Human Gene SPAG9 (uc002itd.3) Description and Page Index
  Description: Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 2, mRNA.
RefSeq Summary (NM_001130527): This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011].
Transcript (Including UTRs)
   Position: hg19 chr17:49,039,535-49,198,226 Size: 158,692 Total Exon Count: 30 Strand: -
Coding Region
   Position: hg19 chr17:49,043,633-49,198,017 Size: 154,385 Coding Exon Count: 30 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:49,039,535-49,198,226)mRNA (may differ from genome)Protein (1311 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SPAG9
CDC HuGE Published Literature: SPAG9
Positive Disease Associations: Body Fat Distribution
Related Studies:
  1. Body Fat Distribution
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: SPAG9
Diseases sorted by gene-association score: cardiomyopathy, hypertrophic, 2 (11), hodgkin's lymphoma, mixed cellularity (6)

-  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: 31.02 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 847.04 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 -98.10209-0.469 Picture PostScript Text
3' UTR -1323.584098-0.323 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
  Pfam Domains:
PF09744 - JNK_SAPK-associated protein-1
PF16471 - JNK-interacting protein leucine zipper II

SCOP Domains:
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50978 - WD40 repeat-like

ModBase Predicted Comparative 3D Structure on O60271-2
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 Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF385496 - JP 2014500723-A/192999: Polycomb-Associated Non-Coding RNAs.
AF327452 - Homo sapiens JNK-associated leucine-zipper protein mRNA, complete cds.
AY850123 - Homo sapiens sperm associated antigen 9 transcript variant 1 (SPAG9) mRNA, complete cds, alternatively spliced.
AB011088 - Homo sapiens KIAA0516 mRNA for KIAA0516 protein.
BC146755 - Homo sapiens sperm associated antigen 9, mRNA (cDNA clone MGC:166821 IMAGE:9007191), complete cds.
BC153878 - Homo sapiens sperm associated antigen 9, mRNA (cDNA clone MGC:166824 IMAGE:9007194), complete cds.
AK302789 - Homo sapiens cDNA FLJ61493 complete cds, highly similar to C-jun-amino-terminal kinase-interacting protein 4.
X91879 - Homo sapiens mRNA for sperm protein.
BC106048 - Homo sapiens sperm associated antigen 9, mRNA (cDNA clone IMAGE:4446514), complete cds.
AK091921 - Homo sapiens cDNA FLJ34602 fis, clone KIDNE2013346, highly similar to Homo sapiens mRNA for sperm protein.
AX747254 - Sequence 779 from Patent EP1308459.
KJ624756 - Homo sapiens sperm associated antigen 9 variant 5 (SPAG9) mRNA, complete cds, alternatively spliced.
MA621073 - JP 2018138019-A/192999: Polycomb-Associated Non-Coding RNAs.
AK129652 - Homo sapiens cDNA FLJ26141 fis, clone TST03911.
JD439911 - Sequence 420935 from Patent EP1572962.
JD245033 - Sequence 226057 from Patent EP1572962.
JD564612 - Sequence 545636 from Patent EP1572962.
AK024068 - Homo sapiens cDNA FLJ14006 fis, clone Y79AA1002399, highly similar to Homo sapiens mRNA for sperm protein.
JD309495 - Sequence 290519 from Patent EP1572962.
JD471761 - Sequence 452785 from Patent EP1572962.
JD334632 - Sequence 315656 from Patent EP1572962.
JD210256 - Sequence 191280 from Patent EP1572962.
JD127512 - Sequence 108536 from Patent EP1572962.
JD264545 - Sequence 245569 from Patent EP1572962.
JD330801 - Sequence 311825 from Patent EP1572962.
JD242625 - Sequence 223649 from Patent EP1572962.
JD064088 - Sequence 45112 from Patent EP1572962.
JD489180 - Sequence 470204 from Patent EP1572962.
JD489179 - Sequence 470203 from Patent EP1572962.
JD374551 - Sequence 355575 from Patent EP1572962.
JD095257 - Sequence 76281 from Patent EP1572962.
JD463081 - Sequence 444105 from Patent EP1572962.
JD337555 - Sequence 318579 from Patent EP1572962.
JD533810 - Sequence 514834 from Patent EP1572962.
JD371263 - Sequence 352287 from Patent EP1572962.
AK023512 - Homo sapiens cDNA FLJ13450 fis, clone PLACE1003027, highly similar to C-jun-amino-terminal kinase-interacting protein 4.
AY117689 - Homo sapiens lung cancer oncogene 4 (HLC4) mRNA, complete cds.
AF542172 - Homo sapiens HLC-6 mRNA, complete cds.
AY236487 - Homo sapiens proliferation-inducing gene 6 mRNA, partial cds.
JD502956 - Sequence 483980 from Patent EP1572962.
AK299553 - Homo sapiens cDNA FLJ58257 complete cds, highly similar to C-jun-amino-terminal kinase-interacting protein4.
JD328442 - Sequence 309466 from Patent EP1572962.
JD552725 - Sequence 533749 from Patent EP1572962.
AK295098 - Homo sapiens cDNA FLJ59325 complete cds, highly similar to C-jun-amino-terminal kinase-interacting protein 4.
JD182970 - Sequence 163994 from Patent EP1572962.
AY219897 - Homo sapiens PHET mRNA, complete cds.
AK307793 - Homo sapiens cDNA, FLJ97741.
AK309214 - Homo sapiens cDNA, FLJ99255.
AY219898 - Homo sapiens PHET mRNA, partial cds.
BC007524 - Homo sapiens sperm associated antigen 9, mRNA (cDNA clone IMAGE:3351321), complete cds.
BC059946 - Homo sapiens sperm associated antigen 9, mRNA (cDNA clone IMAGE:5501409), complete cds.
JF432576 - Synthetic construct Homo sapiens clone IMAGE:100073812 sperm associated antigen 9 (SPAG9) gene, encodes complete protein.
KJ901933 - Synthetic construct Homo sapiens clone ccsbBroadEn_11327 SPAG9 gene, encodes complete protein.
JD189362 - Sequence 170386 from Patent EP1572962.

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

Protein O60271 (Reactome details) participates in the following event(s):

R-HSA-376117 JLP interacts with CDO complex
R-HSA-449200 Interaction of ABL1 with CDO complex
R-HSA-448957 Interaction of p38 MAPK with JLP
R-HSA-375170 CDO in myogenesis
R-HSA-525793 Myogenesis
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: HLC6, HSS, KIAA0516, MAPK8IP4, NM_001130527, NP_001123999, O60271-2, SYD1
UCSC ID: uc002itd.3
RefSeq Accession: NM_001130527
Protein: O60271-2, splice isoform of O60271 CCDS: CCDS11577.1, CCDS45740.1, CCDS58578.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001130527.2
exon count: 30CDS single in 3' UTR: no RNA size: 8243
ORF size: 3936CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7769.00frame shift in genome: no % Coverage: 100.00
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.