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Aliases for REPS1 Gene

Aliases for REPS1 Gene

  • RALBP1 Associated Eps Domain Containing 1 2 3 5
  • RalBP1-Interacting Protein 1 3 4
  • RalBP1-Associated Eps Domain-Containing Protein 1 3
  • RalBP1 3

External Ids for REPS1 Gene

Previous GeneCards Identifiers for REPS1 Gene

  • GC06M138848
  • GC06M139073
  • GC06M139206
  • GC06M139267
  • GC06M136787

Summaries for REPS1 Gene

Entrez Gene Summary for REPS1 Gene

  • This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

GeneCards Summary for REPS1 Gene

REPS1 (RALBP1 Associated Eps Domain Containing 1) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. GO annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is REPS2.

UniProtKB/Swiss-Prot for REPS1 Gene

  • May coordinate the cellular actions of activated EGF receptors and Ral-GTPases.

Gene Wiki entry for REPS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REPS1 Gene

Genomics for REPS1 Gene

Regulatory Elements for REPS1 Gene

Enhancers for REPS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G138816 1.2 Ensembl ENCODE 28.7 +169.5 169483 5.3 HDGF SIN3A ZNF121 CBX5 ZNF143 FOS ZNF263 ZHX2 JUNB REST REPS1 ECT2L CCRL1P1
GH06G138957 1.2 Ensembl ENCODE dbSUPER 19.5 +30.0 29969 1.8 ELF3 CTCF HDGF KLF1 MAX EBF1 ZNF316 POLR2A IKZF2 MAFK REPS1 ABRACL ENSG00000220600
GH06G138815 1 ENCODE 21.8 +173.9 173924 0.3 PKNOX1 FOXA2 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 SP5 PPARG REPS1 CCRL1P1 ECT2L
GH06G138814 0.8 ENCODE 21.7 +173.5 173471 0.1 CTCF KLF1 RB1 INSM2 BACH1 SIN3A FEZF1 NFXL1 ZNF384 RAD21 REPS1 CCRL1P1 ECT2L
GH06G138985 1.4 ENCODE dbSUPER 9.4 +1.0 1012 3.6 HNRNPUL1 PKNOX1 FOXA2 CREB3L1 MLX SIN3A ARID4B DMAP1 ZNF2 ZBTB7B REPS1 ENSG00000220600
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around REPS1 on UCSC Golden Path with GeneCards custom track

Promoters for REPS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000203820 782 2601 HNRNPUL1 PKNOX1 FOXA2 CREB3L1 MLX ARNT SIN3A ARID4B DMAP1 ZNF2

Genomic Location for REPS1 Gene

Chromosome:
6
Start:
138,903,493 bp from pter
End:
138,988,282 bp from pter
Size:
84,790 bases
Orientation:
Minus strand

Genomic View for REPS1 Gene

Genes around REPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REPS1 Gene

Proteins for REPS1 Gene

  • Protein details for REPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D71-REPS1_HUMAN
    Recommended name:
    RalBP1-associated Eps domain-containing protein 1
    Protein Accession:
    Q96D71
    Secondary Accessions:
    • B7ZBZ8
    • B7ZBZ9
    • B7ZC00
    • J3KP76
    • Q5JWJ5
    • Q5JWJ6
    • Q5JWJ7
    • Q8NDR7
    • Q8WU62
    • Q9BXY9

    Protein attributes for REPS1 Gene

    Size:
    796 amino acids
    Molecular mass:
    86662 Da
    Quaternary structure:
    • Homodimer (Potential). Interacts with RAB11FIP2. Interacts with RALBP1, CRK and GRB2. Binding to RALBP1 does not affect its Ral-binding activity. Forms a complex with the SH3 domains of CRK and GRB2 which may link it to an EGF-responsive tyrosine kinase (By similarity). Interacts with AMPH, ITSN1 (via SH3 domains) and SGIP1; may be involved in clathrin-mediated endocytosis.
    SequenceCaution:
    • Sequence=AAH12764.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH21211.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK34942.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for REPS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REPS1 Gene

Post-translational modifications for REPS1 Gene

No data available for DME Specific Peptides for REPS1 Gene

Domains & Families for REPS1 Gene

Gene Families for REPS1 Gene

Protein Domains for REPS1 Gene

Suggested Antigen Peptide Sequences for REPS1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with REPS1: view

No data available for UniProtKB/Swiss-Prot for REPS1 Gene

Function for REPS1 Gene

Molecular function for REPS1 Gene

UniProtKB/Swiss-Prot Function:
May coordinate the cellular actions of activated EGF receptors and Ral-GTPases.

Gene Ontology (GO) - Molecular Function for REPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 20946875
GO:0017124 SH3 domain binding IPI 20946875
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with REPS1: view

Phenotypes for REPS1 Gene

GenomeRNAi human phenotypes for REPS1:
genes like me logo Genes that share phenotypes with REPS1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for REPS1 Gene

Localization for REPS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REPS1 Gene

Membrane, clathrin-coated pit. Note=Colocalize with ITSN1 at the plasma membrane in structures that are most probably clathrin-coated pits.

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 REPS1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4

Gene Ontology (GO) - Cellular Components for REPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 20946875
GO:0005905 clathrin-coated pit IDA,IEA 20946875
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with REPS1: view

Pathways & Interactions for REPS1 Gene

genes like me logo Genes that share pathways with REPS1: view

Pathways by source for REPS1 Gene

Gene Ontology (GO) - Biological Process for REPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with REPS1: view

No data available for SIGNOR curated interactions for REPS1 Gene

Drugs & Compounds for REPS1 Gene

No Compound Related Data Available

Transcripts for REPS1 Gene

Unigene Clusters for REPS1 Gene

RALBP1 associated Eps domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for REPS1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: -
SP6: - -
SP7: -
SP8: -
SP9:

ExUns: 17 ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - -
SP8:
SP9:

Relevant External Links for REPS1 Gene

GeneLoc Exon Structure for
REPS1
ECgene alternative splicing isoforms for
REPS1

Expression for REPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for REPS1 Gene

Protein differential expression in normal tissues from HIPED for REPS1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.4), Placenta (8.2), Fetal ovary (8.0), and Testis (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for REPS1 Gene



Protein tissue co-expression partners for REPS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of REPS1 Gene:

REPS1

SOURCE GeneReport for Unigene cluster for REPS1 Gene:

Hs.334603

mRNA Expression by UniProt/SwissProt for REPS1 Gene:

Q96D71-REPS1_HUMAN
Tissue specificity: Widely expressed with highest levels in heart and testis.

Evidence on tissue expression from TISSUES for REPS1 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Blood(4.2)
  • Intestine(2.1)
  • Pancreas(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with REPS1: view

Primer 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 REPS1 Gene

Orthologs for REPS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for REPS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia REPS1 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia REPS1 34
  • 95.16 (n)
-- 35
  • 95 (a)
OneToMany
-- 35
  • 94 (a)
OneToMany
cow
(Bos Taurus)
Mammalia REPS1 34 35
  • 94.67 (n)
oppossum
(Monodelphis domestica)
Mammalia REPS1 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Reps1 34 16 35
  • 90.31 (n)
chicken
(Gallus gallus)
Aves REPS1 34 35
  • 85.07 (n)
lizard
(Anolis carolinensis)
Reptilia REPS1 35
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii reps1 34 35
  • 70.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta Reps 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for REPS1 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for REPS1 Gene

ENSEMBL:
Gene Tree for REPS1 (if available)
TreeFam:
Gene Tree for REPS1 (if available)

Paralogs for REPS1 Gene

Paralogs for REPS1 Gene

genes like me logo Genes that share paralogs with REPS1: view

Variants for REPS1 Gene

Sequence variations from dbSNP and Humsavar for REPS1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000025580 -- 138,976,335(+) CTATT(A/G)TAATT intron-variant
rs1000044652 -- 138,964,219(+) TTTTT(-/CCTA)CCTTT intron-variant
rs1000163705 -- 138,913,604(+) TTTTA(A/T)GACAA intron-variant
rs1000181927 -- 138,952,260(+) TCAAA(C/T)TGTCC intron-variant, upstream-variant-2KB
rs1000186162 -- 138,953,512(+) CAAAA(C/G)AAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for REPS1 Gene

Variant ID Type Subtype PubMed ID
esv2732774 CNV deletion 23290073
esv3304021 CNV mobile element insertion 20981092
esv3308423 CNV mobile element insertion 20981092

Variation tolerance for REPS1 Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.48; 77.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for REPS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
REPS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REPS1 Gene

Disorders for REPS1 Gene

Relevant External Links for REPS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
REPS1

No disorders were found for REPS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for REPS1 Gene

Publications for REPS1 Gene

  1. Cloning, expression and characterization of a novel human REPS1 gene. (PMID: 11750063) Xu J. … Mao Y. (Biochim. Biophys. Acta 2001) 3 4 22 64
  2. Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PMID: 20946875) Dergai O. … Rynditch A. (Biochem. Biophys. Res. Commun. 2010) 3 4 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Rab11-FIP2, an adaptor protein connecting cellular components involved in internalization and recycling of epidermal growth factor receptors. (PMID: 12364336) Cullis D.N. … Feig L.A. (J. Biol. Chem. 2002) 3 4 64

Products for REPS1 Gene

  • Addgene plasmids for REPS1

Sources for REPS1 Gene

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