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dennd5a DENN/MADD domain containing 5A [ Danio rerio (zebrafish) ]

Gene ID: 799847, updated on 14-Nov-2024

Summary

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Official Symbol
dennd5aprovided by ZNC
Official Full Name
DENN/MADD domain containing 5Aprovided by ZNC
Primary source
ZFIN:ZDB-GENE-071211-1
See related
Ensembl:ENSDARG00000017006 AllianceGenome:ZFIN:ZDB-GENE-071211-1
Gene type
protein coding
RefSeq status
MODEL
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
rab6ip1
Summary
Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Acts upstream of or within early stripe melanocyte differentiation. Predicted to be located in membrane. Predicted to be active in trans-Golgi network. 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]
Orthologs
human mouse all
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Genomic context

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See dennd5a in Genome Data Viewer
Location:
chromosome: 7
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 7 NC_007118.7 (64974517..65093165, complement)
105 previous assembly GRCz10 (GCF_000002035.5) 7 NC_007118.6 (64752555..64869158, complement)

Chromosome 7 - NC_007118.7Genomic Context describing neighboring genes Neighboring gene adhesion G protein-coupled receptor G3 Neighboring gene SIN3-HDAC complex associated factor, like Neighboring gene transmembrane protein 41B Neighboring gene small nucleolar RNA SNORA23 Neighboring gene importin 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma. Yang M, et al. Genet Med, 2022 Jan. PMID 34906508, Free PMC Article
  2. Identification and Expression Analysis of the Complete Family of Zebrafish pkd Genes. England SJ, et al. Front Cell Dev Biol, 2017. PMID 28271061, Free PMC Article
  3. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within early stripe melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
DENN domain-containing protein 5A
Names
rab6 interacting protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007118.7 Reference GRCz11 Primary Assembly

    Range
    64974517..65093165 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005166611.5 → XP_005166668.1  DENN domain-containing protein 5A isoform X4

    UniProtKB/TrEMBL
    A0A2R8QFR0, A0A8M2BE62
    Related
    ENSDARP00000153842.1, ENSDART00000192447.1
    Conserved Domains (5) summary
    smart00801
    Location:490 → 565
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:9 → 110
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    cd01757
    Location:932 → 1040
    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:180 → 368
    DENN; DENN (AEX-3) domain
    cl02689
    Location:772 → 925
    RUN; RUN domain

  2. XM_009303572.4 → XP_009301847.1  DENN domain-containing protein 5A isoform X2

    UniProtKB/TrEMBL
    A0A8M3AUQ3
    Conserved Domains (5) summary
    smart00801
    Location:490 → 565
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:9 → 110
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    cd01757
    Location:967 → 1075
    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:180 → 368
    DENN; DENN (AEX-3) domain
    cl02689
    Location:807 → 960
    RUN; RUN domain

  3. XM_001340126.9 → XP_001340162.4  DENN domain-containing protein 5A isoform X3

    UniProtKB/TrEMBL
    A0A8M1Q7I4, E7F1J4
    Related
    ENSDARP00000060544.5, ENSDART00000060545.7
    Conserved Domains (5) summary
    smart00801
    Location:514 → 589
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:9 → 134
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    cd01757
    Location:956 → 1064
    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:204 → 392
    DENN; DENN (AEX-3) domain
    cl02689
    Location:796 → 949
    RUN; RUN domain

  4. XM_009303571.4 → XP_009301846.1  DENN domain-containing protein 5A isoform X1

    UniProtKB/TrEMBL
    A0A8M3B1L1
    Conserved Domains (5) summary
    smart00801
    Location:514 → 589
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:9 → 134
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    cd01757
    Location:991 → 1099
    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:204 → 392
    DENN; DENN (AEX-3) domain
    cl02689
    Location:831 → 984
    RUN; RUN domain
Nucleotide Protein Strain
Heading Accession and Version

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