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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

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

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

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

Proteomics data for SPEM1 Gene at MOPED

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

MGI mutant phenotypes for SPEM1:
inferred from 1 alleles
GenomeRNAi human phenotypes for SPEM1:
genes like me logo Genes that share phenotypes with SPEM1: view

Animal Models for SPEM1 Gene

MGI Knock Outs for SPEM1:

Animal Model 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

No data available for Gene Ontology (GO) - Cellular Components for SPEM1 Gene

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: ENSP00000315554 Q8N4L4-SPEM1_HUMAN for SPEM1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for SPEM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007291 sperm individualization 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:

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



SOURCE GeneReport for Unigene cluster for SPEM1 Gene Hs.710599

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

Protein tissue co-expression partners for SPEM1 Gene

- Elite partner

Primer Products

In Situ Assay 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 35
  • 98.6 (n)
  • 96.44 (a)
SPEM1 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPEM1 36
  • 69 (a)
OneToOne
SPEM1 35
  • 78.07 (n)
  • 70.03 (a)
dog
(Canis familiaris)
Mammalia SPEM1 35
  • 79.56 (n)
  • 73.11 (a)
mouse
(Mus musculus)
Mammalia Spem1 35
  • 75.82 (n)
  • 69.28 (a)
Spem1 36
  • 65 (a)
OneToOne
Spem1 16
platypus
(Ornithorhynchus anatinus)
Mammalia SPEM1 36
  • 33 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spem1 35
  • 75.54 (n)
  • 69.16 (a)
Species with no ortholog for SPEM1:
  • 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
rs34333422 -- 7,421,533(+) TACCC(C/G)CTAGC reference, synonymous-codon
rs33936935 -- 7,421,851(+) TTTTT(-/T/TT)GAGAC downstream-variant-500B
rs33989543 -- 7,421,469(+) TGCCC(A/G)GGACA reference, missense
rs61741352 -- 7,421,021(+) GTCGA(A/G)GCTCT reference, missense
rs74479128 -- 7,420,774(+) TTGCT(C/T)GCCCC intron-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
nsv907644 CNV Loss 21882294
nsv523672 CNV Loss 19592680
nsv470575 CNV Loss 18288195
dgv3054n71 CNV Loss 21882294
nsv526176 CNV Gain 19592680

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

HapMap Linkage Disequilibrium report
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
  • kartagener syndrome
- 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 67
  2. UBQLN1 interacts with SPEM1 and participates in spermiogenesis. (PMID: 20558241) Bao J. … Yan W. (Mol. Cell. Endocrinol. 2010) 2 3
  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
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for SPEM1 Gene

Sources for SPEM1 Gene

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