ATRIP - ATR interacting protein Gene

Homo sapiens

Gene ID: 84126 | Gene type: protein coding

About ATRIP

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,446,737-48,467,645 (from NCBI)

This gene has 9 transcripts (splice variants), 120 orthologues and is associated with 1 phenotype. Broad expression in testis (RPKM 11.6), thyroid (RPKM 3.8) and 23 other tissues.

Summary

This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

ATRIP Products(4)

mRNA	Protein	Name
NM_001271022.2	NP_001257951.1	ATR-interacting protein isoform 3
NM_001271023.2	NP_001257952.1	ATR-interacting protein isoform 4
NM_032166.4	NP_115542.2	ATR-interacting protein isoform 2
NM_130384.3	NP_569055.1	ATR-interacting protein isoform 1

Protein Preferred Names

Protein Names

ATR-interacting protein

ATM and Rad3-related-interacting protein

Related Diseases

Diseases

Alias

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Aicardi-Goutieres Syndrome 1

AGS1	Ags
Cree Encephalitis	Pseudotoxoplasmosis Syndrome
Aicardi-Goutieres Syndrome 1, Dominant And Recessive	Pseudo-Torch Syndrome
Encephalopathy, Familial Infantile, With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis	Autosomal Dominant Aicardi-Goutieres Syndrome
Encephalopathy Familial Infantile With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis	Aicardi-Goutieres Syndrome, Type 1, Dominant And Recessive
Aicardi-Goutieres Syndrome 5

Chilblain Lupus 1

Chilblain Lupus	CHBL1
Chilblain Lupus Erythematosus	Chle
Hutchinson Lupus	Chilblain Lupus, Type 1

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Crv
Rvcl	Rvcl-S
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
Retinal Vasculopathy With Cerebral Leukodystrophy	Retinal Vasculopathy And Cerebral Leukoencephalopathy
Hereditary Vascular Retinopathy	Hvr
RVCLS	Cerebroretinal Vasculopathy, Hereditary
Cerebroretinal Vasculopathy	Herns
Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly	Hereditary Cerebroretinal Vasculopathy
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke	Hereditary Systemic Angiopathy
Hsa	Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations
Adrvcl	Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy
Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke	Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Seckel Syndrome 1

SCKL1	Nanocephalic Dwarfism
Microcephalic Primordial Dwarfism I	Seckel-Type Dwarfism
Bird-Headed Dwarfism	Sckl
Seckel Syndrome, Type 1	Seckel Syndrome

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Thrombotic Microangiopathy

Tma

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil	Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
Casil	Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
Familial Vascular Leukoencephalopathy	CADASIL1
Cadasil 1	Hereditary Multi-Infarct Dementia
Cadasil Syndrome	Dementia, Hereditary Multiinfarct Type
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1	Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy	Dementia, Hereditary Multi-Infarct Type
Hereditary Dementia, Multi-Infarct Type	Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1	Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant
Dementia Hereditary Multiinfarct Type	Dementia Hereditary Multi-Infarct Type
Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Familial Chilblain Lupus

Vascular Dementia

Dementia, Vascular	Multi Infarct Dementia
Multifocal Dementia	Dementia Vascular
Vascular Dementia, Susceptibility To	Dementia, Multi-Infarct
Multi-Infarct Dementia

Ataxia-Telangiectasia

Ataxia Telangiectasia	Louis-Bar Syndrome
AT	At1
Ataxia-Telangiectasia Syndrome	Ataxia - Telangiectasia Variant
Boder-Sedgwick Syndrome	Louis Bar Syndrome
Cerebello-Oculocutaneous Telangiectasia	Immunodeficiency With Ataxia Telangiectasia
A-T	Ataxia Telangiectasia Syndrome
Atm	Telangiectasia, Cerebello-Oculocutaneous
Ataxia-Telangiectasia Variant

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Autosomal Recessive Cerebellar Ataxia

Arca

Lig4 Syndrome

Dna Ligase Iv Deficiency	Ligase 4 Syndrome
LIG4S

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome	Ear, Patella, Short Stature Syndrome
Microtia, Absent Patellae, Micrognathia Syndrome	MGORS1
Eps	Ear-Patella-Short Stature Syndrome
Ear Patella Short Stature Syndrome	Microtia Absent Patellae Micrognathia Syndrome
Meier-Gorlin Syndrome, Type 1

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01249	ATRIP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ATRIP	VGNC	VGNC:49885
Macaca mulatta	ATRIP	VGNC	VGNC:84235
Mus musculus	ATRIP	MGD	MGI:1925349
Bos taurus	ATRIP	VGNC	VGNC:50170
Felis catus	ATRIP	VGNC	VGNC:69356

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