1. Gene
  2. DISP1 - dispatched RND transporter family member 1 Gene

DISP1 - dispatched RND transporter family member 1 Gene

中文名称:派遣 RND 转运蛋白家族成员 1

种属: Homo sapiens

同用名: DISPA

基因 ID: 84976 | 基因类型: protein coding

关于 DISP1

Cytogenetic location: 1q41 Genomic coordinates (GRCh38): 1:222,815,039-223,005,995 (from NCBI)

This gene has 26 transcripts (splice variants), 220 orthologues, 10 paralogues and is associated with 7 phenotypes. Broad expression in lung (RPKM 5.0), testis (RPKM 4.5) and 25 other tissues.

功能概要

导致胚胎结构正常发育的细胞增殖和分化模式通常取决于分泌蛋白信号的局部产生。特定信号源周围的细胞根据信号的有效浓度以分级方式响应,并且该响应产生构成成熟结构的细胞类型模式。已在果蝇中鉴定出一种称为 dispatched 的新型片段极性基因,其蛋白质产物是正常 Hedgehog (Hh) 信号传导所必需的。该基因是 Drosophila 派遣的两个人类同系物之一,并且基于与其小鼠对应物的序列同一性,编码的蛋白质可能在早期胚胎的 Hh 模式活动中发挥重要作用。[RefSeq 提供,2008 年 7 月]

The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008]

DISP1 基因产物(5)

mRNA Protein Name
NM_001350630.2 NP_001337559.1 protein dispatched homolog 1 isoform 2
NM_001369594.1 NP_001356523.1 protein dispatched homolog 1 isoform 1
NM_001377228.1 NP_001364157.1 protein dispatched homolog 1 isoform 1
NM_001377229.1 NP_001364158.1 protein dispatched homolog 1 isoform 1
NM_032890.5 NP_116279.2 protein dispatched homolog 1 isoform 1
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in diaphragm development IMP
IMP: 通过突变表型推断
20799323 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

DISP1 蛋白结构

Patched

Patched: Patched family (333 - 733)

Patched

Patched: Patched family (966 - 1101)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1524 a.a.
蛋白主名 其他名称

protein dispatched homolog 1

dispatched A

DISP1 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
DISP1 Q96F81 LAPTM5 Homo sapiens Q13571
Validated Y2H
25416956
种属内
DISP1 Q96F81 LAPTM5 Homo sapiens Q13571
Y2H Array
25416956
种属内
DISP1 Q96F81 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
种属内
DISP1 Q96F81 WFS1 Homo sapiens O76024
Validated Y2H
32814053
种属内
DISP1 Q96F81 WFS1 Homo sapiens O76024
Y2H Array
32814053
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
Microform Holoprosencephaly

Hpe, Minor Form

Hpe-L

Holoprosencephaly, Minor Form

Holoprosencephaly-Like

Microform Hpe

Septopreoptic Holoprosencephaly

Septopreoptic Hpe

Midline Interhemispheric Variant Of Holoprosencephaly

Mih

Mih Type Hpe

Mihf

Mihv

Middle Interhemispheric Fusion Variant

Middle Interhemispheric Variant Of Holoprosencephaly

Syntelencephaly

Lobar Holoprosencephaly
Alobar Holoprosencephaly
Semilobar Holoprosencephaly
Holoprosencephaly 9

Pituitary Anomalies With Holoprosencephaly-Like Features

HPE9

Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies

Holoprosencephaly-9

Holoprosencephaly, Type 9

Chromosome 1q41-Q42 Deletion Syndrome

1q41-Q42 Microdeletion Syndrome

1q41q42 Microdeletion Syndrome

Holoprosencephaly 10, Included

Hpe10, Included

1q41-Q42 Deletion Syndrome

Deletion 1q41-Q42

Monosomy 1q41-Q42

Del(1)(Q41q42)

Monosomy 1q41q42

Chromosome Deletion Syndrome 1q41-Q42

Holoprosencephaly 10

Chromosome 17q23.1-Q23.2 Deletion Syndrome

17q23.1q23.2 Microdeletion Syndrome

17q23.1-Q23.2 Microdeletion Syndrome

Del(17)(Q23.1q23.2)

Monosomy 17q23.1q23.2

Monosomy 17q23.1-Q23.2

Holoprosencephaly 7

HPE7

Holoprosencephaly-7

Holoprosencephaly, Type 7

Holoprosencephaly 4

HPE4

Holoprosencephaly-4

Holoprosencephaly, Type 4

Holoprosencephaly 8

HPE8

Holoprosencephaly-8

Holoprosencephaly 3

HPE3

Hlp3

Holoprosencephaly-3

Holoprosencephaly, Type 3

Microphthalmia, Syndromic 12

Microphthalmia With Or Without Pulmonary Hypoplasia, Diaphragmatic Hernia, And/Or Cardiac Defects

MCOPS12

Syndromic Microphthalmia 12

Syndromic Microphthalmia-12

Microphthalmia, Syndromic, 12

Microphthalmia, Syndromic, Type 12

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Solitary Median Maxillary Central Incisor

SMMCI

Fused Incisors

Single Upper Central Incisor

Single Central Maxillary Incisor

Single Median Maxillary Central Incisor

Solitary Median Maxillary Central Incisor Syndrome

Incisors Fused

Incisors, Fused

Progressive Myoclonus Epilepsy 1b

Epm1b

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome

Mcops7

Mls Syndrome

Microphthalmia, Syndromic 7

Microphthalmia With Linear Skin Defects Syndrome

Microphthalmia With Linear Skin Defects

Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome

Syndromic Microphthalmia Type 7

LSDMCA1

Mls

Microphthalmia, Dermal Aplasia, And Sclerocornea

Microphthalmia With Linear Skin Defect Syndrome

Syndromic Microphthalmia 7

Linear Skin Defects With Multiple Congenital Anomalies

Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome

Microphthalmia Dermal Aplasia And Sclerocornea Syndrome

Micropthalmia Syndromic 7

Microphthalmia Syndromic 7

Microphthalmia With Linear Skin Lesions Syndrome

Syndromic Microphthalmia-7

Microphthalmia, Dermal Aplasia And Sclerocornea

Microphthalmia, Syndromic, 7

Midas

Patau Syndrome

Trisomy 13

Complete Trisomy 13 Syndrome

Trisomy 13 Syndrome

D1 Trisomy

Patau'S Syndrome

Complete Trisomy 13

Chromosome 13, Trisomy 13 Complete

D Trisomy Syndrome

Bartholin-Patau Syndrome

Chromosome 13 Duplication

D1 Trisomy Syndrome

D>1< Trisomy Syndrome

Patau

Chromosome 13 Trisomy

Abnormal Autosomes 13

Obsessive-Compulsive Disorder

OCD

Obsessive-Compulsive Disorder, Susceptibility To

Anancastic Neurosis

Obsessive Compulsive Disorder

Anankastic Neurosis

Obsessive-Compulsive Neurosis

Obsessive Compulsive Behavior

Diaphragmatic Eventration
Diaphragm Disease

Abnormality Of The Diaphragm

Disease Of Diaphragm

Diaphragmatic Disorder

Disorder Of Diaphragm

Orofaciodigital Syndrome Viii

Edwards Syndrome

Trisomy 18

Complete Trisomy 18 Syndrome

OFD8

Orofaciodigital Syndrome 8

Trisomy 18 Syndrome

Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis

E3 Trisomy

Oral-Facial-Digital Syndrome Type 8

Orofaciodigital Syndrome Type 8

Ofds Viii

Oral-Facial-Digital Syndrome, Type Viii

Ofd Syndrome 8

Ofds 8

Oral Facial Digital Syndrome 8

Oral Facial Digital Syndrome Type 8

18 Trisomy

Chromosome 18 Trisomy

Trisomy 16-18

Trisomy E

Trisomy E Syndrome

Chromosome 18 Duplication

Oral-Facial-Digital Syndrome, Edwards Type

Orofaciodigital Syndrome, Edwards Type

Chromosome 18, Trisomy

Cleft Lip/Palate With Abnormal Thumbs And Microcephaly

Trisomy 18 Chromosome

Abnormal Autosomes 18

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

Cornelia De Lange Syndrome 1

De Lange Syndrome

CDLS1

Cdl

Cdls

Typus Degenerativus Amstelodamensis

Brachmann-De Lange Syndrome

Bdls

Amstelodamensis Typus Degenerativus

Cornelia De Lange Syndrome, Type 1

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion

Orofacial Cleft

Cleft, Orofacial

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Mus musculus DISP1 MGD MGI:1916147
Felis catus DISP1 VGNC VGNC:61502
Rattus norvegicus DISP1 RGD RGD:1307675
Canis familiaris DISP1 VGNC VGNC:39966
Macaca mulatta DISP1 VGNC VGNC:71675
Bos taurus DISP1 VGNC VGNC:108128