1. Gene
  2. DENND1A - DENN domain containing 1A Gene

DENND1A - DENN domain containing 1A Gene

Homo sapiens

Also known as FAM31A; KIAA1608

Gene ID: 57706 | Gene type: protein coding

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

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) ≥95%

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

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