HIP1R

HIP1R
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1R0D

Identifiers
AliasesHIP1R, HIP12, HIP3, ILWEQ, huntingtin interacting protein 1 related
External IDsOMIM: 605613; MGI: 1352504; HomoloGene: 78348; GeneCards: HIP1R; OMA:HIP1R - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for HIP1R
Genomic location for HIP1R
Band12q24.31Start122,834,453 bp[1]
End122,862,961 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for HIP1R
Genomic location for HIP1R
Band5|5 FStart124,111,691 bp[2]
End124,143,621 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • C1 segment

  • inferior olivary nucleus

  • skin of leg

  • right frontal lobe

  • body of pancreas

  • amygdala

  • skin of abdomen

  • anterior pituitary

  • dorsal motor nucleus of vagus nerve

  • hypothalamus
Top expressed in
  • transitional epithelium of urinary bladder

  • saccule

  • epithelium of stomach

  • granulocyte

  • otic placode

  • otic vesicle

  • hair follicle

  • lip

  • submandibular gland

  • motor neuron
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • actin binding
  • protein binding
  • phospholipid binding
  • phosphatidylinositol binding
  • phosphatidylinositol-4,5-bisphosphate binding
  • phosphatidylinositol-3,4,5-trisphosphate binding
  • SH3 domain binding
  • clathrin binding
  • clathrin light chain binding
  • clathrin adaptor activity
  • protein homodimerization activity
  • phosphatidylinositol-3,4-bisphosphate binding
  • protein heterodimerization activity
  • actin filament binding
  • phosphatidylinositol-3,5-bisphosphate binding
  • identical protein binding
Cellular component
  • perinuclear region of cytoplasm
  • clathrin-coated pit
  • cytoskeleton
  • clathrin-coated vesicle membrane
  • intracellular membrane-bounded organelle
  • endomembrane system
  • membrane
  • cytoplasmic vesicle
  • clathrin-coated vesicle
  • cytoplasm
  • mitochondrion
  • cytosol
  • cell cortex
  • postsynaptic density
  • apical plasma membrane
  • ruffle membrane
  • dendrite cytoplasm
  • neuronal cell body
  • dendritic spine
  • synaptic membrane
  • AP-2 adaptor complex
  • actin cortical patch
Biological process
  • endocytosis
  • receptor-mediated endocytosis
  • apoptotic process
  • activation of cysteine-type endopeptidase activity involved in apoptotic process
  • regulation of endocytosis
  • negative regulation of actin filament polymerization
  • positive regulation of protein binding
  • regulation of actin cytoskeleton organization
  • negative regulation of Arp2/3 complex-mediated actin nucleation
  • positive regulation of apoptotic process
  • negative regulation of apoptotic process
  • positive regulation of epidermal growth factor receptor signaling pathway
  • clathrin coat assembly
  • protein stabilization
  • digestive system development
  • regulation of gastric acid secretion
  • membrane organization
  • positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway
  • positive regulation of clathrin coat assembly
  • positive regulation of platelet-derived growth factor receptor-beta signaling pathway
  • regulation of clathrin-dependent endocytosis
  • actin filament organization
  • positive regulation of receptor-mediated endocytosis
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

9026

29816

Ensembl

ENSG00000130787

ENSMUSG00000000915

UniProt

O75146

Q9JKY5

RefSeq (mRNA)

NM_001303097
NM_001303099
NM_003959

NM_145070

RefSeq (protein)

NP_001290026
NP_001290028
NP_003950

NP_659507

Location (UCSC)Chr 12: 122.83 – 122.86 MbChr 5: 124.11 – 124.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Huntingtin-interacting protein 1-related protein is a protein that in humans is encoded by the HIP1R gene.[5][6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130787 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000915 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Brett TJ, Legendre-Guillemin V, McPherson PS, Fremont DH (Feb 2006). "Structural definition of the F-actin-binding THATCH domain from HIP1R". Nat Struct Mol Biol. 13 (2): 121–30. doi:10.1038/nsmb1043. PMID 16415883. S2CID 1456946.
  6. ^ "Entrez Gene: HIP1R huntingtin interacting protein 1 related".

Further reading

  • Parker JA, Metzler M, Georgiou J, et al. (2007). "Huntingtin-interacting protein 1 influences worm and mouse presynaptic function and protects Caenorhabditis elegans neurons against mutant polyglutamine toxicity". J. Neurosci. 27 (41): 11056–64. doi:10.1523/JNEUROSCI.1941-07.2007. PMC 6672856. PMID 17928447.
  • Bradley SV, Hyun TS, Oravecz-Wilson KI, et al. (2007). "Degenerative phenotypes caused by the combined deficiency of murine HIP1 and HIP1r are rescued by human HIP1". Hum. Mol. Genet. 16 (11): 1279–92. doi:10.1093/hmg/ddm076. PMID 17452370.
  • Provençal N, Shink E, Harvey M, et al. (2005). "Analysis of a variable number tandem repeat polymorphism in the huntingtin interacting protein-1 related gene for anticipation in bipolar affective disorder". Prog. Neuropsychopharmacol. Biol. Psychiatry. 28 (8): 1299–303. doi:10.1016/j.pnpbp.2004.07.001. PMID 15588756. S2CID 23161289.
  • Senetar MA, Foster SJ, McCann RO (2005). "Intrasteric inhibition mediates the interaction of the I/LWEQ module proteins Talin1, Talin2, Hip1, and Hip12 with actin". Biochemistry. 43 (49): 15418–28. doi:10.1021/bi0487239. PMID 15581353.
  • Navarro-Lérida I, Martínez Moreno M, Roncal F, et al. (2004). "Proteomic identification of brain proteins that interact with dynein light chain LC8". Proteomics. 4 (2): 339–46. doi:10.1002/pmic.200300528. PMID 14760703. S2CID 8868600.
  • Engqvist-Goldstein AE, Zhang CX, Carreno S, et al. (2004). "RNAi-mediated Hip1R silencing results in stable association between the endocytic machinery and the actin assembly machinery". Mol. Biol. Cell. 15 (4): 1666–79. doi:10.1091/mbc.E03-09-0639. PMC 379265. PMID 14742709.
  • Hyun TS, Rao DS, Saint-Dic D, et al. (2004). "HIP1 and HIP1r stabilize receptor tyrosine kinases and bind 3-phosphoinositides via epsin N-terminal homology domains". J. Biol. Chem. 279 (14): 14294–306. doi:10.1074/jbc.M312645200. PMID 14732715.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Legendre-Guillemin V, Metzler M, Charbonneau M, et al. (2002). "HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain". J. Biol. Chem. 277 (22): 19897–904. doi:10.1074/jbc.M112310200. PMID 11889126.
  • Chopra VS, Metzler M, Rasper DM, et al. (2001). "HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin". Mamm. Genome. 11 (11): 1006–15. doi:10.1007/s003350010195. PMID 11063258. S2CID 19956774.
  • Seki N, Muramatsu M, Sugano S, et al. (1999). "Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1)". J. Hum. Genet. 43 (4): 268–71. doi:10.1007/s100380050087. PMID 9852681.
  • Ishikawa K, Nagase T, Suyama M, et al. (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
  • Puigvert A (1976). "Caliceal urodynamics". Urol. Int. 30 (4): 282–96. doi:10.1159/000279990. PMID 1189126.
  • v
  • t
  • e
  • 1r0d: HIP1R THATCH DOMAIN CORE
    1r0d: HIP1R THATCH DOMAIN CORE


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