Human Gene SPAG9 (uc002itc.3) Description and Page Index
  Description: Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.
RefSeq Summary (NM_001130528): 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 LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther 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 (1321 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: JIP4_HUMAN
DESCRIPTION: RecName: Full=C-Jun-amino-terminal kinase-interacting protein 4; Short=JIP-4; Short=JNK-interacting protein 4; AltName: Full=Cancer/testis antigen 89; Short=CT89; AltName: Full=Human lung cancer oncogene 6 protein; Short=HLC-6; AltName: Full=JNK-associated leucine-zipper protein; Short=JLP; AltName: Full=Mitogen-activated protein kinase 8-interacting protein 4; AltName: Full=Proliferation-inducing protein 6; AltName: Full=Protein highly expressed in testis; Short=PHET; AltName: Full=Sperm surface protein; AltName: Full=Sperm-associated antigen 9; AltName: Full=Sperm-specific protein; AltName: Full=Sunday driver 1;
FUNCTION: The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Isoform 5 may play a role in spermatozoa-egg- interaction.
SUBUNIT: Homooligomer. Interacts with MAX, MAPK8, MAPK9, MAPK10, MAPK14, MAP3K3, MYC, KNS2 and MAP2K4. Interaction with KNS2 is important in the formation of ternary complex with MAPK8. Interacts with NFKB1.
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Note=Perinuclear distribution in response to stress signals such as UV radiation.
SUBCELLULAR LOCATION: Isoform 5: Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Associated with the plasma membrane of the acrosomal compartment and also localizes in the acrosome matrix.
TISSUE SPECIFICITY: Isoform 5 is expressed only in testis on the round spermatids of stage I, II and II. Isoform 5 is absent in spermatogonia and spermatocyte. Isoform 3 is expressed in testis. Isoform 4 is expressed in testis and in acute myeloid leukemia (AML) patients.
INDUCTION: Isoform 3 is increased in systemic sclerosis fibroblasts.
PTM: Phosphorylated by MAPK8 and MAPK14 (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the JIP scaffold family.
SEQUENCE CAUTION: Sequence=AAH07524.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAH59946.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAI06049.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part; Sequence=AAO66462.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA25442.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB14812.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splicing; Sequence=CAA62987.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  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
  InterPro Domains: Graphical view of domain structure
IPR019143 - JNK/Rab-associated_protein-1_N
IPR015943 - WD40/YVTN_repeat-like_dom
IPR017986 - WD40_repeat_dom

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

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2W83
- X-ray


ModBase Predicted Comparative 3D Structure on O60271
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005078 MAP-kinase scaffold activity
GO:0005515 protein binding
GO:0008432 JUN kinase binding
GO:0019894 kinesin binding
GO:0030159 receptor signaling complex scaffold activity
GO:0048273 mitogen-activated protein kinase p38 binding

Biological Process:
GO:0000187 activation of MAPK activity
GO:0007257 activation of JUN kinase activity
GO:0007283 spermatogenesis
GO:0030335 positive regulation of cell migration
GO:0042147 retrograde transport, endosome to Golgi
GO:0043410 positive regulation of MAPK cascade
GO:0045666 positive regulation of neuron differentiation
GO:0051146 striated muscle cell differentiation
GO:0051149 positive regulation of muscle cell differentiation
GO:0051260 protein homooligomerization
GO:0090074 negative regulation of protein homodimerization activity

Cellular Component:
GO:0001669 acrosomal vesicle
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0016021 integral component of membrane
GO:0031410 cytoplasmic vesicle
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome


-  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: A6H8U5, A8MSX0, B4DHH2, HLC6, HSS, JIP4_HUMAN, KIAA0516, MAPK8IP4, NM_001130528, NP_001124000, O60271, O60905, Q3KQU8, Q3MKM7, Q86WC7, Q86WC8, Q8IZX7, Q96II0, Q9H811, SYD1
UCSC ID: uc002itc.3
RefSeq Accession: NM_001130528
Protein: O60271 (aka JIP4_HUMAN)
CCDS: CCDS11577.1, CCDS45740.1, CCDS58578.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001130528.2
exon count: 30CDS single in 3' UTR: no RNA size: 8273
ORF size: 3966CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7829.00frame 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.