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

JAKMIP1 - janus kinase and microtubule interacting protein 1 Gene

中文名称:janus 激酶和微管相互作用蛋白 1

种属: Homo sapiens

同用名: JAMIP1; MARLIN1; Gababrbp

基因 ID: 152789 | 基因类型: protein coding

关于 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.

功能概要

启用 GABA 受体结合活性和 RNA 结合活性。参与认知。是膜的外在成分。核糖核蛋白复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GABA receptor binding IDA
IDA: 通过直接分析推断
14718537 GOA
enables RNA binding IDA
IDA: 通过直接分析推断
14718537 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17500595 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cognition IMP
IMP: 通过突变表型推断
17519220 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
14718537 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
14718537 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

janus kinase and microtubule-interacting protein 1

GABA-B receptor-binding protein

JAKMIP1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
JAKMIP1 Q96N16 P0DTD1-PRO_0000449630 SARS-CoV-2 P0DTD1-PRO_0000449630
Y2H Array
36217030
种属内
JAKMIP1 Q96N16 ZNHIT2 Homo sapiens Q9UHR6
Validated Y2H
32296183
种属内
JAKMIP1 Q96N16 MRPL11 Homo sapiens Q9Y3B7
Validated Y2H
32296183
种属内
JAKMIP1 Q96N16 CBX8 Homo sapiens Q9HC52
Validated Y2H
32296183
种属内
JAKMIP1 Q96N16 ENKD1 Homo sapiens Q9H0I2
Validated Y2H
32296183
种属内
JAKMIP1 Q96N16 SCNM1 Homo sapiens Q9BWG6
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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