NP_060121.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
70,047 Da
NCBI Official Full Name
jouberin isoform a
NCBI Official Synonym Full Names
Abelson helper integration site 1
NCBI Protein Information
jouberin; contatins SH3 and WD40 domains; abelson helper integration site 1 protein homolog
UniProt Protein Name
Jouberin
UniProt Synonym Protein Names
Abelson helper integration site 1 protein homolog; AHI-1
UniProt Synonym Gene Names
UniProt Entry Name
AHI1_HUMAN
NCBI Summary for AHI1
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
UniProt Comments for AHI1
AHI1: is up-regulated at all stages of chronic myeloid leukemia (CML). Down-regulated during early differentiation of normal hematopoietic cells. The AHI-1 gene is activated by insertional mutagenesis in mouse models of leukemia. Important for cerebellar and cortical development, and axonal decussation. Mutations of the AHI-1 gene are associated with Joubert syndrome. Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Genetic analysis indicates that it is important in the development of human-specific motor behaviors. Three alternatively spliced isoforms have been described.
Protein type: Adaptor/scaffold
Chromosomal Location of Human Ortholog: 6q23.3
Cellular Component: centriole; centrosome; adherens junction; photoreceptor outer segment; nonmotile primary cilium; intercellular junction; cilium
Molecular Function: identical protein binding; protein binding
Biological Process: positive regulation of polarized epithelial cell differentiation; central nervous system development; vesicle targeting; positive regulation of receptor internalization; specification of axis polarity; vesicle-mediated transport; protein localization in organelle; cilium biogenesis; positive regulation of transcription from RNA polymerase II promoter; heart looping; morphogenesis of a polarized epithelium; transmembrane receptor protein tyrosine kinase signaling pathway; hindbrain development; negative regulation of apoptosis; regulation of behavior
Disease: Joubert Syndrome 3
Research Articles on AHI1
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Products associated with anti-AHI1 antibody
Diseases associated with anti-AHI1 antibody
Organs/Tissues associated with anti-AHI1 antibody
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