Hap1 huntingtin-associated protein 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Hap1provided by RGD
Official Full Name: huntingtin-associated protein 1provided by RGD
Primary source: RGD:68327
See related: EnsemblRapid:ENSRNOG00000014819 AllianceGenome:RGD:68327
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: HAP1-A; HAP1-B
Summary: Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that is homologous to the human huntingtin-associated protein 1. The human protein interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Two transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression: Biased expression in Brain (RPKM 163.9), Thymus (RPKM 48.7) and 3 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q31

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (85778267..85786553, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (85277890..85286126, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (88257975..88266210, complement)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HAP1 interacts with 14-3-3 to regulate epileptic seizure via GABAAR-mediated inhibitory synaptic transmission in pentylenetetrazole rat model.
Title: HAP1 interacts with 14-3-3 to regulate epileptic seizure via GABA(A)R-mediated inhibitory synaptic transmission in pentylenetetrazole rat model.
Immunohistochemical relationships of huntingtin-associated protein 1 with enteroendocrine cells in the pyloric mucosa of the rat stomach.
Title: Immunohistochemical relationships of huntingtin-associated protein 1 with enteroendocrine cells in the pyloric mucosa of the rat stomach.
A key role for HAP1 protein was determined in the down-regulation Of GABA A receptor neurotransmission during cerebral ischemia.
Title: Downregulation of GABA(A) Receptor Recycling Mediated by HAP1 Contributes to Neuronal Death in In Vitro Brain Ischemia.
Study demonstrated that HAP1 is abundantly expressed in spinal neurons of the somatosensory, viscerosensory, and autonomic regions but absent in somatomotor neurons, suggesting that the spinal motoneurons are, due to lack of putative HAP1 protectivity, more vulnerable to stresses in neurodegenerative diseases than other HAP1-expressing neurons probably involved in spinal sensory and autonomic functions.
Title: Immunohistochemical analysis of huntingtin-associated protein 1 in adult rat spinal cord and its regional relationship with androgen receptor.
results provide real-time evidence in living cells that HAP1 may help regulate transport of insulin-containing secretory granules along cortical actin filaments
Title: HAP1 helps to regulate actin-based transport of insulin-containing granules in pancreatic β cells.
sortilin stabilizes the proBDNF.HAP1 complex
Title: 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.
Data suggest that HAP1-KIF5-dependent GABA(A)R trafficking is a fundamental mechanism controlling the strength of synaptic inhibition in the brain.
Title: Delivery of GABAARs to synapses is mediated by HAP1-KIF5 and disrupted by mutant huntingtin.
HAP1 is selectively expressed in beta-cells of rat pancreatic islets, suggesting the involvement of HAP1 in the regulation of cellular trafficking and secretion of insulin.
Title: Selective expression of Huntingtin-associated protein 1 in {beta}-cells of the rat pancreatic islets.
HAP1-induced/immunoreactive inclusions correspond to the human placental antigen complex X-P-immunoreactive stigmoid bodies previously identified in the brain
Title: Anti-human placental antigen complex X-P2 (hPAX-P2) anti-serum recognizes C-terminus of huntingtin-associated protein 1A common to 1B as a determinant marker for the stigmoid body.
HAP1 trafficking is critical for the stability of TrkA and neurite function, both of which can be attenuated by mutant huntingtin.
Title: Regulation of intracellular trafficking of huntingtin-associated protein-1 is critical for TrkA protein levels and neurite outgrowth.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH132191 (e-PCR)
- UniSTS:215474

Hap1 (e-PCR), detects polymorphism
- UniSTS:507347

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables brain-derived neurotrophic factor binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables myosin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	IEA Inferred from Electronic Annotation more info
involved_in anterograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anterograde axonal transport	ISO Inferred from Sequence Orthology more info
involved_in anterograde axonal transport of mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cerebellum development	IEA Inferred from Electronic Annotation more info
involved_in cerebellum development	ISO Inferred from Sequence Orthology more info
involved_in early endosome to late endosome transport	TAS Traceable Author Statement more info	PubMed
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
involved_in hypothalamus cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in hypothalamus cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion distribution	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotrophin TRK receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotrophin TRK receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in neurotrophin TRK receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in neurotrophin TRK receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of inclusion body assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neurogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neurotrophin production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neurotrophin production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of non-motile cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synaptic transmission, GABAergic	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of synaptic transmission, GABAergic	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein targeting	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of exocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of exocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of organelle transport along microtubule	IEA Inferred from Electronic Annotation more info
involved_in regulation of organelle transport along microtubule	ISO Inferred from Sequence Orthology more info
involved_in regulation of organelle transport along microtubule	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle transport along microtubule	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle transport along microtubule	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within vesicle transport along microtubule	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in autophagosome	ISO Inferred from Sequence Orthology more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in axon terminus	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centriole	ISO Inferred from Sequence Orthology more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in early endosome	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in inclusion body	IEA Inferred from Electronic Annotation more info
located_in inclusion body	ISO Inferred from Sequence Orthology more info
located_in late endosome	TAS Traceable Author Statement more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: huntingtin-associated protein 1

Names: HAP-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_024133.4 → NP_077047.2 huntingtin-associated protein 1 isoform A

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the shorter isoform (A).

Source sequence(s)

JAXUCZ010000010

UniProtKB/TrEMBL

A0A0G2K342, A6HJ27

Related

ENSRNOP00000072494.1, ENSRNOT00000090702.3

Conserved Domains (1) summary

pfam04849
Location:83 → 403

HAP1_N; HAP1 N-terminal conserved region
NM_177982.3 → NP_817091.2 huntingtin-associated protein 1 isoform B

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a segment in the 3' coding region that causes a frameshift, and lacks a segment in the 3' UTR, compared to variant 1. The encoded protein (isoform B) is longer and has a distinct C-terminus, compared to isoform A.

Source sequence(s)

JAXUCZ010000010

UniProtKB/Swiss-Prot

P54256

UniProtKB/TrEMBL

A6HJ26, F1LQG0

Related

ENSRNOP00000020603.3, ENSRNOT00000020603.7

Conserved Domains (1) summary

pfam04849
Location:83 → 403

HAP1_N; HAP1 N-terminal conserved region