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Aliases for HABP4 Gene

Aliases for HABP4 Gene

  • Hyaluronan Binding Protein 4 2 3 5
  • Ki-1/57 Intracellular Antigen 3 4
  • IHABP-4 3 4
  • IHABP4 3 4
  • Chromodomain Helicase DNA Binding Protein 3 Interacting Protein 3
  • Intracellular Antigen Detected By Monoclonal Antibody Ki-1 3
  • Intracellular Hyaluronan-Binding Protein 4 3
  • Hyaluronan-Binding Protein 4 4
  • Ki-1/57 3
  • SERBP1L 3

External Ids for HABP4 Gene

Previous GeneCards Identifiers for HABP4 Gene

  • GC09P090026
  • GC09P090956
  • GC09P092669
  • GC09P094592
  • GC09P096292
  • GC09P098252
  • GC09P099212
  • GC09P068823

Summaries for HABP4 Gene

GeneCards Summary for HABP4 Gene

HABP4 (Hyaluronan Binding Protein 4) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is SERBP1.

UniProtKB/Swiss-Prot for HABP4 Gene

  • RNA-binding protein that plays a role in the regulation of transcription, pre-mRNA splicing and mRNA translation (PubMed:14699138, PubMed:16455055, PubMed:19523114, PubMed:21771594). Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress (By similarity). Plays a role in pre-mRNA splicing regulation (PubMed:19523114). Binds (via C-terminus) to poly(U) RNA (PubMed:19523114). Involved in mRNA translation regulation, probably at the initiation step (PubMed:21771594).

Gene Wiki entry for HABP4 Gene

Additional gene information for HABP4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HABP4 Gene

Genomics for HABP4 Gene

GeneHancer (GH) Regulatory Elements for HABP4 Gene

Promoters and enhancers for HABP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J096449 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 664.3 +0.5 459 2.3 PKNOX1 ATF1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF143 FOS HABP4 NUTM2G ERCC6L2 ENSG00000271155 ANKRD18CP CDC14B ZNF510 LOC105376163
GH09J096416 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -31.2 -31178 5.4 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ZNF367 PIR44583 ERCC6L2 ENSG00000271155 ZNF782 ZNF322P1 EIF4BP3 ENSG00000254633 NUTM2G MFSD14C
GH09J096381 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 8 -66.0 -66012 4.8 FOXA2 ARID4B SIN3A DMAP1 ZNF48 ETS1 FOS RXRA SP5 REST SLC35D2 HABP4 LOC441455 CDC14B LOC100421693 ZNF367
GH09J096485 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.9 +36.7 36680 2.6 TFAP4 ATF1 YY1 ZNF316 POLR2A ATF7 CREM NFIA TEAD1 RXRA HABP4 LOC105376163
GH09J096490 Enhancer 1.1 ENCODE dbSUPER 12.9 +41.9 41853 2.4 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 NFKBIZ PAF1 RXRA HABP4 ERCC6L2 LOC105376163 CDC14B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HABP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HABP4 gene promoter:
  • p53
  • p300
  • AP-2gamma
  • Ik-1
  • E4BP4
  • LUN-1
  • FOXJ2 (long isoform)
  • FOXJ2

Genomic Locations for HABP4 Gene

Genomic Locations for HABP4 Gene
chr9:96,450,155-96,491,336
(GRCh38/hg38)
Size:
41,182 bases
Orientation:
Plus strand
chr9:99,212,414-99,253,618
(GRCh37/hg19)
Size:
41,205 bases
Orientation:
Plus strand

Genomic View for HABP4 Gene

Genes around HABP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HABP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HABP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HABP4 Gene

Proteins for HABP4 Gene

  • Protein details for HABP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JVS0-HABP4_HUMAN
    Recommended name:
    Intracellular hyaluronan-binding protein 4
    Protein Accession:
    Q5JVS0
    Secondary Accessions:
    • O75804
    • Q8WV33
    • Q9NYJ2

    Protein attributes for HABP4 Gene

    Size:
    413 amino acids
    Molecular mass:
    45785 Da
    Quaternary structure:
    • Associates with polysomes (PubMed:21771594). Interacts with FMR1 (PubMed:21771594). Interacts with FXR1 and FXR2 (PubMed:21771594). Interacts with CHD3 (via C-terminus) (PubMed:12505151). Interacts (via C-terminus) with RACK1 (PubMed:14699138). Interacts with p53/TP53 (PubMed:16455055). Interacts (via N-terminus) with SRSF9; this interaction is direct (PubMed:19523114). Interacts with SYNCRIP; this interaction is direct (PubMed:19523114). Interacts with MEF2C (via N-terminus); this interaction decreases DNA-binding activity of MEF2C in myocardial cells in response to mechanical stress (PubMed:15862299). Interacts with PRMT1 (via N-terminus) (PubMed:16879614). Interacts with SPIN1 (By similarity).
    Miscellaneous:
    • Able to bind hyaluronan. However, its intracellular localization suggests that this interaction may not be relevant in vivo.
    • The interaction with RACK1 is abolished upon activation of L540 tumor cells with PMA, which results in phosphorylation and exit of HABP4 from the nucleus.

    Alternative splice isoforms for HABP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HABP4 Gene

Post-translational modifications for HABP4 Gene

  • Methylated (PubMed:16879614). Methylation is decreased by phorbol 12-myristate 13-acetate (PMA)-activated PKC, in vitro (PubMed:16879614).
  • Phosphorylated by phorbol 12-myristate 13-acetate (PMA)-activated PKC isoforms at Thr-354 and Thr-375.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HABP4 Gene

No data available for DME Specific Peptides for HABP4 Gene

Domains & Families for HABP4 Gene

Gene Families for HABP4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HABP4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HABP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5JVS0

UniProtKB/Swiss-Prot:

HABP4_HUMAN :
  • The C-terminal region is necessary for nucleus and cytoplasmic localization (PubMed:19523114). The N-terminal region is necessary for nucleus and nuclear bodies localization (PubMed:19523114). Regions containing Arg-Gly-Gly repeats (RGG/RXR-box) may be preferentially methylated by PRMT1 (PubMed:16879614).
Domain:
  • The C-terminal region is necessary for nucleus and cytoplasmic localization (PubMed:19523114). The N-terminal region is necessary for nucleus and nuclear bodies localization (PubMed:19523114). Regions containing Arg-Gly-Gly repeats (RGG/RXR-box) may be preferentially methylated by PRMT1 (PubMed:16879614).
genes like me logo Genes that share domains with HABP4: view

Function for HABP4 Gene

Molecular function for HABP4 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that plays a role in the regulation of transcription, pre-mRNA splicing and mRNA translation (PubMed:14699138, PubMed:16455055, PubMed:19523114, PubMed:21771594). Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress (By similarity). Plays a role in pre-mRNA splicing regulation (PubMed:19523114). Binds (via C-terminus) to poly(U) RNA (PubMed:19523114). Involved in mRNA translation regulation, probably at the initiation step (PubMed:21771594).

Phenotypes From GWAS Catalog for HABP4 Gene

Gene Ontology (GO) - Molecular Function for HABP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 15862299
genes like me logo Genes that share ontologies with HABP4: view
genes like me logo Genes that share phenotypes with HABP4: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HABP4 Gene

Localization for HABP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HABP4 Gene

Nucleus. Cytoplasm. Cytoplasm, Stress granule. Cytoplasm, sarcoplasm. Nucleus, Nuclear body. Nucleus, nucleolus. Nucleus speckle. Nucleus, Cajal body. Nucleus, gem. Note=Transported into the nuclear compartment in activated leukocytes (PubMed:9523163). Inhibition of methylation alters its distribution between the nuclear and cytoplasmic compartments (PubMed:16879614, PubMed:19523114). Methylation may be required for its localization in subnuclear structures, such as nucleoli, nuclear speckles, Cajal bodies and Gemini of coiled bodies (gems) (PubMed:19523114). Colocalizes with FMR1, FXR1 and FXR2 in cytoplasmic stress granules (PubMed:21771594). In myocardial cells, localization at the sarcoplasm is reduced in response to mechanical stress (By similarity). {ECO:0000250 UniProtKB:A1L1K8, ECO:0000269 PubMed:16879614, ECO:0000269 PubMed:19523114, ECO:0000269 PubMed:21771594, ECO:0000269 PubMed:9523163}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HABP4 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HABP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus ISS --
GO:0005730 nucleolus IDA,IEA 19523114
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HABP4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HABP4 Gene

Pathways & Interactions for HABP4 Gene

genes like me logo Genes that share pathways with HABP4: view

Gene Ontology (GO) - Biological Process for HABP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006397 mRNA processing IEA --
GO:0006417 regulation of translation IEA --
genes like me logo Genes that share ontologies with HABP4: view

No data available for SIGNOR curated interactions for HABP4 Gene

Drugs & Compounds for HABP4 Gene

(1) Drugs for HABP4 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma Target, binder 535
genes like me logo Genes that share compounds with HABP4: view

Transcripts for HABP4 Gene

mRNA/cDNA for HABP4 Gene

Unigene Clusters for HABP4 Gene

Hyaluronan binding protein 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HABP4 Gene

No ASD Table

Relevant External Links for HABP4 Gene

GeneLoc Exon Structure for
HABP4
ECgene alternative splicing isoforms for
HABP4

Expression for HABP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HABP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HABP4 Gene

This gene is overexpressed in Amniocyte (23.0), Pancreatic juice (9.9), and Fetal Brain (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HABP4 Gene



NURSA nuclear receptor signaling pathways regulating expression of HABP4 Gene:

HABP4

SOURCE GeneReport for Unigene cluster for HABP4 Gene:

Hs.494567

mRNA Expression by UniProt/SwissProt for HABP4 Gene:

Q5JVS0-HABP4_HUMAN
Tissue specificity: Highly expressed in brain, heart, and kidney, and moderately expressed in skeletal muscle. Also expressed in a variety of tumor cell lines and in activated but not resting leukocytes.

Evidence on tissue expression from TISSUES for HABP4 Gene

  • Liver(4.1)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with HABP4: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HABP4 Gene

Orthologs for HABP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for HABP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HABP4 34 33
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HABP4 34 33
  • 88.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HABP4 34 33
  • 88.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Habp4 33
  • 85.24 (n)
mouse
(Mus musculus)
Mammalia Habp4 16 34 33
  • 85 (n)
oppossum
(Monodelphis domestica)
Mammalia HABP4 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves HABP4 34 33
  • 63.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HABP4 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia habp4 33
  • 55.59 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:103482 33
  • 59.97 (n)
HABP4 34
  • 47 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8747 33
fruit fly
(Drosophila melanogaster)
Insecta CG41503 34
  • 23 (a)
ManyToMany
vig2 34
  • 21 (a)
ManyToMany
vig 34
  • 20 (a)
ManyToMany
Species where no ortholog for HABP4 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)
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HABP4 Gene

ENSEMBL:
Gene Tree for HABP4 (if available)
TreeFam:
Gene Tree for HABP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HABP4: view image

Paralogs for HABP4 Gene

Paralogs for HABP4 Gene

(2) SIMAP similar genes for HABP4 Gene using alignment to 1 proteins:

  • HABP4_HUMAN
genes like me logo Genes that share paralogs with HABP4: view

Variants for HABP4 Gene

Sequence variations from dbSNP and Humsavar for HABP4 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000106559 -- 96,491,192(+) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1000153283 -- 96,448,291(+) G/T upstream_transcript_variant
rs1000185001 -- 96,468,632(+) A/G intron_variant
rs1000205945 -- 96,457,822(+) T/A intron_variant
rs1000329713 -- 96,461,641(+) C/G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HABP4 Gene

Variant ID Type Subtype PubMed ID
dgv12803n54 CNV loss 21841781
dgv12804n54 CNV loss 21841781
esv22781 CNV loss 19812545
esv2669547 CNV deletion 23128226
esv3545168 CNV deletion 23714750
esv3621165 CNV loss 21293372
nsv1147999 OTHER inversion 26484159
nsv472681 CNV novel sequence insertion 20440878
nsv614924 CNV loss 21841781
nsv614930 CNV loss 21841781
nsv614933 CNV loss 21841781
nsv824998 CNV gain 20364138
nsv950906 CNV deletion 24416366

Variation tolerance for HABP4 Gene

Residual Variation Intolerance Score: 55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HABP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HABP4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HABP4 Gene

Disorders for HABP4 Gene

Additional Disease Information for HABP4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for HABP4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HABP4 Gene

Publications for HABP4 Gene

  1. Molecular characterization of a novel intracellular hyaluronan-binding protein. (PMID: 10887182) Huang L … Toole BP (The Journal of biological chemistry 2000) 2 3 4 22 58
  2. Ki-1/57 interacts with RACK1 and is a substrate for the phosphorylation by phorbol 12-myristate 13-acetate-activated protein kinase C. (PMID: 14699138) Nery FC … Kobarg J (The Journal of biological chemistry 2004) 3 4 22 58
  3. Characterization, mapping and partial cDNA sequence of the 57-kD intracellular Ki-1 antigen. (PMID: 9523163) Kobarg J … Hansen HP (Experimental and clinical immunogenetics 1997) 2 3 4 58
  4. Evidence for the association of the human regulatory protein Ki-1/57 with the translational machinery. (PMID: 21771594) Gonçalves Kde A … Kobarg J (FEBS letters 2011) 3 4 58
  5. Confirmation of linkage to and localization of familial colon cancer risk haplotype on chromosome 9q22. (PMID: 20551049) Gray-McGuire C … Wiesner GL (Cancer research 2010) 3 44 58

Products for HABP4 Gene

Sources for HABP4 Gene

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