2. Gene
  3. SPECC1 - sperm antigen with calponin homology and coiled-coil domains 1 Gene

SPECC1 - sperm antigen with calponin homology and coiled-coil domains 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NSP; NSP5; CYTSB; HCMOGT1; HCMOGT-1

Gene ID: 92521 | Gene type: protein coding

About SPECC1

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:20,009,359-20,319,026 (from NCBI)

This gene has 51 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 86 phenotypes. Broad expression in brain (RPKM 6.4), testis (RPKM 6.0) and 23 other tissues.

Summary

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]

SPECC1 Products(15)

mRNA Protein Name
NM_001033553.3 NP_001028725.1 cytospin-B isoform 1
NM_001033554.3 NP_001028726.1 cytospin-B isoform 4
NM_001033555.3 NP_001028727.1 cytospin-B isoform 2
NM_001243438.2 NP_001230367.1 cytospin-B isoform 5
NM_001243439.2 NP_001230368.1 cytospin-B isoform 1
NM_001386077.2 NP_001373006.1 cytospin-B isoform 6
NM_001386078.2 NP_001373007.1 cytospin-B isoform 7
NM_001386079.1 NP_001373008.1 cytospin-B isoform 8
NM_001386080.1 NP_001373009.1 cytospin-B isoform 9
NM_001386081.1 NP_001373010.1 cytospin-B isoform 10
NM_001386082.1 NP_001373011.1 cytospin-B isoform 11
NM_001386083.2 NP_001373012.2 cytospin-B isoform 1
NM_001386084.1 NP_001373013.1 cytospin-B isoform 13
NM_001386085.1 NP_001373014.1 cytospin-B isoform 14
NM_152904.4 NP_690868.3 cytospin-B isoform 3

SPECC1 Protein Structure

CH

CH: Calponin homology (CH) domain (965 - 1067)

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  • 1068 a.a.
Protein Preferred Names Protein Names

cytospin-B

cytokinesis and spindle organization B

Related Diseases

Diseases Alias
Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic

JMML

Leukemia, Juvenile Myelomonocytic, Somatic

Juvenile Chronic Myelomonocytic Leukemia

Juvenile Chronic Myelogenous Leukemia

Leukemia, Myelomonocytic, Juvenile

Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
Blue Toe Syndrome
Pontocerebellar Hypoplasia, Type 12

PCH12

Pontocerebellar Hypoplasia Type 12

Coasy-Related Pontocerebellar Hypoplasia

Pontocerebellar Hypoplasia 12

Doid:0112327

Hypoplasia, Pontocerebellar, Type 12
Noonan Syndrome 7

NS7

Noonan Syndrome, Type 7
Acute Diarrhea
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13655 SPECC1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS13656 SPECC1L Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SPECC1 VGNC VGNC:65630
Bos taurus SPECC1 VGNC VGNC:35200
Rattus norvegicus SPECC1 RGD RGD:1309718
Canis familiaris SPECC1 VGNC VGNC:46729
Macaca mulatta SPECC1 VGNC VGNC:78021
Mus musculus SPECC1 MGD MGI:2442356