Property Summary

NCBI Gene PubMed Count 37
PubMed Score 81.04
PubTator Score 115.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.009 9.4e-06
ovarian cancer -1.100 1.2e-05

Gene RIF (19)

PMID Text
25653285 data fully support that HAP1 is a GKAP, anchoring specifically to the cGMP-dependent protein kinase isoform Ibeta, and provide further evidence that also PKG spatiotemporal signaling is largely controlled by anchoring proteins
25446120 HAP1 gene expression is related to the radiosensitivity of breast cancer cells and may play an important role in the regulation of cellular radiosensitivity
25081373 The -141 T > G polymorphism, but not the 1349 T > G polymorphism, may have protective effects for lung cancer.
23440330 Overexpression of HAP1 reduced in vitro cell growth in breast cancer cell lines.
22731248 The results of this study suggested that HAP1 co-localizes and associates with APP in physiological conditions of mouse and human brain.
22698993 The results of this study found no association was found between the HAP1 T441M polymorphism and the age at onset of Huntington's disease .
22404213 Knockdown of huntingtin-associated protein 1 (HAP1) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells
21985783 WT HTT regulates ciliogenesis by interacting through huntingtin-associated protein 1 (HAP1) with pericentriolar material 1 protein (PCM1).
21386698 HAP1/stigmoid body interacts with the normal ataxin-3 through Josephin domain
21357693 sortilin stabilizes the proBDNF.HAP1 complex
20512606 ADORA2A, but not HAP1 or OGG1, may have a role in age at onset in Huntington's disease
20512606 Observational study of gene-disease association. (HuGE Navigator)
19996106 HAP1 may participate in axonal transport and activity-dependent release of pro-BDNF by interacting with the BDNF prodomain.
19262167 REVIEW: function of HAP1
18922795 REST/NRSF, dynactin p150(Glued), huntingtin, HAP1, and RILP form a complex involved in the translocation of REST/NRSF into the nucleus and HAP1 controls REST/NRSF cellular localization in neurons
18192679 Study provides genetic and functional evidence that the M441-HAP1 polymorphism modifies the age-at-onset of Huntington's disease .
18192679 Observational study of gene-disease association. (HuGE Navigator)
17569884 Observational study of gene-disease association. (HuGE Navigator)
15737634 The combination of siRNA, the SB transposon, and an accurate transgenic mouse model may permit evaluation of this approach in preventing the pathogenesis associated with expression of mutant Htt.

AA Sequence

MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQFLSEARTGARP      1 - 70
ASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRP     71 - 140
GVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQRERDLNTAARI    141 - 210
GQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQE    211 - 280
EEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLIL    281 - 350
ECVEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEKEIQM    351 - 420
QLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKTLRQQPPVSTGSATHYPYSVPLETLPGFQETLAEE    421 - 490
LRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEF    491 - 560
VPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQ    561 - 630
LANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR                                 631 - 671
//

Text Mined References (38)

PMID Year Title
25653285 2015 Huntingtin-associated protein 1 (HAP1) is a cGMP-dependent kinase anchoring protein (GKAP) specific for the cGMP-dependent protein kinase I? isoform.
25446120 2015 HAP1 gene expression is associated with radiosensitivity in breast cancer cells.
25081373 2014 Evaluating the association of polymorphisms in the HAP1 gene with lung cancer risk: a meta-analysis.
25074808 2014 Proteomic analysis of mammalian sperm cells identifies new components of the centrosome.
23532844 2013 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
23440330 2013 Huntingtin-associated protein 1: a potential biomarker of breast cancer.
22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
22731248 2012 Huntingtin associated protein 1 regulates trafficking of the amyloid precursor protein and modulates amyloid beta levels in neurons.
22698993 2012 Age at onset in Huntington's disease: replication study on the association of HAP1.
21985783 2011 Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease.
21386698 2011 Interaction of ataxin-3 with huntingtin-associated protein 1 through Josephin domain.
21357693 2011 Precursor of brain-derived neurotrophic factor (proBDNF) forms a complex with Huntingtin-associated protein-1 (HAP1) and sortilin that modulates proBDNF trafficking, degradation, and processing.
20515468 2010 pARIS-htt: an optimised expression platform to study huntingtin reveals functional domains required for vesicular trafficking.
20512606 2010 Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1.
19996106 2010 Huntingtin-associated protein-1 interacts with pro-brain-derived neurotrophic factor and mediates its transport and release.
19262167 Huntingtin associated protein 1 and its functions.
18922795 2008 Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued.
18192679 2008 Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease.
17569884 2007 A polymorphism in the protease-like domain of apolipoprotein(a) is associated with severe coronary artery disease.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
15737634 2005 Sleeping Beauty-mediated down-regulation of huntingtin expression by RNA interference.
15383276 2004 A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12881483 2003 Stimulation of NeuroD activity by huntingtin and huntingtin-associated proteins HAP1 and MLK2.
12021262 2002 Huntingtin-associated protein 1 interacts with hepatocyte growth factor-regulated tyrosine kinase substrate and functions in endosomal trafficking.
10974549 2000 Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism.
10087300 1999 Chromosomal localization of the Huntingtin associated protein (HAP-1) gene in mouse and humans with radiation hybrid and interspecific backcross mapping.
9798945 1998 Association of HAP1 isoforms with a unique cytoplasmic structure.
9742138 1998 The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human.
9668110 1998 A human HAP1 homologue. Cloning, expression, and interaction with huntingtin.
9599014 1998 HAP1-huntingtin interactions do not contribute to the molecular pathology in Huntington's disease transgenic mice.
9454836 1998 Interaction of huntingtin-associated protein with dynactin P150Glued.
9361024 1997 Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin.
7477378 1995 A huntingtin-associated protein enriched in brain with implications for pathology.