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Aliases for HIP1 Gene

Aliases for HIP1 Gene

  • Huntingtin Interacting Protein 1 2 3 5
  • Huntingtin-Interacting Protein I 3 4
  • HIP-I 3 4
  • Huntingtin-Interacting Protein 1 3
  • SHONgamma 3
  • SHONbeta 3
  • ILWEQ 3
  • HIP-1 4
  • SHON 3

External Ids for HIP1 Gene

Previous GeneCards Identifiers for HIP1 Gene

  • GC07M073699
  • GC07M074762
  • GC07M074776
  • GC07M074777
  • GC07M074808
  • GC07M075001
  • GC07M075162
  • GC07M070249

Summaries for HIP1 Gene

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 Disease and Chronic Myelomonocytic Leukemia. Among its related pathways are Vesicle-mediated transport and Delta508-CFTR traffic / ER-to-Golgi in CF. GO annotations related to this gene include binding and structural constituent of cytoskeleton. An important paralog of this gene is HIP1R.

UniProtKB/Swiss-Prot for HIP1 Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIP1 Gene

Genomics for HIP1 Gene

Regulatory Elements for HIP1 Gene

Enhancers for HIP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F075616 0.9 FANTOM5 Ensembl ENCODE 21.6 +119.7 119672 6.2 CTCF PKNOX1 TAL1 MAX CEBPG EBF1 RARA ZNF316 EED ETV6 HIP1 POR ENSG00000279996 GC07M075581
GH07F075622 1.5 FANTOM5 Ensembl ENCODE 19.6 +115.3 115252 2.2 HDAC1 ATF1 ARNT TBL1XR1 NFRKB CREM NCOA1 CEBPB ZEB2 HDAC8 HIP1 LOC100133091 NSUN5P1 POR ENSG00000279996 GC07M075581
GH07F075637 1.2 FANTOM5 Ensembl ENCODE 17.5 +99.6 99594 3.6 ATF1 ZNF133 SIN3A GLI4 ZNF2 GLIS2 ELK1 KLF7 ZNF263 TSHZ1 HIP1 STAG3L1 NSUN5P1 GTF2IRD2 POR ENSG00000279996 GC07M075738 GC07M075740
GH07F075658 0.7 Ensembl ENCODE 10.5 +80.2 80172 0.8 OSR2 L3MBTL2 GLIS1 ZIC2 SP7 HIP1 ENSG00000279996 GC07M075738 GC07M075740
GH07F075662 1.2 Ensembl ENCODE 8.6 +75.8 75817 1.8 HDGF PKNOX1 ARNT TBL1XR1 BMI1 ZBTB40 GATA2 ETV6 CREM EGR2 HIP1 SPDYE12P ENSG00000279996 GC07M075738 GC07M075740
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HIP1 on UCSC Golden Path with GeneCards custom track

Promoters for HIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000628555 -28 2401 PKNOX1 CREB3L1 ARID4B SIN3A ZNF143 ZNF207 FOS CEBPZ SP3 SP5

Genomic Location for HIP1 Gene

Chromosome:
7
Start:
75,533,298 bp from pter
End:
75,738,972 bp from pter
Size:
205,675 bases
Orientation:
Minus strand

Genomic View for HIP1 Gene

Genes around HIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIP1 Gene

Proteins for HIP1 Gene

  • Protein details for HIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00291-HIP1_HUMAN
    Recommended name:
    Huntingtin-interacting protein 1
    Protein Accession:
    O00291
    Secondary Accessions:
    • B4E3I7
    • E7ES17
    • O00328
    • Q2TB58
    • Q8TDL4
    • V5LU97

    Protein attributes for HIP1 Gene

    Size:
    1037 amino acids
    Molecular mass:
    116221 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAC51257.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HIP1 Gene

    Alternative splice isoforms for HIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIP1 Gene

Post-translational modifications for HIP1 Gene

  • Ubiquitination at Lys 9 and Lys 17
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HIP1 Gene

Domains & Families for HIP1 Gene

Suggested Antigen Peptide Sequences for HIP1 Gene

Graphical View of Domain Structure for InterPro Entry

O00291

UniProtKB/Swiss-Prot:

HIP1_HUMAN :
  • The pseudo DED region (pDED) mediates the interaction with IFT57.
  • Belongs to the SLA2 family.
Domain:
  • The pseudo DED region (pDED) mediates the interaction with IFT57.
  • Binds F-actin via the talin-like I/LWEQ domain.
  • Contains 1 ENTH (epsin N-terminal homology) domain.
  • Contains 1 I/LWEQ domain.
Family:
  • Belongs to the SLA2 family.
genes like me logo Genes that share domains with HIP1: view

No data available for Gene Families for HIP1 Gene

Function for HIP1 Gene

Molecular function for HIP1 Gene

GENATLAS Biochemistry:
huntingtin interacting protein,116kDa,expressed in neurons of the central nervous system,homolog to S.cerevisae SPa2p,putatively involved in neuronal cytoskeleton function
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for HIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005154 epidermal growth factor receptor binding TAS 20074057
GO:0005200 structural constituent of cytoskeleton TAS 9140394
GO:0005515 protein binding IPI 9140394
GO:0005543 phospholipid binding IEA --
GO:0005546 NOT phosphatidylinositol-4,5-bisphosphate binding IDA 14732715
genes like me logo Genes that share ontologies with HIP1: view
genes like me logo Genes that share phenotypes with HIP1: view

Animal Models for HIP1 Gene

MGI Knock Outs for HIP1:

Animal Model Products

miRNA for HIP1 Gene

miRTarBase miRNAs that target HIP1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HIP1 Gene

Localization for HIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIP1 Gene

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
Jensen Localization Image for HIP1 Gene COMPARTMENTS Subcellular localization image for HIP1 gene
Compartment Confidence
cytosol 3
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS 20074057
GO:0005737 cytoplasm IEA,IDA 11604514
GO:0005794 Golgi apparatus IDA 11788820
GO:0005856 cytoskeleton TAS 9147654
GO:0012505 endomembrane system IEA --
genes like me logo Genes that share ontologies with HIP1: view

Pathways & Interactions for HIP1 Gene

genes like me logo Genes that share pathways with HIP1: view

Pathways by source for HIP1 Gene

1 BioSystems pathway for HIP1 Gene
1 KEGG pathway for HIP1 Gene

SIGNOR curated interactions for HIP1 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HIP1 Gene

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 IEA,IDA 11788820
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 11788820
genes like me logo Genes that share ontologies with HIP1: view

Drugs & Compounds for HIP1 Gene

(4) Drugs for HIP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for HIP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HIP1: view

Transcripts for HIP1 Gene

mRNA/cDNA for HIP1 Gene

(6) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HIP1 Gene

Huntingtin interacting protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIP1 Gene

No ASD Table

Relevant External Links for HIP1 Gene

GeneLoc Exon Structure for
HIP1
ECgene alternative splicing isoforms for
HIP1

Expression for HIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HIP1 Gene

Protein differential expression in normal tissues from HIPED for HIP1 Gene

This gene is overexpressed in Breast (9.0) and Bone marrow stromal cell (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HIP1 Gene



Protein tissue co-expression partners for HIP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HIP1 Gene:

HIP1

SOURCE GeneReport for Unigene cluster for HIP1 Gene:

Hs.329266

mRNA Expression by UniProt/SwissProt for HIP1 Gene:

O00291-HIP1_HUMAN
Tissue specificity: Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate and colon cancer.
genes like me logo Genes that share expression patterns with HIP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HIP1 Gene

Orthologs for HIP1 Gene

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

Orthologs for HIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIP1 34 35
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia HIP1 34 35
  • 88.22 (n)
cow
(Bos Taurus)
Mammalia HIP1 34 35
  • 87.4 (n)
rat
(Rattus norvegicus)
Mammalia Hip1 34
  • 85.46 (n)
mouse
(Mus musculus)
Mammalia Hip1 34 16 35
  • 84.87 (n)
oppossum
(Monodelphis domestica)
Mammalia HIP1 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HIP1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIP1 34 35
  • 76.4 (n)
lizard
(Anolis carolinensis)
Reptilia HIP1 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hip1 34
  • 68.58 (n)
zebrafish
(Danio rerio)
Actinopterygii hip1 34 35
  • 66.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10971 36
  • 30 (a)
Hip1 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hipr-1 34
  • 44.74 (n)
tag-138 35
  • 35 (a)
ManyToMany
ZK370.3a 36
  • 31 (a)
ZK370.3b 36
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLA2 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
ManyToMany
-- 35
  • 52 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU11202 34
  • 44.68 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes end4 34
  • 42.44 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11706 34
Species where no ortholog for HIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HIP1 Gene

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

Paralogs for HIP1 Gene

Paralogs for HIP1 Gene

(1) SIMAP similar genes for HIP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with HIP1: view

Variants for HIP1 Gene

Sequence variations from dbSNP and Humsavar for HIP1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs117129747 Benign 75,553,503(+) GCTGT(C/T)GGCAT reference, missense
rs10046533 -- 75,657,477(+) gtgag(C/G)cgaga intron-variant
rs10046542 -- 75,553,301(+) gcacc(C/G/T)ggccA intron-variant
rs1015876 -- 75,666,774(+) ACCTG(G/T)GACCA intron-variant
rs1015877 -- 75,666,894(+) ACGCT(C/G)CATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HIP1 Gene

Variant ID Type Subtype PubMed ID
dgv11453n54 CNV gain 21841781
dgv11454n54 CNV gain 21841781
dgv120n16 CNV deletion 17901297
dgv1925e212 CNV gain 25503493
dgv1926e212 CNV gain 25503493
dgv1927e212 CNV loss 25503493
dgv3596n106 CNV deletion 24896259
dgv6468n100 CNV gain 25217958
esv1647869 CNV deletion 17803354
esv22251 CNV gain 19812545
esv2421823 CNV duplication 20811451
esv2667226 CNV deletion 23128226
esv2674202 CNV deletion 23128226
esv2764051 CNV gain+loss 21179565
esv3541916 CNV deletion 23714750
esv3541919 CNV deletion 23714750
esv3576385 CNV gain 25503493
esv3613723 CNV loss 21293372
esv3613724 CNV loss 21293372
esv3613725 CNV loss 21293372
esv3613726 CNV gain 21293372
esv3613727 CNV gain 21293372
esv3613728 CNV loss 21293372
esv3613729 CNV gain 21293372
esv3613730 CNV loss 21293372
nsv1074518 CNV deletion 25765185
nsv1128952 CNV duplication 24896259
nsv1129784 CNV tandem duplication 24896259
nsv1137257 CNV deletion 24896259
nsv1161564 CNV duplication 26073780
nsv366198 CNV deletion 16902084
nsv441991 CNV gain 18776908
nsv464564 CNV gain 19166990
nsv509209 CNV insertion 20534489
nsv509210 CNV insertion 20534489
nsv515696 CNV gain 19592680
nsv518028 CNV gain 19592680
nsv523858 CNV loss 19592680
nsv527399 CNV gain 19592680
nsv528166 CNV gain 19592680
nsv528969 CNV gain 19592680
nsv607510 CNV loss 21841781
nsv607515 CNV gain 21841781
nsv607516 CNV gain 21841781
nsv818517 CNV gain 17921354
nsv831036 CNV loss 17160897
nsv951357 CNV duplication 24416366
nsv956995 CNV deletion 24416366
nsv958446 CNV deletion 24416366

Variation tolerance for HIP1 Gene

Residual Variation Intolerance Score: 8.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HIP1 Gene

Human Gene Mutation Database (HGMD)
HIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIP1 Gene

Disorders for HIP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HIP1 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • congenital anomalies of kidney and urinary tract 2
chronic myelomonocytic leukemia
  • leukemia, myelomonocytic, chronic
prostate cancer
  • prostate cancer, hereditary, 5
- elite association - COSMIC cancer census association via MalaCards
Search HIP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HIP1_HUMAN
  • 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 (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). {ECO:0000269 PubMed:9616134}.

Relevant External Links for HIP1

Genetic Association Database (GAD)
HIP1
Human Genome Epidemiology (HuGE) Navigator
HIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIP1
genes like me logo Genes that share disorders with HIP1: view

No data available for Genatlas for HIP1 Gene

Publications for HIP1 Gene

  1. HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. (PMID: 9140394) Kalchman M.A. … Hayden M.R. (Nat. Genet. 1997) 2 3 4 22 64
  2. HIP-I: a huntingtin interacting protein isolated by the yeast two- hybrid system. (PMID: 9147654) Wanker E.E. … Lehrach H. (Hum. Mol. Genet. 1997) 2 3 4 22 64
  3. Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. (PMID: 16847693) Metzger S. … Riess O. (Hum. Genet. 2006) 3 22 46 64
  4. 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. (PMID: 15533940) Chen C.-Y. … Brodsky F.M. (J. Biol. Chem. 2005) 3 4 22 64
  5. Huntingtin interacting protein 1 modulates the transcriptional activity of nuclear hormone receptors. (PMID: 16027218) Mills I.G. … Neal D.E. (J. Cell Biol. 2005) 3 4 22 64

Products for HIP1 Gene

Sources for HIP1 Gene

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