Osteopetrosis, AR

Gene Information

Names

HUGO name: TCIRG1

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Part of the proton channel of V-ATPases (by similarity). Seems to be directly involved in T-cell activation.

Subunit:

The V-ATPase is an heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits A, D, C, C', and C''.

Subcellular location:

Membrane; multi-pass membrane protein (by similarity).

Alternative products:

Event=alternative splicing; named isoforms=2; name=long; isoid=q13488-1; sequence=displayed; name=short; isoid=q13488-2; sequence=vsp_000345; note=no experimental confirmation available;

Tissue specificity:

The long isoform is highly expressed in osteoclastomas. The short isoform is highly expressed in thymus.

Similarity:

Belongs to the V-ATPase 116 kda subunit family.

Other features

Vacuolar proton translocating atpase 116 kda subunit a isoform 3: 1-830

    N-linked (glcnac...) glycosylation sites: 41,483,503

      Other related resourses:

      Expression

      Expression pattern for human

      Tissue Expression (%) Clones
      bone_marrow 11.81 9:41353
      nerve_tissue 8.54 4:25421
      lymph_node 6.53 10:83039
      colon 5.92 11:100892
      uncharacterized_tissue 5.79 23:215582
      spleen 5.73 5:47318
      ovary 4.67 7:81370
      unclassified 4.61 8:94133
      stomach 4.43 6:73494
      bone 3.85 5:70388

      Animal models

      Mouse