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Aliases for SPECC1 Gene

Aliases for SPECC1 Gene

  • Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 2 3 4 5
  • Cytokinesis And Spindle Organization B 2 3
  • Nuclear Structure Protein 5 3 4
  • Sperm Antigen HCMOGT-1 3 4
  • CYTSB 3 4
  • NSP5 3 4
  • Sperm Antigen With Calponin-Like And Coiled Coil Domains 1 3
  • Structure Protein NSP5a3a 3
  • Structure Protein NSP5a3b 3
  • Structure Protein NSP5b3a 3
  • Structure Protein NSP5b3b 3
  • Sperm Antigen HCMOGT 1 2
  • Cytospin B 2
  • HCMOGT-1 3
  • HCMOGT1 3
  • NSP 3

External Ids for SPECC1 Gene

Previous GeneCards Identifiers for SPECC1 Gene

  • GC17P019931
  • GC17P019853
  • GC17P019369
  • GC17P019914

Summaries for SPECC1 Gene

Entrez Gene Summary for SPECC1 Gene

  • The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for SPECC1 Gene

SPECC1 (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1) is a Protein Coding gene. An important paralog of this gene is SMTNL2.

Gene Wiki entry for SPECC1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPECC1 Gene

Genomics for SPECC1 Gene

Regulatory Elements for SPECC1 Gene

Promoters for SPECC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPECC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPECC1 Gene

Chromosome:
17
Start:
20,009,336 bp from pter
End:
20,319,026 bp from pter
Size:
309,691 bases
Orientation:
Plus strand

Genomic View for SPECC1 Gene

Genes around SPECC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPECC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPECC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPECC1 Gene

Proteins for SPECC1 Gene

  • Protein details for SPECC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5M775-CYTSB_HUMAN
    Recommended name:
    Cytospin-B
    Protein Accession:
    Q5M775
    Secondary Accessions:
    • B4DHH0
    • B7WNS8
    • Q5IBP1
    • Q5IBP2
    • Q5IBP3
    • Q5IBP4
    • Q5M772
    • Q5M773
    • Q5M774
    • Q86XT8
    • Q8N4U4
    • Q8WU84
    • Q9HCQ3

    Protein attributes for SPECC1 Gene

    Size:
    1068 amino acids
    Molecular mass:
    118585 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH33618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB16440.1; Type=Frameshift; Positions=8; Evidence={ECO:0000305};

    Alternative splice isoforms for SPECC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPECC1 Gene

Proteomics data for SPECC1 Gene at MOPED

Post-translational modifications for SPECC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPECC1 Gene

Domains & Families for SPECC1 Gene

Protein Domains for SPECC1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SPECC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5M775

UniProtKB/Swiss-Prot:

CYTSB_HUMAN :
  • Contains 1 CH (calponin-homology) domain.
  • Belongs to the cytospin-A family.
Domain:
  • Contains 1 CH (calponin-homology) domain.
Family:
  • Belongs to the cytospin-A family.
genes like me logo Genes that share domains with SPECC1: view

No data available for Gene Families for SPECC1 Gene

Function for SPECC1 Gene

Phenotypes for SPECC1 Gene

genes like me logo Genes that share phenotypes with SPECC1: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPECC1 Gene

Localization for SPECC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPECC1 Gene

Nucleus.
Isoform 3: Membrane; Lipid-anchor.
Isoform 4: Membrane; Lipid-anchor.
Isoform 5: Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPECC1 Gene COMPARTMENTS Subcellular localization image for SPECC1 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SPECC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SPECC1: view

Pathways & Interactions for SPECC1 Gene

SuperPathways for SPECC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPECC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SPECC1 Gene

Drugs & Compounds for SPECC1 Gene

No Compound Related Data Available

Transcripts for SPECC1 Gene

Unigene Clusters for SPECC1 Gene

Sperm antigen with calponin homology and coiled-coil domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPECC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2:
SP3:
SP4: - -
SP5: -

Relevant External Links for SPECC1 Gene

GeneLoc Exon Structure for
SPECC1
ECgene alternative splicing isoforms for
SPECC1

Expression for SPECC1 Gene

mRNA expression in normal human tissues for SPECC1 Gene

Protein differential expression in normal tissues from HIPED for SPECC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.1) and Lung (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPECC1 Gene



SOURCE GeneReport for Unigene cluster for SPECC1 Gene Hs.431045

mRNA Expression by UniProt/SwissProt for SPECC1 Gene

Q5M775-CYTSB_HUMAN
Tissue specificity: Highly expressed in testis. Barely detectable in other tissues. Also highly expressed in some cancer cell lines.
genes like me logo Genes that share expression patterns with SPECC1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for SPECC1 Gene

Orthologs for SPECC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPECC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPECC1 35
  • 78.67 (n)
  • 80.72 (a)
SPECC1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPECC1 35
  • 85.33 (n)
  • 87.54 (a)
SPECC1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Specc1 35
  • 83.82 (n)
  • 85.71 (a)
Specc1 16
Specc1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Specc1 35
  • 82.73 (n)
  • 84.7 (a)
oppossum
(Monodelphis domestica)
Mammalia SPECC1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPECC1 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPECC1 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPECC1 35
  • 72.05 (n)
  • 72.74 (a)
SPECC1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia specc1 35
  • 65.36 (n)
  • 62.43 (a)
Str.17349 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398795 35
zebrafish
(Danio rerio)
Actinopterygii specc1 35
  • 58.68 (n)
  • 55.06 (a)
specc1 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13366 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3677 36
  • 28 (a)
OneToMany
Species with no ortholog for SPECC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPECC1 Gene

ENSEMBL:
Gene Tree for SPECC1 (if available)
TreeFam:
Gene Tree for SPECC1 (if available)

Paralogs for SPECC1 Gene

Pseudogenes.org Pseudogenes for SPECC1 Gene

genes like me logo Genes that share paralogs with SPECC1: view

Variants for SPECC1 Gene

Sequence variations from dbSNP and Humsavar for SPECC1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs2703806 - 20,204,926(+) ATCAG(A/T)TGTCC intron-variant, reference, missense
rs9908032 - 20,204,871(+) AGCAG(C/G)TGCCC intron-variant, reference, missense
rs35835131 - 20,232,359(+) TGGGG(A/G)ATGTG reference, missense
rs16711 -- 20,179,106(-) TTATT(-/CCTA/TTTCTTCCTA)AGCCA intron-variant
rs918227 -- 20,098,851(-) ccctg(C/T)ctgca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPECC1 Gene

Variant ID Type Subtype PubMed ID
nsv907868 CNV Gain 21882294
nsv907869 CNV Loss 21882294
nsv833394 CNV Gain 17160897
nsv907870 CNV Gain 21882294
nsv907871 CNV Loss 21882294
nsv907872 CNV Loss 21882294
nsv833395 CNV Loss 17160897
nsv833396 CNV Gain 17160897
nsv2003 CNV Loss 18451855
esv2673344 CNV Deletion 23128226
esv271574 CNV Insertion 20981092
nsv520772 CNV Loss 19592680
esv2715739 CNV Deletion 23290073
esv2102373 CNV Deletion 18987734
esv2715741 CNV Deletion 23290073
nsv521025 CNV Gain 19592680

Variation tolerance for SPECC1 Gene

Residual Variation Intolerance Score: 7.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.79; 79.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPECC1 Gene

HapMap Linkage Disequilibrium report
SPECC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPECC1 Gene

Disorders for SPECC1 Gene

UniProtKB/Swiss-Prot

CYTSB_HUMAN
  • Note=A chromosomal aberration involving CYTSB may be a cause of juvenile myelomonocytic leukemia. Translocation t(5;17)(q33;p11.2) with PDGFRB. {ECO:0000269 PubMed:15087372}.

Relevant External Links for SPECC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPECC1

No disorders were found for SPECC1 Gene.

No data available for MalaCards and Genatlas for SPECC1 Gene

Publications for SPECC1 Gene

  1. HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2). (PMID: 15087372) Morerio C. … Panarello C. (Cancer Res. 2004) 2 3 4 67
  2. Possible functional role of NSPs in cancer. (PMID: 18763323) D'Agostino L. … Giordano A. (Cell Cycle 2008) 2 3 23
  3. A gene highly expressed in tumor cells encodes novel structure proteins. (PMID: 15602574) Sang N. … Giordano A. (Oncogene 2004) 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. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3

Products for SPECC1 Gene

Sources for SPECC1 Gene

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