• Gene id: 9026

Gene Summary

• Gene Symbol: HIP1R   Gene   UCSC   Ensembl
• Aliases: HIP12, HIP3, ILWEQ
• Gene name: huntingtin interacting protein 1 related
• Alternate names: huntingtin-interacting protein 1-related protein, HIP-12, HIP1-related protein, huntingtin interacting protein 12,
• Gene location: 12q24.31 (122834497: 122862960)     Exons: 34     NC_000012.12

Protein Summary

• Protein general information: O75146  
  • Name: Huntingtin interacting protein 1 related protein (HIP1 related protein) (Huntingtin interacting protein 12) (HIP 12)
  • Length: 1068  
  • Mass: 119388
  • Tissue specificity: Brain, heart, kidney, pancreas, and liver, but not in lung or placenta.
• Sequence:

  MNSIKNVPARVLSRRPGHSLEAEREQFDKTQAISISKAINTQEAPVKEKHARRIILGTHHEKGAFTFWSYAIGLP
  LPSSSILSWKFCHVLHKVLRDGHPNVLHDCQRYRSNIREIGDLWGHLHDRYGQLVNVYTKLLLTKISFHLKHPQF
  PAGLEVTDEVLEKAAGTDVNNIFQLTVEMFDYMDCELKLSESVFRQLNTAIAVSQMSSGQCRLAPLIQVIQDCSH
  LYHYTVKLLFKLHSCLPADTLQGHRDRFHEQFHSLRNFFRRASDMLYFKRLIQIPRLPEGPPNFLRASALAEHIK
  PVVVIPEEAPEDEEPENLIEISTGPPAGEPVVVADLFDQTFGPPNGSVKDDRDLQIESLKREVEMLRSELEKIKL
  EAQRYIAQLKSQVNALEGELEEQRKQKQKALVDNEQLRHELAQLRAAQLEGERSQGLREEAERKASATEARYNKL
  KEKHSELVHVHAELLRKNADTAKQLTVTQQSQEEVARVKEQLAFQVEQVKRESELKLEEKSDQLEKLKRELEAKA
  GELARAQEALSHTEQSKSELSSRLDTLSAEKDALSGAVRQREADLLAAQSLVRETEAALSREQQRSSQEQGELQG
  RLAERESQEQGLRQRLLDEQFAVLRGAAAEAAGILQDAVSKLDDPLHLRCTSSPDYLVSRAQEALDAVSTLEEGH
  AQYLTSLADASALVAALTRFSHLAADTIINGGATSHLAPTDPADRLIDTCRECGARALELMGQLQDQQALRHMQA
  SLVRTPLQGILQLGQELKPKSLDVRQEELGAVVDKEMAATSAAIEDAVRRIEDMMNQARHASSGVKLEVNERILN
  SCTDLMKAIRLLVTTSTSLQKEIVESGRGAATQQEFYAKNSRWTEGLISASKAVGWGATQLVEAADKVVLHTGKY
  EELIVCSHEIAASTAQLVAASKVKANKHSPHLSRLQECSRTVNERAANVVASTKSGQEQIEDRDTMDFSGLSLIK
  LKKQEMETQVRVLELEKTLEAERMRLGELRKQHYVLAGASGSPGEEVAIRPSTAPRSVTTKKPPLAQKPSVAPRQ
  DHQLDKKDGIYPAQLVNY

• Structural information:
  • Protein Domains: (23..15-)
    (/note="ENTH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00243-)
    (771..101-)
    (/note="I/LWEQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00292"-)
  • Interpro: IPR011417  IPR013809  IPR008942  IPR032422  IPR030555   IPR035964  IPR002558  IPR030224  
  • Prosite: PS50942 PS50945
  • PDB: 1R0D
  • PDBsum: 1R0D
  • DIP: 17042
  • STRING: ENSP00000253083
• Other Databases: GeneCards:  HIP1R  Malacards:  HIP1R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:1901030	positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IGI	biological process
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:2000369	regulation of clathrin-dependent endocytosis	NAS	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0030276	clathrin binding	IDA	molecular function
GO:0032587	ruffle membrane	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0050821	protein stabilization	IDA	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:2000588	positive regulation of platelet-derived growth factor receptor-beta signaling pathway	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IGI	biological process
GO:0030837	negative regulation of actin filament polymerization	IMP	biological process
GO:0032839	dendrite cytoplasm	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0097060	synaptic membrane	ISS	cellular component
GO:0030100	regulation of endocytosis	IMP	biological process
GO:0030100	regulation of endocytosis	NAS	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0032956	regulation of actin cytoskeleton organization	IMP	biological process
GO:0030136	clathrin-coated vesicle	IBA	cellular component
GO:0030276	clathrin binding	IBA	molecular function
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IBA	molecular function
GO:0048268	clathrin coat assembly	IBA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0007015	actin filament organization	IBA	biological process
GO:0032051	clathrin light chain binding	IBA	molecular function
GO:0035615	clathrin adaptor activity	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0048260	positive regulation of receptor-mediated endocytosis	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IBA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:2000369	regulation of clathrin-dependent endocytosis	IEA	biological process
GO:0005543	phospholipid binding	IEA	molecular function
GO:0006897	endocytosis	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0030276	clathrin binding	IEA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:1905445	positive regulation of clathrin coat assembly	IEA	biological process
GO:0061024	membrane organization	IEA	biological process
GO:0060453	regulation of gastric acid secretion	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0035615	clathrin adaptor activity	IEA	molecular function
GO:0032051	clathrin light chain binding	IEA	molecular function
GO:0030837	negative regulation of actin filament polymerization	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055123	digestive system development	IEA	biological process
GO:0048268	clathrin coat assembly	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0034316	negative regulation of Arp2/3 complex-mediated actin nucleation	IEA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0030276	clathrin binding	IEA	molecular function
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0006898	receptor-mediated endocytosis	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030665	clathrin-coated vesicle membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006898	receptor-mediated endocytosis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray