Jakmip1 janus kinase and microtubule interacting protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Jakmip1provided by MGI
Official Full Name: janus kinase and microtubule interacting protein 1provided by MGI
Primary source: MGI:MGI:1923321
See related: Ensembl:ENSMUSG00000063646 AllianceGenome:MGI:1923321
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gababrbp; Marlin-1; 5830437M04Rik; C330021K24Rik
Summary: Enables kinesin binding activity. Predicted to be involved in cognition. Predicted to be located in membrane and microtubule cytoskeleton. Predicted to be part of ribonucleoprotein complex. Is expressed in cortical plate and embryo. Used to study autism spectrum disorder. Orthologous to human JAKMIP1 (janus kinase and microtubule interacting protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in cortex adult (RPKM 6.5), CNS E18 (RPKM 6.0) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 19.66 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (37182424..37307958)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (37025852..37150614)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

JAKMIP1 loss dysregulates neuronal translation during synaptic development and results in social deficits and other autistic-like behaviors.
Title: JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.
Marlin-1 is enriched in restricted areas of the brain including olfactory bulb, cerebral cortex, hippocampus and cerebellum; it is abundant in dendrites and axons of hippocampal neurons, associated with microtubules at the ultrastructural level.
Title: Cellular and subcellular localization of Marlin-1 in the brain.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GABA receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables GABA receptor binding	ISO Inferred from Sequence Orthology more info	PubMed
enables RNA binding	ISO Inferred from Sequence Orthology more info	PubMed
enables kinase binding	IEA Inferred from Electronic Annotation more info
enables kinesin binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cognition	ISO Inferred from Sequence Orthology more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
part_of ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: janus kinase and microtubule-interacting protein 1

Names: GABA-B receptor-binding protein; gamma-aminobutyric acid (GABA-B) receptor binding protein; multiple alpha-helices and RNA-linker protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001347348.2 → NP_001334277.1 janus kinase and microtubule-interacting protein 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC110238, AC115722

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 612

JAKMIP_CC3; JAKMIP CC3 domain
NM_001401053.1 → NP_001387982.1 janus kinase and microtubule-interacting protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC110238, AC115722
NM_001401054.1 → NP_001387983.1 janus kinase and microtubule-interacting protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC110238, AC115722
NM_001401055.1 → NP_001387984.1 janus kinase and microtubule-interacting protein 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC110238, AC115722

UniProtKB/TrEMBL

D3Z4U5

Related

ENSMUSP00000113624.3, ENSMUST00000121010.9
NM_001401056.1 → NP_001387985.1 janus kinase and microtubule-interacting protein 1 isoform 6

Status: VALIDATED

Source sequence(s)

AC110238, AC115722
NM_178394.4 → NP_848481.2 janus kinase and microtubule-interacting protein 1 isoform 2

See identical proteins and their annotated locations for NP_848481.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AK077298, BC138649, BM900067, BY092450

Consensus CDS

CCDS19246.1

UniProtKB/Swiss-Prot

B2RS01, Q8BVL9

Related

ENSMUSP00000038504.5, ENSMUST00000043794.11

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 604

JAKMIP_CC3; JAKMIP CC3 domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

37182424..37307958

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240784.4 → XP_011239086.1 janus kinase and microtubule-interacting protein 1 isoform X1

See identical proteins and their annotated locations for XP_011239086.1

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 612

JAKMIP_CC3; JAKMIP CC3 domain
XM_011240789.4 → XP_011239091.1 janus kinase and microtubule-interacting protein 1 isoform X2

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 612

JAKMIP_CC3; JAKMIP CC3 domain
XM_036165590.1 → XP_036021483.1 janus kinase and microtubule-interacting protein 1 isoform X7

Conserved Domains (2) summary

TIGR02169
Location:6 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:416 → 612

JAKMIP_CC3; JAKMIP CC3 domain
XM_011240791.4 → XP_011239093.1 janus kinase and microtubule-interacting protein 1 isoform X8

Conserved Domains (3) summary

TIGR02168
Location:473 → 779

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 612

JAKMIP_CC3; JAKMIP CC3 domain
XM_011240788.4 → XP_011239090.1 janus kinase and microtubule-interacting protein 1 isoform X1

See identical proteins and their annotated locations for XP_011239090.1

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 612

JAKMIP_CC3; JAKMIP CC3 domain
XM_017321139.3 → XP_017176628.1 janus kinase and microtubule-interacting protein 1 isoform X9

UniProtKB/Swiss-Prot

B2RS01, Q8BVL9

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 604

JAKMIP_CC3; JAKMIP CC3 domain
XM_011240787.4 → XP_011239089.1 janus kinase and microtubule-interacting protein 1 isoform X1

See identical proteins and their annotated locations for XP_011239089.1

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 612

JAKMIP_CC3; JAKMIP CC3 domain
XM_011240786.4 → XP_011239088.1 janus kinase and microtubule-interacting protein 1 isoform X1

See identical proteins and their annotated locations for XP_011239088.1

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 612

JAKMIP_CC3; JAKMIP CC3 domain
XM_017321138.3 → XP_017176627.1 janus kinase and microtubule-interacting protein 1 isoform X1

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 612

JAKMIP_CC3; JAKMIP CC3 domain
XM_017321137.3 → XP_017176626.1 janus kinase and microtubule-interacting protein 1 isoform X1

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 612

JAKMIP_CC3; JAKMIP CC3 domain
XM_011240785.3 → XP_011239087.1 janus kinase and microtubule-interacting protein 1 isoform X1

See identical proteins and their annotated locations for XP_011239087.1

Conserved Domains (2) summary

TIGR02169
Location:56 → 363

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam16034
Location:415 → 612

JAKMIP_CC3; JAKMIP CC3 domain