1. Gene
  2. JAKMIP1 - janus kinase and microtubule interacting protein 1 Gene

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
Protein Preferred Names Protein Names

janus kinase and microtubule-interacting protein 1

GABA-B receptor-binding protein

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

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