGD MVELMGVQDQ HMDERDVRRF QLKIAELNSV 

       310        320        330        340        350        360 
IRKLEDRNTL LADERNELLK RSRETEVQLK PLVEKNKRMN KKNEDLLQSI QRMEEKIKNL 

       370        380        390        400        410        420 
TRENVEMKEK LSAQASLKRH TSLNDLSLTR DEQEIEFLRL QVLEQQHVID DLSLERERLL 

       430        440        450        460        470        480 
RSKRHRGKSL KPPKKHVVET FFGFDEESVD SETLSETSYN TDRTDRTPAT PEEDLDDATA 

       490        500        510        520        530        540 
REEADLRFCQ LTREYQALQR AYALLQEQVG GTLDAEREAR TREQLQADLL RCQAKIEDLE 

       550        560        570        580        590        600 
KLLVEKGQDS KWVEEKQLLI RTNQDLLEKI YRLEMEENQL KNEMQDAKDQ NELLEFRVLE 

       610        620 
LEVRDSICCK LSNGADILFE PKLKFM 

« Hide

Isoform 2 (Jakmip1B) [UniParc].

Checksum: 331CB5500A662634
Show »

FASTA83197,436
Isoform 3 (Jakmip1C) [UniParc].

Checksum: 13C02CC36809B13C
Show »

FASTA43149,323
Isoform 4 (Jakmip1D) [UniParc].

Checksum: 3592DB24973B29D2
Show »

FASTA56967,000
Isoform 5 (Jakmip1E) [UniParc].

Checksum: E0F39B9913C749C8
Show »

FASTA64675,746
Isoform 6 [UniParc].

Checksum: 799EBF218498F2B0
Show »

FASTA39145,989

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., 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.
RefSeqNP_001092903.1. NM_001099433.1.
NP_653321.1. NM_144720.3.
UniGeneHs.479066.

3D structure databases

ProteinModelPortalQ96N16.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127465. 1 interaction.
IntActQ96N16. 3 interactions.

PTM databases

PhosphoSiteQ96N16.

Polymorphism databases

DMDM74732477.

Proteomic databases

PaxDbQ96N16.
PRIDEQ96N16.

Protocols and materials databases

DNASU152789.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000282924; ENSP00000282924; ENSG00000152969. [Q96N16-1]
ENST00000409021; ENSP00000386711; ENSG00000152969. [Q96N16-2]
ENST00000409371; ENSP00000387042; ENSG00000152969. [Q96N16-5]
ENST00000409831; ENSP00000386925; ENSG00000152969. [Q96N16-1]
GeneID152789.
KEGGhsa:152789.
UCSCuc003giu.4. human. [Q96N16-1]
uc010idb.1. human. [Q96N16-2]
uc010idc.1. human. [Q96N16-5]

Organism-specific databases

CTD152789.
GeneCardsGC04M005962.
HGNCHGNC:26460. JAKMIP1.
HPAHPA044570.
MIM611195. gene.
neXtProtNX_Q96N16.
PharmGKBPA143485508.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG147883.
HOVERGENHBG054249.
OMAMVELMGV.
OrthoDBEOG7HHWRJ.
PhylomeDBQ96N16.
TreeFamTF331900.

Gene expression databases

ArrayExpressQ96N16.
BgeeQ96N16.
CleanExHS_JAKMIP1.
GenevestigatorQ96N16.

Family and domain databases

InterProIPR024836. JAKMIP.
[Graphical view]
PANTHERPTHR18935. PTHR18935. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi152789.
NextBio87027.
PMAP-CutDBQ96N16.
PROQ96N16.
SOURCESearch...

Entry information

Entry nameJKIP1_HUMAN
AccessionPrimary (citable) accession number: Q96N16
Secondary accession number(s): A6H2J2 expand/collapse secondary AC list , A6H2J3, A6H2J4, A6H2J5, A8MTK6, B8ZZR7, D3DVT0, Q86Y69, Q8N7G3
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM