LOCUS NP_653321 626 aa linear PRI 25-JAN-2009
DEFINITION janus kinase and microtubule interacting protein 1 isoform 2 [Homo
sapiens].
ACCESSION NP_653321 XP_944883 XP_949421 XP_949422 XP_949425 XP_949431
VERSION NP_653321.1 GI:21389505
DBSOURCE REFSEQ: accession NM_144720.3
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 626)
AUTHORS Libri,V., Schulte,D., van Stijn,A., Ragimbeau,J., Rogge,L. and
Pellegrini,S.
TITLE Jakmip1 is expressed upon T cell differentiation and has an
inhibitory function in cytotoxic T lymphocytes
JOURNAL J. Immunol. 181 (9), 5847-5856 (2008)
PUBMED 18941173
REMARK GeneRIF: Jakmip1 is a novel effector memory gene that restrains T
cell-mediated cytotoxicity.
REFERENCE 2 (residues 1 to 626)
AUTHORS Costa,V., Conte,I., Ziviello,C., Casamassimi,A., Alfano,G.,
Banfi,S. and Ciccodicola,A.
TITLE Identification and expression analysis of novel Jakmip1 transcripts
JOURNAL Gene 402 (1-2), 1-8 (2007)
PUBMED 17761393
REMARK GeneRIF: We have identified four new transcripts of 2975 bp, 1743
bp, 2189 bp and 2420 bp respectively, named Jakmip1B, Jakmip1C,
Jakmip1D and Jakmip1E
REFERENCE 3 (residues 1 to 626)
AUTHORS Raelson,J.V., Little,R.D., Ruether,A., Fournier,H., Paquin,B., Van
Eerdewegh,P., Bradley,W.E., Croteau,P., Nguyen-Huu,Q., Segal,J.,
Debrus,S., Allard,R., Rosenstiel,P., Franke,A., Jacobs,G.,
Nikolaus,S., Vidal,J.M., Szego,P., Laplante,N., Clark,H.F.,
Paulussen,R.J., Hooper,J.W., Keith,T.P., Belouchi,A. and
Schreiber,S.
TITLE Genome-wide association study for Crohn's disease in the Quebec
Founder Population identifies multiple validated disease loci
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 104 (37), 14747-14752 (2007)
PUBMED 17804789
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (residues 1 to 626)
AUTHORS Cruz-Garcia,D., Vazquez-Martinez,R., Peinado,J.R., Anouar,Y.,
Tonon,M.C., Vaudry,H., Castano,J.P. and Malagon,M.M.
TITLE Identification and characterization of two novel (neuro)endocrine
long coiled-coil proteins
JOURNAL FEBS Lett. 581 (17), 3149-3156 (2007)
PUBMED 17572408
REFERENCE 5 (residues 1 to 626)
AUTHORS Steindler,C., Li,Z., Algarte,M., Alcover,A., Libri,V., Ragimbeau,J.
and Pellegrini,S.
TITLE Jamip1 (marlin-1) defines a family of proteins interacting with
janus kinases and microtubules
JOURNAL J. Biol. Chem. 279 (41), 43168-43177 (2004)
PUBMED 15277531
REMARK GeneRIF: Marlin1 has a role in cell polarization, segregation of
signaling complexes, and vesicle traffic, some of which may involve
Jak tyrosine kinases
REFERENCE 6 (residues 1 to 626)
AUTHORS Jin,J., Smith,F.D., Stark,C., Wells,C.D., Fawcett,J.P.,
Kulkarni,S., Metalnikov,P., O'Donnell,P., Taylor,P., Taylor,L.,
Zougman,A., Woodgett,J.R., Langeberg,L.K., Scott,J.D. and Pawson,T.
TITLE Proteomic, functional, and domain-based analysis of in vivo 14-3-3
binding proteins involved in cytoskeletal regulation and cellular
organization
JOURNAL Curr. Biol. 14 (16), 1436-1450 (2004)
PUBMED 15324660
REFERENCE 7 (residues 1 to 626)
AUTHORS Couve,A., Restituito,S., Brandon,J.M., Charles,K.J., Bawagan,H.,
Freeman,K.B., Pangalos,M.N., Calver,A.R. and Moss,S.J.
TITLE Marlin-1, a novel RNA-binding protein associates with GABA
receptors
JOURNAL J. Biol. Chem. 279 (14), 13934-13943 (2004)
PUBMED 14718537
REMARK GeneRIF: Marlin-1 functions to regulate the cellular levels of
GABA(B) R2 subunits, which may have significant effects on the
production of functional GABA(B) receptor heterodimers
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA155551.1, AK056126.1 and AW157571.1.
On or before Mar 4, 2006 this sequence version replaced
gi:88978881, gi:88978884, gi:88978887, gi:88978890, gi:88978894.
Transcript Variant: This variant (2) uses an alternate splice site
in the 3' coding region, compared to variant 1. It encodes isoform
2 which has a shorter and distinct C-terminus compared to isoform
1.
FEATURES Location/Qualifiers
source 1..626
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="4"
/map="4p16.1"
Protein 1..626
/product="janus kinase and microtubule interacting protein
1 isoform 2"
/note="Jak and microtubule interacting protein 1; multiple
coiled-coil GABABR1-binding protein"
/calculated_mol_wt=73078
Region 36..>374
/region_name="SMC_N"
/note="RecF/RecN/SMC N terminal domain; pfam02463"
/db_xref="CDD:111369"
CDS 1..626
/gene="JAKMIP1"
/gene_synonym="JAMIP1"
/gene_synonym="MARLIN1"
/gene_synonym="FLJ31564"
/gene_synonym="Gababrbp"
/coded_by="NM_144720.3:487..2367"
/note="isoform 2 is encoded by transcript variant 2"
/db_xref="CCDS:CCDS3385.1"
/db_xref="GeneID:152789"
/db_xref="HGNC:26460"
/db_xref="HPRD:11292"
/db_xref="MIM:611195"
ORIGIN
1 mskkgrskge kpemetdavq maneelrakl tsiqiefqqe kskvgklrer lqeaklereq
61 eqrrhtayis elkaklheek tkelqalreg lirqheqeaa rtakikegel qrlqatlnvl
121 rdgaadkvkt allteareea rrafdgerlr lqqeilelka arkqaeeals ncmqadktka
181 adlraayqah qdevhrikre cerdirrlmd eikgkdrvil alekelgvqa gqtqklllqk
241 ealdeqlvqv keaerhhssp krelppgigd mvelmgvqdq hmderdvrrf qlkiaelnsv
301 irkledrntl ladernellk rsretevqlk plveknkrmn kknedllqsi qrmeekiknl
361 trenvemkek lsaqaslkrh tslndlsltr deqeieflrl qvleqqhvid dlslererll
421 rskrhrgksl kppkkhvvet ffgfdeesvd setlsetsyn tdrtdrtpat peedlddata
481 reeadlrfcq ltreyqalqr ayallqeqvg gtldaerear treqlqadll rcqakiedle
541 kllvekgqds kwveekqlli rtnqdlleki yrlemeenql knemqdakdq nellefrvle
601 levrdsicck lsngadilfe pklkfm
//