SPECC1 (sperm antigen HCMOGT-1)

2004-09-01   Claudio Panarello  

Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy

Identity

HGNC
SPECC1
LOCATION
17p11.2
LOCUSID
92521
ALIAS
CYTSB,HCMOGT-1,HCMOGT1,NSP,NSP5
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

2,7 Kb; coding sequence: 2,2Kb

Proteins

Expression

Widely expressed.

Implicated in

Entity name
t(5;17)(q33;p11.2) ---> PDGFRB/SPECC1
Disease
Juvenile myelomonocytic leukemia.
Hybrid gene
5 HCMOGT-1/3 PDGFRB

Bibliography

Pubmed IDLast YearTitleAuthors
150873712004Nitrosative stress in rotated three-dimensional colorectal carcinoma cell cultures induces microtubule depolymerization and apoptosis.Laguinge LM et al

Other Information

Locus ID:

NCBI: 92521
MIM: 608793
HGNC: 30615
Ensembl: ENSG00000128487

Variants:

dbSNP: 92521
ClinVar: 92521
TCGA: ENSG00000128487
COSMIC: SPECC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128487ENST00000261503Q5M775
ENSG00000128487ENST00000261503A0A024QYY9
ENSG00000128487ENST00000395522Q5M775
ENSG00000128487ENST00000395525Q5M775
ENSG00000128487ENST00000395527Q5M775
ENSG00000128487ENST00000395527A0A024QYY9
ENSG00000128487ENST00000395529Q5M775
ENSG00000128487ENST00000395530Q5M775
ENSG00000128487ENST00000467722J3QKL1
ENSG00000128487ENST00000578153J3KTH6
ENSG00000128487ENST00000578321J3KS18
ENSG00000128487ENST00000580934J3KRD8
ENSG00000128487ENST00000581399J3KSG2
ENSG00000128487ENST00000581973J3QRQ9
ENSG00000128487ENST00000582226J3KRN9
ENSG00000128487ENST00000582604J3QSD6
ENSG00000128487ENST00000583463J3QS22
ENSG00000128487ENST00000583482J3KTI9
ENSG00000128487ENST00000583528J3KRB9
ENSG00000128487ENST00000584527J3QQM0

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
221707622011A novel dual signaling axis for NSP 5a3a induced apoptosis in head and neck carcinoma.4
221707622011A novel dual signaling axis for NSP 5a3a induced apoptosis in head and neck carcinoma.4
202374202010NSP 5a3a's link to nuclear-cyto proteins B23 and hnRNP-L between normal and aberrant breast cell lines.10
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
213110982010NSP 5a3a: a potential novel cancer target in head and neck carcinoma.11
202374202010NSP 5a3a's link to nuclear-cyto proteins B23 and hnRNP-L between normal and aberrant breast cell lines.10
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
213110982010NSP 5a3a: a potential novel cancer target in head and neck carcinoma.11
150873722004HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2).14
150873722004HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2).14

Citation

Claudio Panarello

SPECC1 (sperm antigen HCMOGT-1)

Atlas Genet Cytogenet Oncol Haematol. 2004-09-01

Online version: http://atlasgeneticsoncology.org/gene/174/teaching-explorer/js/haematological-explorer/