1. Gene
  2. GIT1 - GIT ArfGAP 1 Gene

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

GIT1 Protein Structure

ArfGap

ArfGap: Putative GTPase activating protein for Arf (5 - 118)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (137 - 226)

GIT_SHD

GIT_SHD: Spa2 homology domain (SHD) of GIT (264 - 294)

GIT_SHD

GIT_SHD: Spa2 homology domain (SHD) of GIT (328 - 357)

GIT1_C

GIT1_C: G protein-coupled receptor kinase-interacting protein 1 C term (633 - 756)

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  • 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

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