JAKMIP1 - janus kinase and microtubule interacting protein 1 Gene

Homo sapiens

Also known as JAMIP1; MARLIN1; Gababrbp

Gene ID: 152789 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in cognition	IMP IMP: Inferred from mutant phenotype	17519220	GOA

Cellular Component GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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