Human Gene SPTBN5 (uc001zos.4)
  Description: Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr15:42,140,344-42,186,275 Size: 45,932 Total Exon Count: 68 Strand: -
Coding Region
   Position: hg19 chr15:42,140,814-42,185,695 Size: 44,882 Coding Exon Count: 67 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:42,140,344-42,186,275)mRNA (may differ from genome)Protein (3674 aa)
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OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SPTN5_HUMAN
DESCRIPTION: RecName: Full=Spectrin beta chain, non-erythrocytic 5; AltName: Full=Beta-V spectrin;
SUBUNIT: Probably associates with an alpha chain. Interacts (via C-terminus) with TRPC4.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Detected prominently in the outer segments of photoreceptor rods and cones and in the basolateral membrane and cytosol of gastric epithelial cells.
TISSUE SPECIFICITY: Expressed at very low levels in many tissues, with strongest expression in cerebellum, spinal cord, stomach, pituitary gland, liver, pancreas, salivary gland, kidney, bladder, and heart.
SIMILARITY: Belongs to the spectrin family.
SIMILARITY: Contains 2 CH (calponin-homology) domains.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 31 spectrin repeats.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SPTBN5
CDC HuGE Published Literature: SPTBN5

-  MalaCards Disease Associations
  MalaCards Gene Search: SPTBN5
Diseases sorted by gene-association score: macular holes (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 12.70 RPKM in Nerve - Tibial
Total median expression: 57.17 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 -82.90228-0.364 Picture PostScript Text
3' UTR -180.20470-0.383 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
IPR001589 - Actinin_actin-bd_CS
IPR001715 - CH-domain
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR018159 - Spectrin/alpha-actinin
IPR002017 - Spectrin_repeat

Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF00435 - Spectrin repeat

SCOP Domains:
47576 - Calponin-homology domain, CH-domain
46966 - Spectrin repeat
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q9NRC6
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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 orthologGenome BrowserGenome BrowserNo ortholog
   Gene DetailsGene Details 
   Gene SorterGene Sorter 
   FlyBaseWormBase 
   Protein SequenceProtein Sequence 
   AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005088 Ras guanyl-nucleotide exchange factor activity
GO:0019894 kinesin binding
GO:0030507 spectrin binding
GO:0032029 myosin tail binding
GO:0034452 dynactin binding
GO:0043621 protein self-association
GO:0045505 dynein intermediate chain binding

Biological Process:
GO:0000165 MAPK cascade
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0007030 Golgi organization
GO:0007041 lysosomal transport
GO:0007411 axon guidance
GO:0030036 actin cytoskeleton organization
GO:0051260 protein homooligomerization
GO:0051693 actin filament capping

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0008091 spectrin
GO:0016020 membrane
GO:0032391 photoreceptor connecting cilium
GO:0097381 photoreceptor disc membrane


-  Descriptions from all associated GenBank mRNAs
  AF233523 - Homo sapiens beta V spectrin (BSPECV) mRNA, complete cds.
JD089803 - Sequence 70827 from Patent EP1572962.
JD267818 - Sequence 248842 from Patent EP1572962.
JD232968 - Sequence 213992 from Patent EP1572962.
JD209561 - Sequence 190585 from Patent EP1572962.
JD113509 - Sequence 94533 from Patent EP1572962.
JD253342 - Sequence 234366 from Patent EP1572962.
JD397630 - Sequence 378654 from Patent EP1572962.
JD293851 - Sequence 274875 from Patent EP1572962.
JD507134 - Sequence 488158 from Patent EP1572962.
JD411265 - Sequence 392289 from Patent EP1572962.
JD383133 - Sequence 364157 from Patent EP1572962.
JD458637 - Sequence 439661 from Patent EP1572962.
JD126895 - Sequence 107919 from Patent EP1572962.
JD519360 - Sequence 500384 from Patent EP1572962.
JD541559 - Sequence 522583 from Patent EP1572962.
JD254972 - Sequence 235996 from Patent EP1572962.
JD477139 - Sequence 458163 from Patent EP1572962.
JD535402 - Sequence 516426 from Patent EP1572962.
JD283249 - Sequence 264273 from Patent EP1572962.
JD467410 - Sequence 448434 from Patent EP1572962.
JD159727 - Sequence 140751 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NRC6 (Reactome details) participates in the following event(s):

R-HSA-391868 Dephosphorylation of NCAM1 bound pFyn
R-NUL-420388 Dephosphorylation of NCAM1 bound pFyn
R-HSA-391865 Recruitment of FAK to NCAM1:Fyn in lipid rafts
R-HSA-391871 Autophosphorylation of NCAM1 bound Fyn
R-HSA-392751 L1 linked to actin cytoskeleton by ankyrin
R-HSA-6807875 ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex
R-NUL-420398 Autophosphorylation of NCAM1 bound Fyn
R-HSA-391866 Phosphorylation of FAK by Src kinase
R-HSA-392051 Recruitment of Grb2 to pFAK:NCAM1
R-HSA-392053 SOS binds Grb2 bound to pFAK:NCAM1
R-HSA-373739 Ankyrins link voltage-gated sodium and potassium channels to spectrin and L1
R-HSA-6807877 ARFGAPs stimulate ARF GTPase activity
R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin
R-HSA-392054 NCAM1:pFAK:Grb2:Sos-mediated nucleotide exchange of Ras
R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex
R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-422475 Axon guidance
R-HSA-373760 L1CAM interactions
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-1266738 Developmental Biology
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-597592 Post-translational protein modification
R-HSA-5683057 MAPK family signaling cascades
R-HSA-392499 Metabolism of proteins
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: BSPECV, HUBSPECV, HUSPECV, NM_016642, NP_057726, Q9NRC6, SPTN5_HUMAN, uc001zos.3
UCSC ID: uc001zos.4
RefSeq Accession: NM_016642
Protein: Q9NRC6 (aka SPTN5_HUMAN or SPCR_HUMAN)
CCDS: CCDS61599.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_016642.3
exon count: 68CDS single in 3' UTR: no RNA size: 11748
ORF size: 11025CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 17777.00frame shift in genome: no % Coverage: 99.79
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.