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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HIP1R Gene

protein-coding GIFtS: 64
GCID: GC12P123319

huntingtin interacting protein 1 related

Explore 3 diseases affiliated with
HIP1R via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Huntingtin Interacting Protein 1 Related¹ ²		HIP-12² ³
HIP12¹ ² ³ ⁵		HIP1-Related Protein² ³
HIP3¹ ²		FLJ14000¹
ILWEQ¹ ²		Huntingtin Interacting Protein 12²
KIAA0655¹ ³		Huntingtin-Interacting Protein 1-Related Protein²
Huntingtin-Interacting Protein 12² ³

External Ids:	HGNC: 18415¹	Entrez Gene: 9026²	Ensembl: ENSG00000130787⁷	OMIM: 605613⁵	UniProtKB: O75146³

Export aliases for HIP1R gene to outside databases

Previous GC identifers: GC12P122029 GC12M122922 GC12P123127 GC12P121757 GC12P121844 GC07M021782

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: HIP1R_HUMAN, O75146

Function: Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin

cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by

stabilizing receptor tyrosine kinases following ligand-induced endocytosis

Gene Wiki entry for HIP1R

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009755.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HIP1R gene promoter:
AML1a HSF1 (long) NF-E2 p45 E4BP4 AREB6 S8 HSF1short Cart-1 NF-E2 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HIP1R promoter sequence

Search SABiosciences Chromatin IP Primers for HIP1R

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HIP1R

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24 Ensembl cytogenetic band: 12q24.31 HGNC cytogenetic band: 12q24

HIP1R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIP1R gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P123319: view genomic region (about GC identifiers)

Start:	123,319,000 bp from pter	End:	123,347,507 bp from pter
Size:	28,508 bases	Orientation:	plus strand

1 alternative location:

Chr7-,CRA_TCAG 21,782,147-21,794,187

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HIP1R_HUMAN, O75146 (See protein sequence)

Recommended Name: Huntingtin-interacting protein 1-related protein

Size: 1068 amino acids; 119388 Da

Subunit: Interacts with actin. Does not interact with huntingtin (By similarity). Interacts with CLTB and HIP1.

Homodimer. Homodimerization promotes actin binding

Subcellular location: Cytoplasm, perinuclear region. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle

membrane. Note=Membrane-associated protein, mainly localized at the endocytic compartments and in the perinuclear

region

Sequence caution: Sequence=BAA31630.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for HIP1R:

1R0D (3D)

Secondary accessions: A6NHQ6 Q9UED9

Explore the universe of human proteins at neXtProt for HIP1R: NX_O75146

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75146

HIP1R Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003950.1

ENSEMBL proteins:

ENSP00000253083 ENSP00000446236

Reactome Protein details: O75146
Human Recombinant Protein Products:

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	Novus Biologicals HIP1R Proteins Novus Biologicals HIP1R Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for HIP1R

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005856	cytoskeleton	IEA	--
GO:0005905	coated pit	NAS	--
GO:0030136	clathrin-coated vesicle	IDA	14732715
GO:0030665	clathrin-coated vesicle membrane	IEA	--
GO:0048471	perinuclear region of cytoplasm	IEA	--

HIP1R for ontologies About GeneDecksing

HIP1R Antibody Products:

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	ThermoFisher Antibodies for HIP1R

Assay Products for HIP1R:

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	GenScript Custom Assay Services for HIP1R
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	Uscn ELISAs and CLIAs for HIP1R

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HIP1R for domains About GeneDecksing

4 InterPro domains/families:

IPR002558 ILWEQ

IPR011417 ANTH

IPR008942 ENTH_VHS

IPR013809 Epsin-like_N

Graphical View of Domain Structure for InterPro Entry O75146

ProtoNet protein and cluster: O75146

3 Blocks protein families:

IPB001026 Epsin N-terminal homology

IPB002558 I/LWEQ domain

IPB013809 Epsin-like

UniProtKB/Swiss-Prot: HIP1R_HUMAN, O75146

Domain: Binds F-actin via the talin-like I/LWEQ domain

Similarity: Belongs to the SLA2 family

Similarity: Contains 1 ENTH (epsin N-terminal homology) domain

Similarity: Contains 1 I/LWEQ domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HIP1R_HUMAN, O75146

Function: Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin

cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by

stabilizing receptor tyrosine kinases following ligand-induced endocytosis

Genatlas biochemistry entry for HIP1R:

Huntingtin interacting protein 1 related,ubiquitously expressed

miRNA Products:		OriGene 3'-UTR Clone: HIP1R Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HIP1R
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate HIP1R:
		hsa-miR-137 hsa-miR-198 hsa-miR-212 hsa-miR-1207-5p hsa-miR-24 hsa-miR-132 hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmid: HIP1R 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HIP1R (see all 7) OriGene shRNA RFP: HIP1R OriGene siRNA: HIP1R
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HIP1R

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HIP1R

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: HIP1R (NM_003959)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIP1R

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HIP1R
		Search LifeMap BioReagents cell lines for HIP1R

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIP1R

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	NAS	--
GO:0005515	protein binding	IPI	15533940
GO:0035091	phosphatidylinositol binding	IDA	14732715

HIP1R for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for HIP1R:

Decreased p24 protein expressi

Animal Models:
Mouse knock-out Hip1r^tm1Tsr for HIP1R
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hip1r):

growth/size

normal

skeleton

HIP1R for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Clathrin derived vesicle budding

	Clathrin derived vesicle budding	1.00			Golgi Associated Vesicle Biogenesis	0.89
	trans-Golgi Network Vesicle Budding	1.00

Clathrin-dependent protein traffic

	Clathrin-dependent protein traffic	1.00			wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)	0.35
	Transport_Clathrin-coated vesicle cycle	0.66

Membrane Trafficking

Membrane Trafficking

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for HIP1R

Clathrin-dependent protein traffic

2 GeneGo (Thomson Reuters) Pathways for HIP1R

	wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
	Transport Clathrin-coated vesicle cycle

4 Reactome Pathways for HIP1R

	Membrane Trafficking
	Clathrin derived vesicle budding
	Golgi Associated Vesicle Biogenesis
	trans-Golgi Network Vesicle Budding

HIP1R for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HIP1R

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/791 Interacting proteins for HIP1R (O75146^{2, 3} ENSP00000253083⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 791)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACTR2	P61160²^,³	MINT-7945693 MINT-7947479 I2D: score=2
ACTB	P60709²^,³	MINT-7945693 MINT-7947479 I2D: score=1
CCT3	P49368²^,³	MINT-7945693 MINT-7947479 I2D: score=1
DIAPH1	O60610²^,³	MINT-7945693 MINT-7947479 I2D: score=1
PICALM	Q13492²^,³	MINT-7945693 MINT-7947479 I2D: score=1

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006898	receptor-mediated endocytosis	IMP	11889126

HIP1R for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HIP1R for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HIP1R
1 Novoseek chemical compound relationship for HIP1R gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
inositol	49.6	3	14732715 (2), 17452370 (1)

Search CenterWatch for drugs/clinical trials and news about HIP1R

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HIP1R gene:

NM_003959.1

Unigene Cluster for HIP1R:

Huntingtin interacting protein 1 related

Hs.524815 [show with all ESTs]

Unigene Representative Sequence: NM_003959

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000535831(uc001udg.1 uc001udi.1) ENST00000253083(uc001udj.1 uc001udk.1)

ENST00000452196(uc001udh.3) ENST00000536772 ENST00000536847 ENST00000541712

ENST00000536617 ENST00000538236 ENST00000535012 ENST00000537322

miRNA Products:		OriGene 3'-UTR Clone: HIP1R Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HIP1R
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate HIP1R:
		hsa-miR-137 hsa-miR-198 hsa-miR-212 hsa-miR-1207-5p hsa-miR-24 hsa-miR-132 hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmid: HIP1R 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HIP1R

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HIP1R (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HIP1R OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HIP1R (NM_003959)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HIP1R
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HIP1R
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HIP1R

Additional cDNA sequence:

AB013384.1 AB014555.1 AK024062.1 AK090537.1 AK295389.1 AK298387.1 AK307446.1 AK308538.1

BC011354.2 BC038981.1 BC067085.1

12 DOTS entries:

DT.448446 DT.100820999 DT.100028365 DT.95263021 DT.40214470 DT.100700951 DT.121039022 DT.95173608

DT.100719331 DT.92433204 DT.215143 DT.95173611

1 AceView cDNA sequence:

NM_003959

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for HIP1R (see all 9) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19a	·	19b	·	19c	^	20	^	21	^
SP1:			-		-										-
SP2:															-
SP3:																																													-		-
SP4:
SP5:

ExUns:	22a	·	22b	^	23	^	24	^	25	^	26	^	27a	·	27b	·	27c	^	28a	·	28b	^	29	^	30	^	31	^	32a	·	32b	^	33a	·	33b	·	33c	^	34
SP1:
SP2:
SP3:	-
SP4:																	-
SP5:

ECgene alternative splicing isoforms for HIP1R

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HIP1R expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTCCTGCT

About this image

HIP1R expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Adipose

Interscapular Brown Adipose Depot

Adipose

Eye

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HIP1R Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HIP1R

SOURCE GeneReport for Unigene cluster: Hs.524815

UniProtKB/Swiss-Prot: HIP1R_HUMAN, O75146

Tissue specificity: Brain, heart, kidney, pancreas, and liver, but not in lung or placenta

SABiosciences Custom PCR Arrays for HIP1R

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HIP1R

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIP1R

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for HIP1R gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HIP1R¹	huntingtin interacting protein 1 related	77.63(n) 78.69(a)		416836 NM_001030657.1 NP_001025828.1
lizard (Anolis carolinensis)	Reptilia	HIP1R⁶	--	76(a)	1 ↔ 1	LGb(2079168-2118533)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.16702²	Transcribed sequence with moderate similarity to protein more	76.97(n)		BX746626.1
zebrafish (Danio rerio)	Actinopterygii	zgc:158784¹	zgc:158784	64.24(n) 63.29(a)		562138 NM_001083565.1 NP_001077034.1
fruit fly (Drosophila melanogaster)	Insecta	Hip1⁶	Huntingtin interacting protein 1	25(a)	1 → many	3L(12761532-12766673)
worm (Caenorhabditis elegans)	Secernentea	hipr-1⁶ tag-138⁶ (see all 3)	Huntington interacting protein related 1 Temporarily Assigned Gene name family member (tag-... (see all 3)	33(a) 29(a) (see all 3)	many ↔ many many ↔ many (see all 3)	III(8720120-8725253) I(12934756-12937241)

ENSEMBL Gene Tree for HIP1R (if available)
TreeFam Gene Tree for HIP1R (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HIP1R gene

TLN2² HIP1² MESDC1² TLN1²

1 SIMAP similar gene for HIP1R using alignment to 3 protein entries: HIP1R_HUMAN (see all proteins):

HIP1

HIP1R for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs142571746^1,2		--	123318040(+)	`CCAGTC/TGCTAA`	1	--	us2k¹		0	--	--	--	--
rs191950563^1,2		--	123318041(+)	`CAGTTA/GCTAAT`	1	--	us2k¹		0	--	--	--	--
rs150545412^1,2		--	123318049(+)	`AATGGA/GAAGTC`	1	--	us2k¹		0	--	--	--	--
rs139907003^1,2		--	123318076(+)	`TAGACA/CTACAG`	1	--	us2k¹		0	--	--	--	--
rs118063722^1,2	F,	--	123318187(+)	`AGTACC/TGCAAA`	1	--	us2k¹		1		EA	120
rs115791013^1,2	F,	--	123318268(+)	`TTAGCC/TCAGTG`	1	--	us2k¹		1		WA	118
rs143428926^1,2		--	123318300(+)	`AGTACA/GTATCA`	1	--	us2k¹		0	--	--	--	--
rs897388^1,2	C,F,O,A,H,	--	123318392(-)	`TCACTC/GCACCA`	1	--	us2k¹		20		NA EA NS WA CSA	1041
rs183585787^1,2		--	123318400(+)	`TGACAA/GGAGAG`	1	--	us2k¹		0	--	--	--	--
rs146459385^1,2		--	123318455(+)	`TGGAGA/GGTGAG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HIP1R (123319000 - 123347507 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for HIP1R
     6 CNVs: 48969 48968 48970 48972 48973 48971
     3 Indels: 11645 24882 11644
     1 Inversion: 37133

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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HIP1R for disorders           About GeneDecksing

OMIM gene information: 605613    OMIM disorders: --

3 diseases for HIP1R:    About MalaCards

bipolar affective disorder parkinson's disease neuronitis

Human Genome Epidemiology (HuGE) Navigator: HIP1R (3 documents)

Export disorders for HIP1R gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for HIP1R gene, integrated from 9 sources (see all 35):
(articles sorted by number of sources associating them with HIP1R)

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Structural definition of the F-actin-binding THATCH domain from HIP1R. (PubMed id 16415883)^{1, 2, 3} Brett T.J.... Fremont D.H. (2006)
HIP1 and HIP1r stabilize receptor tyrosine kinases and bind 3- phosphoinositides via epsin N-terminal homology domains. (PubMed id 14732715)^{1, 2, 9} Hyun T.S.... Ross T.S. (2004)
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. (PubMed id 15533940)^{1, 2, 9} Chen C.-Y. and Brodsky F.M. (2005)
Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1). (PubMed id 9852681)^{1, 2, 9} Seki N.... Saito T. (1998)
HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain. (PubMed id 11889126)^{1, 2} Legendre-Guillemin V.... McPherson P.S. (2002)
HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin. (PubMed id 11063258)^{1, 2} Chopra V.S.... Hayden M.R. (2000)
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. (PubMed id 9734811)^{1, 2} Ishikawa K.... Ohara O. (1998)
HIP1R interacts with a member of Bcl-2 family, BCL2L10, and induces BAK-dependent cell death. (PubMed id 19255499)^{1, 9} Kim J.H....Bae J. (2009)
Degenerative phenotypes caused by the combined deficiency of murine HIP1 and HIP1r are rescued by human HIP1. (PubMed id 17452370)^{1, 9} Bradley S.V....Ross T.S. (2007)
Clathrin light chains function in mannose phosphate receptor trafficking via regulation of actin assembly. (PubMed id 18165318)^{1, 9} Poupon V....McPherson P.S. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 9026	HGNC: 18415	AceView: HIP1R	Ensembl:ENSG00000130787	euGenes: HUgn9026
ECgene: HIP1R	H-InvDB: HIP1R

(According to HUGE)
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HUGE: KIAA0655

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HIP1R	Pharmacogenomics, SNPs, Pathways

Intellectual Property for HIP1R gene
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Patent Information for HIP1R gene:
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