Hip1r huntingtin interacting protein 1 related [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hip1rprovided by MGI
Official Full Name: huntingtin interacting protein 1 relatedprovided by MGI
Primary source: MGI:MGI:1352504
See related: Ensembl:ENSMUSG00000000915 AllianceGenome:MGI:1352504
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA0655
Summary: Enables several functions, including SH3 domain binding activity; clathrin binding activity; and protein dimerization activity. Involved in several processes, including negative regulation of supramolecular fiber organization; positive regulation of clathrin coat assembly; and regulation of gastric acid secretion. Acts upstream of or within receptor-mediated endocytosis. Located in several cellular components, including apical plasma membrane; clathrin-coated pit; and perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; bone; central nervous system; genitourinary system; and sensory organ. Orthologous to human HIP1R (huntingtin interacting protein 1 related). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in spleen adult (RPKM 24.1), bladder adult (RPKM 22.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 63.3 cM

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (124111665..124141263)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (123973602..124003215)

Chromosome 5 - NC_000071.7 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
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?

Nptx1, Hip1r, and Hdac9 as genes whose expression is altered by HDAC3.
Title: Proteomic analysis identifies NPTX1 and HIP1R as potential targets of histone deacetylase-3-mediated neurodegeneration.
Specific expression of mHip1r in the embryonic brain and secretory glands suggests a possible role for Hip1r in normal development and in the pathology of HD.
Title: Spatiotemporal patterns of the Huntingtin-interacting protein 1-related gene in the mouse head.
IFNgamma was required for the mucous cell hypertrophy and hyperplasia observed in Hip1r-deficient mice. IFNgamma is critical for the development of the gastric epithelial cell metaplasia that results from parietal cell atrophy in the Hip1r-deficient mice.
Title: IFNγ contributes to the development of gastric epithelial cell metaplasia in Huntingtin interacting protein 1 related (Hip1r)-deficient mice.
This study characterized gastric gland development in wild-type and Hip1r-deficient mice to define normal development, as well as the timing and sequence of the cellular transformation events in the mutant stomach.
Title: Cytodifferentiation of the postnatal mouse stomach in normal and Huntingtin-interacting protein 1-related-deficient mice.
Actin binding by Hip1 (huntingtin-interacting protein 1) and Hip1R (Hip1-related protein) is regulated by clathrin light chain
Title: Actin binding by Hip1 (huntingtin-interacting protein 1) and Hip1R (Hip1-related protein) is regulated by clathrin light chain.
Hip1r plays a significant role in gastric physiology, mucosal architecture, and secretory membrane dynamics in parietal cells.
Title: Hip1r is expressed in gastric parietal cells and is required for tubulovesicle formation and cell survival in mice.
Degenerative phenotypes seen in knockout mice are due mainly to HIP1 and HIP1r protein deficiency rather than altered expression of neighboring genes or disrupted intronic elements.
Title: Degenerative phenotypes caused by the combined deficiency of murine HIP1 and HIP1r are rescued by human HIP1.
roles of Hip1 and Hip1R in affecting clathrin assembly and actin distribution are mediated by their interaction with the conserved sequence of clathrin light chains.
Title: Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo.
mice deficient in both HIP1 and HIP1r have accelerated development of abnormalities seen in Hip1 -deficient mice, including kypholordosis and growth defects
Title: Hip1-related mutant mice grow and develop normally but have accelerated spinal abnormalities and dwarfism in the absence of HIP1.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI661708 (e-PCR)
- UniSTS:165428

RH125920 (e-PCR)
- UniSTS:162637

RH126200 (e-PCR)
- UniSTS:162908

RH124921 (e-PCR)
- UniSTS:161743

D5Mit160 (e-PCR), detects polymorphism
- UniSTS:130290

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	IDA Inferred from Direct Assay more info	PubMed
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables clathrin adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin adaptor activity	IC Inferred by Curator more info	PubMed
enables clathrin adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables clathrin binding	IDA Inferred from Direct Assay more info	PubMed
enables clathrin binding	ISO Inferred from Sequence Orthology more info
enables clathrin light chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin light chain binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,4-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in clathrin coat assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in clathrin coat assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in digestive system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Arp2/3 complex-mediated actin nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of clathrin coat assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of clathrin-dependent endocytosis	IC Inferred by Curator 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 mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of platelet-derived growth factor receptor-beta signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein binding	ISO Inferred from Sequence Orthology more info
involved_in postsynapse organization	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within receptor-mediated endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of clathrin-dependent endocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of endocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of gastric acid secretion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
is_active_in clathrin-coated vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in ruffle membrane	ISO Inferred from Sequence Orthology more info
located_in synaptic membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: huntingtin-interacting protein 1-related protein

Names: HIP1-related protein

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_145070.4 → NP_659507.3 huntingtin-interacting protein 1-related protein

See identical proteins and their annotated locations for NP_659507.3

Status: VALIDATED

Source sequence(s)

AC122753

Consensus CDS

CCDS39276.1

UniProtKB/Swiss-Prot

Q3UJ14, Q9JKY5

UniProtKB/TrEMBL

Q6P1F5, Q9D689

Related

ENSMUSP00000000939.9, ENSMUST00000000939.15

Conserved Domains (5) summary

smart00307
Location:814 → 1012

ILWEQ; I/LWEQ domain

pfam07651
Location:28 → 300

ANTH; ANTH domain

pfam09728
Location:357 → 613

Taxilin; Myosin-like coiled-coil protein

pfam16515
Location:461 → 559

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1

cl23720
Location:362 → 470

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RNA

NR_185272.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC122753
NR_185273.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC122753

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_000071.7 Reference GRCm39 C57BL/6J

Range

124111665..124141263

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006530369.4 → XP_006530432.1 huntingtin-interacting protein 1-related protein isoform X1

UniProtKB/TrEMBL

Q6P1F5

Conserved Domains (4) summary

COG1196
Location:355 → 673

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam07651
Location:33 → 300

ANTH; ANTH domain

pfam16515
Location:461 → 559

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1

cl19756
Location:814 → 887

I_LWEQ; I/LWEQ domain
XM_006530370.4 → XP_006530433.1 huntingtin-interacting protein 1-related protein isoform X2

UniProtKB/TrEMBL

Q6P1F5

Conserved Domains (4) summary

COG1196
Location:355 → 673

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam07651
Location:33 → 300

ANTH; ANTH domain

pfam16515
Location:461 → 559

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1

cl19756
Location:814 → 924

I_LWEQ; I/LWEQ domain