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Aliases for PROB1 Gene

Aliases for PROB1 Gene

  • Proline Rich Basic Protein 1 2 3 5
  • C5orf65 3 4
  • Weakly Similar To Basic Proline-Rich Protein 3
  • Chromosome 5 Open Reading Frame 65 2
  • Proline-Rich Basic Protein 1 3

External Ids for PROB1 Gene

Previous HGNC Symbols for PROB1 Gene

  • C5orf65

Previous GeneCards Identifiers for PROB1 Gene

  • GC05M138728

Summaries for PROB1 Gene

GeneCards Summary for PROB1 Gene

PROB1 (Proline Rich Basic Protein 1) is a Protein Coding gene. Diseases associated with PROB1 include Keratoconus.

Additional gene information for PROB1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PROB1 Gene

Genomics for PROB1 Gene

GeneHancer (GH) Regulatory Elements for PROB1 Gene

Promoters and enhancers for PROB1 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
GH05I139381 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 553 +6.0 5995 15.5 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 SLC23A1 PROB1 MZB1 DNAJC18 PURA PAIP2 SIL1 MATR3 GC05P139382 SPATA24
GH05I139341 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.6 +53.4 53398 2.6 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 ZNF610 PAIP2 KDM3B PURA RPL7P19 SLC23A1 MZB1 PROB1 MATR3 SNORA74A SIL1
GH05I139413 Enhancer 0.9 Ensembl ENCODE 11.9 -21.3 -21337 6.6 CTCF FEZF1 RAD21 IKZF2 EZH2 SMARCA5 ZNF362 HLF REST EP300 DNAJC18 RNU5B-4P ECSCR PROB1 MZB1 SLC23A1 PAIP2 SIL1 MATR3 GC05P139409
GH05I139422 Enhancer 0.8 ENCODE 11.9 -26.8 -26774 0.2 RB1 ARID4B KLF17 SIN3A ZNF2 ZSCAN9 RAD21 RFX5 ZNF213 ARID2 DNAJC18 RNU5B-4P ECSCR PROB1 MZB1 SLC23A1 PAIP2 SIL1 MATR3 GC05P139409
GH05I139436 Enhancer 0.8 ENCODE 11.1 -41.6 -41627 1.1 HDGF PKNOX1 BMI1 BATF KLF5 IRF4 ZSCAN5C ZNF207 ZNF143 ATF7 DNAJC18 PROB1 MZB1 SLC23A1 GC05P139409 GC05P139410 GC05P138946
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PROB1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PROB1 Gene

Genomic Locations for PROB1 Gene
chr5:139,390,592-139,395,713
(GRCh38/hg38)
Size:
5,122 bases
Orientation:
Minus strand
chr5:138,727,635-138,730,885
(GRCh37/hg19)

Genomic View for PROB1 Gene

Genes around PROB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PROB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PROB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PROB1 Gene

Proteins for PROB1 Gene

  • Protein details for PROB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    E7EW31-PROB1_HUMAN
    Recommended name:
    Proline-rich basic protein 1
    Protein Accession:
    E7EW31
    Secondary Accessions:
    • B4E007

    Protein attributes for PROB1 Gene

    Size:
    1015 amino acids
    Molecular mass:
    106917 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG64269.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAH14854.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for PROB1 Gene

Post-translational modifications for PROB1 Gene

No Post-translational modifications

Other Protein References for PROB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PROB1 Gene

Domains & Families for PROB1 Gene

Gene Families for PROB1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PROB1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PROB1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for PROB1 Gene

Function for PROB1 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PROB1 Gene

Localization for PROB1 Gene

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 PROB1 gene
Compartment Confidence
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PROB1 Gene

Pathways & Interactions for PROB1 Gene

SuperPathways for PROB1 Gene

No Data Available

Interacting Proteins for PROB1 Gene

Gene Ontology (GO) - Biological Process for PROB1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PROB1 Gene

Drugs & Compounds for PROB1 Gene

No Compound Related Data Available

Transcripts for PROB1 Gene

mRNA/cDNA for PROB1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PROB1 Gene

Proline-rich basic protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PROB1 Gene

No ASD Table

Relevant External Links for PROB1 Gene

GeneLoc Exon Structure for
PROB1
ECgene alternative splicing isoforms for
PROB1

Expression for PROB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PROB1 Gene

mRNA differential expression in normal tissues according to GTEx for PROB1 Gene

This gene is overexpressed in Muscle - Skeletal (x17.8) and Heart - Left Ventricle (x7.1).

Protein differential expression in normal tissues from HIPED for PROB1 Gene

This gene is overexpressed in Pancreatic juice (61.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PROB1 Gene



Protein tissue co-expression partners for PROB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PROB1 Gene:

PROB1

SOURCE GeneReport for Unigene cluster for PROB1 Gene:

Hs.729482
genes like me logo Genes that share expression patterns with PROB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PROB1 Gene

Orthologs for PROB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PROB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PROB1 33 34
  • 98.31 (n)
cow
(Bos Taurus)
Mammalia PROB1 33 34
  • 81.04 (n)
dog
(Canis familiaris)
Mammalia PROB1 33 34
  • 79.95 (n)
rat
(Rattus norvegicus)
Mammalia Prob1 33
  • 75.81 (n)
mouse
(Mus musculus)
Mammalia Prob1 33 16 34
  • 75.28 (n)
oppossum
(Monodelphis domestica)
Mammalia PROB1 34
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PROB1 34
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PROB1 34
  • 15 (a)
OneToOne
Species where no ortholog for PROB1 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 PROB1 Gene

ENSEMBL:
Gene Tree for PROB1 (if available)
TreeFam:
Gene Tree for PROB1 (if available)

Paralogs for PROB1 Gene

No data available for Paralogs for PROB1 Gene

Variants for PROB1 Gene

Sequence variations from dbSNP and Humsavar for PROB1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000037209 -- 139,395,931(-) A/G upstream_transcript_variant
rs1000257218 -- 139,393,599(-) T/G coding_sequence_variant, missense_variant
rs1000348803 -- 139,393,322(-) G/A/T coding_sequence_variant, missense_variant
rs1000518419 -- 139,394,934(-) C/T coding_sequence_variant, missense_variant
rs1000591429 -- 139,394,856(-) G/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PROB1 Gene

Variant ID Type Subtype PubMed ID
nsv950410 CNV deletion 24416366

Variation tolerance for PROB1 Gene

Gene Damage Index Score: 13.17; 95.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PROB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PROB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROB1 Gene

Disorders for PROB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PROB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
keratoconus
  • conical cornea
- elite association - COSMIC cancer census association via MalaCards
Search PROB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PROB1

genes like me logo Genes that share disorders with PROB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PROB1 Gene

Publications for PROB1 Gene

  1. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. (PMID: 27703147) Karolak JA … Gajecka M (European journal of human genetics : EJHG 2016) 3 58
  2. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. (PMID: 19240791) Graubert TA … Walter MJ (PloS one 2009) 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
  4. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 4 58

Products for PROB1 Gene

Sources for PROB1 Gene

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