DENND1A - DENN domain containing 1A Gene

Also Known as FAM31A; KIAA1608

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57706

About DENND1A

Cytogenetic location: 9q33.3 Genomic coordinates (GRCh38): 9:123,379,658-123,930,126 (from NCBI)

This gene has 13 transcripts (splice variants), 216 orthologues and 2 paralogues. Ubiquitous expression in spleen (RPKM 4.6), kidney (RPKM 4.6) and 25 other tissues.

Summary

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

DENND1A Products (10)

mRNA Protein Name
NM_001352964.2 NP_001339893.1 DENN domain-containing protein 1A isoform 3
NM_001352965.2 NP_001339894.1 DENN domain-containing protein 1A isoform 4
NM_001352966.2 NP_001339895.1 DENN domain-containing protein 1A isoform 5
NM_001352967.2 NP_001339896.1 DENN domain-containing protein 1A isoform 6
NM_001352968.2 NP_001339897.1 DENN domain-containing protein 1A isoform 7
NM_001393654.1 NP_001380583.1 DENN domain-containing protein 1A isoform 8
NM_001400446.1 NP_001387375.1 DENN domain-containing protein 1A isoform 9
NM_001400449.1 NP_001387378.1 DENN domain-containing protein 1A isoform 10
NM_020946.2 NP_065997.1 DENN domain-containing protein 1A isoform 1
NM_024820.3 NP_079096.2 DENN domain-containing protein 1A isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
20937701 GOA
Biological Process GO Annotation Evidence References Source
involved in endocytosis IMP
IMP: Inferred from mutant phenotype
20937701 GOA
involved in regulation of Rab protein signal transduction IDA
IDA: Inferred from direct assay
20937701 GOA
Cellular Component GO Annotation Evidence References Source
located in clathrin-coated vesicle IDA
IDA: Inferred from direct assay
20937701 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

DENND1A Protein Structure

uDENN

uDENN: uDENN domain (30 - 88)

DENN

DENN: DENN (AEX-3) domain (94 - 273)

dDENN

dDENN: dDENN domain (306 - 371)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1009 a.a.
Protein Preferred Names Protein Names

DENN domain-containing protein 1A

  • DENN/MADD domain containing 1A

Recombinant DENND1A Proteins

Cat. No. Product Name Accession Purity
HY-P71599 DENND1A Protein, Human (His-SUMO) Q8TEH3-2 (M1-H559) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Polycystic Ovary Syndrome

  • Polycystic Ovarian Syndrome

  • Pcos

  • Polycystic Ovarian Disease

  • Polycystic Ovaries

  • Stein-Leventhal Syndrome

  • Multicystic Ovaries

  • Polycystic Ovary

  • Sclerocystic Ovaries

  • Sclerocystic Ovary Syndrome

  • Stein-Leventhal Synd.

  • Cystic Disease Of Ovaries

  • Cystic Disease Of Ovary

  • Pco

  • Pcod

  • Sclerocystic Ovarian Degeneration

  • Polycystic Ovary Syndrome, Susceptibility To

  • Pcos - [Polycystic Ovary Syndrome]

  • Polycystic Ovary Nos

  • Pco - [Polycystic Ovary]
Ovarian Disease

  • Ovarian Dysfunction

  • Ovarian Diseases

  • Ovarian Disorders

  • Disorder Of Endocrine Ovary
Disorder Of Sexual Development

  • Disorder Of Sex Development

  • Disorders Of Sex Development

  • Sex Development Disorder

  • Sex Differentiation Disease

  • Dsd

  • Sex Differentiation Disorders
Lipoid Congenital Adrenal Hyperplasia

  • Congenital Adrenal Hyperplasia

  • Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

  • Congenital Lipoid Adrenal Hyperplasia

  • Lipoid Cah

  • Lipoid Adrenal Hyperplasia

  • Adrenal Hyperplasia 1

  • Cah

  • Clah

  • LCAH

  • Adrenal Hyperplasia I

  • Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

  • Congenital Adrenal Hyperplasia Lipoid

  • Adrenal Hyperplasia, Congenital

  • Congenital Adrenal Hyperplasia, Lipoid

  • AH1

  • Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

  • Adrenal Hyperplasia Congenital

  • Hyperplasia, Adrenal, Lipoid, Congenital

  • Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

  • Congenital Adrenal Cortical Hyperplasia

  • Congenital Adrenal Gland Hyperplasia

  • Congenital Adrenogenital Syndrome

  • Congenital Hyperadrenocorticism

  • Congenital Adrenogenitalism

  • Congenital Female Adrenal Pseudohermaphroditism
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03685 DENND1A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus DENND1A VGNC VGNC:102917
Mus musculus DENND1A MGD MGI:2442794
Canis familiaris DENND1A VGNC VGNC:39884
Bos taurus DENND1A VGNC VGNC:27993
Rattus norvegicus DENND1A RGD RGD:1307927
Macaca mulatta DENND1A VGNC VGNC:71814
Others DENND1A NCBI