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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPATA5L1 Gene

protein-coding   GIFtS: 50
GCID: GC15P045694

Spermatogenesis Associated 5-Like 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Spermatogenesis Associated 5-Like 11 2
Spermatogenesis-Associated Protein 5-Like Protein 12
EC 1.1.1.1008
EC 3.4.248

External Ids:    HGNC: 287621   Entrez Gene: 790292   Ensembl: ENSG000001717637   UniProtKB: Q9BVQ73   
ORGUL members:         
NONCODE14:n407939      

Export aliases for SPATA5L1 gene to outside databases

Previous GC identifers: GC15P043411 GC15P043481 GC15P022518


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SPATA5L1 Gene: 
SPATA5L1 (spermatogenesis associated 5-like 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SPATA5L1 include kidney disease, and tuberculosis. GO annotations related to this gene include nucleoside-triphosphatase activity and ATP binding.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPATA5L1 gene promoter:
         Max1   USF1   NRSF form 1   NRSF form 2   AP-2gamma   USF-1   AP-2beta   AP-2alpha   c-Myc   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPATA5L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPATA5L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPATA5L1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21.1   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q15.1

SPATA5L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA5L1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P045694:  view genomic region     (about GC identifiers)

Start:
45,694,519 bp from pter      End:
45,713,617 bp from pter
Size:
19,099 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPA5L_HUMAN, Q9BVQ7 (See protein sequence)
Recommended Name: Spermatogenesis-associated protein 5-like protein 1  
Size: 753 amino acids; 80710 Da
Subcellular location: Cytoplasm (Potential)
Secondary accessions: C9JHR5 Q9H8W7 Q9HA41
Alternative splicing: 3 isoforms:  Q9BVQ7-1   Q9BVQ7-2   Q9BVQ7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPATA5L1: NX_Q9BVQ7

Explore proteomics data for SPATA5L1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BVQ7

  • 2 DME Specific Peptides for SPATA5L1 (Q9BVQ7)
     ARELASRG  TNRPDVLD 

    SPATA5L1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPATA5L1 Protein Expression
    REFSEQ proteins: NP_076968.2  
    ENSEMBL proteins: 
     ENSP00000305494   ENSP00000453406   ENSP00000436823   ENSP00000453091   ENSP00000431242  

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    Cloud-Clone Corp. Proteins for SPATA5L1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0043234protein complex IEA--

    SPATA5L1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AATP: ATPases / AAA-type

    4 InterPro protein domains:
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry Q9BVQ7

    ProtoNet protein and cluster: Q9BVQ7

    UniProtKB/Swiss-Prot: SPA5L_HUMAN, Q9BVQ7
    Similarity: Belongs to the AAA ATPase family. AFG2 subfamily


    SPATA5L1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Enzyme Numbers (IUBMB): EC 1.1.1.1002 EC 3.4.242

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0009378four-way junction helicase activity ----
    GO:0016887ATPase activity ----
         
    SPATA5L1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPATA5L1:
     Increased HPV18 LCR reporter a 

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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPATA5L1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/586 Interacting proteins for SPATA5L1 (Q9BVQ72 ENSP000003054944) via UniProtKB, MINT, STRING, and/or I2D (see all 586)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNW1Q135732, ENSP000002615314MINT-7945693 STRING: ENSP00000261531
    ABCF1Q8NE712MINT-7945693
    ABCF3Q9NUQ82MINT-7945693
    ACIN1Q9UKV32MINT-7945693
    ACTBP607092MINT-7945693
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair ----
    GO:0006310DNA recombination ----
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IEA--
    GO:0070842aggresome assembly IEA--

    SPATA5L1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPATA5L1 (SPA5L)

    Search CenterWatch for drugs/clinical trials and news about SPATA5L1 / SPA5L

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPATA5L1 gene: 
    NM_024063.2  

    Unigene Cluster for SPATA5L1:

    Spermatogenesis associated 5-like 1
    Hs.369657  [show with all ESTs]
    Unigene Representative Sequence: NR_027635
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000305560(uc001zvf.3 uc001zve.3) ENST00000559860 ENST00000531970
    ENST00000525552 ENST00000531624 ENST00000533199 ENST00000533841
    miRNA
    Products:
         
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SPATA5L1:
    hsa-miR-374a*
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF086107.1 AK225463.1 AK291457.1 BC000981.2 BC051861.2 NR_027635.1 

    7 DOTS entries:

    DT.213146  DT.100766264  DT.100776101  DT.97842024  DT.95270476  DT.100706886  DT.40273075 

    24/122 AceView cDNA sequences (see all 122):

    T35813 AW022372 BG944281 AI656138 D20163 CA414529 AF086107 AA451905 
    BU615405 BM991912 AW471289 AA174003 BU730064 AW594432 AA176698 BQ212534 
    BG032629 AI745238 BX114031 CA432318 BE045843 AA765747 AA974255 BM806896 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SPATA5L1 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                                                                                            
    SP2:                                      -                                                                     
    SP3:                                                                    -           -                           
    SP4:                                                                          -     -                 -         
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for SPATA5L1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPATA5L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAATAGGGC
    SPATA5L1 Expression
    About this image


    See SPATA5L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPATA5L1

    SOURCE GeneReport for Unigene cluster: Hs.369657
        SABiosciences Custom PCR Arrays for SPATA5L1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SPATA5L1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spata5l11 , 5 spermatogenesis associated 5-like 11, 5 82.23(n)1
    81.02(a)1
      2 (60.64 cM)5
    2146161  NM_001033256.21  NP_001028428.21 
     1226306255 
    chicken
    (Gallus gallus)
    Aves SPATA5L11 spermatogenesis associated 5-like 1 66.99(n)
    64.87(a)
      415441  XM_001232156.2  XP_001232157.2 
    lizard
    (Anolis carolinensis)
    Reptilia SPATA5L16
    Uncharacterized protein
    56(a)
    1 ↔ 1
    GL343506.1(29023-33655)
    zebrafish
    (Danio rerio)
    Actinopterygii spata5l11 spermatogenesis associated 5-like 1 56.51(n)
    54.35(a)
      767648  NM_001076588.2  NP_001070056.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC486
    ATPase involved in ubiquitin-mediated protein degr...
    29(a)
    1 → many
    IV(236157-238664)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CDC48B1 cell division control protein 48-B 50.32(n)
    45.19(a)
      814895  NM_126415.5  NP_178463.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g03762001 hypothetical protein 51.01(n)
    46.11(a)
      4338614  NM_001061915.1  NP_001055380.1 


    ENSEMBL Gene Tree for SPATA5L1 (if available)
    TreeFam Gene Tree for SPATA5L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPATA5L1 gene
    10 SIMAP similar genes for SPATA5L1 using alignment to 3 protein entries:     SPA5L_HUMAN (see all proteins):
    DKFZp434K0126    SPATA5    VCP    PSMC5    PSMC1    PSMC3
    PSMC6    PSMC2    PSMC4    NVL

    SPATA5L1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/419 SNPs in SPATA5L1 are shown (see all 419)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1499183871,2
    --45692622(+) TGAAGA/GCCCAG 2 -- us2k10--------
    rs24862711,2
    C,F,O,H--45692634(-) GGAATT/CCTGTT 2 -- us2k112Minor allele frequency- C:0.24NA NS EA WA CSA 672
    rs1907554861,2
    --45692883(+) AACTTC/TATTGG 2 -- us2k10--------
    rs11538511,2
    C,F,H--45693027(+) CCTCAG/ATAAGT 2 -- us2k119Minor allele frequency- A:0.29NS EA NA WA CSA 1916
    rs1464848621,2
    --45693147(+) TAGGGA/GTCGGT 2 -- us2k10--------
    rs353358671,2
    C--45693164(+) ATGGCT/-TTTTT 2 -- us2k11Minor allele frequency- -:0.00CSA 2
    rs595424631,2
    C--45693173(+) TTTTT-/A/TATTTC 2 -- us2k10--------
    rs1410529821,2
    --45693235(+) CCAATC/GGGATT 2 -- us2k10--------
    rs767223071,2
    C,F--45693281(+) TTATCC/TATTTC 2 -- us2k11Minor allele frequency- T:0.01NA 120
    rs38408321,2
    C,F--45693769(+) GCTGGA/-AAAAA 2 -- us2k1 tfbs3 trp32Minor allele frequency- -:0.50NA CSA 4

    HapMap Linkage Disequilibrium report for SPATA5L1 (45694519 - 45713617 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SPATA5L1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv469721CNV Complex16826518

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for SPATA5L1:    About MalaCards
    kidney disease    tuberculosis


    SPATA5L1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPATA5L1
    Human Genome Epidemiology (HuGE) Navigator: SPATA5L1 (1 document)

    Export disorders for SPATA5L1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPATA5L1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with SPATA5L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Multiple loci associated with indices of renal function and chronic kidney disease. (PubMed id 19430482)1, 4 KAPttgen A....Fox C.S. (2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Using multiple measures for quantitative trait associa tion analyses: application to estimated glomerular filtration rate. (PubMed id 23535967)1 Tin A....Kao W.H. (2013)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    10. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79029 HGNC: 28762 AceView: SPATA5L1 Ensembl:ENSG00000171763 euGenes: HUgn79029
    ECgene: SPATA5L1 H-InvDB: SPATA5L1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPATA5L1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPATA5L1 gene:
    Search GeneIP for patents involving SPATA5L1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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