Human Gene EXPH5 (ENST00000265843.9_11) from GENCODE V47lift37
  Description: exophilin 5, transcript variant 1 (from RefSeq NM_015065.3)
Gencode Transcript: ENST00000265843.9_11
Gencode Gene: ENSG00000110723.12_17
Transcript (Including UTRs)
   Position: hg19 chr11:108,376,162-108,464,495 Size: 88,334 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr11:108,380,264-108,464,263 Size: 84,000 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:108,376,162-108,464,495)mRNA (may differ from genome)Protein (1989 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EXPH5_HUMAN
DESCRIPTION: RecName: Full=Exophilin-5; AltName: Full=Synaptotagmin-like protein homolog lacking C2 domains b; Short=SlaC2-b; Short=Slp homolog lacking C2 domains b;
FUNCTION: May act as Rab effector protein and play a role in vesicle trafficking.
SUBUNIT: Interacts with RAB27A (By similarity).
SIMILARITY: Contains 1 RabBD (Rab-binding) domain.
SEQUENCE CAUTION: Sequence=BAA31599.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EXPH5
Diseases sorted by gene-association score: epidermolysis bullosa, nonspecific, autosomal recessive* (1350), ms4a1-related common variable immune deficiency* (71), epidermolysis bullosa (13), epidermolysis bullosa simplex (7), vesiculobullous skin disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.31 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 77.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.50232-0.248 Picture PostScript Text
3' UTR -1060.604102-0.259 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010911 - Rab-bd_domain
IPR013083 - Znf_RING/FYVE/PHD

SCOP Domains:
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q8NEV8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0017137 Rab GTPase binding

Biological Process:
GO:0003334 keratinocyte development
GO:0006886 intracellular protein transport
GO:0045921 positive regulation of exocytosis
GO:0050714 positive regulation of protein secretion
GO:0071985 multivesicular body sorting pathway

Cellular Component:
GO:0005768 endosome


-  Descriptions from all associated GenBank mRNAs
  AY099469 - Homo sapiens exophilin 5 mRNA, complete cds.
AB014524 - Homo sapiens KIAA0624 mRNA for KIAA0624 protein.
BC117701 - Homo sapiens exophilin 5, mRNA (cDNA clone MGC:134967 IMAGE:40074153), complete cds.
BC113119 - Homo sapiens exophilin 5, mRNA (cDNA clone MGC:133291 IMAGE:40037748), complete cds.
AK303993 - Homo sapiens cDNA FLJ58666 complete cds, highly similar to Slp homolog lacking C2 domains b.
CR627226 - Homo sapiens mRNA; cDNA DKFZp781H0795 (from clone DKFZp781H0795).
AK304212 - Homo sapiens cDNA FLJ59291 partial cds, highly similar to Slp homolog lacking C2 domains b.
BC026281 - Homo sapiens cDNA clone IMAGE:4733238.
AL050204 - Homo sapiens mRNA; cDNA DKFZp586F1223 (from clone DKFZp586F1223).
JD560655 - Sequence 541679 from Patent EP1572962.
JD256505 - Sequence 237529 from Patent EP1572962.
JD414683 - Sequence 395707 from Patent EP1572962.
JD275463 - Sequence 256487 from Patent EP1572962.
BC031034 - Homo sapiens exophilin 5, mRNA (cDNA clone IMAGE:4733106), with apparent retained intron.
JD052006 - Sequence 33030 from Patent EP1572962.
JD294508 - Sequence 275532 from Patent EP1572962.
JD061106 - Sequence 42130 from Patent EP1572962.
JD509491 - Sequence 490515 from Patent EP1572962.
JD097584 - Sequence 78608 from Patent EP1572962.
AK025008 - Homo sapiens cDNA: FLJ21355 fis, clone COL02803.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000265843.1, ENST00000265843.2, ENST00000265843.3, ENST00000265843.4, ENST00000265843.5, ENST00000265843.6, ENST00000265843.7, ENST00000265843.8, EXPH5 , EXPH5_HUMAN, KIAA0624, NM_015065, Q2KHM1, Q8NEV8, Q9Y4D6, SLAC2B, uc317ieo.1, uc317ieo.2
UCSC ID: ENST00000265843.9_11
RefSeq Accession: NM_015065.3
Protein: Q8NEV8 (aka EXPH5_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene EXPH5:
ebs (Epidermolysis Bullosa Simplex)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.