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
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
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.
ModBase Predicted Comparative 3D Structure on O60271
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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.