GIT1 - GIT ArfGAP 1 Gene

Homo sapiens

Also known as p95-APP1

Gene ID: 28964 | Gene type: protein coding

About GIT1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:29,573,475-29,589,648 (from NCBI)

This gene has 15 transcripts (splice variants), 198 orthologues and 28 paralogues. Broad expression in testis (RPKM 58.9), brain (RPKM 28.4) and 23 other tissues.

Summary

Enables gamma-tubulin binding activity. Involved in positive regulation of microtubule nucleation and regulation of cytokinesis. Located in several cellular components, including focal adhesion; microtubule cytoskeleton; and mitochondrion. Implicated in attention deficit hyperactivity disorder. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Apr 2022]

GIT1 Products(2)

mRNA	Protein	Name
NM_001085454.2	NP_001078923.1	ARF GTPase-activating protein GIT1 isoform 1
NM_014030.4	NP_054749.2	ARF GTPase-activating protein GIT1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables gamma-tubulin binding	IDA IDA: Inferred from direct assay	27012601	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15182672	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of microtubule nucleation	IMP IMP: Inferred from mutant phenotype	27012601	GOA
involved in regulation of cytokinesis	IDA IDA: Inferred from direct assay	23108400	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centrosome	IDA IDA: Inferred from direct assay	27012601	GOA
located in mitotic spindle pole	IDA IDA: Inferred from direct assay	27012601	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

GIT1 Protein Structure

ArfGap

Ank_2

GIT_SHD

GIT1_C

0
200
400
600
761 a.a.

Protein Preferred Names

Protein Names

ARF GTPase-activating protein GIT1

ARF GAP GIT1

Related Diseases

Diseases

Alias

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Progressive Myoclonus Epilepsy 7

Epm7	Meak
Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation	Pme Type 7
Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency	Progressive Myoclonus Epilepsy Type 7

Blind Loop Syndrome

Bacterial Overgrowth Syndrome

Pneumatosis Cystoides Intestinalis

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-152095	PPI-GIT1/β-Pix interaction-IN-1	Inhibitor	99.01%	Unkown
HY-RS05438	GIT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GIT1	VGNC	VGNC:62560
Macaca mulatta	GIT1	VGNC	VGNC:73053
Mus musculus	GIT1	MGD	MGI:1927140
Canis familiaris	GIT1	VGNC	VGNC:41229
Rattus norvegicus	GIT1	RGD	RGD:69331
Bos taurus	GIT1	VGNC	VGNC:29368

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