| Tdark | ELMO domain-containing protein 3 |
Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity.
This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| ductal carcinoma in situ | 1745 | 1.4e-03 |
| invasive ductal carcinoma | 2950 | 6.6e-03 |
| breast carcinoma | 1614 | 8.5e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Nonsyndromic deafness | 121 | 3.289 | 1.6 |
| Disease | Target Count |
|---|---|
| DEAFNESS, AUTOSOMAL RECESSIVE 88 | 1 |
| Disease | Target Count |
|---|---|
| Deafness, autosomal recessive, 88 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| breast carcinoma | -1.100 | 8.5e-03 |
| ductal carcinoma in situ | -1.800 | 1.4e-03 |
| invasive ductal carcinoma | -2.000 | 6.6e-03 |
| PMID | Text | |
|---|---|---|
| 24616099 | The non-opioid sigma-1 receptor (S1R) was identified as a novel effector of GAP activity of ELMOD1-3 proteins as its direct binding to either ELMOD1 or ELMOD2 resulted in loss of GAP activity. | |
| 24039609 | Collectively, our data provide the first insights into the expression and biochemical properties of ELMOD3 and highlight its functional links to sound perception and actin cytoskeleton. |
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVST 1 - 70 EVVRAQEEWEAVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLF 71 - 140 GPPKLHQRLREERDLVLTIAQCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDL 141 - 210 RGAGFLALLHLLYLVMDSKTLPMAQEIFRLSRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKV 211 - 280 IPVVNSFYAATFLHLAHVWRTQRKTISDSGFVLKELEVLAKKSPRRLLKTLELYLARVSKGQASLLGAQK 281 - 350 CYGPEAPPFKDLTFTGESDLQSHSSEGVWLI 351 - 381 //
| PMID | Year | Title | |
|---|---|---|---|
| 25416956 | 2014 | A proteome-scale map of the human interactome network. | |
| 24616099 | 2014 | Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases. | |
| 24039609 | 2013 | An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. | |
| 23014990 | 2012 | ELMO domains, evolutionary and functional characterization of a novel GTPase-activating protein (GAP) domain for Arf protein family GTPases. | |
| 17974005 | 2007 | The full-ORF clone resource of the German cDNA Consortium. | |
| 17452337 | 2007 | ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs. | |
| 17207965 | 2007 | hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. | |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. | |
| 15815621 | 2005 | Generation and annotation of the DNA sequences of human chromosomes 2 and 4. | |
| 15498874 | 2004 | Large-scale cDNA transfection screening for genes related to cancer development and progression. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
