ENSG00000184014


Homo sapiens

Features
Gene ID: ENSG00000184014
  
Biological name :DENND5A
  
Synonyms : DENND5A / DENN domain containing 5A / Q6IQ26
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: p15.4
Gene start: 9138825
Gene end: 9265390
  
Corresponding Affymetrix probe sets: 212561_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000435368
Ensembl peptide - ENSP00000435038
Ensembl peptide - ENSP00000435866
Ensembl peptide - ENSP00000436780
Ensembl peptide - ENSP00000328524
Ensembl peptide - ENSP00000432428
Ensembl peptide - ENSP00000433483
Ensembl peptide - ENSP00000433925
Ensembl peptide - ENSP00000434237
Ensembl peptide - ENSP00000434397
NCBI entrez gene - 23258     See in Manteia.
OMIM - 617278
RefSeq - XM_011519953
RefSeq - NM_001243254
RefSeq - NM_001348748
RefSeq - NM_001348749
RefSeq - NM_001348750
RefSeq - NM_015213
RefSeq - XM_005252832
RefSeq Peptide - NP_001335678
RefSeq Peptide - NP_001335679
RefSeq Peptide - NP_001230183
RefSeq Peptide - NP_001335677
RefSeq Peptide - NP_056028
swissprot - H0YDE6
swissprot - H0YDS8
swissprot - H0YDV6
swissprot - H0YEA8
swissprot - H0YE63
swissprot - Q6IQ26
swissprot - B4DFB6
swissprot - E9PIS3
swissprot - H0YCW5
Ensembl - ENSG00000184014
  
Related genetic diseases (OMIM): 617281 - Epileptic encephalopathy, early infantile, 49, 617281
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dennd5aENSDARG00000017006Danio rerio
 DENND5AENSGALG00000005840Gallus gallus
 Q6PAL8ENSMUSG00000035901Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q6ZUT9 / DENND5B / DENN domain containing 5BENSG0000017045670
Q5VZ89 / DENND4C / DENN domain containing 4CENSG0000013714518
Q7Z401 / DENND4A / DENN domain containing 4AENSG0000017448517
O75064 / DENND4B / DENN domain containing 4BENSG0000019883716
MADD / Q8WXG6 / MAP kinase activating death domainENSG0000011051413
Q8TEH3 / DENND1A / DENN domain containing 1AENSG0000011952211
A2RUS2 / DENND3 / DENN domain containing 3ENSG0000010533911
Q6P3S1 / DENND1B / DENN domain containing 1BENSG0000021304710
Q8IV53 / DENND1C / DENN domain containing 1CENSG000002057449
Q68D51 / DENND2C / DENN domain containing 2CENSG000001759849
Q9ULE3 / DENND2A / DENN domain containing 2AENSG000001469669
ST5 / P78524 / suppression of tumorigenicity 5ENSG000001664449
Q9H6A0 / DENND2D / DENN domain containing 2DENSG000001627777


Protein motifs (from Interpro)
Interpro ID Name
 IPR001024  PLAT/LH2 domain
 IPR001194  cDENN domain
 IPR004012  RUN domain
 IPR005112  dDENN domain
 IPR005113  uDENN domain
 IPR036392  PLAT/LH2 domain superfamily
 IPR037213  RUN domain superfamily
 IPR037516  Tripartite DENN domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0010977 negative regulation of neuron projection development ISS
 biological_processGO:0042147 retrograde transport, endosome to Golgi IMP
 biological_processGO:0050982 detection of mechanical stimulus IBA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005802 trans-Golgi network IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030904 retromer complex IDA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005262 calcium channel activity IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0017137 Rab GTPase binding IEA


Pathways (from Reactome)
Pathway description
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000188419 CHM / P24386 / CHM, Rab escort protein 1  / reaction
 ENSG00000057608 GDI2 / P50395 / GDP dissociation inhibitor 2  / reaction
 ENSG00000179331 Q14964 / RAB39A / RAB39A, member RAS oncogene family  / reaction
 ENSG00000203668 CHML / P26374 / CHM like, Rab escort protein 2  / reaction
 ENSG00000203879 GDI1 / P31150 / GDP dissociation inhibitor 1  / reaction






 

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