Reactome | UniProt:O00291 HIP1

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UniProt:O00291 HIP1 Show undefined attributes

chain	chain:1-1037
checksum	F8C0369DBF0A836F
comment	FUNCTION Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances androgen receptor (AR)-mediated transcription (PubMed:16027218). May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway (PubMed:11007801). Binds 3-phosphoinositides (via ENTH domain) (PubMed:14732715). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis (PubMed:14732715). May play a functional role in the cell filament networks (PubMed:18790740). May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors (PubMed:11007801, PubMed:12163454).SUBUNIT Homodimer. Binds actin. Binds HTT (via N-terminus). This interaction is restricted to the brain. Binds to IFT57. In normal conditions, it poorly interacts with IFT57, HIP1 being strongly associated with HTT. However, in mutant HTT proteins with a long poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the interaction between HIP1 and IFT57. Interacts with CLTB (via N-terminus). Interacts (via coiled coil domain) with AR. Interacts with AP2A1, AP2A2, CLTC and HIP1R. Interacts with GRIA1, GRIN2A and GRIN2B.INTERACTION Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR.ALTERNATIVE PRODUCTS Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate and colon cancer.DOMAIN The pseudo DED region (pDED) mediates the interaction with IFT57.DOMAIN Binds F-actin via the talin-like I/LWEQ domain.DISEASE A chromosomal aberration involving HIP1 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;7)(q33;q11.2) with PDGFRB (PubMed:9616134). The chimeric HIP1-PDGFRB transcript results from an in-frame fusion of the two genes (PubMed:9616134). The reciprocal PDGFRB-HIP1 transcript is not expressed (PubMed:9616134).MISCELLANEOUS The affinity of the huntingtin protein-HIP1 interaction is inversely correlated to the length of the polyglutamine tract added to the huntingtin protein in Huntington disease.SIMILARITY Belongs to the SLA2 family.
crossReference	[DatabaseIdentifier:12426429] RefSeq:XP_011514418.1 [DatabaseIdentifier:12426427] RefSeq:XP_047276250.1 [DatabaseIdentifier:12426428] RefSeq:NP_001369374.1 [DatabaseIdentifier:12426424] RefSeq:XP_054214014.1 [DatabaseIdentifier:12426423] RefSeq:XP_054214016.1 [DatabaseIdentifier:12426426] RefSeq:NP_005329.3 [DatabaseIdentifier:12426425] RefSeq:NP_001230127.1 [DatabaseIdentifier:11499091] ENSEMBL:ENSG00000127946 [DatabaseIdentifier:11608638] ENSEMBL:ENSP00000336747 [DatabaseIdentifier:11608637] ENSEMBL:ENSP00000410300 [DatabaseIdentifier:11608639] ENSEMBL:ENSP00000484528 [DatabaseIdentifier:11731338] ENSEMBL:ENST00000616821 [DatabaseIdentifier:11731337] ENSEMBL:ENST00000336926 [DatabaseIdentifier:11731336] ENSEMBL:ENST00000434438 [DatabaseIdentifier:11791965] GeneCards:HIP1 [DatabaseIdentifier:11807966] GlyGen:O00291 [DatabaseIdentifier:11844960] HPA:ENSG00000127946-HIP1 [DatabaseIdentifier:12129597] OpenTargets:ENSG00000127946 [DatabaseIdentifier:12210723] PDB:2QA7 [DatabaseIdentifier:12210724] PDB:2NO2 [DatabaseIdentifier:12210725] PDB:3I00 [DatabaseIdentifier:12251504] PRO:O00291 [DatabaseIdentifier:12289808] Pharos - Targets:O00291
databaseName	UniProt
dbId	56526
description	recommendedName: Huntingtin-interacting protein 1 shortName: HIP-1 alternativeName: Huntingtin-interacting protein I shortName: HIP-I
displayName	UniProt:O00291 HIP1
geneName	HIP1
identifier	O00291
isSequenceChanged	false
keyword	3D-structure Actin-binding Activator Alternative splicing Apoptosis Chromosomal rearrangement Coiled coil Cytoplasm Cytoplasmic vesicle Differentiation Endocytosis Membrane Neurodegeneration Nucleus Phosphoprotein Proteomics identification Reference proteome Transcription Transcription regulation
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	HIP1
otherIdentifier	11734760_at 11734761_a_at 11734762_at 11734763_at 11759141_at 11760599_at 1560317_PM_s_at 1560317_s_at 17058826 205425_PM_at 205425_at 205426_PM_s_at 205426_s_at 226364_PM_at 226364_at 3057369 3057371 3057372 3057373 3057374 3057375 3057376 3057377 3057378 3057379 3057380 3057382 3057383 3057384 3057385 3057386 3057387 3057389 3057390 3057391 3057392 3057393 3057394 3057395 3057396 3057397 3057398 3057399 3057400 3057402 3057404 3057406 3057408 3057409 3057410 3057411 3057412 3057413 3057414 3057415 3057416 3057417 3057421 3057422 3057426 3057427 3057500 3057501 3057502 3057504 3092 41061_at 51980_at 73956_at 8140319 8140356 A_23_P71033 A_24_P363548 A_24_P55391 A_24_P916314 A_24_P934455 A_33_P3343485 GE60472 GO:0003779 GO:0005154 GO:0005198 GO:0005200 GO:0005515 GO:0005543 GO:0005634 GO:0005737 GO:0005794 GO:0005829 GO:0005856 GO:0006897 GO:0006915 GO:0007015 GO:0008092 GO:0012505 GO:0016020 GO:0016192 GO:0030100 GO:0030136 GO:0030154 GO:0030276 GO:0030665 GO:0030864 GO:0031410 GO:0032051 GO:0032266 GO:0035091 GO:0035254 GO:0035612 GO:0035615 GO:0042803 GO:0042981 GO:0043325 GO:0045202 GO:0045742 GO:0046982 GO:0048260 GO:0048268 GO:0050821 GO:0051015 GO:0051897 GO:0060090 GO:0065003 GO:0080025 GO:0097190 GO:0098685 GO:0098793 GO:0098794 GO:0098978 GO:0099149 GO:0099171 GO:0099637 GO:2000588 HMNXSV003010981 HMNXSV003033539 Hs.38489.0.A1_3p_at Hs2.420565.1.S1_3p_s_at ILMN_1701403 PH_hs_0030302 TC07001534.hg U79734_at g12545385_3p_at g2072422_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-8868153] HIP1 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9711952] HIP1(1-719)insL-ALK(1059-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9711970] HIP1(1-1019)-ALK(1058-1620) [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9711972] HIP1(1-963)-ALK(1058-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9711965] HIP1(1-719)insL-p-7Y-ALK(1059-1620) fusion [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9711956] HIP1(1-1019)-p-7Y-ALK(1058-1620) [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9711975] HIP1(1-963)-p-7Y-ALK(1058-1620) fusion [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000127946] ENSEMBL:ENSG00000127946 HIP1 [ReferenceDNASequence:12702104] UCSC:O00291 HIP1 [ReferenceDNASequence:11364521] BioGPS Gene:3092 HIP1 [ReferenceDNASequence:11394510] COSMIC - genes:HIP1 HIP1 [ReferenceDNASequence:11419896] CTD Gene:3092 HIP1 [ReferenceDNASequence:11430584] dbSNP Gene:3092 HIP1 [ReferenceDNASequence:11823640] HGNC:4913 HIP1 [ReferenceDNASequence:11903128] KEGG:hsa:3092 HIP1 [ReferenceDNASequence:11994310] Monarch:3092 HIP1 [ReferenceDNASequence:12078403] NCBI Gene:3092 HIP1 [ReferenceDNASequence:12114235] OMIM:601767 HIP1
referenceTranscript	[ReferenceRNASequence:12607983] RefSeq:XM_054358039.1 HIP1 [ReferenceRNASequence:12607982] RefSeq:NM_001382445.1 HIP1 [ReferenceRNASequence:12607984] RefSeq:XM_047420294.1 HIP1 [ReferenceRNASequence:12607988] RefSeq:XM_054358041.1 HIP1 [ReferenceRNASequence:12607985] RefSeq:XM_011516116.3 HIP1 [ReferenceRNASequence:12607986] RefSeq:NM_001243198.3 HIP1 [ReferenceRNASequence:12607987] RefSeq:NM_005338.6 HIP1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	HIP1_HUMAN B4E3I7 E7ES17 O00328 Q2TB58 Q8TDL4 V5LU97
sequenceLength	1037
species	[Species:48887] Homo sapiens
stId	uniprot:O00291
url	http://purl.uniprot.org/uniprot/O00291

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-8868153] HIP1 [cytosol] [EntityWithAccessionedSequence:R-HSA-9711952] HIP1(1-719)insL-ALK(1059-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9711970] HIP1(1-1019)-ALK(1058-1620) [cytosol] [EntityWithAccessionedSequence:R-HSA-9711972] HIP1(1-963)-ALK(1058-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9711965] HIP1(1-719)insL-p-7Y-ALK(1059-1620) fusion [cytosol] [EntityWithAccessionedSequence:R-HSA-9711956] HIP1(1-1019)-p-7Y-ALK(1058-1620) [cytosol] [EntityWithAccessionedSequence:R-HSA-9711975] HIP1(1-963)-p-7Y-ALK(1058-1620) fusion [cytosol]
(referenceSequence)	[FragmentReplacedModification:9711923] Replacement of residues 719 to 719 by DL
(interactor)	[UndirectedInteraction:11137177] UniProt:O14641 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11142077] UniProt:Q13573 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11178029] UniProt:Q86US8 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11206811] UniProt:Q14032 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11218967] UniProt:P10636-8 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11225937] UniProt:P42858 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11232561] UniProt:Q09028 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11262845] UniProt:Q9H0Y0 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11280455] UniProt:Q06547-3 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11287817] UniProt:Q9NQ88 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11302239] UniProt:Q08426 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11304373] UniProt:P35222 <-> UniProt:O00291 (IntAct) [UndirectedInteraction:11306469] UniProt:Q13901 <-> UniProt:O00291 (IntAct)