2. Gene
  3. MID1 - midline 1 Gene

MID1 - midline 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：中线 1

种属: Homo sapiens

同用名: OS; FXY; OSX; GBBB; OGS1; XPRF; BBBG1; GBBB1; MIDIN; RNF59; ZNFXY; TRIM18

基因 ID: 4281 | 基因类型: protein coding

关于 MID1

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:10,445,310-10,833,683 (from NCBI)

This gene has 23 transcripts (splice variants), 276 orthologues, 80 paralogues and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 2.5), urinary bladder (RPKM 2.3) and 24 other tissues.

功能概要

由该基因编码的蛋白质是三联基序 (TRIM) 家族的成员，也称为 RING 指蛋白的“RING-B 盒卷曲螺旋” (RBCC) 亚组。 TRIM 基序包括三个锌结合域、一个 RING、一个 B-box 类型 1 和一个 B-box 类型 2，以及一个卷曲螺旋区域。这种蛋白质形成同型二聚体，与细胞质中的微管结合。该蛋白质可能参与作为微管锚定点的多蛋白结构的形成。该基因的突变与 Opitz 综合征的 X 连锁形式有关，其特征是中线异常，例如唇裂、喉裂、心脏缺陷、尿道下裂和胼胝体发育不全。该基因也是人类 X 失活而在小鼠中逃逸的基因的第一个例子。替代启动子使用、替代剪接和替代聚腺苷酸化导致具有不同组织特异性的多种转录变体。[RefSeq 提供，2016 年 12 月]

The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

MID1 基因产物(9)

mRNA Protein Name
NM_000381.4 NP_000372.1 E3 ubiquitin-protein ligase Midline-1 isoform 1
NM_001098624.2 NP_001092094.1 E3 ubiquitin-protein ligase Midline-1 isoform 1
NM_001193277.1 NP_001180206.1 E3 ubiquitin-protein ligase Midline-1 isoform 1
NM_001193278.1 NP_001180207.1 E3 ubiquitin-protein ligase Midline-1 isoform 3
NM_001193279.1 NP_001180208.1 E3 ubiquitin-protein ligase Midline-1 isoform 4
NM_001193280.1 NP_001180209.1 E3 ubiquitin-protein ligase Midline-1 isoform 5
NM_001347733.2 NP_001334662.1 E3 ubiquitin-protein ligase Midline-1 isoform 1
NM_033289.2 NP_150631.1 E3 ubiquitin-protein ligase Midline-1 isoform 2
NM_033290.4 NP_150632.1 E3 ubiquitin-protein ligase Midline-1 isoform 1
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 enzyme binding IPI
IPI: 通过物理相互作用推断
11806752 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
22493164 GOA
enables microtubule binding IMP
IMP: 通过突变表型推断
11806752 GOA
enables phosphoprotein binding IPI
IPI: 通过物理相互作用推断
11806752 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19549727 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
11806752 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
17438131 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of stress-activated MAPK cascade IMP
IMP: 通过突变表型推断
17438131 GOA
involved in protein localization to microtubule IMP
IMP: 通过突变表型推断
11806752 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with cytoplasmic microtubule IDA
IDA: 通过直接分析推断
18949047 GOA
located in microtubule IDA
IDA: 通过直接分析推断
11806752 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

MID1 蛋白结构

zf-C3HC4_3

zf-C3HC4_3: Zinc finger, C3HC4 type (RING finger) (7 - 64)

zf-B_box

zf-B_box: B-box zinc finger (174 - 210)

fn3

fn3: Fibronectin type III domain (395 - 471)

PRY

PRY: SPRY-associated domain (487 - 525)

SPRY

SPRY: SPRY domain (538 - 651)

  • 0
  • 200
  • 400
  • 600
  • 667 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase Midline-1

Opitz/BBB syndrome

MID1 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
MID1 O15344 FLJ13057 Homo sapiens Q53SE7
Y2H Prey Pooling
25416956
种属内
MID1 O15344 MID2 Homo sapiens Q9UJV3-2
Y2H Prey Pooling
25416956
种属内
MID1 O15344 MID2 Homo sapiens Q9UJV3-2
Validated Y2H
25910212
种属内
MID1 O15344 MID2 Homo sapiens Q9UJV3-2
Y2H Bait-Prey Pool
25910212
种属内
MID1 O15344 MID2 Homo sapiens Q9UJV3-2
Y2H Array
25910212
种属内
MID1 O15344 MID2 Homo sapiens Q9UJV3-2
Validated Y2H
32296183
种属内
MID1 O15344 FKBP1A Homo sapiens Q0VDC6
Validated Y2H
25416956
种属内
MID1 O15344 FKBP1A Homo sapiens Q0VDC6
Validated Y2H
32296183
种属内
MID1 O15344 IGBP1 Homo sapiens P78318
Validated Y2H
32296183
种属内
MID1 O15344 IGBP1 Homo sapiens P78318
Anti Tag CoIP
33961781
种属内
MID1 O15344 IGBP1 Homo sapiens P78318
Y2H Array
32296183
种属内
MID1 O15344 IGBP1 Homo sapiens P78318
Y2H Prey Pooling
32296183
种属内
MID1 O15344 EPN2 Homo sapiens O95208-2
Validated Y2H
32296183
种属内
MID1 O15344 EPN2 Homo sapiens O95208-2
Y2H Array
32296183
种属内
MID1 O15344 EPN2 Homo sapiens O95208-2
Y2H Prey Pooling
32296183
种属内
MID1 O15344 PTCD2 Homo sapiens Q8WV60
Validated Y2H
32296183
种属内
MID1 O15344 EPN3 Homo sapiens I6L9I8
Y2H Array
32296183
种属内
MID1 O15344 EPN3 Homo sapiens I6L9I8
Y2H Prey Pooling
32296183
种属内
MID1 O15344 UBE2E2 Homo sapiens Q96LR5
Y2H Array
32296183
种属内
MID1 O15344 UBE2E2 Homo sapiens Q96LR5
Y2H Array
19549727
种属内
MID1 O15344 UBE2E2 Homo sapiens Q96LR5
Validated Y2H
25416956
种属内
MID1 O15344 UBE2E2 Homo sapiens Q96LR5
Y2H Prey Pooling
32296183
种属内
MID1 O15344 UBE2E2 Homo sapiens Q96LR5
Validated Y2H
32296183
种属内
MID1 O15344 CRY2 Homo sapiens Q49AN0
Validated Y2H
32296183
种属内
MID1 O15344 EHHADH Homo sapiens Q08426
Validated Y2H
32296183
种属内
MID1 O15344 EHHADH Homo sapiens Q08426
Y2H Array
31515488
种属内
MID1 O15344 EHHADH Homo sapiens Q08426
Y2H Prey Pooling
25416956
种属内
MID1 O15344 UBE2E3 Homo sapiens Q969T4
Y2H Array
19549727
种属内
MID1 O15344 UBE2E3 Homo sapiens Q969T4
Validated Y2H
32296183
种属内
MID1 O15344 UBE2D3 Homo sapiens P61077
Y2H Array
19549727
种属内
MID1 O15344 UBE2D3 Homo sapiens P61077
Validated Y2H
32296183
种属内
MID1 O15344 UBE2E3 Homo sapiens Q969T4
Y2H Array
31515488
种属内
MID1 O15344 UBE2D3 Homo sapiens P61077
Y2H Array
25416956
种属内
MID1 O15344 GMCL1 Homo sapiens Q96IK5
Validated Y2H
25910212
种属内
MID1 O15344 GMCL1 Homo sapiens Q96IK5
Y2H Array
31515488
种属内
MID1 O15344 GMCL1 Homo sapiens Q96IK5
Y2H Array
25910212
种属内
MID1 O15344 GMCL1 Homo sapiens Q96IK5
Y2H Prey Pooling
32296183
种属内
MID1 O15344 GMCL1 Homo sapiens Q96IK5
Validated Y2H
32296183
种属内
MID1 O15344 GMCL1 Homo sapiens Q96IK5
Y2H Bait-Prey Pool
25910212
种属内
MID1 O15344 GMCL1 Homo sapiens Q96IK5
Y2H Array
32296183
种属内
MID1 O15344 MEOX1 Homo sapiens P50221
Y2H Bait-Prey Pool
25910212
种属内
MID1 O15344 MEOX1 Homo sapiens P50221
Validated Y2H
25910212
种属内
MID1 O15344 MEOX1 Homo sapiens P50221
Y2H Array
25910212
种属内
MID1 O15344 CDC37 Homo sapiens Q16543
Validated Y2H
32296183
种属内
MID1 O15344 UBE2D2 Homo sapiens P62837
Y2H Array
19549727
种属内
MID1 O15344 UBE2D2 Homo sapiens P62837
Validated Y2H
32296183
种属内
MID1 O15344 BYSL Homo sapiens Q13895
Y2H Array
25416956
种属内
MID1 O15344 DYRK4 Homo sapiens Q9NR20
Y2H Prey Pooling
25416956
种属内
MID1 O15344 UBE2K Homo sapiens P61086
Validated Y2H
32296183
种属内
MID1 O15344 N4BP1 Homo sapiens O75113
Validated Y2H
32296183
种属内
MID1 O15344 N4BP1 Homo sapiens O75113
Y2H Prey Pooling
32296183
种属内
MID1 O15344 N4BP1 Homo sapiens O75113
Y2H Array
32296183
种属内
MID1 O15344 PKN1 Homo sapiens Q16512
Validated Y2H
25416956
种属内
MID1 O15344 PKN1 Homo sapiens Q16512
Y2H Prey Pooling
25416956
种属内
MID1 O15344 ZNF618 Homo sapiens Q5T7W0
Y2H Prey Pooling
32296183
种属内
MID1 O15344 ZNF618 Homo sapiens Q5T7W0
Y2H Array
32296183
种属内
MID1 O15344 ZNF618 Homo sapiens Q5T7W0
Validated Y2H
32296183
种属内
MID1 O15344 UBE2L3 Homo sapiens P68036
Y2H Array
19549727
种属内
MID1 O15344 UBE2L3 Homo sapiens P68036
Validated Y2H
32296183
种属内
MID1 O15344 ELOA Homo sapiens Q14241
Validated Y2H
32296183
种属内
MID1 O15344 FAM50B Homo sapiens Q9Y247
Validated Y2H
32296183
种属内
MID1 O15344 UBE2D1 Homo sapiens P51668
Y2H Prey Pooling
25416956
种属内
MID1 O15344 UBE2D1 Homo sapiens P51668
Y2H Array
19549727
种属内
MID1 O15344 UBE2D1 Homo sapiens P51668
Validated Y2H
32296183
种属内
MID1 O15344 UBE2D4 Homo sapiens Q9Y2X8
Validated Y2H
32296183
种属内
MID1 O15344 UBE2D4 Homo sapiens Q9Y2X8
Y2H Array
19549727
种属内
MID1 O15344 UBTD1 Homo sapiens Q9HAC8
Y2H Array
25416956
种属内
MID1 O15344 UBTD1 Homo sapiens Q9HAC8
Validated Y2H
25416956
种属内
MID1 O15344 UBTD1 Homo sapiens Q9HAC8
Y2H Prey Pooling
25416956
种属内
MID1 O15344 UBTD1 Homo sapiens Q9HAC8
Validated Y2H
32296183
种属内
MID1 O15344 OTUB2 Homo sapiens Q96DC9
Validated Y2H
25416956
种属内
MID1 O15344 OTUB2 Homo sapiens Q96DC9
Y2H Array
25416956
种属内
MID1 O15344 KIF9 Homo sapiens Q9HAQ2
Validated Y2H
32296183
种属内
MID1 O15344 TCEANC Homo sapiens Q8N8B7
Y2H Prey Pooling
25416956
种属内
MID1 O15344 TCEANC Homo sapiens Q8N8B7
Validated Y2H
25416956
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
Opitz Gbbb Syndrome

Opitz G/Bbb Syndrome

Opitz Syndrome

Hypertelorism-Hypospadias Syndrome

Hypertelorism With Esophageal Abnormality And Hypospadias

Opitz-Frias Syndrome

Os

Osx

Telecanthus-Hypospadias Syndrome

Opitz Gbbb Syndrome Type I

Opitz Bbbg Syndrome

Hypospadias-Dysphagia Syndrome

Opitz Bbb/G Syndrome

GBBB

Opitz Gbbb Syndrome, X-Linked

Opitz Syndrome, X-Linked

Opitz Gbbb Syndrome, Type I, Formerly

Gbbb1, Formerly

Opitz-G Syndrome, Type I, Formerly

Ogs1, Formerly

Opitz Bbbg Syndrome, Type I, Formerly

Bbbg1, Formerly

Bbb Syndrome

G Syndrome

Gbbb Syndrome

Hypertelorism Hypospadias Syndrome

Hypospadias-Dysphagia, Syndrome

Opitz-G Syndrome, Type 2

Telecanthus With Associated Abnormalities

Hypertelorism With Esophageal Abnormalities And Hypospadias

Hypertelorism-Hypospadias Sydrome

Opitz Bbb Syndrome

Opitz G Syndrome

Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome

Opitz Gbbb Syndrome 1

GBBB1

Bbbg1

Gggb1

Opitz Bbbg Syndrome Type I

Opitz Gbbb Syndrome X-Linked

Opitz-G Syndrome Type I

Opitz Syndrome X-Linked

Opitz G Syndrome, Type I

Opitz Bbbg Syndrome, Type I
X-Linked Opitz G/Bbb Syndrome

Opitz Syndrome, X-Linked

Xlos
Dandy-Walker Syndrome

Dandy-Walker Malformation

DWS

Atresia Of Foramina Of Magendie And Luschka

Dandy-Walker Complex

Dandy-Walker Cyst

Dandy-Walker Deformity

Dandy Walker Cyst

Dw Complex

Dandy-Walker Syndrome Or Malformation

Dandy-Walker Variant

Mega Cisterna Magna

Dwm

Hydrocephalus, Internal, Dandy-Walker Type

Hydrocephalus, Noncommunicating, Dandy-Walker Type

Luschka-Magendie Foramina Atresia

Isolated Dandy-Walker Malformation

Mega-Cisterna Magna

Dandy Walker Variant

Atresia Of Foramen Of Luschka

Atresia Of Foramen Of Magendie

Congenital Blockage Of Foramen Magendie
Hypospadias

Hypospadias Familial

Familial Hypospadias
Cleft Lip

Cheiloschisis

Labium Leporinum

Cleft Lip, Unilateral, Complete

Complete Unilateral Cleft Lip

Hare Lip

Congenital Fissure Of Lip

Isolated Cleft Lip

Cleft Lip Without Cleft Palate

Cleft Lip Without Cleft Palate, Unilateral

Isolated Cleft Lip, Unilateral

Cleft Lip Without Cleft Palate, Bilateral

Isolated Cleft Lip, Bilateral
Laryngeal Cleft

Lc

Ltec

Laryngo-Tracheo-Esophageal Cleft

Laryngo-Tracheo-Esophageal Diastema

Laryngotracheoesophageal Cleft

Anterior Submucous Laryngeal Cleft

Laryngotracheal Cleft

Posterior Laryngeal Cleft
Non-Syndromic X-Linked Intellectual Disability 101

Mrx101

X-Linked Mental Retardation 101
Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive
Cleft Lip/Palate

Cleft Lip And Palate

Alveolar Cleft Lip And Palate

Cleft Lip-Alveolus-Palate Syndrome

Flp
Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey
Retinitis Pigmentosa 34

RP34
Neuronopathy, Distal Hereditary Motor, Type Iid

HMN2D

Hmn Iid

Dhmn2d

Distal Hereditary Motor Neuronopathy Type 2d

Distal Hereditary Motor Neuropathy Type Iid

Neuronopathy, Distal Hereditary Motor, Type 2d

Neuropathy, Distal Hereditary Motor, Type Iid

Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant

Distal Spinal Muscular Atrophy With Calf Predominance

Neuronopathy, Distal Hereditary Motor, 2d

Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant

Dhmn Iid

Neuropathy, Motor, Distal, Hereditary, Type 2d
Ankyloglossia With Or Without Tooth Anomalies

Ankyloglossia

ANKG

'Tongue-Tie'

Tongue-Tie

Tongue Tie

Aberrant Insertion Of Labial Frenulum

Aberrant Insertion Of Frenum Of Tongue

Short Frenulum Linguae

Short Frenulum Of Tongue
Anus, Imperforate

Imperforate Anus

Anorectal Malformation

Anal Atresia

Anorectal Malformations

Congenital Atresia Of Anus

Congenital Or Infantile Occlusion Of Anus

Anal Stenosis

Arm
Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii

Distal Hereditary Motor Neuropathy Type 2

Distal Hereditary Motor Neuropathy Type Ii

Hmn Ii

Hmn2

Distal Hereditary Motor Neuronopathy, Type Ii

Distal Spinal Muscular Atrophy Type 2

Dhmn2

Dsma2

Neuropathy, Motor, Distal, Hereditary, Type Ii

Spinal Muscular Atrophy, Jerash Type
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate
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

相关产品

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-115461 MID-1 Inhibitor 99.36% Phase 2
Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08434 MID1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS08435 MID1IP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus MID1 MGD MGI:1100537
Bos taurus MID1 VGNC VGNC:31464
Canis familiaris MID1 VGNC VGNC:43222
Rattus norvegicus MID1 RGD RGD:2640
Macaca mulatta MID1 VGNC VGNC:74721
Felis catus MID1 VGNC VGNC:68255
Others MID1 NCBI
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