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
  • Ankycorbin 3 4
  • NORPEG 3 4
  • Novel Retinal Pigment Epithelial 2
  • 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. Diseases associated with RAI14 include Cardiomyopathy, Infantile Histiocytoid and Potocki-Lupski Syndrome.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for RAI14 Gene

Genomics for RAI14 Gene

GeneHancer (GH) Regulatory Elements for RAI14 Gene

Promoters and enhancers for RAI14 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 RAI14 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAI14

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

Genomic Locations for RAI14 Gene

Genomic Locations for RAI14 Gene
chr5:34,656,328-34,832,612
(GRCh38/hg38)
Size:
176,285 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 Lys507 and Lys912
  • 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

Blocks:
  • Ankyrin repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAI14 Gene

GenScript: Design optimal peptide antigens:
  • Retinoic acid-induced protein 14 (RAI14_HUMAN)
genes like me logo Genes that share domains with RAI14: view

No data available for Graphical View of Domain Structure and 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:0003779 actin binding IEA --
GO:0005515 protein binding IEA,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

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, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber. Cytoplasm, cell cortex. Cell junction. Nucleus. Note=Associated with the cortical actin cytoskeleton structures in terminal web and cell-cell adhesion sites (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: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
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (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:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with RAI14: view

Pathways & Interactions for RAI14 Gene

PathCards logo

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 --
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

mRNA/cDNA for RAI14 Gene

6 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for RAI14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAI14 31 30
  • 88.98 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAI14 31 30
  • 88.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rai14 30
  • 83.91 (n)
mouse
(Mus musculus)
Mammalia Rai14 17 31 30
  • 83.86 (n)
oppossum
(Monodelphis domestica)
Mammalia RAI14 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAI14 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAI14 31 30
  • 71.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAI14 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rai14 30
  • 58.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4125 30
zebrafish
(Danio rerio)
Actinopterygii rai14 31 30
  • 54.16 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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

(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

No data available for Paralogs for RAI14 Gene

Variants for RAI14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAI14 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs10472941 - p.Val499Leu
rs1048944 - p.Ala870Ser
rs17521570 - p.Ala44Thr
rs35941954 - p.Ser45Asn

Additional dbSNP identifiers (rs#s) for RAI14 Gene

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

MalaCards: The human disease database

(2) MalaCards diseases for RAI14 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cardiomyopathy, infantile histiocytoid
  • cardiomyopathy, infantile xanthomatous
potocki-lupski syndrome
  • pls
- elite association - COSMIC cancer census association via MalaCards
Search RAI14 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAI14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAI14: view

No data available for 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 23 54
  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 54
  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 41 54
  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 41 54
  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 54

Products for RAI14 Gene

Sources for RAI14 Gene