Dennd5a DENN domain containing 5A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dennd5aprovided by MGI
Official Full Name: DENN domain containing 5Aprovided by MGI
Primary source: MGI:MGI:1201681
See related: Ensembl:ENSMUSG00000035901 AllianceGenome:MGI:1201681
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: ORF37; Rab6ip1; mKIAA1091; 1500012B19Rik
Summary: Enables small GTPase binding activity. Predicted to be involved in negative regulation of neuron projection development and retrograde transport, endosome to Golgi. Located in Golgi apparatus. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 49. Orthologous to human DENND5A (DENN domain containing 5A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 51.7), frontal lobe adult (RPKM 39.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 E3; 7 57.62 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (109492987..109559677, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (109893780..109960470, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In contrast to wild-type R6IP1-Rab6 crystals, which took several weeks to grow to full size, the engineered R6IP1 (RPdel)-Rab6 crystals could be grown in a matter of days
Title: Crystallization of an engineered RUN domain of Rab6-interacting protein 1/DENND5.
May couple Rab6 and Rab11 function throughout the cell cycle; R6IP1 overexpression alters the distribution of peripheral recycling endosomes.
Title: Rab6-interacting protein 1 links Rab6 and Rab11 function.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW496491 (e-PCR)
- UniSTS:179623

NoName (e-PCR)
- UniSTS:224687

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables guanyl-nucleotide exchange factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde transport, endosome to Golgi	IEA Inferred from Electronic Annotation more info
involved_in retrograde transport, endosome to Golgi	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
part_of retromer complex	IEA Inferred from Electronic Annotation more info
part_of retromer complex	ISO Inferred from Sequence Orthology more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DENN domain-containing protein 5A

Names: DENN/MADD domain containing 5A; Rab6 interacting protein 1; rab6-interacting protein 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_001311139.1 → NP_001298068.1 DENN domain-containing protein 5A isoform 2

See identical proteins and their annotated locations for NP_001298068.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.

Source sequence(s)

AC140235, BC060230

Consensus CDS

CCDS80781.1

UniProtKB/TrEMBL

A0A0R4J1B6

Related

ENSMUSP00000102333.2, ENSMUST00000106722.2

Conserved Domains (6) summary

smart00801
Location:489 → 564

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

smart00593
Location:860 → 923

RUN; domain involved in Ras-like GTPase signaling

smart00800
Location:12 → 114

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

cd01757
Location:930 → 1038

PLAT_RAB6IP1; PLAT/LH2 domain present in RAB6 interacting protein 1 (Rab6IP1)_like family. PLAT/LH2 domains consists of an eight stranded beta-barrel. In RabIP1 this domain may participate in lipid-mediated modulation of Rab6IP1's function via it's generally proposed ...

pfam02141
Location:178 → 366

DENN; DENN (AEX-3) domain

cl02689
Location:1119 → 1257

RUN; RUN domain
NM_021494.1 → NP_067469.1 DENN domain-containing protein 5A isoform 1

See identical proteins and their annotated locations for NP_067469.1

Status: VALIDATED

Description

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

Source sequence(s)

BC060230

Consensus CDS

CCDS21741.1

UniProtKB/Swiss-Prot

Q62146, Q6PAL8, Q8C829, Q8VDF6, Q9QYZ2

Related

ENSMUSP00000079295.7, ENSMUST00000080437.13

Conserved Domains (6) summary

smart00801
Location:513 → 588

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

smart00593
Location:884 → 947

RUN; domain involved in Ras-like GTPase signaling

smart00800
Location:12 → 138

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

cd01757
Location:954 → 1062

PLAT_RAB6IP1; PLAT/LH2 domain present in RAB6 interacting protein 1 (Rab6IP1)_like family. PLAT/LH2 domains consists of an eight stranded beta-barrel. In RabIP1 this domain may participate in lipid-mediated modulation of Rab6IP1's function via it's generally proposed ...

pfam02141
Location:202 → 390

DENN; DENN (AEX-3) domain

cl02689
Location:1143 → 1281

RUN; RUN domain