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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
  • GC17P007502
  • GC17P007537

Summaries for SPEM1 Gene

GeneCards Summary for SPEM1 Gene

SPEM1 (Spermatid Maturation 1) is a Protein Coding gene. Diseases associated with SPEM1 include Primary Ciliary Dyskinesia.

UniProtKB/Swiss-Prot for SPEM1 Gene

  • Required for proper cytoplasm removal during spermatogenesis.

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

Genomics for SPEM1 Gene

Regulatory Elements for SPEM1 Gene

Enhancers for SPEM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F007712 0.4 FANTOM5 55.7 +292.0 291975 0.2 ATF1 ZMYM3 CHD4 BMI1 KMT2B YY1 ZNF335 GLIS2 ZNF366 POLR2A SPEM1 TMEM95 C17orf74 YBX2 DLG4 SLC35G6 CNTROB ELP5 GC17M007714 DNAH2
GH17F007474 1.2 FANTOM5 ENCODE 26 +60.2 60230 12.5 CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 DVL2 SNORD10 SNORA48 CHRNB1 PFAS LOC105371523 KCTD11 CTC1 CNTROB MIR6883
GH17F007434 0.7 ENCODE 14.8 +16.4 16375 4.0 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YY1 SLC30A9 ZNF143 KLF13 DEK DVL2 RPL26 SNORA48 MIR324 PFAS SENP3 ENSG00000262067 ENSG00000271029 ZBTB4 SPEM1
GH17F007401 0.6 ENCODE 14.8 -16.2 -16235 4.8 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 DVL2 ENSG00000262067 ENSG00000271029 SPEM1 ENSG00000262089 SNORD10 C17orf74 CNTROB CHRNB1 ACAP1
GH17F007571 0.7 ENCODE 14.6 +157.8 157799 14.2 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 DVL2 SNORD10 SNORA48 PFAS LOC105371523 CTC1 CNTROB MIR6883 KCTD11 MIR324
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SPEM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPEM1 Gene

Chromosome:
17
Start:
7,420,360 bp from pter
End:
7,421,632 bp from pter
Size:
1,273 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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 Gene Families and 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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for SPEM1 Gene COMPARTMENTS Subcellular localization image for SPEM1 gene
Compartment Confidence
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 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

Pathways & Interactions for SPEM1 Gene

SuperPathways for SPEM1 Gene

No Data Available

Interacting Proteins for SPEM1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000315554%0d%0a9606.ENSP00000365576%0d%0a
Selected Interacting proteins: Q8N4L4-SPEM1_HUMAN ENSP00000315554 for SPEM1 Gene via IID STRING

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

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

Clone Products

Flow Cytometry 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 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 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
genes like me logo Genes that share expression patterns with SPEM1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 98.6 (n)
dog
(Canis familiaris)
Mammalia SPEM1 34
  • 79.56 (n)
cow
(Bos Taurus)
Mammalia SPEM1 34 35
  • 78.07 (n)
mouse
(Mus musculus)
Mammalia Spem1 34 16 35
  • 75.82 (n)
rat
(Rattus norvegicus)
Mammalia Spem1 34
  • 75.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPEM1 35
  • 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 Sequence Context AA Info Type
rs11078677 -- 7,418,539(-) AATGC(A/G)TCCTG upstream-variant-2KB, utr-variant-3-prime
rs111604078 -- 7,420,775(+) TGCTC(A/G)CCCCT intron-variant
rs112739519 -- 7,421,386(+) CAGCC(A/C/T)GTCCC reference, synonymous-codon
rs112743363 -- 7,419,514(+) TCCCC(A/G/T)GAACT upstream-variant-2KB, utr-variant-3-prime
rs112757660 -- 7,421,297(+) CTGTG(A/G)ACCCC reference, missense

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)

Relevant External Links 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

MalaCards: The human disease database

(1) MalaCards diseases for SPEM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards
Search SPEM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPEM1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPEM1
genes like me logo Genes that share disorders with SPEM1: view

No data available for 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. (Mol. Cell. Endocrinol. 2011) 2 3 64
  2. UBQLN1 interacts with SPEM1 and participates in spermiogenesis. (PMID: 20558241) Bao J. … Yan W. (Mol. Cell. Endocrinol. 2010) 2 3 64
  3. Lack of Spem1 causes aberrant cytoplasm removal, sperm deformation, and male infertility. (PMID: 17426145) Zheng H. … Yan W. (Proc. Natl. Acad. Sci. U.S.A. 2007) 2 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64

Products for SPEM1 Gene

Sources for SPEM1 Gene

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