Griscelli syndrome, type 2

Gene Information

Names

HUGO name: RAB27A

Alias(es):

  • GS2
  • HsT18676
  • RAB27
  • RAM
  • GTP-binding protein Ram
  • RAB27A, member RAS oncogene family
  • RAB27A, member RAS oncogene family
  • Ras-related protein
  • GTP-binding protein Ram

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Subunit:

Binds SYT11, SYTl2, SLAC2b, MYRIP, SYTl3, SYTl4 and SYTl5. Binds MLPH.

Subcellular location:

Membrane-bound

Tissue specificity:

Found in all the examined tissues except in brain. Low expression was found in thymus, kidney, muscle and placenta. Detected in melanocytes, and in most tumor cell lines examined.

Similarity:

Belongs to the small GTPase superfamily. RAB family.

Structures (PDB)

Domains

Effector region domain: 38-46

    Other features

    GTP nucleotide phosphate-binding region: 16-23

      GTP nucleotide phosphate-binding region: 74-78

        GTP nucleotide phosphate-binding region: 133-136

          Other related resourses:

          Expression

          Expression pattern for human

          Tissue Expression (%) Clones
          follicular lymphoma 14.90 2:927
          prostate 6.18 2:2237
          olfactory epithelium 5.63 1:1227
          malignant melanoma, metastatic to lymph node 5.36 2:2577
          melanoma (MeWo cell line) 4.49 1:1539
          melanotic melanoma, high MDR 4.29 4:6448
          lung carcinoma 4.18 2:3303
          mucoepidermoid carcinoma 4.15 4:6654
          myeloid cells, 18 pooled CML cases, BCR/ABL rearrangement positive, includes both chronic phase and myeloid blast crisis 3.02 1:2287
          melanotic melanoma, high MDR (cell line) 2.77 4:9990

          Animal models

          Mouse