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Set Analyses:

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HIP1 Gene

protein-coding GIFtS: 65
GCID: GC07M075162

Huntingtin Interacting Protein 1

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Huntingtin Interacting Protein 1¹ ²
Huntingtin-Interacting Protein I² ³
HIP-I² ³
ILWEQ²
Huntingtin-Interacting Protein 1²
HIP-1³

External Ids:	HGNC: 4913¹	Entrez Gene: 3092²	Ensembl: ENSG00000127946⁷	OMIM: 601767⁵	UniProtKB: O00291³

Export aliases for HIP1 gene to outside databases

Previous GC identifers: GC07M073699 GC07M074762 GC07M074776 GC07M074777 GC07M074808 GC07M075001 GC07M070249

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HIP1 Gene:

The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and

protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this

interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants.

(provided by RefSeq, Jul 2013)

GeneCards Summary for HIP1 Gene:

HIP1 (huntingtin interacting protein 1) is a protein-coding gene. Diseases associated with HIP1 include huntington's disease, and chronic myelomonocytic leukemia. GO annotations related to this gene include actin binding and phosphatidylinositol binding. An important paralog of this gene is TLN2.

UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291

Function: Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor

trafficking in the central nervous system in an NMDA-dependent manner. Enhances androgen receptor (AR)-mediated

transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic

apoptosis pathway. 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. May play a functional

role in the cell filament networks. May be required for differentiation, proliferation, and/or survival of

somatic and germline progenitors

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000007.14 NT_007933.16 NC_018918.2

Regulatory elements:

Regulatory transcription factor binding sites in the HIP1 gene promoter:
AML1a Tal-1 AP-2alpha isoform 3 AP-4 AP-2alpha isoform 2 AP-2gamma E47 AP-2alpha isoform 4 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): HIP1 promoter sequence

Search Chromatin IP Primers for HIP1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HIP1

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

Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.23

HIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIP1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M075162: view genomic region (about GC identifiers)

Start:	75,162,621 bp from pter	End:	75,368,280 bp from pter
Size:	205,660 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 74,496,473-74,701,343

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291 (See protein sequence)

Recommended Name: Huntingtin-interacting protein 1

Size: 1037 amino acids; 116221 Da

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

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

Sequence caution: Sequence=AAC51257.1; Type=Erroneous initiation;

3 PDB 3D structures from and Proteopedia for HIP1:

2NO2 (3D)

2QA7 (3D)

3I00 (3D)

Secondary accessions: B4E3I7 E7ES17 O00328 Q2TB58 Q8TDL4

Alternative splicing: 3 isoforms: O00291-1 O00291-2 O00291-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HIP1: NX_O00291

Explore proteomics data for HIP1 at MOPED

Post-translational modifications:

Ubiquitination² at Lys9, Lys17

Modification sites at PhosphoSitePlus

See HIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001230127.1 NP_005329.3

ENSEMBL proteins:

ENSP00000336747 ENSP00000410300 ENSP00000414280

HIP1 Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for HIP1
	Novus Biologicals HIP1 Proteins Novus Biologicals HIP1 Lysate
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	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for HIP1

HIP1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of HIP1
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	OriGene Antibodies for HIP1 OriGene Custom Antibody Services for HIP1
	Novus Biologicals HIP1 Antibodies
	Abcam antibodies for HIP1
	Cloud-Clone Corp. Antibodies for HIP1
	ThermoFisher Antibodies for HIP1
	LSBio Antibodies in human, mouse, rat for HIP1

HIP1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for HIP1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HIP1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for HIP1 Cloud-Clone Corp. CLIAs for HIP1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:

IPR002558 ILWEQ_dom

IPR011417 ANTH_dom

IPR008942 ENTH_VHS

IPR013809 Epsin-like_N

Graphical View of Domain Structure for InterPro Entry O00291

ProtoNet protein and cluster: O00291

3 Blocks protein domains:

IPB001026 Epsin N-terminal homology

IPB002558 I/LWEQ domain

IPB013809 Epsin-like

UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291

Domain: The pseudo DED region (pDED) mediates the interaction with IFT57

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

HIP1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: HIP1_HUMAN, O00291

Function: Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor

trafficking in the central nervous system in an NMDA-dependent manner. Enhances androgen receptor (AR)-mediated

transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic

apoptosis pathway. 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. May play a functional

role in the cell filament networks. May be required for differentiation, proliferation, and/or survival of

somatic and germline progenitors

Genatlas biochemistry entry for HIP1:

huntingtin interacting protein,116kDa,expressed in neurons of the central nervous system,homolog to S.cerevisae

SPa2p,putatively involved in neuronal cytoskeleton function

Gene Ontology (GO): Selected molecular function terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005200	structural constituent of cytoskeleton	TAS	9140394
GO:0005488	binding	--	--
GO:0005515	protein binding	IPI	11788820
GO:0005543	phospholipid binding	--	--

HIP1 for ontologies About GeneDecksing

Phenotypes:
Selected MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Hip1) (see all 17):

behavior/neurological	cellular	endocrine/exocrine gland	growth/size/body	hematopoietic system
homeostasis/metabolism	immune system	liver/biliary system	mortality/aging	muscle
nervous system	normal	reproductive system	respiratory system	skeleton

HIP1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for HIP1: Hip1^tm3Tsr Hip1^tm2.1Tsr Hip1^tm1Tsr

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HIP1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HIP1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HIP1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HIP1

miRNA Products:		Block miRNA regulation of human, mouse, rat HIP1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate HIP1 (see all 57):
		hsa-miR-302d hsa-miR-520e hsa-miR-642a hsa-miR-513a-5p hsa-miR-128 hsa-miR-1245 hsa-miR-29a hsa-miR-3653

		SwitchGear 3'UTR luciferase reporter plasmid: HIP1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for HIP1
		Predesigned siRNA for gene silencing in human, mouse, rat HIP1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HIP1

Clone Products:		OriGene clones in human, mouse for HIP1 (see all 8) OriGene ORF clones in mouse, rat for HIP1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HIP1 (NM_005338)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HIP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIP1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HIP1
		Browse ESI BIO Cell Lines and PureStem Progenitors for HIP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIP1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

HIP1_HUMAN, O00291: Cytoplasm. Nucleus. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle

membrane. Note=Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
golgi apparatus	5
nucleus	5
cytoskeleton	4
cytosol	3
endoplasmic reticulum	1
mitochondrion	1
peroxisome	1
plasma membrane	1

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Gene Ontology (GO): Selected cellular component terms (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IDA	11604514
GO:0005794	Golgi apparatus	IDA	11788820
GO:0005856	cytoskeleton	TAS	9147654
GO:0012505	endomembrane system	--	--

HIP1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for HIP1 About

See pathways by source

SuperPath

Contained pathways About

Clathrin dependent protein traffic

	Clathrin dependent protein traffic	0.66			wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF	0.35
	Transport Clathrin coated vesicle cycle	0.66

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

Huntington's disease

0.45

fMLP Pathway

Huntington's Disease Pathway

0.30

EGFR1 Signaling Pathway

EGFR1 Signaling Pathway

Coregulation of Androgen receptor activity

Coregulation of Androgen receptor activity

Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for HIP1

Huntington's Disease Pathway

2 GeneGo (Thomson Reuters) Pathways for HIP1

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

2 BioSystems Pathways for HIP1

	EGFR1 Signaling Pathway
	Coregulation of Androgen receptor activity

1 Kegg Pathway (Kegg details for HIP1):

Huntington's disease

HIP1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including HIP1:

Huntington's Disease in human mouse rat

Apoptosis 384HT in human mouse rat

Interactions:

GeneGlobe Interaction Network for HIP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for HIP1 (O00291^{1, 2, 3} ENSP00000336747⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 184)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CLTCL1	P53675²^,³	MINT-17143 MINT-17146 MINT-17144 MINT-17145 I2D: score=1
PFDN1	O60925²^,³	MINT-63188 I2D: score=5
MAPK6	Q16659²^,³	MINT-8261241 I2D: score=2
HTT	P42858¹^,²^,³, ENSP00000347184⁴	EBI-473886,EBI-466029 MINT-8385351 MINT-3981386 MINT-3977977 I2D: score=4 STRING: ENSP00000347184
AP2A1	O95782²^,³, ENSP00000351926⁴	MINT-18401 MINT-18402 MINT-18399 MINT-18400 I2D: score=2 STRING: ENSP00000351926

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Gene Ontology (GO): Selected biological process terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-templated	IEA	--
GO:0006355	regulation of transcription, DNA-templated	IEA	--
GO:0006897	endocytosis	IEA	--
GO:0006915	apoptotic process	IDA	11788820
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	11788820

HIP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for HIP1

5 Novoseek inferred chemical compound relationships for HIP1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glutamine	47.6	5	11788820 (3), 14715959 (1)
inositol	38.4	4	14732715 (2), 17452370 (1)
tyrosine	25	7	9616134 (2), 14732715 (2), 10910073 (1), 11588050 (1)
phenylalanine	18.6	1	11007801 (1)
lipid	0	3	14732715 (1), 17440072 (1)

HIP1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for HIP1 gene (2 alternative transcripts):

NM_001243198.2 NM_005338.6

Unigene Cluster for HIP1:

Huntingtin interacting protein 1

Hs.329266 [show with all ESTs]

Unigene Representative Sequence: NM_005338

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

ENST00000336926(uc003uds.2 uc011kfz.2) ENST00000434438 ENST00000404944

ENST00000420909 ENST00000485723 ENST00000479835

miRNA Products:		Block miRNA regulation of human, mouse, rat HIP1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate HIP1 (see all 57):
		hsa-miR-302d hsa-miR-520e hsa-miR-642a hsa-miR-513a-5p hsa-miR-128 hsa-miR-1245 hsa-miR-29a hsa-miR-3653

		SwitchGear 3'UTR luciferase reporter plasmid: HIP1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for HIP1
		Predesigned siRNA for gene silencing in human, mouse, rat HIP1

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		GenScript: all cDNA clones in your preferred vector: HIP1 (NM_005338)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HIP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HIP1

Primer Products:		OriGene qPCR primer pairs and template standards for HIP1 OriGene qSTAR qPCR primer pairs in human, mouse for HIP1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat HIP1
		QuantiTect SYBR Green Assays in human, mouse, rat HIP1
		QuantiFast Probe-based Assays in human, mouse, rat HIP1

Additional mRNA sequence:

AF365404.1 AF486833.1 AK296390.1 AK302382.1 AK304738.1 BC082970.1 BC110545.2 BC139786.1

U79734.1 Y09420.1

11 DOTS entries:

DT.409985 DT.95162272 DT.100658614 DT.70102239 DT.75195481 DT.97858552 DT.91735869 DT.121061226

DT.40118954 DT.75163476 DT.99936096

6 AceView cDNA sequences:

CA427404 AI272229 CA442592 N33381 BM990826 BQ690764

GeneLoc Exon Structure

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HIP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TCTTTCAGGT

About this image

HIP1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 6) fully expand


Brain (Nervous System) fully expand to see all 3 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Bone (Muscoskeletal System)
Bone Marrow

Tooth (Integumentary System)
Dental Papilla Cells Dental Papilla

HIP1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

HIP1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.329266

UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291

Tissue specificity: Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate

and colon cancer

Pathway & Disease-focused RT² Profiler PCR Arrays including HIP1:

Huntington's Disease in human mouse rat

Apoptosis 384HT in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for HIP1 OriGene qSTAR qPCR primer pairs in human, mouse for HIP1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat HIP1
		QuantiTect SYBR Green Assays in human, mouse, rat HIP1
		QuantiFast Probe-based Assays in human, mouse, rat HIP1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIP1

(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)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for HIP1 gene from Selected species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Hip1^{1 , 5}	huntingtin interacting protein 1^{1, 5}	84.87(n)¹ 88.63(a)¹		5 (75.18 cM)⁵ 215114¹ NM_146001.2¹ NP_666113.2¹ 135406523⁵
chicken (Gallus gallus)	Aves	HIP1¹	huntingtin interacting protein 1	76.4(n) 80.14(a)		770683 XM_001232952.2 XP_001232953.2
lizard (Anolis carolinensis)	Reptilia	HIP1⁶	huntingtin interacting protein 1	59(a)	1 ↔ 1	AAWZ02040702(1329-6591)
tropical clawed frog (Xenopus tropicalis)	Amphibia	hip1¹	huntingtin interacting protein 1	68.58(n) 71.68(a)		100496371 XM_002933547.2 XP_002933593.2
zebrafish (Danio rerio)	Actinopterygii	hip1¹	huntingtin interacting protein 1	66.86(n) 69.25(a)		793823 NM_001166205.2 NP_001159677.1
fruit fly (Drosophila melanogaster)	Insecta	CG10971³	cytoskeleton organization and biogenesis actin more	30(a)		69E2 --
worm (Caenorhabditis elegans)	Secernentea	ZK370.3b³ hipr-1¹	hipr-1¹	31(a) (best of 2)³ 44.74(n)¹ 37.21(a)¹		III(8791926-8796528)³ 176224¹ NM_066524.3¹ NP_498925.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	SLA2⁶	Transmembrane actin-binding protein involved in me...	21(a)	1 → many	XIV(188051-190957) YNL243W

ENSEMBL Gene Tree for HIP1 (if available)
TreeFam Gene Tree for HIP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for HIP1 gene

TLN2² HIP1R² MESDC1² TLN1²

1 SIMAP similar gene for HIP1 using alignment to 5 protein entries: HIP1_HUMAN (see all proteins):

HIP1R

HIP1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189046038^1,2		--	74495184(+)	`GCCTCA/CACCTC`	2	--	ds500¹		0	--	--	--	--
rs74892862^1,2	C,F	--	74495193(+)	`TCCTGG/CGCTGA`	2	--	ds500¹		1		NA	120
rs794369^1,2	C,A	--	74495239(-)	`tgcctG/Atagtc`	2	--	ds500¹		3		NA	124
rs10245394^1,2	C,F,H	--	74495260(+)	`ttcccA/Cgttaa`	2	--	ds500¹		3		NS NA	290
rs192026972^1,2		--	74495278(+)	`GTAGAC/TGGGGT`	2	--	ds500¹		0	--	--	--	--
rs62477737^1,2	C,F	--	74495342(+)	`ACTGCG/AGCCTC`	2	--	ds500¹		5		WA NA	244
rs142973911^1,2	C	--	74495411(+)	`TTTTT-/T/TC TTTTC`	2	--	ds500¹		0	--	--	--	--
rs62477738^1,2	C,F	--	74495458(+)	`GGCAGT/GTCTCT`	2	--	ds500¹		1		NA	2
rs189448832^1,2		--	74495653(+)	`AGCCAC/TGCTGG`	2	--	ds500¹		0	--	--	--	--
rs143125579^1,2		--	74495721(+)	`AAACAC/TAGATG`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HIP1 (75162621 - 75368280 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for HIP1 (see all 29): About this table

Variant ID	Type	Subtype	PubMed ID
esv2734674	CNV	Deletion	23290073
esv1647869	CNV	Deletion	17803354
dgv120n16	CNV	Deletion	17901297
esv2734673	CNV	Deletion	23290073
esv2674202	CNV	Deletion	23128226
esv2734676	CNV	Deletion	23290073
esv2667226	CNV	Deletion	23128226
esv2734675	CNV	Deletion	23290073
esv2421823	CNV	Duplication	20811451
nsv509210	CNV	Insertion	20534489

Human Gene Mutation Database (HGMD): HIP1

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 601767
OMIM disorders: 176807
UniProtKB/Swiss-Prot: HIP1_HUMAN, O00291

Note=A chromosomal aberration involving HIP1 is found in a form of chronic myelomonocytic leukemia

(CMML). Translocation t(5;7)(q33;q11.2) with PDGFRB. The chimeric HIP1-PDGFRB transcript results from an in-frame

fusion of the two genes. The reciprocal PDGFRB-HIP1 transcript is not expressed

Selected diseases for HIP1 (see all 24):
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huntington's disease chronic myelomonocytic leukemia distal hereditary motor neuropathy progeria

myeloproliferative disorder tooth disease charcot-marie-tooth disease merkel cell carcinoma

noma prostate cancer intellectual disability cataract

prostatitis neuropathy systemic lupus erythematosus lupus erythematosus

tonsillitis leukemia thyroiditis multiple myeloma

1 disease from the University of Copenhagen DISEASES database for HIP1:

Huntington's disease

HIP1 for disorders About GeneDecksing

5 Novoseek inferred disease relationships for HIP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
huntington disease	77.5	8	15906374 (1), 9616134 (1), 18637945 (1), 20179344 (1) (see all 6)
leukemia myelomonocytic chronic	75	3	9616134 (1), 10428802 (1), 11287412 (1)
prostate cancer	5.95	7	15899803 (3), 18670643 (1), 16027218 (1)
tumors	0	7	12781365 (3), 15899803 (2), 17440072 (1)
cancer	0	5	17452370 (1), 14998932 (1), 15899803 (1), 15059611 (1)

Genetic Association Database (GAD): HIP1
Human Genome Epidemiology (HuGE) Navigator: HIP1 (1 document)

Export disorders for HIP1 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 HIP1 gene, integrated from 10 sources (see all 88):
(articles sorted by number of sources associating them with HIP1)

Utopia: connect your pdf to the dynamic
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HIP-I: a huntingtin interacting protein isolated by the yeast two- hybrid system. (PubMed id 9147654)^{1, 2, 3, 9} Wanker E.E.... Lehrach H. (Hum. Mol. Genet. 1997)
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. (PubMed id 9140394)^{1, 2, 3, 9} Kalchman M.A.... Hayden M.R. (Nat. Genet. 1997)
Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain. (PubMed id 11007801)^{1, 2, 9} Hackam A.S.... Hayden M.R. (J. Biol. Chem. 2000)
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. (J. Biol. Chem. 2004)
HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2. (PubMed id 11517213)^{1, 2, 9} Metzler M.... Hayden M.R. (J. Biol. Chem. 2001)
Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi. (PubMed id 11788820)^{1, 2, 9} Gervais F.G.... Nicholson D.W. (Nat. Cell Biol. 2002)
Clathrin- and AP-2-binding sites in HIP1 uncover a general assembly role for endocytic accessory proteins. (PubMed id 11577110)^{1, 2, 9} Mishra S.K....Traub L.M. (J. Biol. Chem. 2001)
The huntingtin interacting protein HIP1 is a clathrin and alpha- adaptin-binding protein involved in receptor-mediated endocytosis. (PubMed id 11532990)^{1, 2, 9} Waelter S....Wanker E.E. (Hum. Mol. Genet. 2001)
Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). (PubMed id 9616134)^{1, 2, 9} Ross T.S.... Gilliland D.G. (Blood 1998)
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. (J. Biol. Chem. 2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3092	HGNC: 4913	AceView: HIP1.1	Ensembl:ENSG00000127946	euGenes: HUgn3092
ECgene: HIP1	Kegg: 3092	H-InvDB: HIP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HIP1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for HIP1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for HIP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for HIP1 gene:
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GeneCards and IP:
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HIP1 Gene

Huntingtin Interacting Protein 1

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HIP1 Gene

Huntingtin Interacting Protein 1

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