Aliases for SPATA31E1 Gene

Aliases for SPATA31E1 Gene

  • SPATA31 Subfamily E Member 1 2 3 5
  • Family With Sequence Similarity 75, Member E1 2 3
  • Spermatogenesis-Associated Protein 31E1 3 4
  • Protein FAM75E1 3 4
  • C9orf79 3 4
  • FAM75E1 3 4
  • Chromosome 9 Open Reading Frame 79 2
  • FAM75-Like Protein C9orf79 3
  • XXyac-YM21GA2.5 3
  • SPATA31E1 5
  • FLJ35866 2

External Ids for SPATA31E1 Gene

Previous HGNC Symbols for SPATA31E1 Gene

  • C9orf79
  • FAM75E1

Previous GeneCards Identifiers for SPATA31E1 Gene

  • GC09P090499

Summaries for SPATA31E1 Gene

GeneCards Summary for SPATA31E1 Gene

SPATA31E1 (SPATA31 Subfamily E Member 1) is a Protein Coding gene. An important paralog of this gene is SPATA31A1.

UniProtKB/Swiss-Prot Summary for SPATA31E1 Gene

Additional gene information for SPATA31E1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPATA31E1 Gene

Genomics for SPATA31E1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPATA31E1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J087882 Promoter/Enhancer 0.7 EPDnew Ensembl dbSUPER 250.7 +0.1 109 0.8 SPATA31E1 piR-44244 CTSLP8 piR-57269 HSALNG0072502 SPATA31C1 LOC497256 RF00017-7681
GH09J087445 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE 20.9 -437.0 -436974 0.6 SP1 SIX5 ETS1 MBD2 ZNF217 ELF1 THAP11 HCFC1 ZEB2 GABPA ENSG00000286842 SPATA31E1 piR-56037-106 DAPK1 GAS1
GH09J087834 Enhancer 0.8 Ensembl ENCODE 10.8 -48.3 -48277 0.8 MNT IRF2 BHLHE40 CTCF YY1 NFE2 FOXK2 L3MBTL2 RAD21 ZNF143 SPATA31E1 ENSG00000237747 FBP2P1 lnc-CDK20-9 HSALNG0072495 CTSL RF00017-7681
GH09J087827 Enhancer 0.4 Ensembl 11.3 -55.4 -55372 0.8 NCOA3 ZNF366 PRDM1 SPATA31E1 ENSG00000237747 HSALNG0072495 HSALNG0072496 FBP2P1 lnc-CDK20-9 CTSL RF00017-7681
GH09J087849 Enhancer 0.3 Ensembl dbSUPER 11.1 -33.7 -33676 0.4 HSALNG0072500 SPATA31E1 ENSG00000237747 ENSG00000233884 LOC112267903 piR-37527 CTSL RF00017-7681
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPATA31E1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPATA31E1

Genomic Locations for SPATA31E1 Gene

Latest Assembly
6,027 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
6,027 bases
Plus strand

(GRCh37/hg19 by Ensembl)
6,074 bases
Plus strand

Genomic View for SPATA31E1 Gene

Genes around SPATA31E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPATA31E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPATA31E1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPATA31E1 Gene

Proteins for SPATA31E1 Gene

  • Protein details for SPATA31E1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Spermatogenesis-associated protein 31E1
    Protein Accession:
    Secondary Accessions:
    • B2RPB1
    • Q5SQC9
    • Q8NA41
    • Q8ND27

    Protein attributes for SPATA31E1 Gene

    1445 amino acids
    Molecular mass:
    157136 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC04087.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD39098.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SPATA31E1 Gene

Post-translational modifications for SPATA31E1 Gene

  • Glycosylation at Asn408, Asn819, Asn906, and Asn1160
  • Modification sites at PhosphoSitePlus

Other Protein References for SPATA31E1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPATA31E1 Gene

Domains & Families for SPATA31E1 Gene

Gene Families for SPATA31E1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SPATA31E1 Gene


Suggested Antigen Peptide Sequences for SPATA31E1 Gene

GenScript: Design optimal peptide antigens:
  • FAM75-like protein C9orf79 (CI079_HUMAN)
  • cDNA FLJ35887 fis, clone TESTI2009097 (Q8NA33_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SPATA31 family.
  • Belongs to the SPATA31 family.
genes like me logo Genes that share domains with SPATA31E1: view

Function for SPATA31E1 Gene

Molecular function for SPATA31E1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in spermatogenesis.

Phenotypes From GWAS Catalog for SPATA31E1 Gene

genes like me logo Genes that share phenotypes with SPATA31E1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPATA31E1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPATA31E1 Gene

Localization for SPATA31E1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPATA31E1 Gene

Membrane. Single-pass membrane protein.

Subcellular locations from

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 SPATA31E1 gene
Compartment Confidence
mitochondrion 1
nucleus 1
cytosol 1
plasma membrane 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for SPATA31E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SPATA31E1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPATA31E1 Gene

Pathways & Interactions for SPATA31E1 Gene

PathCards logo

SuperPathways for SPATA31E1 Gene

No Data Available

Interacting Proteins for SPATA31E1 Gene

Selected Interacting proteins: Q6ZUB1-S31E1_HUMAN for SPATA31E1 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for SPATA31E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SPATA31E1: view

No data available for Pathways by source and SIGNOR curated interactions for SPATA31E1 Gene

Drugs & Compounds for SPATA31E1 Gene

No Compound Related Data Available

Transcripts for SPATA31E1 Gene

mRNA/cDNA for SPATA31E1 Gene

5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPATA31E1

Alternative Splicing Database (ASD) splice patterns (SP) for SPATA31E1 Gene

No ASD Table

Relevant External Links for SPATA31E1 Gene

GeneLoc Exon Structure for

Expression for SPATA31E1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPATA31E1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for SPATA31E1 Gene

This gene is overexpressed in Testis (x50.4).

Protein differential expression in normal tissues from HIPED for SPATA31E1 Gene

This gene is overexpressed in Heart (40.5) and Placenta (28.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPATA31E1 Gene

Protein tissue co-expression partners for SPATA31E1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPATA31E1

SOURCE GeneReport for Unigene cluster for SPATA31E1 Gene:

genes like me logo Genes that share expression patterns with SPATA31E1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPATA31E1 Gene

Orthologs for SPATA31E1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPATA31E1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC738069 30
  • 98.92 (n)
SPATA31E1 31
  • 98 (a)
(Canis familiaris)
Mammalia SPATA31E1 30 31
  • 59.51 (n)
(Bos Taurus)
Mammalia LOC101903343 30
  • 58.1 (n)
SPATA31E1 31
  • 35 (a)
(Mus musculus)
Mammalia 1700014D04Rik 31
  • 20 (a)
Species where no ortholog for SPATA31E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 SPATA31E1 Gene

Gene Tree for SPATA31E1 (if available)
Gene Tree for SPATA31E1 (if available)
Evolutionary constrained regions (ECRs) for SPATA31E1: view image

Paralogs for SPATA31E1 Gene

genes like me logo Genes that share paralogs with SPATA31E1: view

Variants for SPATA31E1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPATA31E1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs10868670 - p.Val1019Glu
rs11142017 - p.Arg1350His
rs11789780 - p.Asp1202Gly
rs28510722 - p.Thr208Ser
rs34017995 - p.Gly700Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPATA31E1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SPATA31E1 Gene

Variant ID Type Subtype PubMed ID
nsv614788 CNV gain 21841781

Variation tolerance for SPATA31E1 Gene

Residual Variation Intolerance Score: 99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.02; 97.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPATA31E1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPATA31E1 Gene

Disorders for SPATA31E1 Gene

Additional Disease Information for SPATA31E1

No disorders were found for SPATA31E1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPATA31E1 Gene

Publications for SPATA31E1 Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  4. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4

Products for SPATA31E1 Gene

Sources for SPATA31E1 Gene