rpsa-1

Caenorhabditis elegans

Predicted to be a structural constituent of ribosome. Predicted to be involved in cytoplasmic translation and ribosomal small subunit assembly. Predicted to be located in cytoplasm and ribosome. Predicted to be part of cytosolic small ribosomal subunit. Expressed in tail. Is an ortholog of human RPSA (ribosomal protein SA).

C27F2.4

Caenorhabditis elegans

Predicted to enable rRNA (guanine) methyltransferase activity. Predicted to be involved in rRNA (guanine-N7)-methylation. Predicted to be located in nucleolus. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor).

drr-2

Caenorhabditis elegans

Predicted to enable RNA binding activity. Part of eukaryotic 48S preinitiation complex. Expressed in several structures, including coelomocyte; excretory canal; neurons; ventral nerve cord; and vulva. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human EIF4H (eukaryotic translation initiation factor 4H).

nsun-1

Caenorhabditis elegans

Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in several processes, including negative regulation of cellular response to heat; negative regulation of locomotion involved in locomotory behavior; and positive regulation of reproductive process. Predicted to be located in nucleolus. Expressed widely. Used to study Williams-Beuren syndrome. Is an ortholog of human NOP2 (NOP2 nucleolar protein).

W09G3.7

Caenorhabditis elegans

Predicted to enable guanyl-nucleotide exchange factor activity and rRNA binding activity. Predicted to be involved in positive regulation of mitochondrial translation. Predicted to be located in mitochondrial inner membrane. Expressed in amphid neurons; hypodermis; and intestine. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human RCC1L (RCC1 like).

PGRP-SA

Drosophila melanogaster

Peptidoglycan recognition protein SA (PGRP-SA) encodes a secreted protein that mediates Toll pathway activation during bacterial infection. It binds to peptidoglycans and, together with the product of GNBP1, activates the serine protease encoded by modSP.

fah-1

Caenorhabditis elegans

Predicted to enable fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Expressed in hypodermis. Used to study tyrosinemia type I. Human ortholog(s) of this gene implicated in tyrosinemia type I. Is an ortholog of human FAH (fumarylacetoacetate hydrolase).

sa

Drosophila melanogaster

spermatocyte arrest (sa) encodes a testis binding protein associated factor involved in control of the male meiotic cycle, gene expression regulation, and spermatid differentiation.

cpi-2

Caenorhabditis elegans

Enables cysteine-type endopeptidase inhibitor activity. Involved in positive regulation of vitellogenesis; regulation of oocyte development; and regulation of protein processing. Located in extracellular space and yolk granule. Expressed in hypodermis; pharyngeal gland cell; and pharyngeal muscle cell. Human ortholog(s) of this gene implicated in several diseases, including Alzheimer's disease; CST3-related cerebral amyloid angiopathy; artery disease (multiple); and autoimmune disease of the nervous system (multiple). Is an ortholog of several human genes including CST1 (cystatin SN); CST2 (cystatin SA); and CST3 (cystatin C).

SPDYE1

Homo sapiens

This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]