Hap1 huntingtin-associated protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hap1provided by MGI
Official Full Name: huntingtin-associated protein 1provided by MGI
Primary source: MGI:MGI:1261831
See related: Ensembl:ENSMUSG00000006930 AllianceGenome:MGI:1261831
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HAP-1
Summary: The protein encoded by this gene was first identified as a neuronal protein that binds the HD protein huntingtin. The protein also interacts with kinesin light chain, 14-3-3 proteins, and Abelson helper integration site 1 protein. The protein is involved in intracellular trafficking of vesicles and organelles, and lack of the protein results in neuronal death resembling the hypothalamic degeneration that occurs in Huntington's disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
Expression: Biased expression in CNS E18 (RPKM 65.1), whole brain E14.5 (RPKM 47.4) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 63.47 cM; 11 D

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (100238153..100247808, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (100347327..100356982, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Differential expression and roles of Huntingtin and Huntingtin-associated protein 1 in the mouse and primate brains.
Title: Differential expression and roles of Huntingtin and Huntingtin-associated protein 1 in the mouse and primate brains.
Dexamethasone Protects Against Ischaemic Brain Injury via Inhibiting the pAkt Signalling Pathway Through Increasing Hap1.
Title: Dexamethasone Protects Against Ischaemic Brain Injury via Inhibiting the pAkt Signalling Pathway Through Increasing Hap1.
Huntingtin-associated protein 1 plays an essential role in the pathogenesis of type 2 diabetes by regulating the translocation of GLUT4 in mouse adipocytes.
Title: Huntingtin-associated protein 1 plays an essential role in the pathogenesis of type 2 diabetes by regulating the translocation of GLUT4 in mouse adipocytes.
Loss of Hap1 selectively promotes striatal degeneration in Huntington disease mice.
Title: Loss of Hap1 selectively promotes striatal degeneration in Huntington disease mice.
our results identify HAP1 as an in vivo UBE3A target that contributes to deregulated autophagy and synaptic dysfunction in the central nervous system of Angelman syndrome mice
Title: HAP1 is an in vivo UBE3A target that augments autophagy in a mouse model of Angelman syndrome.
HAP1 plays a role in the endocytosis of BDNF and its receptor in neurons.
Title: HAP1 Is Required for Endocytosis and Signalling of BDNF and Its Receptors in Neurons.
Depleting Huntingtin-associated protein 1 (Hap1) promoted the dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A)-DDB1 and CUL4 associated factor 7 (Dcaf7) interaction and increased the DYRK1A protein level.
Title: DYRK1A regulates Hap1-Dcaf7/WDR68 binding with implication for delayed growth in Down syndrome.
This study also validated the interaction between HAP1 and Sec23A using co-immunoprecipitation experiments with endogenous proteins. This manuscript also reports on the high confidence interacting partners of HAP1 identified by the non-biased approach used in this study, which interestingly, consists of predominantly trafficking-related proteins
Title: Huntingtin-associated protein-1 (HAP1) regulates endocytosis and interacts with multiple trafficking-related proteins.
HAP1 co-localizes with synapsin I in cortical neurons as discrete puncta
Title: Huntingtin-associated protein-1 is a synapsin I-binding protein regulating synaptic vesicle exocytosis and synapsin I trafficking.
findings suggest that Hap1 is important for insulin secretion of pancreatic beta-cells via regulating the intracellular trafficking and plasma membrane localization of Cav1.2, providing new insight into the mechanisms that regulate insulin release from pancreatic beta-cells.
Title: Regulation of L-type Ca2+ Channel Activity and Insulin Secretion by Huntingtin-associated Protein 1.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hap1 (e-PCR), detects polymorphism
- UniSTS:506968

AJ003128 (e-PCR)
- UniSTS:163515

NoName (e-PCR)
- UniSTS:236732

Hap1 (e-PCR), detects polymorphism
- UniSTS:143314

Hap1 (e-PCR), detects polymorphism
- UniSTS:143315

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables brain-derived neurotrophic factor binding	ISO Inferred from Sequence Orthology more info
enables brain-derived neurotrophic factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
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	ISS Inferred from Sequence or Structural Similarity 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 cerebellum development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
involved_in hypothalamus cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion distribution	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of amyloid-beta formation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of amyloid-beta formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in neurotrophin TRK receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotrophin TRK receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epidermal growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of inclusion body assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neurotrophin production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neurotrophin production	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of synaptic transmission, GABAergic	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of synaptic transmission, GABAergic	ISS Inferred from Sequence or Structural Similarity 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of organelle transport along microtubule	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in retrograde axonal transport	ISO Inferred from Sequence Orthology more info
involved_in retrograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle transport along microtubule	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vesicle transport along microtubule	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

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Preferred Names: huntingtin-associated protein 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_001359052.1 → NP_001345981.1 huntingtin-associated protein 1 isoform C

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform C, which is shorter than isoform B.

Source sequence(s)

BC053043

Conserved Domains (1) summary

pfam04849
Location:82 → 402

HAP1_N; HAP1 N-terminal conserved region
NM_010404.3 → NP_034534.1 huntingtin-associated protein 1 isoform A

See identical proteins and their annotated locations for NP_034534.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 3' CDS and 3' UTR compared to variant 2. It encodes isoform A, which has a shorter and distinct C-terminus, compared to isoform B.

Source sequence(s)

AK138436, AL590968, BC053043, BY288360

Consensus CDS

CCDS25419.1

UniProtKB/Swiss-Prot

O35668

Related

ENSMUSP00000099413.5, ENSMUST00000103124.11

Conserved Domains (2) summary

pfam04849
Location:82 → 402

HAP1_N; HAP1 N-terminal conserved region

cl09176
Location:266 → 352

FlgN; FlgN protein
NM_177981.2 → NP_817090.1 huntingtin-associated protein 1 isoform B

See identical proteins and their annotated locations for NP_817090.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes the longest isoform (B).

Source sequence(s)

BC053043, BY288360

Consensus CDS

CCDS56806.1

UniProtKB/Swiss-Prot

O35636, O35668

Related

ENSMUSP00000133356.2, ENSMUST00000138603.9

Conserved Domains (1) summary

pfam04849
Location:82 → 402

HAP1_N; HAP1 N-terminal conserved region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

100238153..100247808 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030245581.1 → XP_030101441.1 huntingtin-associated protein 1 isoform X2

UniProtKB/Swiss-Prot

O35636, O35668

Conserved Domains (1) summary

pfam04849
Location:82 → 402

HAP1_N; HAP1 N-terminal conserved region
XM_030245580.1 → XP_030101440.1 huntingtin-associated protein 1 isoform X1

Conserved Domains (1) summary

pfam04849
Location:82 → 403

HAP1_N; HAP1 N-terminal conserved region
XM_011248745.4 → XP_011247047.1 huntingtin-associated protein 1 isoform X3

Conserved Domains (1) summary

pfam04849
Location:82 → 403

HAP1_N; HAP1 N-terminal conserved region
XM_011248744.4 → XP_011247046.1 huntingtin-associated protein 1 isoform X1

Conserved Domains (1) summary

pfam04849
Location:82 → 403

HAP1_N; HAP1 N-terminal conserved region