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DENND10 DENN domain containing 10 [ Homo sapiens (human) ]

Gene ID: 404636, updated on 2-Nov-2024

Summary

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Official Symbol
DENND10provided by HGNC
Official Full Name
DENN domain containing 10provided by HGNC
Primary source
HGNC:HGNC:31793
See related
Ensembl:ENSG00000119979 AllianceGenome:HGNC:31793
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM45A
Summary
Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in endosome transport via multivesicular body sorting pathway; protein transport; and regulation of early endosome to late endosome transport. Located in late endosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 10.5), esophagus (RPKM 8.9) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See DENND10 in Genome Data Viewer
Location:
10q26.11
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (119104113..119137984)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (119999563..120033391)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (120863625..120897496)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 3 subunit A Neighboring gene small nucleolar RNA SNORA19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:120826117-120826618 Neighboring gene small nucleolar RNA, H/ACA box 19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2867 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:120840059-120840821 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:120852323-120852823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:120865335-120865834 Neighboring gene Sharpr-MPRA regulatory region 2644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:120901959-120902460 Neighboring gene sideroflexin 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:120924677-120924863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2869 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:120937203-120937847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4104 Neighboring gene peroxiredoxin 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ55853

Gene Ontology Provided by GOA

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 IDA
Inferred from Direct Assay
more info
 PubMed 
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 IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endosome transport via multivesicular body sorting pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of early endosome to late endosome transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of early endosome to late endosome transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in late endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in late endosome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
DENN domain-containing protein 10
Names
family with sequence similarity 45 member A
protein FAM45A

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)

  1. NM_001303111.2 → NP_001290040.1  DENN domain-containing protein 10 isoform 2

    See identical proteins and their annotated locations for NP_001290040.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon and uses an alternate splice site in the 5' region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK293136, AL355598, BC022271, DA531569
    UniProtKB/Swiss-Prot
    Q5H9G7, Q6NSW5, Q9NZ36
    Conserved Domains (1) summary
    pfam08616
    Location:150 → 256
    SPA; Stabilization of polarity axis

  2. NM_001303112.2 → NP_001290041.1  DENN domain-containing protein 10 isoform 3

    See identical proteins and their annotated locations for NP_001290041.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites in the 5' region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK297971, AL355598, BC022271, DA531569
    UniProtKB/TrEMBL
    B4DNL9
    Conserved Domains (1) summary
    pfam08616
    Location:85 → 191
    SPA; Stabilization of polarity axis

  3. NM_001303113.2 → NP_001290042.1  DENN domain-containing protein 10 isoform 4

    See identical proteins and their annotated locations for NP_001290042.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site and lacks an exon in the 5' region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK297633, AL355598, BC022271, DA531569
    UniProtKB/TrEMBL
    B4DMU4
    Conserved Domains (1) summary
    pfam08616
    Location:9 → 113
    SPA; Stabilization of polarity axis

  4. NM_207009.4 → NP_996892.1  DENN domain-containing protein 10 isoform 1

    See identical proteins and their annotated locations for NP_996892.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL355598, BC022271, DA531569
    Consensus CDS
    CCDS7609.1
    UniProtKB/Swiss-Prot
    B1AMV6, B4DDC3, D3DRC8, Q5H9G7, Q6NSW5, Q8TCE6, Q9NXW4, Q9NZ36
    Related
    ENSP00000354688.2, ENST00000361432.3
    Conserved Domains (1) summary
    pfam08616
    Location:158 → 264
    SPA; Stabilization of polarity axis

RNA

  1. NR_130122.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK293365, AL355598, BC022271

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    119104113..119137984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717849.5 → XP_006717912.1  DENN domain-containing protein 10 isoform X3

    See identical proteins and their annotated locations for XP_006717912.1

    UniProtKB/TrEMBL
    A0A3B3IRE4
    Conserved Domains (1) summary
    pfam08616
    Location:47 → 153
    SPA; Stabilization of polarity axis

  2. XM_017016264.3 → XP_016871753.1  DENN domain-containing protein 10 isoform X2

    UniProtKB/Swiss-Prot
    Q5H9G7, Q6NSW5, Q9NZ36
    Conserved Domains (1) summary
    pfam08616
    Location:158 → 264
    SPA; Stabilization of polarity axis

  3. XM_047425250.1 → XP_047281206.1  DENN domain-containing protein 10 isoform X3

    UniProtKB/TrEMBL
    A0A3B3IRE4

  4. XM_047425251.1 → XP_047281207.1  DENN domain-containing protein 10 isoform X3

    UniProtKB/TrEMBL
    A0A3B3IRE4

  5. XM_047425249.1 → XP_047281205.1  DENN domain-containing protein 10 isoform X1

  6. XM_047425252.1 → XP_047281208.1  DENN domain-containing protein 10 isoform X3

    UniProtKB/TrEMBL
    A0A3B3IRE4
    Related
    ENSP00000496780.1, ENST00000648560.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    119999563..120033391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365945.1 → XP_054221920.1  DENN domain-containing protein 10 isoform X3

    UniProtKB/TrEMBL
    A0A3B3IRE4

  2. XM_054365944.1 → XP_054221919.1  DENN domain-containing protein 10 isoform X2

  3. XM_054365946.1 → XP_054221921.1  DENN domain-containing protein 10 isoform X3

    UniProtKB/TrEMBL
    A0A3B3IRE4

  4. XM_054365947.1 → XP_054221922.1  DENN domain-containing protein 10 isoform X3

    UniProtKB/TrEMBL
    A0A3B3IRE4

  5. XM_054365943.1 → XP_054221918.1  DENN domain-containing protein 10 isoform X1

  6. XM_054365948.1 → XP_054221923.1  DENN domain-containing protein 10 isoform X3

    UniProtKB/TrEMBL
    A0A3B3IRE4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TCE6.1 GenPept UniProtKB/Swiss-Prot:Q8TCE6

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