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    DENND1B DENN domain containing 1B [ Homo sapiens (human) ]

    Gene ID: 163486, updated on 6-Aug-2017
    Official Symbol
    DENND1Bprovided by HGNC
    Official Full Name
    DENN domain containing 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:28404
    See related
    Ensembl:ENSG00000213047 MIM:613292; Vega:OTTHUMG00000035653
    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
    FAM31B; C1ORF18; C1orf218
    Summary
    Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
    Orthologs
    Location:
    1q31.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (197504748..197782138, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (197473878..197744623, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting accessory protein 2 pseudogene Neighboring gene crumbs 1, cell polarity complex component Neighboring gene mitochondrial ribosomal protein S21 pseudogene 3 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 32 Neighboring gene ribosomal protein L24 pseudogene 5 Neighboring gene family with sequence similarity 204 member B, pseudogene Neighboring gene chromosome 1 open reading frame 53 Neighboring gene LIM homeobox 9

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
    NHGRI GWA Catalog
    Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Variants of DENND1B associated with asthma in children.
    NHGRI GWA Catalog
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
      RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20054, FLJ21179, FLJ33888, MGC27044, MGC103810, DKFZp547O0715

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rab GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Rab guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rab guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    T cell receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    T-helper 2 cell cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endocytic recycling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane organization TAS
    Traceable Author Statement
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    DENN domain-containing protein 1B
    Names
    DENN/MADD domain containing 1B
    connecdenn 2
    family with sequence similarity 31, member B

    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_001195215.1NP_001182144.1  DENN domain-containing protein 1B isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AI692985, AK093982, AL139136, BC074735, BK006960, BP220095, DA495773
      Consensus CDS
      CCDS72997.1
      UniProtKB/Swiss-Prot
      Q6P3S1
      Related
      ENSP00000479816.1, ENST00000620048.5
      Conserved Domains (3) summary
      smart00801
      Location:323388
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:94291
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:989
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    2. NM_001195216.1NP_001182145.1  DENN domain-containing protein 1B isoform 4

      See identical proteins and their annotated locations for NP_001182145.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 3. The resulting isoform (4) has a distinct C-terminus and is shorter than isoform 3.
      Source sequence(s)
      BC063456, DA495773
      UniProtKB/Swiss-Prot
      Q6P3S1
    3. NM_001300858.1NP_001287787.1  DENN domain-containing protein 1B isoform 5

      See identical proteins and their annotated locations for NP_001287787.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains multiple differences at the 5' and 3' ends, compared to variant 3, including initiation of translation at an alternate start codon. The resulting isoform (5) has distinct N- and C-termini and is shorter than isoform 3.
      Source sequence(s)
      AL139136, BC022561, BC063877, DA495773
      Consensus CDS
      CCDS72996.1
      UniProtKB/Swiss-Prot
      Q6P3S1
      Related
      ENSP00000235453.4, OTTHUMP00000203406, ENST00000235453.8, OTTHUMT00000330169
      Conserved Domains (3) summary
      smart00801
      Location:293358
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:84261
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:1179
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    4. NM_144977.4NP_659414.2  DENN domain-containing protein 1B isoform 2

      See identical proteins and their annotated locations for NP_659414.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 3. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 3.
      Source sequence(s)
      AL139136, BC063877, DA495773
      Consensus CDS
      CCDS41452.2
      UniProtKB/Swiss-Prot
      Q6P3S1
      Related
      ENSP00000356366.3, OTTHUMP00000033672, ENST00000367396.7, OTTHUMT00000086539
      Conserved Domains (3) summary
      smart00801
      Location:323388
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:94291
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:989
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

    RNA

    1. NR_125340.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks three alternate internal exons, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI692985, AK091207, AK093982, AL139136, BC074735, BK006960, DA495773

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      197504748..197782138 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509248.2XP_011507550.1  DENN domain-containing protein 1B isoform X3

      Conserved Domains (3) summary
      smart00801
      Location:336401
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:107304
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:22102
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    2. XM_006711193.3XP_006711256.1  DENN domain-containing protein 1B isoform X4

      See identical proteins and their annotated locations for XP_006711256.1

      Conserved Domains (3) summary
      smart00801
      Location:313378
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:84281
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:1179
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    3. XM_017000470.1XP_016855959.1  DENN domain-containing protein 1B isoform X4

      Conserved Domains (3) summary
      smart00801
      Location:313378
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:84281
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:1179
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    4. XM_005244931.2XP_005244988.1  DENN domain-containing protein 1B isoform X5

      See identical proteins and their annotated locations for XP_005244988.1

      Conserved Domains (3) summary
      smart00801
      Location:303368
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:94271
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:989
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    5. XM_017000471.1XP_016855960.1  DENN domain-containing protein 1B isoform X6

      UniProtKB/TrEMBL
      A0A024R987
      Conserved Domains (3) summary
      smart00801
      Location:293358
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:84261
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:1179
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    6. XM_006711192.2XP_006711255.1  DENN domain-containing protein 1B isoform X4

      See identical proteins and their annotated locations for XP_006711255.1

      Conserved Domains (3) summary
      smart00801
      Location:313378
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:84281
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:1179
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    7. XM_011509249.2XP_011507551.1  DENN domain-containing protein 1B isoform X4

      See identical proteins and their annotated locations for XP_011507551.1

      Conserved Domains (3) summary
      smart00801
      Location:313378
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:84281
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:1179
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    8. XM_011509247.1XP_011507549.1  DENN domain-containing protein 1B isoform X2

      Conserved Domains (3) summary
      smart00801
      Location:351416
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:142319
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:57137
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    9. XM_011509246.2XP_011507548.1  DENN domain-containing protein 1B isoform X1

      Conserved Domains (3) summary
      smart00801
      Location:371436
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:142339
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:57137
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    10. XM_017000472.1XP_016855961.1  DENN domain-containing protein 1B isoform X7

      Related
      OTTHUMP00000033670, OTTHUMT00000086537
      Conserved Domains (1) summary
      smart00801
      Location:39104
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    11. XM_006711194.3XP_006711257.1  DENN domain-containing protein 1B isoform X8

      Conserved Domains (1) summary
      smart00801
      Location:1782
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    12. XM_011509251.2XP_011507553.1  DENN domain-containing protein 1B isoform X9

      Conserved Domains (3) summary
      smart00801
      Location:371434
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00799
      Location:142339
      DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
      smart00800
      Location:57137
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      198896297..199166967 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001142795.1: Suppressed sequence

      Description
      NM_001142795.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_019049.1: Suppressed sequence

      Description
      NM_019049.1: This RefSeq was suppressed because the CDS was partial.
    Support Center