Dennd1a DENN domain containing 1A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dennd1aprovided by MGI
Official Full Name: DENN domain containing 1Aprovided by MGI
Primary source: MGI:MGI:2442794
See related: Ensembl:ENSMUSG00000035392 AllianceGenome:MGI:2442794
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: connecdenn; 6030446I19Rik
Summary: Enables several functions, including SH3 domain binding activity; guanyl-nucleotide exchange factor activity; and phosphatidylinositol-3-phosphate binding activity. Involved in endocytic recycling and positive regulation of GTPase activity. Acts upstream of or within synaptic vesicle endocytosis. Located in several cellular components, including clathrin-coated vesicle membrane; dendrite; and neuronal cell body. Orthologous to human DENND1A (DENN domain containing 1A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney adult (RPKM 10.2), adrenal adult (RPKM 9.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 24.19 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (37689002..38177417, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (37798990..38287410, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dennd1a is essential for embryogenesis, probably through the mediation of endocytic recycling of selective cargos that are involved in cell signaling crucial for the development of multiple embryonic organ systems.
Title: Dennd1a, a susceptibility gene for polycystic ovary syndrome, is essential for mouse embryogenesis.
Connecdenn is a component of the endocytic machinery functioning in synaptic vesicle endocytosis, providing the first evidence of a role for a DENN domain-containing protein in endocytosis.
Title: Connecdenn, a novel DENN domain-containing protein of neuronal clathrin-coated vesicles functioning in synaptic vesicle endocytosis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

31.MMHAP63FRC10.seq (e-PCR)
- UniSTS:123950

NoName (e-PCR)
- UniSTS:234378

NoName (e-PCR)
- UniSTS:234381

D2Mit7 (e-PCR), detects polymorphism
- UniSTS:129463

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytic recycling	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of Rab protein signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within synaptic vesicle endocytosis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in clathrin-coated vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DENN domain-containing protein 1A

Names: DENN/MADD domain containing 1A; connecdenn 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001362973.1 → NP_001349902.1 DENN domain-containing protein 1A isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL805959, AL928810, AL929186, AL929238

Conserved Domains (4) summary

smart00801
Location:305 → 371

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:95 → 273

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:9 → 91

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

cl26464
Location:692 → 1018

Atrophin-1; Atrophin-1 family
NM_001362977.1 → NP_001349906.1 DENN domain-containing protein 1A isoform 3 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.

Source sequence(s)

AK137530, AL805959, AL929186

UniProtKB/TrEMBL

Q5DTW3

Conserved Domains (4) summary

smart00801
Location:273 → 339

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:63 → 241

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:26 → 59

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

cl26464
Location:617 → 943

Atrophin-1; Atrophin-1 family
NM_001362978.1 → NP_001349907.1 DENN domain-containing protein 1A isoform 4 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.

Source sequence(s)

AL805959, AL928810, AL929186, AL929238

UniProtKB/TrEMBL

Q5DTW3

Conserved Domains (3) summary

smart00801
Location:233 → 299

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:27 → 201

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

cl26464
Location:577 → 903

Atrophin-1; Atrophin-1 family
NM_146122.3 → NP_666234.3 DENN domain-containing protein 1A isoform 2

See identical proteins and their annotated locations for NP_666234.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK137530, AL805959, AL929186, BQ444119, CX563166

Consensus CDS

CCDS16007.1

UniProtKB/Swiss-Prot

A0MCI0, A2ALU2, Q8K382

Related

ENSMUSP00000099848.4, ENSMUST00000102787.10

Conserved Domains (3) summary

smart00801
Location:305 → 371

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:95 → 273

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:9 → 91

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

37689002..38177417 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030250097.2 → XP_030105957.1 DENN domain-containing protein 1A isoform X18

Conserved Domains (2) summary

smart00801
Location:46 → 112

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:390 → 716

PHA03247; large tegument protein UL36; Provisional
XM_036160931.1 → XP_036016824.1 DENN domain-containing protein 1A isoform X14

Conserved Domains (3) summary

smart00801
Location:122 → 188

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:1 → 90

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

PHA03247
Location:509 → 835

PHA03247; large tegument protein UL36; Provisional
XM_036160935.1 → XP_036016828.1 DENN domain-containing protein 1A isoform X14

Conserved Domains (3) summary

smart00801
Location:122 → 188

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:1 → 90

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

PHA03247
Location:509 → 835

PHA03247; large tegument protein UL36; Provisional
XM_036160936.1 → XP_036016829.1 DENN domain-containing protein 1A isoform X15

UniProtKB/TrEMBL

Q5DTW3

Conserved Domains (3) summary

smart00801
Location:122 → 188

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:1 → 90

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

PHA03247
Location:466 → 792

PHA03247; large tegument protein UL36; Provisional
XM_036160933.1 → XP_036016826.1 DENN domain-containing protein 1A isoform X14

Conserved Domains (3) summary

smart00801
Location:122 → 188

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:1 → 90

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

PHA03247
Location:509 → 835

PHA03247; large tegument protein UL36; Provisional
XM_036160934.1 → XP_036016827.1 DENN domain-containing protein 1A isoform X14

Conserved Domains (3) summary

smart00801
Location:122 → 188

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:1 → 90

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

PHA03247
Location:509 → 835

PHA03247; large tegument protein UL36; Provisional
XM_006498003.4 → XP_006498066.1 DENN domain-containing protein 1A isoform X5

Conserved Domains (4) summary

smart00801
Location:305 → 371

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:95 → 273

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:9 → 91

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:668 → 994

PHA03247; large tegument protein UL36; Provisional
XM_006497998.5 → XP_006498061.1 DENN domain-containing protein 1A isoform X1

Conserved Domains (4) summary

smart00801
Location:305 → 371

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:95 → 273

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:9 → 91

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:711 → 1037

PHA03247; large tegument protein UL36; Provisional
XM_030250063.1 → XP_030105923.1 DENN domain-containing protein 1A isoform X7

Conserved Domains (4) summary

smart00801
Location:275 → 341

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:65 → 243

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:14 → 61

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:662 → 988

PHA03247; large tegument protein UL36; Provisional
XM_006498001.4 → XP_006498064.1 DENN domain-containing protein 1A isoform X3

Conserved Domains (4) summary

smart00801
Location:275 → 341

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:65 → 243

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:14 → 61

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:681 → 1007

PHA03247; large tegument protein UL36; Provisional
XM_030250065.1 → XP_030105925.1 DENN domain-containing protein 1A isoform X12

UniProtKB/TrEMBL

Q5DTW3

Conserved Domains (3) summary

smart00801
Location:233 → 299

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:27 → 201

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

PHA03247
Location:620 → 946

PHA03247; large tegument protein UL36; Provisional
XM_011239087.2 → XP_011237389.1 DENN domain-containing protein 1A isoform X10

Conserved Domains (3) summary

smart00801
Location:233 → 299

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:27 → 201

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

PHA03247
Location:639 → 965

PHA03247; large tegument protein UL36; Provisional
XM_036160916.1 → XP_036016809.1 DENN domain-containing protein 1A isoform X8

Conserved Domains (4) summary

smart00801
Location:273 → 339

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:63 → 241

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

PHA03247
Location:660 → 986

PHA03247; large tegument protein UL36; Provisional

cl04085
Location:26 → 59

uDENN; uDENN domain
XM_006498002.4 → XP_006498065.1 DENN domain-containing protein 1A isoform X4

Conserved Domains (4) summary

smart00801
Location:273 → 339

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:63 → 241

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:26 → 59

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:679 → 1005

PHA03247; large tegument protein UL36; Provisional
XM_036160920.1 → XP_036016813.1 DENN domain-containing protein 1A isoform X11

Conserved Domains (4) summary

smart00801
Location:278 → 344

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:95 → 246

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:9 → 91

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:622 → 948

PHA03247; large tegument protein UL36; Provisional
XM_036160912.1 → XP_036016805.1 DENN domain-containing protein 1A isoform X6

Conserved Domains (4) summary

smart00801
Location:278 → 344

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:95 → 246

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:9 → 91

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:665 → 991

PHA03247; large tegument protein UL36; Provisional
XM_006498000.4 → XP_006498063.1 DENN domain-containing protein 1A isoform X2

Conserved Domains (4) summary

smart00801
Location:278 → 344

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:95 → 246

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:9 → 91

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:684 → 1010

PHA03247; large tegument protein UL36; Provisional
XM_030250090.2 → XP_030105950.1 DENN domain-containing protein 1A isoform X17

Conserved Domains (2) summary

smart00801
Location:46 → 112

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:433 → 759

PHA03247; large tegument protein UL36; Provisional
XM_030250087.2 → XP_030105947.1 DENN domain-containing protein 1A isoform X16

Conserved Domains (2) summary

smart00801
Location:46 → 112

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:452 → 778

PHA03247; large tegument protein UL36; Provisional
XM_030250088.2 → XP_030105948.1 DENN domain-containing protein 1A isoform X16

Conserved Domains (2) summary

smart00801
Location:46 → 112

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:452 → 778

PHA03247; large tegument protein UL36; Provisional
XM_030250071.1 → XP_030105931.1 DENN domain-containing protein 1A isoform X13

Conserved Domains (3) summary

smart00801
Location:122 → 188

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:1 → 90

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

PHA03247
Location:528 → 854

PHA03247; large tegument protein UL36; Provisional
XM_006498004.1 → XP_006498067.1 DENN domain-containing protein 1A isoform X9

Conserved Domains (4) summary

smart00801
Location:306 → 372

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:96 → 274

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:10 → 92

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:650 → 976

PHA03247; large tegument protein UL36; Provisional
XM_036160937.1 → XP_036016830.1 DENN domain-containing protein 1A isoform X16

Conserved Domains (2) summary

smart00801
Location:46 → 112

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

PHA03247
Location:452 → 778

PHA03247; large tegument protein UL36; Provisional