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  2. NISCH - nischarin Gene

NISCH - nischarin Gene

Homo sapiens

Also known as I-1; IR1; IRAS; hIRAS

Gene ID: 11188 | Gene type: protein coding

About NISCH

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:52,455,604-52,493,068 (from NCBI)

This gene has 14 transcripts (splice variants), 210 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 30.5), prostate (RPKM 22.8) and 25 other tissues.

Summary

This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 Integrin. In humans, this protein has been shown to bind to the adapter Insulin Receptor substrate 4 (IRS4) to mediate translocation of alpha-5 Integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 Integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional Imidazoline Receptor. [provided by RefSeq, Jan 2013]

NISCH Products(3)

mRNA Protein Name
NM_001276293.2 NP_001263222.2 nischarin isoform 2
NM_001276294.2 NP_001263223.2 nischarin isoform 3
NM_007184.4 NP_009115.3 nischarin isoform 1

NISCH Protein Structure

PX

PX: PX domain (20 - 117)

LRR_8

LRR_8: Leucine rich repeat (289 - 344)

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  • 1504 a.a.
Protein Preferred Names Protein Names

nischarin

I-1 receptor candidate protein

Related Diseases

Diseases Alias
Aplasia Of Lacrimal And Salivary Glands

ALSG

Congenital Absence Of Lacrimal Puncta And Salivary Glands

Xerostomia

Absence Of Salivary Glands

Parotid Aplasia Or Hypoplasia

Congenital Absence Of Lacrimal Puncta Or Salivary Glands

Alsg - [Aplasia Of Lacrimal Or Salivary Glands]

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Sclerosing Cholangitis

Fibrosing Cholangitis

Cholangitis, Sclerosing

Primary Sclerosing Cholangitis

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

Species Symbol Source ID
Bos taurus NISCH VGNC VGNC:32088
Rattus norvegicus NISCH RGD RGD:1306950
Felis catus NISCH VGNC VGNC:80640
Mus musculus NISCH MGD MGI:1928323
Canis familiaris NISCH VGNC VGNC:43822
Macaca mulatta NISCH VGNC VGNC:84147