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    SPAG9 sperm associated antigen 9 [ Homo sapiens (human) ]

    Gene ID: 9043, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SPAG9provided by HGNC
    Official Full Name
    sperm associated antigen 9provided by HGNC
    Primary source
    HGNC:HGNC:14524
    See related
    Ensembl:ENSG00000008294 MIM:605430; AllianceGenome:HGNC:14524
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JLP; CT89; HLC4; HLC6; JIP4; PHET; PIG6; HLC-6; JIP-4
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 29.0), testis (RPKM 27.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPAG9 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50962174..51120868, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51829515..51988191, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (49039535..49198229, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49021226-49022109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49022110-49022992 Neighboring gene uncharacterized LOC124904029 Neighboring gene Sharpr-MPRA regulatory region 1122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49029041-49029542 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:49031243-49032442 Neighboring gene Sharpr-MPRA regulatory region 10137 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49175960-49176460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8721 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:49198151-49198965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12400 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:49205455-49205678 Neighboring gene MPRA-validated peak2888 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr17:49219886-49220387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49222416-49222916 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:49230233-49231432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49232587-49233118 Neighboring gene NME1-NME2 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:49243725-49244333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8725 Neighboring gene MPRA-validated peak2890 silencer Neighboring gene NME/NM23 nucleoside diphosphate kinase 1 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SPAG9 is overexpressed in human astrocytoma and promotes cell proliferation and invasion. Yi F, et al. Tumour Biol, 2013 Oct. PMID 23696027
    2. Aberrant expression of JNK-associated leucine-zipper protein, JLP, promotes accelerated growth of ovarian cancer. Ha JH, et al. Oncotarget, 2016 Nov 8. PMID 27655714, Free PMC Article
    3. SPAG9 promotes endometrial carcinoma cell invasion through regulation of genes related to the epithelial-mesenchymal transition. Zhang L, et al. Eur J Gynaecol Oncol, 2016. PMID 27352556
    4. Cancer testis antigen SPAG9 is a promising marker for the diagnosis and treatment of lung cancer. Ren B, et al. Oncol Rep, 2016 May. PMID 26934841, Free PMC Article
    5. Overexpression of SPAG9 in human gastric cancer is correlated with poor prognosis. Miao ZF, et al. Virchows Arch, 2015 Nov. PMID 26293216

    See all (135) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An HLA-G/SPAG9/STAT3 axis promotes brain metastases.
      Title: An HLA-G/SPAG9/STAT3 axis promotes brain metastases.
    2. Significance of cancer testis-associated antigens (SPAG9 and FBXO39) in colon cancer.
      Title: Significance of cancer testis-associated antigens (SPAG9 and FBXO39) in colon cancer.
    3. Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons.
      Title: Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons.
    4. Phosphorylation of JIP4 at S730 Presents Antiviral Properties against Influenza A Virus Infection.
      Title: Phosphorylation of JIP4 at S730 Presents Antiviral Properties against Influenza A Virus Infection.
    5. miR-874 inhibits gastric cancer cell proliferation by targeting SPAG9.
      Title: miR-874 inhibits gastric cancer cell proliferation by targeting SPAG9.
    6. Structural characterization of the RH1-LZI tandem of JIP3/4 highlights RH1 domains as a cytoskeletal motor-binding motif.
      Title: Structural characterization of the RH1-LZI tandem of JIP3/4 highlights RH1 domains as a cytoskeletal motor-binding motif.
    7. Sperm associated antigen 9 promotes oncogenic KSHV-encoded interferon regulatory factor-induced cellular transformation and angiogenesis by activating the JNK/VEGFA pathway.
      Title: Sperm associated antigen 9 promotes oncogenic KSHV-encoded interferon regulatory factor-induced cellular transformation and angiogenesis by activating the JNK/VEGFA pathway.
    8. High SPAG9 expression is associated with drug resistance in anaplastic thyroid carcinoma.
      Title: LncRNA NEAT1 enhances the resistance of anaplastic thyroid carcinoma cells to cisplatin by sponging miR‑9‑5p and regulating SPAG9 expression.
    9. these data suggest that the TFEB/TMEM55B/JIP4 pathway coordinates lysosome movement in response to a variety of stress conditions.
      Title: TFEB regulates lysosomal positioning by modulating TMEM55B expression and JIP4 recruitment to lysosomes.
    10. AKAP4 and SPAG9 genes may find use as diagnostic biomarkers for CRC.
      Title: AKAP4, SPAG9 and NY-ESO-1 in Iranian Colorectal Cancer Patients as Probable Diagnostic and Prognostic Biomarkers.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13450, FLJ14006, FLJ26141, FLJ34602, KIAA0516, MGC14967, MGC74461, MGC117291

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables JUN kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables MAP-kinase scaffold activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinesin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor complex adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lysosome localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of dendrite extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within retrograde transport, endosome to Golgi IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in striated muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    C-Jun-amino-terminal kinase-interacting protein 4
    Names
    C-Jun N-terminal kinase protein-associated leucine-zipper protein
    JNK interacting protein
    JNK/SAPK-associated protein
    Max-binding protein
    c-Jun NH2-terminal kinase-associated leucine zipper protein
    cancer/testis antigen 89
    human lung cancer oncogene 6 protein
    lung cancer oncogene 4
    mitogen-activated protein kinase 8-interacting protein 4
    proliferation-inducing gene 6
    protein highly expressed in testis
    sperm surface protein
    sunday driver 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029710.1 RefSeqGene

      Range
      4998..163692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130527.3 → NP_001123999.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform 2

      See identical proteins and their annotated locations for NP_001123999.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC005839, AC005920, AF327452, AY236487, DA631864
      Consensus CDS
      CCDS58578.1
      UniProtKB/Swiss-Prot
      O60271
      UniProtKB/TrEMBL
      Q5JB53
      Related
      ENSP00000426900.1, ENST00000505279.5
      Conserved Domains (2) summary
      pfam09744
      Location:25 → 178
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam16471
      Location:392 → 447
      JIP_LZII; JNK-interacting protein leucine zipper II

    2. NM_001130528.3 → NP_001124000.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform 1

      See identical proteins and their annotated locations for NP_001124000.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC005839, AC005920, AK091921, BC146755
      Consensus CDS
      CCDS45740.1
      UniProtKB/Swiss-Prot
      A6H8U5, A8MSX0, B4DHH2, O60271, O60905, Q3KQU8, Q3MKM7, Q86WC7, Q86WC8, Q8IZX7, Q96II0, Q9H811
      Related
      ENSP00000262013.7, ENST00000262013.12
      Conserved Domains (2) summary
      pfam09744
      Location:25 → 178
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam16471
      Location:406 → 461
      JIP_LZII; JNK-interacting protein leucine zipper II

    3. NM_001251971.2 → NP_001238900.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. The resulting isoform (4) has a distinct N-terminus and is shorter compared to isoform 1.
      Source sequence(s)
      AC005920, AK295098, DC332810
      Consensus CDS
      CCDS58577.1
      UniProtKB/Swiss-Prot
      O60271
      Related
      ENSP00000423165.1, ENST00000510283.5
      Conserved Domains (1) summary
      pfam16471
      Location:249 → 304
      JIP_LZII; JNK-interacting protein leucine zipper II

    4. NM_003971.6 → NP_003962.3  C-Jun-amino-terminal kinase-interacting protein 4 isoform 3

      See identical proteins and their annotated locations for NP_003962.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon in the coding region, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC005839, AC005920, AK091921, AY850123
      Consensus CDS
      CCDS11577.1
      UniProtKB/Swiss-Prot
      O60271
      Related
      ENSP00000349636.4, ENST00000357122.8
      Conserved Domains (2) summary
      pfam09744
      Location:25 → 178
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam16471
      Location:392 → 447
      JIP_LZII; JNK-interacting protein leucine zipper II

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50962174..51120868 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257771.4 → XP_005257828.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X2

      See identical proteins and their annotated locations for XP_005257828.1

      Conserved Domains (2) summary
      pfam09744
      Location:25 → 178
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam16471
      Location:392 → 447
      JIP_LZII; JNK-interacting protein leucine zipper II

    2. XM_005257768.3 → XP_005257825.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X1

      Conserved Domains (2) summary
      pfam09744
      Location:25 → 178
      Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
      pfam16471
      Location:406 → 461
      JIP_LZII; JNK-interacting protein leucine zipper II

    3. XM_017025285.3 → XP_016880774.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X6

    4. XM_005257774.5 → XP_005257831.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X5

      Conserved Domains (1) summary
      pfam16471
      Location:249 → 304
      JIP_LZII; JNK-interacting protein leucine zipper II

    5. XM_017025284.3 → XP_016880773.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X4

    6. XM_017025283.3 → XP_016880772.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51829515..51988191 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317697.1 → XP_054173672.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X2

    2. XM_054317696.1 → XP_054173671.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X1

    3. XM_054317701.1 → XP_054173676.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X6

    4. XM_054317700.1 → XP_054173675.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X5

    5. XM_054317699.1 → XP_054173674.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X4

    6. XM_054317698.1 → XP_054173673.1  C-Jun-amino-terminal kinase-interacting protein 4 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172345.1: Suppressed sequence

      Description
      NM_172345.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60271.4 GenPept UniProtKB/Swiss-Prot:O60271

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