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Aliases for EXPH5 Gene

Aliases for EXPH5 Gene

  • Exophilin 5 2 3 5
  • Synaptotagmin-Like Protein Homolog Lacking C2 Domains B 3 4
  • Synaptotagmin-Like Homologue Lacking C2 Domains B 2 3
  • Slp Homolog Lacking C2 Domains B 3 4
  • SLAC2-B 3 4
  • SLAC2B 3 4
  • KIAA0624 4

External Ids for EXPH5 Gene

Previous GeneCards Identifiers for EXPH5 Gene

  • GC11M107885
  • GC11M108376
  • GC11M104301

Summaries for EXPH5 Gene

Entrez Gene Summary for EXPH5 Gene

  • The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

GeneCards Summary for EXPH5 Gene

EXPH5 (Exophilin 5) is a Protein Coding gene. Diseases associated with EXPH5 include epidermolysis bullosa, nonspecific, autosomal recessive and epidermolysis bullosa simplex due to exophilin 5 deficiency. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. GO annotations related to this gene include Rab GTPase binding.

UniProtKB/Swiss-Prot for EXPH5 Gene

  • May act as Rab effector protein and play a role in vesicle trafficking.

Gene Wiki entry for EXPH5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXPH5 Gene

Genomics for EXPH5 Gene

Regulatory Elements for EXPH5 Gene

Promoters for EXPH5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EXPH5 on UCSC Golden Path with GeneCards custom track

Genomic Location for EXPH5 Gene

Chromosome:
11
Start:
108,505,431 bp from pter
End:
108,593,765 bp from pter
Size:
88,335 bases
Orientation:
Minus strand

Genomic View for EXPH5 Gene

Genes around EXPH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXPH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXPH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXPH5 Gene

Proteins for EXPH5 Gene

  • Protein details for EXPH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEV8-EXPH5_HUMAN
    Recommended name:
    Exophilin-5
    Protein Accession:
    Q8NEV8
    Secondary Accessions:
    • Q2KHM1
    • Q9Y4D6

    Protein attributes for EXPH5 Gene

    Size:
    1989 amino acids
    Molecular mass:
    222519 Da
    Quaternary structure:
    • Interacts with RAB27A.
    SequenceCaution:
    • Sequence=BAA31599.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for EXPH5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXPH5 Gene

Proteomics data for EXPH5 Gene at MOPED

Post-translational modifications for EXPH5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EXPH5 Gene

Domains & Families for EXPH5 Gene

Protein Domains for EXPH5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EXPH5 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NEV8

UniProtKB/Swiss-Prot:

EXPH5_HUMAN :
  • Contains 1 RabBD (Rab-binding) domain.
Domain:
  • Contains 1 RabBD (Rab-binding) domain.
genes like me logo Genes that share domains with EXPH5: view

No data available for Gene Families for EXPH5 Gene

Function for EXPH5 Gene

Molecular function for EXPH5 Gene

UniProtKB/Swiss-Prot Function:
May act as Rab effector protein and play a role in vesicle trafficking.

Gene Ontology (GO) - Molecular Function for EXPH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017137 Rab GTPase binding IEA,IPI 16880209
genes like me logo Genes that share ontologies with EXPH5: view

Phenotypes for EXPH5 Gene

GenomeRNAi human phenotypes for EXPH5:
genes like me logo Genes that share phenotypes with EXPH5: view

Human Phenotype Ontology for EXPH5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EXPH5 Gene

Localization for EXPH5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EXPH5 Gene COMPARTMENTS Subcellular localization image for EXPH5 gene
Compartment Confidence
endosome 5
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EXPH5 Gene

Pathways & Interactions for EXPH5 Gene

genes like me logo Genes that share pathways with EXPH5: view

Pathways by source for EXPH5 Gene

Interacting Proteins for EXPH5 Gene

Gene Ontology (GO) - Biological Process for EXPH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045921 positive regulation of exocytosis IMP 19966785
GO:0050714 positive regulation of protein secretion IMP 19966785
GO:0071985 multivesicular body sorting pathway IMP 19966785
genes like me logo Genes that share ontologies with EXPH5: view

No data available for SIGNOR curated interactions for EXPH5 Gene

Drugs & Compounds for EXPH5 Gene

No Compound Related Data Available

Transcripts for EXPH5 Gene

Unigene Clusters for EXPH5 Gene

Exophilin 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EXPH5 Gene

No ASD Table

Relevant External Links for EXPH5 Gene

GeneLoc Exon Structure for
EXPH5
ECgene alternative splicing isoforms for
EXPH5

Expression for EXPH5 Gene

mRNA expression in normal human tissues for EXPH5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EXPH5 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.0), Skin - Not Sun Exposed (Suprapubic) (x7.7), Brain - Cerebellum (x7.4), and Brain - Cerebellar Hemisphere (x6.7).

Protein differential expression in normal tissues from HIPED for EXPH5 Gene

This gene is overexpressed in Placenta (45.5) and Bone (21.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EXPH5 Gene



SOURCE GeneReport for Unigene cluster for EXPH5 Gene Hs.28540

mRNA Expression by UniProt/SwissProt for EXPH5 Gene

Q8NEV8-EXPH5_HUMAN
Tissue specificity: Expressed in keratinocytes.
genes like me logo Genes that share expression patterns with EXPH5: view

Protein tissue co-expression partners for EXPH5 Gene

Primer Products

In Situ Assay Products

Orthologs for EXPH5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EXPH5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXPH5 36
  • 99 (a)
OneToOne
EXPH5 35
  • 99.31 (n)
  • 98.69 (a)
cow
(Bos Taurus)
Mammalia EXPH5 35
  • 81.31 (n)
  • 68.81 (a)
EXPH5 36
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXPH5 36
  • 69 (a)
OneToOne
EXPH5 35
  • 81.76 (n)
  • 69.82 (a)
mouse
(Mus musculus)
Mammalia Exph5 16
Exph5 36
  • 58 (a)
OneToOne
Exph5 35
  • 72.82 (n)
  • 59.28 (a)
oppossum
(Monodelphis domestica)
Mammalia EXPH5 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXPH5 36
  • 34 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Exph5 35
  • 71.9 (n)
  • 58.4 (a)
chicken
(Gallus gallus)
Aves EXPH5 36
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXPH5 36
  • 29 (a)
OneToOne
Species with no ortholog for EXPH5:
  • 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for EXPH5 Gene

ENSEMBL:
Gene Tree for EXPH5 (if available)
TreeFam:
Gene Tree for EXPH5 (if available)

Paralogs for EXPH5 Gene

(1) SIMAP similar genes for EXPH5 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with EXPH5: view

No data available for Paralogs for EXPH5 Gene

Variants for EXPH5 Gene

Sequence variations from dbSNP and Humsavar for EXPH5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs2640738 - 108,593,482(+) CTTCC(C/T)GGCCT reference, missense, utr-variant-5-prime
rs3741046 - 108,539,114(-) TTCCC(A/G/T)GATGA upstream-variant-2KB, reference, missense
rs2640785 - 108,539,057(+) AAGTC(A/T)CCTTT upstream-variant-2KB, reference, missense, utr-variant-5-prime
VAR_030541 -
VAR_030542 -

Structural Variations from Database of Genomic Variants (DGV) for EXPH5 Gene

Variant ID Type Subtype PubMed ID
nsv832263 CNV Gain 17160897
nsv898386 CNV Gain 21882294
nsv898387 CNV Gain 21882294
nsv898388 CNV Gain 21882294
nsv832264 CNV Gain+Loss 17160897

Variation tolerance for EXPH5 Gene

Residual Variation Intolerance Score: 97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.71; 99.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EXPH5 Gene

HapMap Linkage Disequilibrium report
EXPH5
Human Gene Mutation Database (HGMD)
EXPH5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXPH5 Gene

Disorders for EXPH5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for EXPH5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa, nonspecific, autosomal recessive
  • epidermolysis bullosa, nonspecific autosomal recessive
epidermolysis bullosa simplex due to exophilin 5 deficiency
  • ebs-ar exophilin 5
ms4a1-related common variable immune deficiency
  • immunodeficiency, common variable, 5
peeling skin syndrome 3
  • pss3
epidermolysis bullosa
  • acantholysis bullosa
- elite association - COSMIC cancer census association via MalaCards
Search EXPH5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EXPH5_HUMAN
  • Epidermolysis bullosa, non-specific, autosomal recessive (EBNS) [MIM:615028]: A skin disease characterized by blistering of skin and mucosae, following minimal pressure or trauma. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. EBNS clinical features mainly comprise trauma-induced scale crusts and intermittent skin blistering. Some of the crusted areas are hemorrhagic and accompanied by occasional bruising. Most lesions clear over several weeks to leave slightly atrophic scars and moderate post-inflammatory hyperpigmentation. {ECO:0000269 PubMed:23176819}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EXPH5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EXPH5
genes like me logo Genes that share disorders with EXPH5: view

No data available for Genatlas for EXPH5 Gene

Publications for EXPH5 Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 67
  2. Rab27a and Rab27b control different steps of the exosome secretion pathway. (PMID: 19966785) Ostrowski M. … Thery C. (Nat. Cell Biol. 2010) 3 23
  3. The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain. (PMID: 11773082) Kuroda T.S. … Mikoshiba K. (J. Biol. Chem. 2002) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Rab27a controls HIV-1 assembly by regulating plasma membrane levels of phosphatidylinositol 4,5-bisphosphate. (PMID: 25940347) Gerber P.P. … Ostrowski M. (J. Cell Biol. 2015) 3

Products for EXPH5 Gene

Sources for EXPH5 Gene

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