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Protein

Janus kinase and microtubule-interacting protein 1

Gene

JAKMIP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

  • GABA receptor binding Source: MGI
  • RNA binding Source: MGI

GO - Biological processi

  • cognition Source: UniProtKB
  • protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000152969-MONOMER.

Names & Taxonomyi

Protein namesi
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 namesi
Name:JAKMIP1
Synonyms:GABABRBP, JAMIP1, MARLIN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:26460. JAKMIP1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-KW
  • extrinsic component of membrane Source: MGI
  • intracellular ribonucleoprotein complex Source: MGI
  • microtubule Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Membrane, Microtubule

Pathology & Biotechi

Organism-specific databases

DisGeNETi152789.
OpenTargetsiENSG00000152969.
PharmGKBiPA143485508.

Polymorphism and mutation databases

BioMutaiJAKMIP1.
DMDMi74732477.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003230081 – 626Janus kinase and microtubule-interacting protein 1Add BLAST626

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei382PhosphoserineCombined sources1
Modified residuei470PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96N16.
PaxDbiQ96N16.
PeptideAtlasiQ96N16.
PRIDEiQ96N16.

PTM databases

iPTMnetiQ96N16.
PhosphoSitePlusiQ96N16.

Miscellaneous databases

PMAP-CutDBQ96N16.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000152969.
CleanExiHS_JAKMIP1.
ExpressionAtlasiQ96N16. baseline and differential.
GenevisibleiQ96N16. HS.

Organism-specific databases

HPAiHPA044570.

Interactioni

Subunit structurei

Homodimer. Forms a complex with GABBR1 and KIF5B/kinesin-1. Interacts with JAK1 and TYK2.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
HTTP428584EBI-2680803,EBI-466029

GO - Molecular functioni

  • GABA receptor binding Source: MGI

Protein-protein interaction databases

BioGridi127465. 1 interactor.
IntActiQ96N16. 3 interactors.
STRINGi9606.ENSP00000386711.

Structurei

3D structure databases

ProteinModelPortaliQ96N16.
SMRiQ96N16.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 365Mediates association with microtubulesAdd BLAST365
Regioni365 – 626Mediates interaction with TYK2 and GABBR12 PublicationsAdd BLAST262

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili19 – 255Sequence analysisAdd BLAST237
Coiled coili284 – 413Sequence analysisAdd BLAST130
Coiled coili490 – 604Sequence analysisAdd BLAST115

Sequence similaritiesi

Belongs to the JAKMIP family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410II6X. Eukaryota.
ENOG4110F4A. LUCA.
GeneTreeiENSGT00390000002812.
HOGENOMiHOG000060161.
HOVERGENiHBG054249.
InParanoidiQ96N16.
OMAiMVELMGV.
OrthoDBiEOG091G024X.
PhylomeDBiQ96N16.
TreeFamiTF331900.

Family and domain databases

InterProiIPR024836. JAKMIP.
IPR031994. JAKMIP_C.
[Graphical view]
PANTHERiPTHR18935. PTHR18935. 1 hit.
PfamiPF16034. JAKMIP_CC3. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96N16-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MSKKGRSKGE KPEMETDAVQ MANEELRAKL TSIQIEFQQE KSKVGKLRER
60 70 80 90 100
LQEAKLEREQ EQRRHTAYIS ELKAKLHEEK TKELQALREG LIRQHEQEAA
110 120 130 140 150
RTAKIKEGEL QRLQATLNVL RDGAADKVKT ALLTEAREEA RRAFDGERLR
160 170 180 190 200
LQQEILELKA ARKQAEEALS NCMQADKTKA ADLRAAYQAH QDEVHRIKRE
210 220 230 240 250
CERDIRRLMD EIKGKDRVIL ALEKELGVQA GQTQKLLLQK EALDEQLVQV
260 270 280 290 300
KEAERHHSSP KRELPPGIGD MVELMGVQDQ HMDERDVRRF QLKIAELNSV
310 320 330 340 350
IRKLEDRNTL LADERNELLK RSRETEVQLK PLVEKNKRMN KKNEDLLQSI
360 370 380 390 400
QRMEEKIKNL TRENVEMKEK LSAQASLKRH TSLNDLSLTR DEQEIEFLRL
410 420 430 440 450
QVLEQQHVID DLSLERERLL RSKRHRGKSL KPPKKHVVET FFGFDEESVD
460 470 480 490 500
SETLSETSYN TDRTDRTPAT PEEDLDDATA REEADLRFCQ LTREYQALQR
510 520 530 540 550
AYALLQEQVG GTLDAEREAR TREQLQADLL RCQAKIEDLE KLLVEKGQDS
560 570 580 590 600
KWVEEKQLLI RTNQDLLEKI YRLEMEENQL KNEMQDAKDQ NELLEFRVLE
610 620
LEVRDSICCK LSNGADILFE PKLKFM
Length:626
Mass (Da):73,209
Last modified:December 1, 2001 - v1
Checksum:i6A8E164E8A2A7EFB
GO
Isoform 2 (identifier: Q96N16-2) [UniParc]FASTAAdd to basket
Also known as: Jakmip1B

The sequence of this isoform differs from the canonical sequence as follows:
     603-626: VRDSICCKLSNGADILFEPKLKFM → ERERRSPAFN...FFSLAFILWP

Show »
Length:831
Mass (Da):97,436
Checksum:i331CB5500A662634
GO
Isoform 3 (identifier: Q96N16-3) [UniParc]FASTAAdd to basket
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.
Show »
Length:431
Mass (Da):49,323
Checksum:i13C02CC36809B13C
GO
Isoform 4 (identifier: Q96N16-4) [UniParc]FASTAAdd to basket
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.
Show »
Length:569
Mass (Da):67,000
Checksum:i3592DB24973B29D2
GO
Isoform 5 (identifier: Q96N16-5) [UniParc]FASTAAdd to basket
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

Show »
Length:646
Mass (Da):75,746
Checksum:iE0F39B9913C749C8
GO
Isoform 6 (identifier: Q96N16-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-208: Missing.
     494-520: Missing.

Note: No experimental confirmation available.
Show »
Length:391
Mass (Da):45,989
Checksum:i799EBF218498F2B0
GO
Isoform 7 (identifier: Q96N16-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     44-208: Missing.

Note: No experimental confirmation available.
Show »
Length:461
Mass (Da):53,973
Checksum:i6E1F8C344865C8B2
GO

Sequence cautioni

The sequence BAC05325 differs from that shown. Reason: Erroneous termination at position 285. Translated as Arg.Curated
The sequence BAC05325 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti163K → N in AAH47075 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039471251K → R.1 PublicationCorresponds to variant rs772311401dbSNPEnsembl.1
Natural variantiVAR_039472375A → V in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs199693515dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0319891 – 208Missing in isoform 6. 1 PublicationAdd BLAST208
Alternative sequenceiVSP_03199044 – 208Missing in isoform 5 and isoform 7. 2 PublicationsAdd BLAST165
Alternative sequenceiVSP_031991374 – 431QASLK…GKSLK → HGAAAAGPAENPRTGGQTGV SEAAPERTGGKVFVPFFVFL TSIHSVALMTSVSQELGL in isoform 3. 1 PublicationAdd BLAST58
Alternative sequenceiVSP_031992415 – 434Missing in isoform 5. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_031993432 – 626Missing in isoform 3. 1 PublicationAdd BLAST195
Alternative sequenceiVSP_031994494 – 520Missing in isoform 6. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_031995495 – 569YQALQ…DLLEK → DLQAAVEKVRRQILRQSREF DSQILRERMELLQQAQQRIR ELEDKLEFQKRHLKELEEKF LFLFLFFSLAFILWP in isoform 4. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_031996570 – 626Missing in isoform 4. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_031997603 – 626VRDSI…KLKFM → ERERRSPAFNLQITTFPENH SSALQLFCHQEGVKDVNVSE LMKKLDILGDNGNLRNEEQV AIIQAGTVLALCEKWLKQIE GTEAALTQKMLDLEKEKDLF SRQKGYLEEELDYRKQALDQ AYLKIQDLEATLYTALQQEP GRRAGEALSEGQREDLQAAV EKVRRQILRQSREFDSQILR ERMELLQQAQQRIRELEDKL EFQKRHLKELEEKFLFLFLF FSLAFILWP in isoform 2 and isoform 5. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AK295339 mRNA. Translation: BAG58310.1.
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.
CCDSiCCDS3385.1. [Q96N16-1]
CCDS47005.1. [Q96N16-2]
CCDS77897.1. [Q96N16-7]
RefSeqiNP_001092903.1. NM_001099433.1. [Q96N16-2]
NP_001293062.1. NM_001306133.1. [Q96N16-1]
NP_001293063.1. NM_001306134.1. [Q96N16-7]
NP_653321.1. NM_144720.3. [Q96N16-1]
XP_011511702.1. XM_011513400.2. [Q96N16-7]
XP_016863282.1. XM_017007793.1. [Q96N16-2]
UniGeneiHs.479066.

Genome annotation databases

EnsembliENST00000282924; ENSP00000282924; ENSG00000152969. [Q96N16-1]
ENST00000409021; ENSP00000386711; ENSG00000152969. [Q96N16-2]
ENST00000409371; ENSP00000387042; ENSG00000152969. [Q96N16-5]
ENST00000409831; ENSP00000386925; ENSG00000152969. [Q96N16-1]
ENST00000410077; ENSP00000386745; ENSG00000152969. [Q96N16-7]
GeneIDi152789.
KEGGihsa:152789.
UCSCiuc003giu.5. human. [Q96N16-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AK295339 mRNA. Translation: BAG58310.1.
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.
CCDSiCCDS3385.1. [Q96N16-1]
CCDS47005.1. [Q96N16-2]
CCDS77897.1. [Q96N16-7]
RefSeqiNP_001092903.1. NM_001099433.1. [Q96N16-2]
NP_001293062.1. NM_001306133.1. [Q96N16-1]
NP_001293063.1. NM_001306134.1. [Q96N16-7]
NP_653321.1. NM_144720.3. [Q96N16-1]
XP_011511702.1. XM_011513400.2. [Q96N16-7]
XP_016863282.1. XM_017007793.1. [Q96N16-2]
UniGeneiHs.479066.

3D structure databases

ProteinModelPortaliQ96N16.
SMRiQ96N16.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127465. 1 interactor.
IntActiQ96N16. 3 interactors.
STRINGi9606.ENSP00000386711.

PTM databases

iPTMnetiQ96N16.
PhosphoSitePlusiQ96N16.

Polymorphism and mutation databases

BioMutaiJAKMIP1.
DMDMi74732477.

Proteomic databases

MaxQBiQ96N16.
PaxDbiQ96N16.
PeptideAtlasiQ96N16.
PRIDEiQ96N16.

Protocols and materials databases

DNASUi152789.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282924; ENSP00000282924; ENSG00000152969. [Q96N16-1]
ENST00000409021; ENSP00000386711; ENSG00000152969. [Q96N16-2]
ENST00000409371; ENSP00000387042; ENSG00000152969. [Q96N16-5]
ENST00000409831; ENSP00000386925; ENSG00000152969. [Q96N16-1]
ENST00000410077; ENSP00000386745; ENSG00000152969. [Q96N16-7]
GeneIDi152789.
KEGGihsa:152789.
UCSCiuc003giu.5. human. [Q96N16-1]

Organism-specific databases

CTDi152789.
DisGeNETi152789.
GeneCardsiJAKMIP1.
HGNCiHGNC:26460. JAKMIP1.
HPAiHPA044570.
MIMi611195. gene.
neXtProtiNX_Q96N16.
OpenTargetsiENSG00000152969.
PharmGKBiPA143485508.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II6X. Eukaryota.
ENOG4110F4A. LUCA.
GeneTreeiENSGT00390000002812.
HOGENOMiHOG000060161.
HOVERGENiHBG054249.
InParanoidiQ96N16.
OMAiMVELMGV.
OrthoDBiEOG091G024X.
PhylomeDBiQ96N16.
TreeFamiTF331900.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000152969-MONOMER.

Miscellaneous databases

GenomeRNAii152789.
PMAP-CutDBQ96N16.
PROiQ96N16.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152969.
CleanExiHS_JAKMIP1.
ExpressionAtlasiQ96N16. baseline and differential.
GenevisibleiQ96N16. HS.

Family and domain databases

InterProiIPR024836. JAKMIP.
IPR031994. JAKMIP_C.
[Graphical view]
PANTHERiPTHR18935. PTHR18935. 1 hit.
PfamiPF16034. JAKMIP_CC3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiJKIP1_HUMAN
AccessioniPrimary (citable) accession number: Q96N16
Secondary accession number(s): A6H2J2
, A6H2J3, A6H2J4, A6H2J5, A8MTK6, B4DHZ8, B8ZZR7, D3DVT0, Q86Y69, Q8N7G3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Caution

Was originally thought to bind single-stranded RNA molecules and regulate GABA-B receptor expression.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.