DENND4A - DENN domain containing 4A Gene

Also Known as IRLB; MYCPBP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10260

About DENND4A

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,659,123-65,792,293 (from NCBI)

This gene has 9 transcripts (splice variants), 201 orthologues and 3 paralogues. Ubiquitous expression in bone marrow (RPKM 7.2), lymph node (RPKM 6.2) and 25 other tissues.

Summary

This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]

DENND4A Products (5)

mRNA Protein Name
NM_001144823.2 NP_001138295.1 C-myc promoter-binding protein isoform 1
NM_001320835.1 NP_001307764.1 C-myc promoter-binding protein isoform 3
NM_001376919.1 NP_001363848.1 C-myc promoter-binding protein isoform 2
NM_001376920.1 NP_001363849.1 C-myc promoter-binding protein isoform 2
NM_005848.4 NP_005839.3 C-myc promoter-binding protein isoform 2
Molecular Function GO Annotation Evidence References Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
20937701 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15161933 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DENND4A Protein Structure

uDENN

uDENN: uDENN domain (212 - 276)

DENN

DENN: DENN (AEX-3) domain (309 - 492)

dDENN

dDENN: dDENN domain (559 - 632)

  • 0
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  • 600
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  • 1200
  • 1500
  • 1863 a.a.
Protein Preferred Names Protein Names

C-myc promoter-binding protein

  • DENN domain-containing protein 4A

DENND4A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DENND4A Q7Z401 YWHAZ Homo sapiens P63104 15161933
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Trichohepatoenteric Syndrome 1
  • Trichohepatoenteric Syndrome

  • Syndromic Diarrhea

  • Tricho-Hepato-Enteric Syndrome

  • Sd/The

  • Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

  • THES1

  • Phenotypic Diarrhea

  • Thes

  • Phenotypic Diarrhea Of Infancy

  • Diarrhea, Syndromic

  • Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

  • Intractable Diarrhea With Phenotypic Anomalies

  • Syndromatic Diarrhea

  • Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Alkuraya-Kucinskas Syndrome
  • ALKKUCS

  • Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome

  • Arthrogryposis

Spastic Paraplegia 39, Autosomal Recessive
  • SPG39

  • Ntemnd

  • Hereditary Spastic Paraplegia 39

  • Nte-Related Motor Neuron Disorder

  • Autosomal Recessive Spastic Paraplegia Type 39

  • Spastic Paraplegia Due To Neuropathy Target Esterase Mutation

  • Spastic Paraplegia Due To Nte Mutation

  • Spastic Paraplegia 39

  • Autosomal Recessive Spastic Paraplegia 39

  • Nte Related Motor Neuron Disorder

  • Paraplegia, Spastic, Type 39

Folic Acid Deficiency Anemia
  • Folate Deficiency Anaemia

  • Folic Acid Deficiency Anaemia

  • Folate Deficiency Anemia

  • Folate-Deficiency Anaemia

  • Folate-Deficiency Anemia

  • Folate-Deficient Megaloblastic Anaemia

  • Megaloblastic Anemia Due To Folate Deficiency

  • Anaemia Of Folate Deficiency

  • Folate Or Folic Acid Deficiency Anaemia Nos

  • Folic Acid Deficiency Anaemia Nos

  • Acquired Megaloblastic Anaemia Due To Nutritional Folate Deficiency

  • Dietary Folic Acid Deficiency Anaemia

  • Dietary Folate Deficiency Anaemia

  • Folate Deficiency Anaemia Due To Dietary Causes

  • Goat'S Milk Anaemia

  • Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Increased Requirement

  • Megaloblastic Anaemia Due To Increased Requirements Of Folate

  • Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Intestinal Disorders

  • Acquired Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

  • Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris DENND4A VGNC VGNC:39890
Felis catus DENND4A VGNC VGNC:61437
Mus musculus DENND4A MGD MGI:2142979
Bos taurus DENND4A VGNC VGNC:27999
Macaca mulatta DENND4A VGNC VGNC:71697
Rattus norvegicus DENND4A RGD RGD:1562639
Others DENND4A NCBI