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  2. YIPF5 - Yip1 domain family member 5 Gene

YIPF5 - Yip1 domain family member 5 Gene

中文名称:Yip1 域家族成员 5

种属: Homo sapiens

同用名: MEDS2; SB140; SMAP5; YIP1A; SMAP-5; FinGER5

基因 ID: 81555 | 基因类型: protein coding

关于 YIPF5

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:144,158,162-144,170,659 (from NCBI)

This gene has 6 transcripts (splice variants), 214 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 14.2), thyroid (RPKM 12.3) and 25 other tissues.

功能概要

预计参与内质网至高尔基体小泡介导的转运;内质网对高尔基体囊泡介导的转运的调节;囊泡与高尔基体融合。位于高尔基体;内质网;和核质。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport; regulation of ER to Golgi vesicle-mediated transport; and vesicle fusion with Golgi apparatus. Located in Golgi apparatus; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

YIPF5 基因产物(3)

mRNA Protein Name
NM_001024947.4 NP_001020118.1 protein YIPF5 isoform a
NM_001271732.2 NP_001258661.1 protein YIPF5 isoform b
NM_030799.9 NP_110426.4 protein YIPF5 isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
23736259 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in insulin processing IMP
IMP: 通过突变表型推断
33164986 GOA
involved in regulation of ER to Golgi vesicle-mediated transport IMP
IMP: 通过突变表型推断
33164986 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

YIPF5 蛋白结构

Yip1

Yip1: Yip1 domain (97 - 228)

  • 0
  • 100
  • 200
  • 257 a.a.
蛋白主名 其他名称

protein YIPF5

YIP1 family member 5

YIPF5 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
种属内
YIPF5 Q969M3 YIF1A Homo sapiens O95070 32296183
种属内
YIPF5 Q969M3 YIF1A Homo sapiens O95070 26496610
种属内
YIPF5 Q969M3 YIF1A Homo sapiens O95070 32296183
种属内
YIPF5 Q969M3 YIF1A Homo sapiens O95070 35271311
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
Microcephaly, Epilepsy, And Diabetes Syndrome 2

MEDS2

Primary Microcephaly-Epilepsy-Permanent Neonatal Diabetes Syndrome
Spontaneous Ocular Nystagmus

Visual Deprivation Nystagmus

Ocular Nystagmus

Searching Eye Movements

Nystagmus, Pathologic

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Spinal Muscular Atrophy, Type Ii

SMA2

Sma Ii

Muscular Atrophy, Spinal, Intermediate Type

Muscular Atrophy, Spinal, Infantile Chronic Form

Intermediate Spinal Muscular Atrophy

Spinal Muscular Atrophy Type Ii

Spinal Muscular Atrophy-2

Spinal Muscular Atrophy 2

Spinal Muscular Atrophy Type 2

Dubowitz Disease

Proximal Spinal Muscular Atrophy Type 2

Sma Type 2

Sma Type Ii

Sma-Ii

Spinal Muscular Atrophy Infantile Chronic Form

Spinal Muscular Atrophy Intermediate Type

Spinal Muscular Atrophies Of Childhood

Atrophy, Muscular, Spinal, Type Ii

Muscular Atrophy, Spinal, Type Ii

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus

Wolcott-Rallison Syndrome

Med-Iddm Syndrome

Iddm-Med Syndrome

Wolcott Rallison Syndrome

WRS

Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

Permanent Neonatal Diabetes Mellitus

Pndm

Permanent Diabetes Mellitus Of Infancy

Pdmi

Neonatal Diabetes Mellitus, Permanent

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
Macaca mulatta YIPF5 VGNC VGNC:79461
Felis catus YIPF5 VGNC VGNC:67143
Canis familiaris YIPF5 VGNC VGNC:48491
Rattus norvegicus YIPF5 RGD RGD:1359165
Bos taurus YIPF5 VGNC VGNC:37027
Mus musculus YIPF5 MGD MGI:1914430