Cell Biology Antibodies 2
Anti-TSPYL1 Antibody (CAB12174)
- SKU:
- CAB12174
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-TSPYL1 Antibody |
Antibody SKU: | CAB12174 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IP |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-230 of human TSPYL1 (NP_003300.1). |
Application: | WB IP |
Recommended Dilution: | WB 1:500 - 1:2000 IP 1:50 - 1:100 |
Reactivity: | Human |
Positive Samples: | U-87MG, SKOV3, LO2, HeLa, 293T, A-549 |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-230 of human TSPYL1 (NP_003300.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MSGL DGVK RTTP LQTH SIII SDQV PSDQ DAHQ YLRL RDQS EATQ VMAE PGEG GSET VALP PPPP SEEG GVPQ DAAG RGGT PQIR VVGG RGHV AIKA GQEE GQPP AEGL AAAS VVMA ADRS LKKG VQGG EKAL EICG AQRS ASEL TAGA EAEA EEVK TGKC ATVS AAVA ERES AEVV KEGL AEKE VMEE QMEV EEQP PEGE EIEV AEED RLEE EARE EEGP WPLH EALR MD |
Gene ID: | 7259 |
Uniprot: | Q9H0U9 |
Cellular Location: | Nucleus, nucleolus |
Calculated MW: | 49kDa |
Observed MW: | 60kDa |
Synonyms: | TSPYL1, TSPYL |
Background: | The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). |
UniProt Protein Function: | TSPYL1: Defects in TSPYL1 are the cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). SIDDT is an autosomal recessive disorder. Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. Features included bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with findings such as intraabdominal testes, dysplastic testes, deficient fetal testosterone production, fusion and rugation of the gonadal sac, and partial development of the penile shaft. Female sexual development was normal. Affected infants had an unusual staccato cry, similar to the cry of a goat. Belongs to the nucleosome assembly protein (NAP) family. |
UniProt Protein Details: | Protein type:Nucleolus Chromosomal Location of Human Ortholog: 6q22.1 Cellular Component: nucleolus; nucleus Molecular Function:enzyme binding Disease: Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
NCBI Summary: | The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009] |
UniProt Code: | Q9H0U9 |
NCBI GenInfo Identifier: | 209572711 |
NCBI Gene ID: | 7259 |
NCBI Accession: | Q9H0U9.3 |
UniProt Secondary Accession: | Q9H0U9,O75885, Q5TFE6, |
UniProt Related Accession: | Q9H0U9 |
Molecular Weight: | 49kDa |
NCBI Full Name: | Testis-specific Y-encoded-like protein 1 |
NCBI Synonym Full Names: | TSPY like 1 |
NCBI Official Symbol: | TSPYL1 |
NCBI Official Synonym Symbols: | TSPYL |
NCBI Protein Information: | testis-specific Y-encoded-like protein 1 |
UniProt Protein Name: | Testis-specific Y-encoded-like protein 1 |
Protein Family: | Testis-specific Y-encoded-like protein |
UniProt Gene Name: | TSPYL1 |
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