HAP1 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of HAP1 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of HAP1 at tissue level.

III. Associated gene sets

GO_0008090Biological processretrograde axonal transport
GO_0048011Biological processneurotrophin TRK receptor signaling pathway
GO_0008089Biological processanterograde axonal transport
GO_1902430Biological processnegative regulation of amyloid-beta formation
GO_0048311Biological processmitochondrion distribution
GO_0050769Biological processpositive regulation of neurogenesis
GO_0017157Biological processregulation of exocytosis
GO_0021979Biological processhypothalamus cell differentiation
GO_0030030Biological processcell projection organization
GO_0006605Biological processprotein targeting
GO_0031587Biological processpositive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO_0032901Biological processpositive regulation of neurotrophin production
GO_0098957Biological processanterograde axonal transport of mitochondrion
GO_0045742Biological processpositive regulation of epidermal growth factor receptor signaling pathway
GO_0022008Biological processneurogenesis
GO_0006887Biological processexocytosis
GO_0007268Biological processchemical synaptic transmission
GO_0021549Biological processcerebellum development
GO_0007420Biological processbrain development
GO_1902857Biological processpositive regulation of non-motile cilium assembly
GO_0015031Biological processprotein transport
GO_0006914Biological processautophagy
GO_0008104Biological processprotein localization
GO_0032230Biological processpositive regulation of synaptic transmission, GABAergic
GO_1902513Biological processregulation of organelle transport along microtubule
GO_0047496Biological processvesicle transport along microtubule
GO_0005730Cellular componentnucleolus
GO_0005856Cellular componentcytoskeleton
GO_0031410Cellular componentcytoplasmic vesicle
GO_0043197Cellular componentdendritic spine
GO_0005739Cellular componentmitochondrion
GO_0005769Cellular componentearly endosome
GO_0005813Cellular componentcentrosome
GO_0005764Cellular componentlysosome
GO_0030425Cellular componentdendrite
GO_0005814Cellular componentcentriole
GO_0016234Cellular componentinclusion body
GO_0015629Cellular componentactin cytoskeleton
GO_0005783Cellular componentendoplasmic reticulum
GO_0005829Cellular componentcytosol
GO_0008021Cellular componentsynaptic vesicle
GO_0030426Cellular componentgrowth cone
GO_0005776Cellular componentautophagosome
GO_1904115Cellular componentaxon cytoplasm
GO_0017022Molecular functionmyosin binding
GO_0048403Molecular functionbrain-derived neurotrophic factor binding
GO_0005102Molecular functionsignaling receptor binding
GO_0044325Molecular functiontransmembrane transporter binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameHAP1
Protein nameHuntingtin-associated protein 1 (HAP-1) (Neuroan 1)
Huntingtin associated protein 1
SynonymsHAP2
HLP1
DescriptionFUNCTION: Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to facilitate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17). .

AccessionsH7C295
ENST00000442364.1
ENST00000393939.6 [P54257-3]
ENST00000455021.5
P54257
ENST00000458656.5
ENST00000347901.9 [P54257-2]
H7C0W9
H7BZC9
ENST00000310778.5 [P54257-1]
ENST00000341193.9 [P54257-4]