Aliases for HIRIP3 Gene
External Ids for HIRIP3 Gene
- HGNC: 4917
- Entrez Gene: 8479
- Ensembl: ENSG00000149929
- OMIM: 603365
- UniProtKB: Q9BW71
Previous GeneCards Identifiers for HIRIP3 Gene
- GC16P029153
- GC16M030326
- GC16M030002
- GC16M030041
- GC16M029911
- GC16M030005
- GC16M027665
Summaries for HIRIP3 Gene
-
The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Aug 2011]
GeneCards Summary for HIRIP3 Gene
HIRIP3 (HIRA Interacting Protein 3) is a Protein Coding gene. Diseases associated with HIRIP3 include Velocardiofacial Syndrome.
UniProtKB/Swiss-Prot for HIRIP3 Gene
-
May play a role in chromatin function and histone metabolism via its interaction with HIRA and histones.
Additional gene information for HIRIP3 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIRIP3 Gene
Genomics for HIRIP3 Gene
GeneHancer (GH) Regulatory Elements for HIRIP3 Gene
Promoters and enhancers for HIRIP3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around HIRIP3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the HIRIP3 gene promoter:
-
- E2F-5
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- AREB6
- ARP-1
- RORalpha1
- Nkx2-5
Regulatory Element Products
Genomic Locations for HIRIP3 Gene
Genomic Locations for HIRIP3 Gene
- chr16:29,992,321-29,996,436
- (GRCh38/hg38)
- Size:
- 4,116 bases
- Orientation:
- Minus strand
- chr16:30,003,645-30,007,757
- (GRCh37/hg19)
- Size:
- 4,113 bases
- Orientation:
- Minus strand
Genomic View for HIRIP3 Gene
Genes around HIRIP3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by Entrez Gene
- 16p11.2 by HGNC
- 16p11.2 by Ensembl
HIRIP3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HIRIP3 Gene
Proteins for HIRIP3 Gene
-
Protein details for HIRIP3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BW71-HIRP3_HUMAN
- Recommended name:
- HIRA-interacting protein 3
- Protein Accession:
- Q9BW71
- H3BSR3
- O75707
- O75708
Protein attributes for HIRIP3 Gene
- Size:
- 556 amino acids
- Molecular mass:
- 61957 Da
- Quaternary structure:
-
- Interacts with HIRA. Weak interaction with histones H2B and H3. Interacts with CK2.
Protein Expression for HIRIP3 Gene
Post-translational modifications for HIRIP3 Gene
- Phosphorylated by CK2.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for HIRIP3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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- Invitrogen Antibodies for HIRIP3 (AFLGC-HIRIP3)
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-
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-
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Protein Products
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-
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-
Abcam proteins for HIRIP3
Assay Products
No data available for DME Specific Peptides for HIRIP3 Gene
Domains & Families for HIRIP3 Gene
Gene Families for HIRIP3 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for HIRIP3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIRIP3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for HIRIP3 Gene
Function for HIRIP3 Gene
Molecular function for HIRIP3 Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in chromatin function and histone metabolism via its interaction with HIRA and histones.
- GENATLAS Biochemistry:
- HIRA-interacting protein 3,widely expressed an histone (H2B,H3) binding protein,directly interacting with the WD-repeat protein HIRA
Phenotypes From GWAS Catalog for HIRIP3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 9710638 |
Phenotypes for HIRIP3 Gene
- GenomeRNAi human phenotypes for HIRIP3:
Animal Model Products
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-
CRISPR Products
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miRNA for HIRIP3 Gene
- miRTarBase miRNAs that target HIRIP3
-
- hsa-mir-877-3p (MIRT037067)
- hsa-mir-4443 (MIRT451575)
- hsa-mir-7847-3p (MIRT451576)
- hsa-mir-6825-5p (MIRT451577)
- hsa-mir-6880-5p (MIRT451578)
- hsa-mir-7106-5p (MIRT451579)
- hsa-mir-449b-5p (MIRT451580)
- hsa-mir-449a (MIRT451581)
- hsa-mir-34c-5p (MIRT451582)
- hsa-mir-34a-5p (MIRT451583)
- hsa-mir-6851-5p (MIRT451584)
- hsa-mir-3689d (MIRT451585)
- hsa-mir-650 (MIRT451586)
- hsa-mir-3612 (MIRT451587)
- hsa-mir-765 (MIRT451588)
- hsa-mir-6134 (MIRT451589)
- hsa-mir-1827 (MIRT451590)
- hsa-mir-1972 (MIRT451591)
- hsa-mir-449c-5p (MIRT451592)
- hsa-mir-34b-5p (MIRT451593)
- hsa-mir-2682-5p (MIRT451594)
- hsa-mir-1911-3p (MIRT451595)
- hsa-mir-6822-5p (MIRT486105)
- hsa-mir-6750-5p (MIRT486106)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HIRIP3
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-
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Cell Line Products
-
Horizon Cell Lines for HIRIP3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIRIP3 Gene
Localization for HIRIP3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIRIP3 Gene
- Nucleus. Note=Nuclear throughout the cell cycle and is excluded from condensed chromatin during mitosis.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| golgi apparatus | 1 |
- Nucleus (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,IDA | 17391060 |
| GO:0005730 | nucleolus | IDA | -- |
Pathways & Interactions for HIRIP3 Gene
No Data Available
Interacting Proteins for HIRIP3 Gene
GPS-Prot Interaction Network for HIRIP3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006333 | chromatin assembly or disassembly | TAS | 9710638 |
No data available for Pathways by source and SIGNOR curated interactions for HIRIP3 Gene
Transcripts for HIRIP3 Gene
mRNA/cDNA for HIRIP3 Gene
- (2) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (189) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000279392 3388 bps (uc002dve.4)
- ENST00000564026 988 bps (uc002dvf.4)
- ENST00000563053 1686 bps (uc021tgg.2)
- ENST00000563680 755 bps (uc059sxe.1)
- ENST00000566471 607 bps (uc059sxf.1)
Unigene Clusters for HIRIP3 Gene
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIRIP3
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HIRIP3
- Applied Biological Materials Clones for HIRIP3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c |
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| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - |
Expression for HIRIP3 Gene
This gene is overexpressed in Cervix (38.7) and Peripheral blood mononuclear cells (7.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIRIP3 Gene
NURSA nuclear receptor signaling pathways regulating expression of HIRIP3 Gene:
HIRIP3SOURCE GeneReport for Unigene cluster for HIRIP3 Gene:
Hs.567370mRNA Expression by UniProt/SwissProt for HIRIP3 Gene:
Q9BW71-HIRP3_HUMAN
Tissue specificity:
Widely expressed. Isoform 1 is predominant in skeletal muscle. Isoform 2 is predominant in liver and heart.
Evidence on tissue expression from TISSUES for HIRIP3 Gene
- Liver(4.3)
- Blood(4.2)
- Skin(4.2)
- Nervous system(3.8)
Primer Products
-
OriGene qPCR primer pairs for HIRIP3
-
OriGene qPCR primer pairs and template standards for HIRIP3
- genomics-online: primer clones - Search results for 88 available HIRIP3 gene related products
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Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIRIP3 Gene
Orthologs for HIRIP3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HIRIP3 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HIRIP3 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HIRIP3 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Hirip3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Hirip3 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HIRIP3 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HIRIP3 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | hirip3 34 |
|
OneToOne |
- Species where no ortholog for HIRIP3 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)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- 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)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for HIRIP3 Gene
- ENSEMBL:
- Gene Tree for HIRIP3 (if available)
- TreeFam:
- Gene Tree for HIRIP3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HIRIP3: view image
Paralogs for HIRIP3 Gene
No data available for Paralogs for HIRIP3 Gene
Variants for HIRIP3 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000638423 | -- | 29,994,476(-) | A/G | coding_sequence_variant, intron_variant, synonymous_variant | |
| rs1001278787 | -- | 29,998,006(-) | A/G | upstream_transcript_variant | |
| rs1001640977 | -- | 29,995,506(-) | G/A | intron_variant | |
| rs1002589261 | -- | 29,991,940(-) | C/G | downstream_transcript_variant | |
| rs1003059588 | -- | 29,995,361(-) | C/T | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3638378 | CNV | loss | 21293372 |
| esv997840 | CNV | deletion | 20482838 |
Residual Variation Intolerance Score:
50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.46;
54.94% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HIRIP3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HIRIP3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIRIP3 Gene
Disorders for HIRIP3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| velocardiofacial syndrome |
|
|
Search HIRIP3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for HIRIP3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for HIRIP3 Gene
Publications for HIRIP3 Gene
- Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA. (PMID: 9710638) Lorain S … Lipinski M (Molecular and cellular biology 1998) 2 3 4 22 58
- HIRIP3 is a nuclear phosphoprotein interacting with and phosphorylated by the serine-threonine kinase CK2. (PMID: 17391060) Assrir N … Lipinski M (Biological chemistry 2007) 3 4 22 58
- Association and mutation analyses of 16p11.2 autism candidate genes. (PMID: 19242545) Kumar RA … Christian SL (PloS one 2009) 3 44 58
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
Products for HIRIP3 Gene
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Sources for HIRIP3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
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