Schimke immuno-osseous dysplasia

Gene Information

Names

HUGO name: SMARCAL1

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Possesses intrinsic ATP-dependent nucleosome remodelling activity (by similarity)

Subcellular location:

Nucleus (by similarity)

Tissue specificity:

Ubiquitously expressed, with high levels in testis

Similarity:

Belongs to the SNF2/RAD54 helicase family

Structures (PDB)

Domains

HARP 1 domain: 248-302

    HARP 2 domain: 343-397

      Helicase ATP-binding domain: 445-600

        Helicase C-terminal domain: 716-869

          Expression

          Expression pattern for human

          Tissue Expression (%) Clones
          tongue 8.25 5:37267
          bone_marrow 7.43 5:41353
          umbilical_cord 6.59 1:9321
          testis 6.30 29:282747
          thymus 5.36 6:68776
          cervix 4.65 3:39652
          connective_tissue 4.48 7:96057
          blood 4.00 4:61437
          other 2.83 9:195669
          lymph 2.81 2:43667

          Animal models

          Mouse