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SPEM1 Gene

protein-coding   GIFtS: 40
GCID: GC17P007339

Spermatid Maturation 1

(Previous name: chromosome 17 open reading frame 83)
(Previous symbol: C17orf83)
  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)
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Aliases
Spermatid Maturation 11 2
C17orf831 2 3 5
Chromosome 17 Open Reading Frame 831
Spermatid Maturation Protein 12

External Ids:    HGNC: 324291   Entrez Gene: 3747682   Ensembl: ENSG000001813237   OMIM: 6151165   UniProtKB: Q8N4L43   

Export aliases for SPEM1 gene to outside databases

Previous GC identifers: GC17P007267 GC17P007324 GC17P007217 GC17P007332 GC17P007335


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SPEM1 Gene:
SPEM1 (spermatid maturation 1) is a protein-coding gene. Diseases associated with SPEM1 include male infertility, and infertility.

UniProtKB/Swiss-Prot: SPEM1_HUMAN, Q8N4L4
Function: Required for proper cytoplasm removal during spermatogenesis (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SPEM1 gene promoter:
         Max1   p300   CUTL1   Tal-1beta   POU3F2   Evi-1   PPAR-gamma2   AP-2alpha   ITF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPEM1 promoter sequence
   Search Chromatin IP Primers for SPEM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPEM1


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

SPEM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPEM1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007339:  view genomic region     (about GC identifiers)

Start:
7,323,679 bp from pter      End:
7,324,951 bp from pter
Size:
1,273 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPEM1_HUMAN, Q8N4L4 (See protein sequence)
Recommended Name: Spermatid maturation protein 1  
Size: 309 amino acids; 34773 Da

Explore the universe of human proteins at neXtProt for SPEM1: NX_Q8N4L4

Explore proteomics data for SPEM1 at MOPED


See SPEM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_955371.2  
ENSEMBL proteins: 
 ENSP00000315554  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q8N4L4


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: SPEM1_HUMAN, Q8N4L4
Function: Required for proper cytoplasm removal during spermatogenesis (By similarity)

Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Spem1):

 reproductive system 

SPEM1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Spem1tm1Wyan for SPEM1

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
SPEM1_HUMAN, Q8N4L4: Membrane; Single-pass membrane protein (Potential). Cytoplasm (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane2
cytosol1
endoplasmic reticulum1
extracellular1
mitochondrion1
nucleus1
peroxisome1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--
GO:0016021integral component of membrane IEA--

SPEM1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPEM1
Interactions:

    Search GeneGlobe Interaction Network for SPEM1

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for SPEM1 (Q8N4L43 ENSP000003155544) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
UBQLN1Q9UMX03, ENSP000003655764I2D: score=1 STRING: ENSP00000365576
UBQLN2ENSP000003451954STRING: ENSP00000345195
UBQLN4ENSP000003572924STRING: ENSP00000357292
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Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007275multicellular organismal development IEA--
GO:0007283spermatogenesis IEA--
GO:0030154cell differentiation IEA--

SPEM1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for SPEM1



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for SPEM1 gene: 
NM_199339.2  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000323675(uc002ggv.3)
miRNA
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Selected AceView cDNA sequences (see all 92):

NM_004112 T16627 BG472308 BX115539 BM670363 BM745211 BC033882 AA601951 
F03722 AL519512 BM740406 BC032502 CA423112 BM677432 BM553166 BM783551 
T15934 BE222979 BG697406 Z70275 U66199 BU736684 CD514261 CR597907 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SPEM1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GACCCTGTGA
SPEM1 Expression
About this image


SPEM1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Testis (Reproductive System)
         Elongated Spermatid Seminiferous Tubules
 
 Gonad
         Elongated Spermatid Seminiferous Tubules
SPEM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SPEM1 Protein Expression
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPEM1

(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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for SPEM1 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Spem11 , 5 sperm maturation 11, 5 75.82(n)1
69.28(a)1
  11 (42.89 cM)5
742881  NM_028855.11  NP_083131.11 
 698208765 


ENSEMBL Gene Tree for SPEM1 (if available)
TreeFam Gene Tree for SPEM1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SPEM1 (see all 83)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1479729801,2
C--7323685(+) GGCCCC/TGGTGG 1 -- ut510--------
rs1831506321,2
C,F--7323821(+) GCATTA/GACATT 2 N D mis11Minor allele frequency- G:0.00EU 1051
rs739776681,2
C,F--7323904(+) CTGCCG/AGCCAG 1 -- int15Minor allele frequency- A:0.10WA NA 244
rs2012885891,2
C--7323955(+) GGAGCC/TGATTC 2 R * stg11Minor allele frequency- T:0.00EU 1323
rs2000864281,2
--7323956(+) GAGCCA/GATTCC 2 Q R mis10--------
rs1997955121,2
C--7323980(+) CCAAGT/CGTTCC 2 /A /V mis11Minor allele frequency- C:0.00EU 1323
rs2016473771,2
--7324029(+) TGGGAC/TATAGG 1 -- int10--------
rs744791281,2
C--7324093(+) TTGCTC/TGCCCC 1 -- int11Minor allele frequency- T:0.01WA 118
rs1116040781,2
C,F--7324094(+) TGCTCG/ACCCCT 1 -- int11Minor allele frequency- A:0.50NA 2
rs2017219561,2
F--7324136(+) CTGGGC/ACCTGC 1 -- int11Minor allele frequency- A:0.00EU 593

HapMap Linkage Disequilibrium report for SPEM1 (7323679 - 7324951 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for SPEM1:    About this table    
Variant IDTypeSubtypePubMed ID
esv2422288CNV Deletion17116639
dgv3054n71CNV Loss21882294
nsv470575CNV Loss18288195
nsv907644CNV Loss21882294
nsv457659CNV Loss19166990
nsv523672CNV Loss19592680
nsv526176CNV Gain19592680

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing SPEM1
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 615116    OMIM disorders: --

2 diseases for SPEM1:    
About MalaCards
male infertility    infertility

1 disease from the University of Copenhagen DISEASES database for SPEM1:
Male infertility

SPEM1 for disorders           About GeneDecksing


Export disorders for SPEM1 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)
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PubMed articles for SPEM1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with SPEM1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. RANBP17 is localized to the XY body of spermatocytes and interacts with SPEM1 on the manchette of elongating spermatids. (PubMed id 21184802)1, 3 Bao J....Yan W. (Mol. Cell. Endocrinol. 2011)
  2. UBQLN1 interacts with SPEM1 and participates in spermiogenesis. (PubMed id 20558241)1, 3 Bao J....Yan W. (Mol. Cell. Endocrinol. 2010)
  3. Lack of Spem1 causes aberrant cytoplasm removal, sperm deformation, and male infertility. (PubMed id 17426145)1, 3 Zheng H....Yan W. (Proc. Natl. Acad. Sci. U.S.A. 2007)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 374768 HGNC: 32429 AceView: FGF11 Ensembl:ENSG00000181323 euGenes: HUgn374768
ECgene: SPEM1 H-InvDB: SPEM1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for SPEM1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for SPEM1 gene:
Search GeneIP for patents involving SPEM1

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPEM1
 LSBio Antibodies in human, mouse, rat for SPEM1
Customized transgenic rodents for:
 Humanization
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 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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