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DENND4B DENN domain containing 4B [ Homo sapiens (human) ]

Gene ID: 9909, updated on 13-May-2022

Summary

Official Symbol
DENND4Bprovided by HGNC
Official Full Name
DENN domain containing 4Bprovided by HGNC
Primary source
HGNC:HGNC:29044
See related
Ensembl:ENSG00000198837 MIM:619843; AllianceGenome:HGNC:29044
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
KIAA0476
Summary
Enables guanyl-nucleotide exchange factor activity. Involved in regulation of Rab protein signal transduction. Located in Golgi apparatus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 20.1), lymph node (RPKM 17.2) and 25 other tissues See more
Orthologs
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Genomic context

See DENND4B in Genome Data Viewer
Location:
1q21.3
Exon count:
30
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (153929501..153946894, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153066762..153083979, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153901977..153919194, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GATA zinc finger domain containing 2B Neighboring gene Sharpr-MPRA regulatory region 2699 Neighboring gene uncharacterized LOC101928059 Neighboring gene Sharpr-MPRA regulatory region 4321 Neighboring gene CREB regulated transcription coactivator 2 Neighboring gene solute carrier family 39 member 1 Neighboring gene microRNA 6737

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26202, DKFZp762N174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in regulation of Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of Rab protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
DENN domain-containing protein 4B
Names
DENN/MADD domain containing 4B

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_001367466.1NP_001354395.1  DENN domain-containing protein 4B isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL358472
  2. NM_014856.3NP_055671.2  DENN domain-containing protein 4B isoform 1

    See identical proteins and their annotated locations for NP_055671.2

    Status: VALIDATED

    Source sequence(s)
    AB007945, AL358472
    Consensus CDS
    CCDS44228.1
    UniProtKB/Swiss-Prot
    O75064
    Related
    ENSP00000354597.4, ENST00000361217.9
    Conserved Domains (5) summary
    smart00801
    Location:563636
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:191279
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:813842
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:313497
    DENN; DENN (AEX-3) domain
    pfam13041
    Location:811851
    PPR_2; PPR repeat family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    153929501..153946894 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435925.1XP_047291881.1  DENN domain-containing protein 4B isoform X7

  2. XM_047435915.1XP_047291871.1  DENN domain-containing protein 4B isoform X2

  3. XM_011510219.2XP_011508521.2  DENN domain-containing protein 4B isoform X6

  4. XM_047435916.1XP_047291872.1  DENN domain-containing protein 4B isoform X3

  5. XM_047435912.1XP_047291868.1  DENN domain-containing protein 4B isoform X1

  6. XM_047435943.1XP_047291899.1  DENN domain-containing protein 4B isoform X5

  7. XM_047435921.1XP_047291877.1  DENN domain-containing protein 4B isoform X5

  8. XM_047435936.1XP_047291892.1  DENN domain-containing protein 4B isoform X10

  9. XM_047435917.1XP_047291873.1  DENN domain-containing protein 4B isoform X4

  10. XM_011510221.4XP_011508523.1  DENN domain-containing protein 4B isoform X13

    Conserved Domains (4) summary
    smart00801
    Location:361434
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:611640
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:165295
    DENN; DENN (AEX-3) domain
    pfam13041
    Location:609649
    PPR_2; PPR repeat family
  11. XM_047435944.1XP_047291900.1  DENN domain-containing protein 4B isoform X11

  12. XM_011510220.3XP_011508522.1  DENN domain-containing protein 4B isoform X12

    See identical proteins and their annotated locations for XP_011508522.1

    Conserved Domains (4) summary
    smart00801
    Location:458531
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    sd00004
    Location:708737
    PPR; PPR repeat [structural motif]
    pfam02141
    Location:208392
    DENN; DENN (AEX-3) domain
    pfam13041
    Location:706746
    PPR_2; PPR repeat family
  13. XM_047435933.1XP_047291889.1  DENN domain-containing protein 4B isoform X9

  14. XM_047435930.1XP_047291886.1  DENN domain-containing protein 4B isoform X8

    Related
    ENSP00000357635.2, ENST00000368646.6
  15. XM_011510222.2XP_011508524.2  DENN domain-containing protein 4B isoform X14

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    153066762..153083979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)