Hip1 huntingtin interacting protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hip1provided by MGI
Official Full Name: huntingtin interacting protein 1provided by MGI
Primary source: MGI:MGI:1099804
See related: Ensembl:ENSMUSG00000039959 AllianceGenome:MGI:1099804
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: mKIAA4113; 2610109B09Rik; A930014B11Rik; E130315I21Rik
Summary: Predicted to enable several functions, including AP-2 adaptor complex binding activity; phosphatidylinositol phosphate binding activity; and protein dimerization activity. Involved in endocytosis; presynaptic modulation of chemical synaptic transmission; and regulation of receptor-mediated endocytosis. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including brain; heart; and testis. Orthologous to human HIP1 (huntingtin interacting protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in lung adult (RPKM 13.0), subcutaneous fat pad adult (RPKM 12.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 75.18 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (135435350..135574167, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (135406496..135545323, complement)

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?

Gdpd3 compensates for Hip1 loss.
Title: Deficiency of the Endocytic Protein Hip1 Leads to Decreased Gdpd3 Expression, Low Phosphocholine, and Kypholordosis.
we show that M. tuberculosis impairs dendritic cell cytokine secretion, maturation, and antigen presentation through the cell envelope-associated serine hydrolase, Hip1.
Title: Mycobacterium tuberculosis impairs dendritic cell functions through the serine hydrolase Hip1.
HIP1 association with and phosphorylation mediated by EGFR and EGFRvIII.
Title: Huntingtin-interacting protein 1 phosphorylation by receptor tyrosine kinases.
Huntingtin-interacting protein 1 is a Merkel cell carcinoma marker that interacts with c-Kit
Title: Huntingtin-interacting protein 1: a Merkel cell carcinoma marker that interacts with c-Kit.
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.
The presence of a 110-kDa form of HIP1 in tumor cells was discovered. Upon sequencing of Hip1 DNA and message from these tumors, it was seen that this 110-kDa form of HIP1 is the product of splicing of a cryptic U12-type AT-AC intron.
Title: Use of a cryptic splice site for the expression of huntingtin interacting protein 1 in select normal and neoplastic tissues.
Presynaptic function is altered in hippocampal brain slices of HIP1-deficient mice demonstrating delayed recovery from synaptic depression and a reduction in paired-pulse facilitation.
Title: Huntingtin-interacting protein 1 influences worm and mouse presynaptic function and protects Caenorhabditis elegans neurons against mutant polyglutamine toxicity.
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.
Results show that pro-apoptotic Hippi-Hip-1 heterodimers can recruit procaspase-8 into a complex of Hippi, Hip-1 and procaspase-8, and launch apoptosis through components of the 'extrinsic' cell-death pathw
Title: Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi.
three different mutations lead to hematopoietic abnormalities reflected by diminished early progenitor frequencies
Title: Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (2)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235335

NoName (e-PCR)
- UniSTS:235336

RH133161 (e-PCR)
- UniSTS:216444

Hip1 (e-PCR), detects polymorphism
- UniSTS:230792

Hip1 (e-PCR), detects polymorphism
- UniSTS:143345

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables AP-2 adaptor complex binding	IEA Inferred from Electronic Annotation more info
enables AP-2 adaptor complex binding	ISO Inferred from Sequence Orthology more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IEA Inferred from Electronic Annotation more info
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 binding	ISO Inferred from Sequence Orthology more info	PubMed
enables clathrin light chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin light chain binding	IEA Inferred from Electronic Annotation more info
enables clathrin light chain binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3,4-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4-bisphosphate binding	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3-phosphate binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3-phosphate binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of_or_within apoptotic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in clathrin coat assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within clathrin coat assembly	ISO Inferred from Sequence Orthology more info	PubMed
involved_in clathrin coat assembly	ISO Inferred from Sequence Orthology more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of platelet-derived growth factor receptor-beta signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of platelet-derived growth factor receptor-beta signaling pathway	IEA Inferred from Electronic Annotation 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 receptor-mediated endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in presynaptic modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in presynaptic modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of apoptotic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in clathrin-coated vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info	PubMed
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype 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 nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in postsynapse	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynapse	ISO Inferred from Sequence Orthology more info
located_in presynapse	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: huntingtin-interacting protein 1

Names: HIP-I; huntingtin-interacting protein I

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_001382848.1 → NP_001369777.1 huntingtin-interacting protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC024608

Conserved Domains (4) summary

smart00307
Location:772 → 970

ILWEQ; I/LWEQ domain

COG1196
Location:363 → 602

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

pfam07651
Location:7 → 272

ANTH; ANTH domain

pfam16515
Location:454 → 538

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
NM_146001.2 → NP_666113.2 huntingtin-interacting protein 1 isoform 1

See identical proteins and their annotated locations for NP_666113.2

Status: VALIDATED

Source sequence(s)

AK147246, BC017516, BY309818, CF746398

Consensus CDS

CCDS51663.1

UniProtKB/Swiss-Prot

Q3TLS2, Q571K7, Q8VD75

Related

ENSMUSP00000059033.9, ENSMUST00000060311.12

Conserved Domains (5) summary

smart00307
Location:806 → 1004

ILWEQ; I/LWEQ domain

COG1196
Location:397 → 636

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

pfam07651
Location:42 → 307

ANTH; ANTH domain

pfam16515
Location:482 → 572

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

pfam14335
Location:336 → 441

DUF4391; Domain of unknown function (DUF4391)

RNA

NR_168637.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC024608

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

135435350..135574167 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240878.4 → XP_011239180.1 huntingtin-interacting protein 1 isoform X2

See identical proteins and their annotated locations for XP_011239180.1

UniProtKB/Swiss-Prot

Q3TLS2, Q571K7, Q8VD75

Conserved Domains (5) summary

smart00307
Location:806 → 1004

ILWEQ; I/LWEQ domain

COG1196
Location:397 → 636

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

pfam07651
Location:42 → 307

ANTH; ANTH domain

pfam16515
Location:482 → 572

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

pfam14335
Location:336 → 441

DUF4391; Domain of unknown function (DUF4391)
XM_036164986.1 → XP_036020879.1 huntingtin-interacting protein 1 isoform X1

Conserved Domains (4) summary

smart00307
Location:814 → 1012

ILWEQ; I/LWEQ domain

COG1196
Location:389 → 644

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

pfam07651
Location:39 → 306

ANTH; ANTH domain

pfam16515
Location:488 → 580

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
XM_036164985.1 → XP_036020878.1 huntingtin-interacting protein 1 isoform X1

Conserved Domains (4) summary

smart00307
Location:814 → 1012

ILWEQ; I/LWEQ domain

COG1196
Location:389 → 644

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

pfam07651
Location:39 → 306

ANTH; ANTH domain

pfam16515
Location:488 → 580

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
XM_036164989.1 → XP_036020882.1 huntingtin-interacting protein 1 isoform X4

Conserved Domains (4) summary

smart00307
Location:780 → 978

ILWEQ; I/LWEQ domain

COG1196
Location:355 → 610

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

pfam07651
Location:7 → 272

ANTH; ANTH domain

pfam16515
Location:454 → 546

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
XM_036164990.1 → XP_036020883.1 huntingtin-interacting protein 1 isoform X5

Conserved Domains (4) summary

smart00307
Location:772 → 970

ILWEQ; I/LWEQ domain

COG1196
Location:363 → 602

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

pfam07651
Location:7 → 272

ANTH; ANTH domain

pfam16515
Location:454 → 538

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
XM_036164987.1 → XP_036020880.1 huntingtin-interacting protein 1 isoform X3

Conserved Domains (4) summary

smart00307
Location:789 → 987

ILWEQ; I/LWEQ domain

COG1196
Location:364 → 619

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

pfam07651
Location:15 → 281

ANTH; ANTH domain

pfam16515
Location:463 → 555

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
XM_036164988.1 → XP_036020881.1 huntingtin-interacting protein 1 isoform X3

Conserved Domains (4) summary

smart00307
Location:789 → 987

ILWEQ; I/LWEQ domain

COG1196
Location:364 → 619

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

pfam07651
Location:15 → 281

ANTH; ANTH domain

pfam16515
Location:463 → 555

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