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Aliases for SPEM1 Gene

Aliases for SPEM1 Gene

  • Spermatid Maturation 1 2 3 5
  • C17orf83 3 4
  • Chromosome 17 Open Reading Frame 83 2
  • Spermatid Maturation Protein 1 3

External Ids for SPEM1 Gene

Previous HGNC Symbols for SPEM1 Gene

  • C17orf83

Previous GeneCards Identifiers for SPEM1 Gene

  • GC17P007267
  • GC17P007324
  • GC17P007217
  • GC17P007332
  • GC17P007335
  • GC17P007339
  • GC17P007449
  • GC17P007464
  • GC17P007537
  • GC17P007546
  • GC17P007633

Summaries for SPEM1 Gene

GeneCards Summary for SPEM1 Gene

SPEM1 (Spermatid Maturation 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SPEM1 Gene

  • Required for proper cytoplasm removal during spermatogenesis.

Additional gene information for SPEM1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPEM1 Gene

Genomics for SPEM1 Gene

GeneHancer (GH) Regulatory Elements for SPEM1 Gene

Promoters and enhancers for SPEM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I007420 Promoter 0.5 EPDnew 550.8 0.0 -48 0.1 SPEM1 ENSG00000262880
GH17I007712 Enhancer 0.6 FANTOM5 55.7 +292.0 291975 0.2 MXI1 RFX1 BMI1 GLIS2 ZNF341 MYNN GLIS1 EZH2 GC17M007714 SPEM1 TMEM95 SPEM2 YBX2 DLG4 SLC35G6 CNTROB ELP5 DNAH2
GH17I007474 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 +60.2 60229 12.5 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC POLR2A ZBTB4 SLC35G6 DVL2 PFAS SNORD10 CTC1 WRAP53 SNORA48 CNTROB
GH17I007380 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 11.7 -39.2 -39189 1.4 DRAP1 ELF3 KLF1 RB1 SAP130 ARID4B SIN3A TEAD3 PHF20 POLR2A TNK1 CHRNB1 TMEM95 KCTD11 TMEM256 NLGN2 SPEM1 SPEM2 ACAP1 NEURL4
GH17I007454 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 11.4 +35.6 35621 2 HDGF PKNOX1 ATF1 SIN3A FEZF1 IRF4 YY1 ETS1 ZNF766 GLIS2 CHRNB1 FGF11 SPEM2 SPEM1 TNFSF12 TNFSF12-TNFSF13 TMEM256 NLGN2 PLSCR3 ACAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPEM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPEM1 gene promoter:

Genomic Locations for SPEM1 Gene

Genomic Locations for SPEM1 Gene
chr17:7,420,360-7,421,632
(GRCh38/hg38)
Size:
1,273 bases
Orientation:
Plus strand
chr17:7,323,679-7,324,951
(GRCh37/hg19)

Genomic View for SPEM1 Gene

Genes around SPEM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPEM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPEM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPEM1 Gene

Proteins for SPEM1 Gene

  • Protein details for SPEM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4L4-SPEM1_HUMAN
    Recommended name:
    Spermatid maturation protein 1
    Protein Accession:
    Q8N4L4

    Protein attributes for SPEM1 Gene

    Size:
    309 amino acids
    Molecular mass:
    34773 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPEM1 Gene

Post-translational modifications for SPEM1 Gene

No Post-translational modifications

Other Protein References for SPEM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPEM1 Gene

Domains & Families for SPEM1 Gene

Gene Families for SPEM1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SPEM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPEM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPEM1: view

No data available for UniProtKB/Swiss-Prot for SPEM1 Gene

Function for SPEM1 Gene

Molecular function for SPEM1 Gene

UniProtKB/Swiss-Prot Function:
Required for proper cytoplasm removal during spermatogenesis.

Phenotypes for SPEM1 Gene

genes like me logo Genes that share phenotypes with SPEM1: view

Animal Models for SPEM1 Gene

MGI Knock Outs for SPEM1:

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPEM1 Gene

Localization for SPEM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPEM1 Gene

Membrane; Single-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPEM1 gene
Compartment Confidence
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SPEM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SPEM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPEM1 Gene

Pathways & Interactions for SPEM1 Gene

SuperPathways for SPEM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPEM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0007291 sperm individualization IEA --
GO:0030154 cell differentiation IEA --
GO:0030317 flagellated sperm motility IEA --
genes like me logo Genes that share ontologies with SPEM1: view

No data available for Pathways by source and SIGNOR curated interactions for SPEM1 Gene

Drugs & Compounds for SPEM1 Gene

No Compound Related Data Available

Transcripts for SPEM1 Gene

mRNA/cDNA for SPEM1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(92) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPEM1 Gene

Spermatid maturation 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPEM1 Gene

No ASD Table

Relevant External Links for SPEM1 Gene

GeneLoc Exon Structure for
SPEM1
ECgene alternative splicing isoforms for
SPEM1

Expression for SPEM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPEM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPEM1 Gene

This gene is overexpressed in Testis (x52.2).

Protein differential expression in normal tissues from HIPED for SPEM1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPEM1 Gene



Protein tissue co-expression partners for SPEM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPEM1 Gene:

SPEM1

SOURCE GeneReport for Unigene cluster for SPEM1 Gene:

Hs.710599

Evidence on tissue expression from TISSUES for SPEM1 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with SPEM1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPEM1 Gene

Orthologs for SPEM1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPEM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPEM1 33 34
  • 98.6 (n)
dog
(Canis familiaris)
Mammalia SPEM1 33
  • 79.56 (n)
cow
(Bos Taurus)
Mammalia SPEM1 33 34
  • 78.07 (n)
mouse
(Mus musculus)
Mammalia Spem1 33 16 34
  • 75.82 (n)
rat
(Rattus norvegicus)
Mammalia Spem1 33
  • 75.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPEM1 34
  • 33 (a)
OneToOne
Species where no ortholog for SPEM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SPEM1 Gene

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

Paralogs for SPEM1 Gene

No data available for Paralogs for SPEM1 Gene

Variants for SPEM1 Gene

Sequence variations from dbSNP and Humsavar for SPEM1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1001704697 -- 7,420,350(+) G/A upstream_transcript_variant
rs1002112171 -- 7,418,964(+) A/G upstream_transcript_variant
rs1002143249 -- 7,418,763(+) G/T upstream_transcript_variant
rs1002743713 -- 7,418,661(+) C/T upstream_transcript_variant
rs1002776235 -- 7,418,450(+) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SPEM1 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
nsv457659 CNV loss 19166990
nsv470575 CNV loss 18288195
nsv523672 CNV loss 19592680
nsv526176 CNV gain 19592680
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366

Variation tolerance for SPEM1 Gene

Residual Variation Intolerance Score: 80.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.40; 71.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPEM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPEM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPEM1 Gene

Disorders for SPEM1 Gene

Additional Disease Information for SPEM1

No disorders were found for SPEM1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPEM1 Gene

Publications for SPEM1 Gene

  1. RANBP17 is localized to the XY body of spermatocytes and interacts with SPEM1 on the manchette of elongating spermatids. (PMID: 21184802) Bao J … Yan W (Molecular and cellular endocrinology 2011) 2 3 58
  2. UBQLN1 interacts with SPEM1 and participates in spermiogenesis. (PMID: 20558241) Bao J … Yan W (Molecular and cellular endocrinology 2010) 2 3 58
  3. Lack of Spem1 causes aberrant cytoplasm removal, sperm deformation, and male infertility. (PMID: 17426145) Zheng H … Yan W (Proceedings of the National Academy of Sciences of the United States of America 2007) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for SPEM1 Gene

Sources for SPEM1 Gene

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