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Aliases for REPS1 Gene

Aliases for REPS1 Gene

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

External Ids for REPS1 Gene

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 Ras signaling pathway and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is EHD1.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REPS1 Gene

Genomics for REPS1 Gene

Genomic Location for REPS1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for REPS1 Gene at MOPED

Post-translational modifications for REPS1 Gene

No data available for DME Specific Peptides for REPS1 Gene

Domains for REPS1 Gene

Gene Families for REPS1 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for REPS1 Gene

UniProtKB/Swiss-Prot:

REPS1_HUMAN
Domain:
  • Contains 1 EF-hand domain.:
    • Q96D71
  • Contains 2 EH domains.:
    • Q96D71
genes like me logo Genes that share domains with REPS1: view

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

miRNA for REPS1 Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for REPS1 Gene COMPARTMENTS Subcellular localization image for REPS1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for REPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 20946875
GO:0005905 coated pit IDA 20946875
genes like me logo Genes that share ontologies with REPS1: view

Pathways for REPS1 Gene

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

Gene Ontology (GO) - Biological Process for REPS1 Gene

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

Transcripts for REPS1 Gene

Unigene Clusters for REPS1 Gene

RALBP1 associated Eps domain containing 1:
Representative Sequences:

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 for REPS1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for REPS1 Gene

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.
genes like me logo Genes that share expressions with REPS1: view

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 36
  • 99.75 (n)
  • 99.75 (a)
REPS1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia REPS1 36
  • 94.67 (n)
  • 97.1 (a)
REPS1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 95 (a)
OneToMany
-- 37
  • 94 (a)
OneToMany
REPS1 36
  • 95.16 (n)
  • 97.98 (a)
mouse
(Mus musculus)
Mammalia Reps1 36
  • 90.31 (n)
  • 95.22 (a)
Reps1 16
Reps1 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia REPS1 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 68 (a)
OneToMany
-- 37
  • 92 (a)
OneToMany
chicken
(Gallus gallus)
Aves REPS1 36
  • 85.07 (n)
  • 89.82 (a)
REPS1 37
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia REPS1 37
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii reps1 36
  • 70.29 (n)
  • 74.07 (a)
reps1 37
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Reps 37
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 39 (a)
OneToMany
Species with no ortholog for REPS1:
  • 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 MAF
rs12619 -- 138,904,788(+) TATTA(G/T)CCATA utr-variant-3-prime, downstream-variant-500B
rs726091 -- 138,918,732(+) AATAA(C/T)AATTA intron-variant
rs726092 -- 138,918,605(+) ACTTC(G/T)GTAAT intron-variant
rs727530 -- 138,924,904(+) ATGAG(A/G)AGCAA intron-variant
rs953227 -- 138,956,658(+) TTCCC(C/T)GCCCC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2732774 CNV Deletion 23290073
esv268300 CNV Insertion 20981092
esv272696 CNV Insertion 20981092

Relevant External Links for REPS1 Gene

HapMap Linkage Disequilibrium report
REPS1

Disorders for REPS1 Gene

No disorders were found for REPS1 Gene.

No data available for UniProtKB/Swiss-Prot 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 23
  2. 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
  3. 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
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  5. 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

Products for REPS1 Gene

Sources for REPS1 Gene

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