DISP1 - dispatched RND transporter family member 1 Gene

Also Known as DISPA

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 84976

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in diaphragm development IMP
IMP: Inferred from mutant phenotype
20799323 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DISP1 Protein Structure

Patched

Patched: Patched family (333 - 733)

Patched

Patched: Patched family (966 - 1101)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1524 a.a.
Protein Preferred Names Protein Names

protein dispatched homolog 1

  • dispatched A

DISP1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
DISP1 Q96F81 LAPTM5 Homo sapiens Q13571 25416956
Intra
DISP1 Q96F81 LAPTM5 Homo sapiens Q13571 25416956
Intra
DISP1 Q96F81 WFS1 Homo sapiens O76024 32814053
Intra
DISP1 Q96F81 WFS1 Homo sapiens O76024 32814053
Intra
DISP1 Q96F81 WFS1 Homo sapiens O76024 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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

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

生物種 Symbol 由来 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
Others DISP1 NCBI