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DENND1C DENN domain containing 1C [ Homo sapiens (human) ]

Gene ID: 79958, updated on 25-Jan-2022

Summary

Official Symbol
DENND1Cprovided by HGNC
Official Full Name
DENN domain containing 1Cprovided by HGNC
Primary source
HGNC:HGNC:26225
See related
Ensembl:ENSG00000205744 MIM:613634; AllianceGenome:HGNC:26225
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM31C
Summary
The protein encoded by this gene functions as a guanine nucleotide exchange factor for the early endosomal small GTPase RAB35, which regulates endosomal membrane trafficking and is involved in actin polymerization. The encoded protein activates RAB35 by promoting the exchange of RAB35-bound GDP for GTP. This gene may play a role in linking RAB35 activation with the clathrin machinery. [provided by RefSeq, May 2017]
Expression
Broad expression in lymph node (RPKM 22.3), spleen (RPKM 19.6) and 19 other tissues See more
Orthologs
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Genomic context

See DENND1C in Genome Data Viewer
Location:
19p13.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (6467204..6481798, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6467218..6481798, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene KH-type splicing regulatory protein Neighboring gene microRNA 3940 Neighboring gene solute carrier family 25 member 41 Neighboring gene solute carrier family 25 member 23 Neighboring gene crumbs cell polarity complex component 3 Neighboring gene Sharpr-MPRA regulatory region 5032 Neighboring gene tubulin beta 4A class IVa

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 study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22757

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in endocytic recycling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
 
located_in clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
DENN domain-containing protein 1C
Names
DENN/MADD domain containing 1C
connecdenn 3
family with sequence similarity 31, member C

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.

Genomic

  1. NG_054762.1 RefSeqGene

    Range
    5022..19602
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290331.2NP_001277260.1  DENN domain-containing protein 1C isoform 2

    See identical proteins and their annotated locations for NP_001277260.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK303226, BC033437, BE674790
    Consensus CDS
    CCDS77225.1
    UniProtKB/Swiss-Prot
    Q8IV53
    Related
    ENSP00000437805.1, ENST00000543576.5
    Conserved Domains (3) summary
    smart00801
    Location:281347
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:49249
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:143
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  2. NM_024898.4NP_079174.2  DENN domain-containing protein 1C isoform 1

    See identical proteins and their annotated locations for NP_079174.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC033437, BE674790, DC378383
    Consensus CDS
    CCDS45938.1
    UniProtKB/Swiss-Prot
    Q8IV53
    Related
    ENSP00000370889.1, ENST00000381480.7
    Conserved Domains (3) summary
    smart00801
    Location:325391
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:93293
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:1387
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    6467204..6481798 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722906.3XP_006722969.1  DENN domain-containing protein 1C isoform X3

    See identical proteins and their annotated locations for XP_006722969.1

    UniProtKB/Swiss-Prot
    Q8IV53
    Conserved Domains (3) summary
    smart00801
    Location:281347
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:49249
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:143
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  2. XM_011528318.2XP_011526620.1  DENN domain-containing protein 1C isoform X3

    See identical proteins and their annotated locations for XP_011526620.1

    UniProtKB/Swiss-Prot
    Q8IV53
    Conserved Domains (3) summary
    smart00801
    Location:281347
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:49249
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:143
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  3. XM_024451727.1XP_024307495.1  DENN domain-containing protein 1C isoform X1

    Conserved Domains (4) summary
    smart00801
    Location:462528
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:230430
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:150224
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    pfam11702
    Location:748930
    DUF3295; Protein of unknown function (DUF3295)
  4. XM_006722905.3XP_006722968.3  DENN domain-containing protein 1C isoform X2

    Conserved Domains (4) summary
    smart00799
    Location:230430
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:150224
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    pfam03455
    Location:452503
    dDENN; dDENN domain
    pfam11702
    Location:706888
    DUF3295; Protein of unknown function (DUF3295)
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