DTBP1 rabbit pAb

CAT: 0855-ES16886-01Size: 50 µLDry Ice: NoHazardous: No

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CAT#:0855-ES16886-01Size:50 µL

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Background

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC) . Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Description

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008],

UniProt

Q96EV8

Swiss Prot

Q96EV8

Reactivity

Human; Mouse; Rat

Immunogen

Synthesized peptide derived from human DTBP1 AA range: 56-106

Target

DTBP1

Clonality

Polyclonal

Source

Rabbit

Applications

Concentration

1 mg/ml

Dilution

WB 1:500-2000

Buffer

-20°C/1 year

Storage Conditions

-20°C/1 year

Fragment

IgG

Subcellular Location

[Isoform 1]: Cytoplasm . Cytoplasmic vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side . Endosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Melanosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Cell junction, synapse, postsynaptic density . Endoplasmic reticulum . Nucleus . Mainly cytoplasmic but shuttles between the cytoplasm and nucleus. Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of genes such as SYN1. Detected in neuron cell bodies, axons and dendrites. Mainly located to the postsynaptic density. Detected at tubulovesicular elements in the vicinity of the Golgi apparatus and of melanosomes. Occasionally detected at the membrane of pigmented melano

Gene ID (Human)

84062

UniProtKB · Q96EV8

Dysbindin

DTBP1_HUMAN · Homo sapiens

View on UniProt ↗

Primary accession: Q96EV8
Review status: UniProtKB reviewed (Swiss-Prot)
Gene: DTNBP1
Protein existence: 1: Evidence at protein level
Organism: Homo sapiens (Human)
Taxonomy ID: 9606
Alternative names: —
EC number: —
Processing: —
Secondary accessions: A8K3V3, Q5THY3, Q5THY4, Q96NV2, Q9H0U2, Q9H3J5

Protein keywords

Disease

AlbinismHermansky-Pudlak syndromeSchizophrenia

Coding sequence diversity

Alternative initiationAlternative splicing

Cellular component

Cell membraneCytoplasmCytoplasmic vesicleEndoplasmic reticulumEndosomeMembraneNucleusPostsynaptic cell membraneSynapse

Domain

Coiled coil

PTM

PhosphoproteinUbl conjugation

Technical term

Proteomics identificationReference proteome

Biological process

Sensory transduction

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