Griscelli syndrome, type 3

Gene Information

Names

HUGO name: MLPH

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

RAB effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27a and the motor protein MYO5a.

Subunit:

Binds RAB27a that has been activated by GTP-binding via its N-terminus. Binds MYO5a via its C-terminal coiled coil domain.

Subcellular location:

Cytoplasm

Alternative products:

Event=alternative splicing; named isoforms=2; name=1; isoid=q9bv36-1; sequence=displayed; name=2; isoid=q9bv36-2; sequence=vsp_007554;

Similarity:

Contains 1 fyve-type zinc finger.

Structures (PDB)

Domains

RabBD domain: 4-124

    Other features

    Melanophilin: 1-600

      Zinc finger region Fyve-type: 64-107

        Other related resourses:

        Expression

        Expression pattern for human

        Tissue Expression (%) Clones
        mammary_gland 17.84 76:79431
        rectum 9.71 3:5759
        prostate 9.05 58:119494
        trachea 7.64 19:46384
        abdominal_cavity 6.33 16:47125
        skin 6.01 56:173577
        thyroid 3.65 2:10201
        uterus 2.96 30:189232
        nerve_tissue 2.93 4:25421
        salivary_gland 2.87 3:19467

        Animal models

        Mouse