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MITF (phospho Ser180) rabbit pAb

CAT: 0855-ES6245-01Size: 50 µLDry Ice: NoHazardous: No
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Background
This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Description
This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008],
UniProt
O75030
Swiss Prot
O75030
Reactivity
Human; Mouse; Monkey
Immunogen
The antiserum was produced against synthesized peptide derived from human MITF around the phosphorylation site of Ser180/73. AA range:151-200
Clonality
Polyclonal
Source
Rabbit
Applications
WB; IHC; IF; ELISA
Concentration
1 mg/ml
Dilution
Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/100 - 1/300. ELISA: 1/10000. Not yet tested in other applications.
Molecular Weight
52kD
Storage Conditions
-20°C/1 year
Observed Molecular Weight
52kD
Fragment
IgG
Subcellular Location
Nucleus . Cytoplasm . Found exclusively in the nucleus upon phosphorylation. .
Other Product Names
MITF; BHLHE32; Microphthalmia-associated transcription factor; Class E basic helix-loop-helix protein 32; bHLHe32
Gene ID (Human)
4286

UniProtKB · O75030

Microphthalmia-associated transcription factor

MITF_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
O75030
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
MITF
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
—
Processing
—
Secondary accessions
B4DJL2, D3K197, E9PFN0, Q14841, Q9P2V0, Q9P2V1, Q9P2V2, Q9P2Y8
Protein keywords

Technical term

3D-structureProteomics identificationReference proteome

Molecular function

ActivatorDevelopmental proteinDNA-binding

Disease

AlbinismDeafnessDisease variantMicrophthalmiaOsteopetrosisWaardenburg syndrome

Coding sequence diversity

Alternative splicing

Domain

Coiled coil

Cellular component

CytoplasmLysosomeMembraneNucleus

PTM

Isopeptide bondPhosphoproteinUbl conjugation

Biological process

TranscriptionTranscription regulation

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