Official symbol | DENND5A |
Gene id | 23258 |
Organism | Homo sapiens |
Official full symbol | DENN domain containing 5A |
Gene type | protein-coding |
Also known as | EIEE49, RAB6IP1 |
Summary | This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. |
Genomic regions | Chromosome 11 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
DENND5A-201 | ENST00000328194.8 | 4991 | 1287aa | Protein coding | CCDS31423 | Q6IQ26-1 | NM_015213.4 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
DENND5A-209 | ENST00000530044.5 | 4060 | 1241aa | Protein coding | CCDS58119 | Q6IQ26-2 | - | TSL:2, GENCODE basic, |
DENND5A-219 | ENST00000679568.1 | 4796 | 1307aa | Protein coding | - | - | - | GENCODE basic, |
DENND5A-236 | ENST00000681203.1 | 4710 | 1263aa | Protein coding | - | - | - | GENCODE basic, APPRIS ALT2, |
DENND5A-225 | ENST00000680294.1 | 4527 | 1218aa | Protein coding | - | - | - | GENCODE basic, |
DENND5A-215 | ENST00000533737.5 | 743 | 195aa | Protein coding | - | H0YEA8 | - | CDS 5' incomplete, TSL:3, |
DENND5A-207 | ENST00000528725.5 | 728 | 186aa | Protein coding | - | H0YDS8 | - | CDS 5' incomplete, TSL:3, |
DENND5A-202 | ENST00000524446.2 | 566 | 189aa | Protein coding | - | H0YCW5 | - | CDS 5' and 3' incomplete, TSL:4, |
DENND5A-223 | ENST00000679999.1 | 5182 | 1136aa | Nonsense mediated decay | - | - | - | - |
DENND5A-210 | ENST00000530780.2 | 4765 | 69aa | Nonsense mediated decay | - | E9PIS3 | - | TSL:3, |
DENND5A-228 | ENST00000680554.1 | 4643 | 1031aa | Nonsense mediated decay | - | - | - | - |
DENND5A-231 | ENST00000680742.1 | 4611 | 1127aa | Nonsense mediated decay | - | - | - | - |
DENND5A-227 | ENST00000680470.1 | 4509 | 660aa | Nonsense mediated decay | - | - | - | - |
DENND5A-224 | ENST00000680252.1 | 4358 | 873aa | Nonsense mediated decay | - | - | - | CDS 5' incomplete, |
DENND5A-234 | ENST00000681158.1 | 4272 | 873aa | Nonsense mediated decay | - | - | - | CDS 5' incomplete, |
DENND5A-204 | ENST00000526707.5 | 2861 | 807aa | Nonsense mediated decay | - | B4DFB6 | - | TSL:2, |
DENND5A-206 | ENST00000527896.1 | 604 | 104aa | Nonsense mediated decay | - | H0YDV6 | - | CDS 5' incomplete, TSL:3, |
DENND5A-230 | ENST00000680599.1 | 4736 | No protein | Processed transcript | - | - | - | - |
DENND5A-226 | ENST00000680358.1 | 3996 | No protein | Processed transcript | - | - | - | - |
DENND5A-235 | ENST00000681173.1 | 3447 | No protein | Processed transcript | - | - | - | - |
DENND5A-229 | ENST00000680576.1 | 8203 | No protein | Retained intron | - | - | - | - |
DENND5A-216 | ENST00000679446.1 | 6692 | No protein | Retained intron | - | - | - | - |
DENND5A-233 | ENST00000680885.1 | 6376 | No protein | Retained intron | - | - | - | - |
DENND5A-217 | ENST00000679458.1 | 6097 | No protein | Retained intron | - | - | - | - |
DENND5A-222 | ENST00000679926.1 | 5996 | No protein | Retained intron | - | - | - | - |
DENND5A-218 | ENST00000679460.1 | 5750 | No protein | Retained intron | - | - | - | - |
DENND5A-220 | ENST00000679745.1 | 5199 | No protein | Retained intron | - | - | - | - |
DENND5A-238 | ENST00000681425.1 | 5166 | No protein | Retained intron | - | - | - | - |
DENND5A-237 | ENST00000681371.1 | 4560 | No protein | Retained intron | - | - | - | - |
DENND5A-213 | ENST00000531747.2 | 4367 | No protein | Retained intron | - | - | - | TSL:3, |
DENND5A-211 | ENST00000530867.2 | 4278 | No protein | Retained intron | - | - | - | TSL:2, |
DENND5A-221 | ENST00000679773.1 | 3855 | No protein | Retained intron | - | - | - | - |
DENND5A-205 | ENST00000527700.5 | 3593 | No protein | Retained intron | - | - | - | TSL:2, |
DENND5A-232 | ENST00000680791.1 | 3572 | No protein | Retained intron | - | - | - | - |
DENND5A-239 | ENST00000681639.1 | 2965 | No protein | Retained intron | - | - | - | - |
DENND5A-208 | ENST00000529977.5 | 2606 | No protein | Retained intron | - | - | - | TSL:2, |
DENND5A-203 | ENST00000525784.6 | 2553 | No protein | Retained intron | - | - | - | TSL:3, |
DENND5A-240 | ENST00000681915.1 | 2241 | No protein | Retained intron | - | - | - | - |
DENND5A-214 | ENST00000532696.2 | 2220 | No protein | Retained intron | - | - | - | TSL:2, |
DENND5A-212 | ENST00000531580.1 | 564 | No protein | Retained intron | - | - | - | TSL:4, |
Target Gene | DENND5A |
This KO Strategy | loading |
Red Cotton™ Notes | Gene DENND5A had been KO in hela cell line. |
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