Recombinant Human Neuroblastoma-amplified sequence (NBAS), Truncated

Uniprot Id

A2RRP1

Target Species

Human

Target Name

NBAS

Target Full Name

NBAS subunit of NRZ tethering complex

Target Function

Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER.

Target Involvement

Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH); Infantile liver failure syndrome 2 (ILFS2)

Target Subcellular Location

Cytoplasm. Endoplasmic reticulum. Endoplasmic reticulum membrane; Peripheral membrane protein.

Target Tissue Specificity

Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Well expressed in retinal ganglion cells, epidermal skin cells, and leukocytes. Up-regulated together with N-myc in some neuroblas

Target Synonyms

NBAS; NBAS_HUMAN; Neuroblastoma-amplified gene protein; Neuroblastoma-amplified sequence

Target Background

This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly.