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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 3
  • Cytospin B 2
  • HCMOGT-1 3
  • HCMOGT1 3
  • NSP 3

External Ids for SPECC1 Gene

Previous HGNC Symbols 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. Diseases associated with SPECC1 include Juvenile Myelomonocytic Leukemia. An important paralog of this gene is SPECC1L.

Gene Wiki entry for SPECC1 Gene

Additional gene information for SPECC1 Gene

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

Genomics for SPECC1 Gene

GeneHancer (GH) Regulatory Elements for SPECC1 Gene

Promoters and enhancers for SPECC1 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
GH17J020008 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 650.7 +0.9 938 3.5 HDGF PKNOX1 ARNT SIN3A ZNF2 ZNF207 ZNF143 KLF13 SP3 ZHX2 ENSG00000261033 SPECC1 AKAP10 MEIS3P2 MAPK7 LGALS9B UPF3AP2 ENSG00000262202 ENSG00000264932 ULK2
GH17J020154 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.1 +146.7 146727 2.8 HDGF PKNOX1 SIN3A FEZF1 IRF4 GLIS2 ZNF207 ZNF143 ZFP91 RUNX3 PIR42533 SPECC1 ENSG00000261033 LGALS9B RNU6-258P AKAP10 GC17M020166 GC17M020165
GH17J020072 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 24.2 +64.3 64261 2.5 ZBTB21 ZNF335 ZFHX2 ZNF366 POLR2A SCRT2 PRDM10 RUNX3 SCRT1 ELF1 AKAP10 SPECC1 LOC105371579 ENSG00000225681
GH17J020063 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 23.1 +55.4 55361 3.2 JUN SREBF2 MAX SIN3A EBF1 BATF ZNF664 ZFHX2 ZNF366 POLR2A SPECC1 LGALS9B ENSG00000261033 AKAP10 ENSG00000225681 LOC105371579
GH17J020089 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +82.3 82327 4 INSM2 KLF17 MZF1 FEZF1 ZNF2 ZSCAN5C SCRT2 RXRA REST ZEB2 AKAP10 MAPK7 SPECC1 ENSG00000262202 ENSG00000264932 LOC105371579 KCTD9P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPECC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SPECC1 Gene

Genomic Locations for SPECC1 Gene
309,691 bases
Plus strand
309,683 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B4DHH0
    • B7WNS8
    • Q5IBP1
    • Q5IBP2
    • Q5IBP3
    • Q5IBP4
    • Q5M772
    • Q5M773
    • Q5M774
    • Q86XT8
    • Q8N4U4
    • Q8WU84
    • Q9HCQ3

    Protein attributes for SPECC1 Gene

    1068 amino acids
    Molecular mass:
    118585 Da
    Quaternary structure:
    No Data Available
    • 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


neXtProt entry for SPECC1 Gene

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

Gene Families for SPECC1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SPECC1 Gene

Suggested Antigen Peptide Sequences for SPECC1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytospin-A family.
  • Belongs to the cytospin-A family.
genes like me logo Genes that share domains with SPECC1: view

Function for SPECC1 Gene

Phenotypes From GWAS Catalog for SPECC1 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPECC1

Clone 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

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

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 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:0005634 nucleus IEA --
GO:0005815 microtubule organizing center IBA --
GO:0016020 membrane IEA --
GO:0031941 filamentous actin IBA --
genes like me logo Genes that share ontologies with SPECC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPECC1 Gene

Pathways & Interactions for SPECC1 Gene

SuperPathways for SPECC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPECC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030036 actin cytoskeleton organization IBA --
genes like me logo Genes that share ontologies with SPECC1: view

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPECC1

Clone Products

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: -
SP4: - -
SP5: -

Relevant External Links for SPECC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SPECC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SPECC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPECC1 Gene:


SOURCE GeneReport for Unigene cluster for SPECC1 Gene:


mRNA Expression by UniProt/SwissProt for SPECC1 Gene:

Tissue specificity: Highly expressed in testis. Barely detectable in other tissues. Also highly expressed in some cancer cell lines.

Evidence on tissue expression from TISSUES for SPECC1 Gene

  • Nervous system(4.8)
  • Skin(4.2)
  • Liver(4.1)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with SPECC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia SPECC1 34
  • 99 (a)
(Canis familiaris)
Mammalia SPECC1 34 33
  • 85.33 (n)
(Mus musculus)
Mammalia Specc1 16 34 33
  • 83.82 (n)
(Rattus norvegicus)
Mammalia Specc1 33
  • 82.73 (n)
(Bos Taurus)
Mammalia SPECC1 34 33
  • 78.67 (n)
(Monodelphis domestica)
Mammalia SPECC1 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia SPECC1 34
  • 77 (a)
(Gallus gallus)
Aves SPECC1 34 33
  • 72.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia specc1 33
  • 65.36 (n)
Str.17349 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398795 33
(Danio rerio)
Actinopterygii specc1 34 33
  • 58.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13366 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3677 34
  • 28 (a)
Species where no ortholog for SPECC1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for SPECC1 (if available)
Gene Tree for SPECC1 (if available)
Evolutionary constrained regions (ECRs) for SPECC1: view image

Paralogs for SPECC1 Gene

(5) SIMAP similar genes for SPECC1 Gene using alignment to 14 proteins:

  • F5H2Z1_HUMAN
  • J3KS18_HUMAN
  • J3QS22_HUMAN
  • J3QSD6_HUMAN 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 Variation AA Info Type
rs1000029220 -- 20,192,352(+) A/C intron_variant
rs1000032559 -- 20,107,578(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000053171 -- 20,157,787(+) A/G intron_variant
rs1000057741 -- 20,187,771(+) C/A/T intron_variant
rs1000064608 -- 20,058,528(+) G/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv3120n100 CNV loss 25217958
dgv566e214 CNV loss 21293372
esv2102373 CNV deletion 18987734
esv2673344 CNV deletion 23128226
esv2761953 CNV gain 21179565
esv2762522 CNV loss 21179565
esv3307298 CNV mobile element insertion 20981092
esv3423014 CNV insertion 20981092
esv3572476 CNV gain 25503493
esv3582567 CNV loss 25503493
esv3582568 CNV loss 25503493
esv3640188 CNV loss 21293372
esv3640189 CNV loss 21293372
esv3640191 CNV loss 21293372
esv3640194 CNV gain 21293372
esv3892983 CNV loss 25118596
nsv1057389 CNV loss 25217958
nsv1061317 CNV gain 25217958
nsv1064854 CNV gain 25217958
nsv2003 CNV deletion 18451855
nsv478175 CNV novel sequence insertion 20440878
nsv520772 CNV loss 19592680
nsv521025 CNV gain 19592680
nsv574581 CNV loss 21841781
nsv833394 CNV gain 17160897
nsv833395 CNV loss 17160897
nsv833396 CNV gain 17160897
nsv960437 CNV duplication 23825009

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)

Additional Variant Information for SPECC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SPECC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPECC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
juvenile myelomonocytic leukemia
  • jmml
- elite association - COSMIC cancer census association via MalaCards


  • 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}.

Additional Disease Information for SPECC1

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

No data available for Genatlas for SPECC1 Gene

Publications for SPECC1 Gene

  1. Possible functional role of NSPs in cancer. (PMID: 18763323) D'Agostino L … Giordano A (Cell cycle (Georgetown, Tex.) 2008) 2 3 22 58
  2. 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 research 2004) 2 3 4 58
  3. A gene highly expressed in tumor cells encodes novel structure proteins. (PMID: 15602574) Sang N … Giordano A (Oncogene 2004) 2 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for SPECC1 Gene

Sources for SPECC1 Gene

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