JAKMIP1 - janus kinase and microtubule interacting protein 1 Gene

Also Known as JAMIP1; MARLIN1; Gababrbp

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 152789

About JAKMIP1

Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:6,024,915-6,200,549 (from NCBI)

This gene has 20 transcripts (splice variants), 209 orthologues and 2 paralogues. Biased expression in brain (RPKM 7.6), testis (RPKM 1.5) and 4 other tissues.

Summary

Enables GABA Receptor binding activity and RNA binding activity. Involved in cognition. Is extrinsic component of membrane. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]

JAKMIP1 Products (4)

mRNA	Protein	Name
NM_001099433.2	NP_001092903.1	janus kinase and microtubule-interacting protein 1 isoform 1
NM_001306133.2	NP_001293062.1	janus kinase and microtubule-interacting protein 1 isoform 2
NM_001306134.2	NP_001293063.1	janus kinase and microtubule-interacting protein 1 isoform 3
NM_144720.4	NP_653321.1	janus kinase and microtubule-interacting protein 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GABA receptor binding	IDA IDA: Inferred from direct assay	14718537	GOA
enables RNA binding	IDA IDA: Inferred from direct assay	14718537	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17500595	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cognition	IMP IMP: Inferred from mutant phenotype	17519220	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	14718537	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	14718537	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
janus kinase and microtubule-interacting protein 1	GABA-B receptor-binding protein

JAKMIP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	JAKMIP1	Q96N16	P0DTD1-PRO_0000449630	SARS-CoV-2	P0DTD1-PRO_0000449630	Y2H Array	36217030
Intra	JAKMIP1	Q96N16	ZNHIT2	Homo sapiens	Q9UHR6	Validated Y2H	32296183
Intra	JAKMIP1	Q96N16	MRPL11	Homo sapiens	Q9Y3B7	Validated Y2H	32296183
Intra	JAKMIP1	Q96N16	CBX8	Homo sapiens	Q9HC52	Validated Y2H	32296183
Intra	JAKMIP1	Q96N16	ENKD1	Homo sapiens	Q9H0I2	Validated Y2H	32296183
Intra	JAKMIP1	Q96N16	SCNM1	Homo sapiens	Q9BWG6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Mrxs13 Lindsay-Burn Syndrome Ppm-X Ppm-X Syndrome Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism Mental Retardation, X-Linked, Syndromic 13 X-Linked Mental Retardation 79 X-Linked Mental Retardation With Spasticity Intellectual Deficit, X-Linked - Psychosis - Macroorchidism Intellectual Disability Psychosis Macroorchidism Intellectual Disability With Psychosis, Pyramidal Signs, And Macroorchidism Intellectual Disability, X-Linked, Syndromic 13 Ppmx X-Linked Mental Retardation, Syndromic 13
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
White-Sutton Syndrome	WHSUS Mrd37 Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome Mental Retardation, Autosomal Dominant 37 Autosomal Dominant Mental Retardation 37 Pogz-Related Intellectual Disability Syndrome
Syndromic X-Linked Intellectual Disability Najm Type	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Micpch X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07024	JAKMIP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	JAKMIP1	VGNC	VGNC:82388
Macaca mulatta	JAKMIP1	VGNC	VGNC:73662
Mus musculus	JAKMIP1	MGD	MGI:1923321
Rattus norvegicus	JAKMIP1	RGD	RGD:1562401
Bos taurus	JAKMIP1	VGNC	VGNC:30367
Canis familiaris	JAKMIP1	VGNC	VGNC:49832
Others	JAKMIP1	NCBI