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Aliases for RAI14 Gene

Aliases for RAI14 Gene

  • Retinoic Acid Induced 14 2 3 5
  • Ankyrin Repeat And Coiled-Coil Structure-Containing Protein 3 4
  • Novel Retinal Pigment Epithelial Cell Protein 3 4
  • Retinoic Acid-Induced Protein 14 3 4
  • NORPEG 3 4
  • Novel Retinal Pigment Epithelial 2
  • Ankycorbin 3
  • KIAA1334 4
  • RAI13 3

External Ids for RAI14 Gene

Previous GeneCards Identifiers for RAI14 Gene

  • GC05P034689
  • GC05P035682
  • GC05P034702
  • GC05P034692

Summaries for RAI14 Gene

GeneCards Summary for RAI14 Gene

RAI14 (Retinoic Acid Induced 14) is a Protein Coding gene. An important paralog of this gene is UACA.

UniProtKB/Swiss-Prot for RAI14 Gene

  • Plays a role in actin regulation at the ectoplasmic specialization, a type of cell junction specific to testis. Important for establishment of sperm polarity and normal spermatid adhesion. May also promote integrity of Sertoli cell tight junctions at the blood-testis barrier.

Gene Wiki entry for RAI14 Gene

Additional gene information for RAI14 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAI14 Gene

Genomics for RAI14 Gene

GeneHancer (GH) Regulatory Elements for RAI14 Gene

Promoters and enhancers for RAI14 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
GH05J034654 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 674.7 +2.3 2313 7.8 PKNOX1 SIN3A YY1 FOS SP3 SP5 MXD4 REST ZNF592 SREBF1 RAI14 ENSG00000250234 BRIX1 LOC643373 LOC105374723 GC05P034707
GH05J034682 Enhancer 1.4 Ensembl ENCODE dbSUPER 17.4 +29.6 29625 7.2 PKNOX1 FOXA2 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF213 FOS SP3 BRIX1 LOC643373 RAI14 ENSG00000250234 TTC23L GC05P034707
GH05J034585 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -69.2 -69182 3.9 HDGF PKNOX1 CLOCK FOXA2 ARNT SIN3A POLR2B ZNF766 E2F8 FOS LOC105374721 BRIX1 RAI14 ENSG00000250234 TTC23L LOC643373
GH05J035616 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.1 +961.7 961738 2.2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF213 ZNF143 ZNF548 SPEF2 BRIX1 NADK2-AS1 RAI14 RNU7-130P GC05P035369
GH05J034625 Enhancer 1 ENCODE dbSUPER 17.9 -28.8 -28843 3.4 ATF1 INSM2 RFX5 ZEB1 ZNF335 ZNF366 FOS ATF7 TSHZ1 ZEB2 RAI14 ENSG00000250234 LOC105374721
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAI14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAI14 gene promoter:
  • c-Ets-1
  • Roaz
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a

Genomic Locations for RAI14 Gene

Genomic Locations for RAI14 Gene
chr5:34,656,237-34,832,627
(GRCh38/hg38)
Size:
176,391 bases
Orientation:
Plus strand
chr5:34,656,342-34,832,732
(GRCh37/hg19)
Size:
176,391 bases
Orientation:
Plus strand

Genomic View for RAI14 Gene

Genes around RAI14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAI14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAI14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAI14 Gene

Proteins for RAI14 Gene

  • Protein details for RAI14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0K7-RAI14_HUMAN
    Recommended name:
    Ankycorbin
    Protein Accession:
    Q9P0K7
    Secondary Accessions:
    • E9PED3
    • Q6V1W9
    • Q7Z5I4
    • Q7Z733
    • Q9P2L2
    • Q9Y3T5

    Protein attributes for RAI14 Gene

    Size:
    980 amino acids
    Molecular mass:
    110041 Da
    Quaternary structure:
    • Interacts with PALLD. Associates with actin. However, does not bind F-actin directly.
    SequenceCaution:
    • Sequence=BAA92572.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB43236.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RAI14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAI14 Gene

Post-translational modifications for RAI14 Gene

  • Ubiquitination at Lys912 and Lys507
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RAI14 Gene

Domains & Families for RAI14 Gene

Gene Families for RAI14 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAI14 Gene

Suggested Antigen Peptide Sequences for RAI14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RAI14: view

No data available for UniProtKB/Swiss-Prot for RAI14 Gene

Function for RAI14 Gene

Molecular function for RAI14 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in actin regulation at the ectoplasmic specialization, a type of cell junction specific to testis. Important for establishment of sperm polarity and normal spermatid adhesion. May also promote integrity of Sertoli cell tight junctions at the blood-testis barrier.
UniProtKB/Swiss-Prot Induction:
Up-regulated by all-trans-retinoic acid (ATRA) in retinal pigment epithelial cells (ARPE-19).

Phenotypes From GWAS Catalog for RAI14 Gene

Gene Ontology (GO) - Molecular Function for RAI14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15161933
genes like me logo Genes that share ontologies with RAI14: view
genes like me logo Genes that share phenotypes with RAI14: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAI14

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAI14 Gene

Localization for RAI14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAI14 Gene

Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cell junction. Nucleus. Note=Associated with the cortical actin cytoskeleton structures in terminal web and cell-cell adhesion sites and stress fibers (By similarity). Highly expressed at the ectoplasmic specialization, an actin-rich cell junction specific to the testis (By similarity). Predominantly nuclear in nonconfluent cells (PubMed:16729964). {ECO:0000250 UniProtKB:Q5U312, ECO:0000250 UniProtKB:Q9P0K7, ECO:0000269 PubMed:16729964}.

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 RAI14 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Actin filaments (2)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAI14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with RAI14: view

Pathways & Interactions for RAI14 Gene

SuperPathways for RAI14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAI14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0097190 apoptotic signaling pathway IEA --
GO:1901222 regulation of NIK/NF-kappaB signaling IEA --
genes like me logo Genes that share ontologies with RAI14: view

No data available for Pathways by source and SIGNOR curated interactions for RAI14 Gene

Drugs & Compounds for RAI14 Gene

No Compound Related Data Available

Transcripts for RAI14 Gene

Unigene Clusters for RAI14 Gene

Retinoic acid induced 14:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAI14

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAI14 Gene

No ASD Table

Relevant External Links for RAI14 Gene

GeneLoc Exon Structure for
RAI14
ECgene alternative splicing isoforms for
RAI14

Expression for RAI14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAI14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAI14 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (28.3) and Bone marrow stromal cell (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAI14 Gene



Protein tissue co-expression partners for RAI14 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAI14 Gene:

RAI14

SOURCE GeneReport for Unigene cluster for RAI14 Gene:

Hs.431400

mRNA Expression by UniProt/SwissProt for RAI14 Gene:

Q9P0K7-RAI14_HUMAN
Tissue specificity: Highly expressed in placenta, muscle, kidney and testis. Moderately expressed in heart, brain, lung, liver and intestine. Isoform 2 is widely expressed and expressed in fetal and adult testes, and spermatozoa.

Evidence on tissue expression from TISSUES for RAI14 Gene

  • Nervous system(4.6)
  • Eye(4.3)
  • Liver(4.3)
  • Skin(4.3)
  • Spleen(2)
genes like me logo Genes that share expression patterns with RAI14: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAI14 Gene

Orthologs for RAI14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RAI14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAI14 34 33
  • 99.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAI14 34 33
  • 88.98 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAI14 34 33
  • 88.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rai14 33
  • 83.91 (n)
mouse
(Mus musculus)
Mammalia Rai14 16 34 33
  • 83.86 (n)
oppossum
(Monodelphis domestica)
Mammalia RAI14 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAI14 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAI14 34 33
  • 71.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAI14 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rai14 33
  • 58.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4125 33
zebrafish
(Danio rerio)
Actinopterygii rai14 34 33
  • 54.16 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
Species where no ortholog for RAI14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RAI14 Gene

ENSEMBL:
Gene Tree for RAI14 (if available)
TreeFam:
Gene Tree for RAI14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAI14: view image

Paralogs for RAI14 Gene

Paralogs for RAI14 Gene

(48) SIMAP similar genes for RAI14 Gene using alignment to 12 proteins:

  • RAI14_HUMAN
  • D6R9G4_HUMAN
  • D6R9G6_HUMAN
  • D6RB25_HUMAN
  • D6RB27_HUMAN
  • D6RBW6_HUMAN
  • D6RBY4_HUMAN
  • D6RDL2_HUMAN
  • D6RE17_HUMAN
  • D6REL2_HUMAN
  • D6RF74_HUMAN
  • E7EMX7_HUMAN
genes like me logo Genes that share paralogs with RAI14: view

Variants for RAI14 Gene

Sequence variations from dbSNP and Humsavar for RAI14 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000005700 -- 34,688,214(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant
rs1000013357 -- 34,732,127(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000074508 -- 34,739,464(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000079767 -- 34,689,803(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000105464 -- 34,685,807(+) T/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RAI14 Gene

Variant ID Type Subtype PubMed ID
dgv1090e214 CNV gain 21293372
dgv5629n100 CNV gain 25217958
dgv9717n54 CNV gain+loss 21841781
dgv9718n54 CNV gain 21841781
dgv9719n54 CNV loss 21841781
dgv9720n54 CNV loss 21841781
esv24799 CNV loss 19812545
esv26730 CNV loss 19812545
esv3575835 CNV gain 25503493
esv3604679 CNV gain 21293372
esv3604684 CNV gain 21293372
nsv4786 CNV insertion 18451855
nsv4787 CNV insertion 18451855
nsv519240 CNV gain 19592680
nsv522144 CNV loss 19592680
nsv597807 CNV loss 21841781
nsv830260 CNV gain 17160897

Variation tolerance for RAI14 Gene

Residual Variation Intolerance Score: 28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.00; 93.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAI14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAI14

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAI14 Gene

Disorders for RAI14 Gene

Additional Disease Information for RAI14

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

No disorders were found for RAI14 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAI14 Gene

Publications for RAI14 Gene

  1. Cell density-dependent nuclear/cytoplasmic localization of NORPEG (RAI14) protein. (PMID: 16729964) Kutty RK … Wiggert B (Biochemical and biophysical research communications 2006) 3 4 22 58
  2. Molecular characterization and developmental expression of NORPEG, a novel gene induced by retinoic acid. (PMID: 11042181) Kutty RK … Wiggert B (The Journal of biological chemistry 2001) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: the HyperGEN Study. (PMID: 19454037) Arnett DK … Broeckel U (BMC medical genetics 2009) 3 44 58
  5. Expression of a novel alternative transcript of the novel retinal pigment epithelial cell gene NORPEG in human testes. (PMID: 16110356) Yuan W … Sha JH (Asian journal of andrology 2005) 3 4 58

Products for RAI14 Gene

Sources for RAI14 Gene

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