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DENND1A DENN domain containing 1A [ Homo sapiens (human) ]

Gene ID: 57706, updated on 24-Nov-2020

Summary

Official Symbol
DENND1Aprovided by HGNC
Official Full Name
DENN domain containing 1Aprovided by HGNC
Primary source
HGNC:HGNC:29324
See related
Ensembl:ENSG00000119522 MIM:613633
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
FAM31A; KIAA1608
Summary
Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, 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]
Expression
Ubiquitous expression in spleen (RPKM 4.6), kidney (RPKM 4.6) and 25 other tissues See more
Orthologs

Genomic context

See DENND1A in Genome Data Viewer
Location:
9q33.3
Exon count:
30
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (123379658..123930158, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (126141933..126692423, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene MIR600 host gene Neighboring gene microRNA 600 Neighboring gene spermatid perinuclear RNA binding protein Neighboring gene uncharacterized LOC105376265 Neighboring gene crumbs cell polarity complex component 2 Neighboring gene microRNA 601 Neighboring gene microRNA 7150 Neighboring gene uncharacterized LOC105376266 Neighboring gene VISTA enhancer hs314 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class F pseudogene 2 Neighboring gene uncharacterized LOC105376267 Neighboring gene uncharacterized LOC100505588

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
GeneReviews: Not available
A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.
GeneReviews: Not available
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
GeneReviews: Not available
Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
GeneReviews: Not available
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
GeneReviews: Not available
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
GeneReviews: Not available
Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38464

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol phosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol-3-phosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
endocytic recycling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endocytic recycling ISS
Inferred from Sequence or Structural Similarity
more info
 
endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of Rab protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
clathrin-coated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-coated vesicle IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-coated vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
DENN domain-containing protein 1A
Names
DENN/MADD domain containing 1A
connecdenn 1

NCBI Reference Sequences (RefSeq)

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_001352964.2NP_001339893.1  DENN domain-containing protein 1A isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC006450, AL161790, AL390774, AL445489
    Conserved Domains (4) summary
    smart00801
    Location:305371
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:95273
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:991
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    cl26464
    Location:7051056
    Atrophin-1; Atrophin-1 family
  2. NM_001352965.2NP_001339894.1  DENN domain-containing protein 1A isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC006450, AL161790, AL390774, AL445489
    Conserved Domains (4) summary
    smart00801
    Location:273339
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:63241
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:1059
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    cl26464
    Location:6551006
    Atrophin-1; Atrophin-1 family
  3. NM_001352966.2NP_001339895.1  DENN domain-containing protein 1A isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC006450, AL161790, AL390774, AL445489
    Conserved Domains (3) summary
    smart00801
    Location:275341
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:65243
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:1461
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  4. NM_001352967.2NP_001339896.1  DENN domain-containing protein 1A isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC006450, AL161790, AL390774, AL445489
    Related
    ENSP00000377763.3, ENST00000394215.6
    Conserved Domains (3) summary
    smart00801
    Location:273339
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:63241
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:2659
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  5. NM_001352968.2NP_001339897.1  DENN domain-containing protein 1A isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC006450, AL161790, AL390774, AL445489
    Consensus CDS
    CCDS87687.1
    Related
    ENSP00000362720.1, ENST00000373618.1
    Conserved Domains (3) summary
    smart00801
    Location:273339
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:63241
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:2659
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  6. NM_020946.2NP_065997.1  DENN domain-containing protein 1A isoform 1

    See identical proteins and their annotated locations for NP_065997.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC006450, AL161790, AL390774, AL445489
    Consensus CDS
    CCDS35133.1
    UniProtKB/Swiss-Prot
    Q8TEH3
    UniProtKB/TrEMBL
    Q9HCG4
    Related
    ENSP00000362727.2, ENST00000373624.6
    Conserved Domains (3) summary
    smart00801
    Location:305371
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:95273
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:991
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  7. NM_024820.3NP_079096.2  DENN domain-containing protein 1A isoform 2

    See identical proteins and their annotated locations for NP_079096.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1, that causes a frameshift. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL445489, BC009616, BC028061, BC039703
    Consensus CDS
    CCDS35134.1
    UniProtKB/Swiss-Prot
    Q8TEH3
    Related
    ENSP00000362722.3, ENST00000373620.7
    Conserved Domains (3) summary
    smart00801
    Location:305371
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:95273
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:991
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

RNA

  1. NR_148208.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006450, AL161790, AL390774, AL445489

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    123379658..123930158 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014952.2XP_016870441.1  DENN domain-containing protein 1A isoform X14

  2. XM_024447622.1XP_024303390.1  DENN domain-containing protein 1A isoform X12

    Conserved Domains (4) summary
    smart00801
    Location:275341
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:65243
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:1461
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    cl26464
    Location:6751026
    Atrophin-1; Atrophin-1 family
  3. XM_024447621.1XP_024303389.1  DENN domain-containing protein 1A isoform X8

    Conserved Domains (4) summary
    smart00801
    Location:273339
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:63241
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:2659
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    cl26464
    Location:6731024
    Atrophin-1; Atrophin-1 family
  4. XM_017014949.2XP_016870438.1  DENN domain-containing protein 1A isoform X6

  5. XM_011518883.3XP_011517185.1  DENN domain-containing protein 1A isoform X3

    Conserved Domains (3) summary
    smart00801
    Location:320386
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:110288
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:24106
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  6. XM_017014950.2XP_016870439.1  DENN domain-containing protein 1A isoform X9

  7. XM_011518882.3XP_011517184.1  DENN domain-containing protein 1A isoform X1

    Conserved Domains (3) summary
    smart00801
    Location:320386
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:110288
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:24106
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  8. XM_011518886.3XP_011517188.1  DENN domain-containing protein 1A isoform X7

    Conserved Domains (3) summary
    smart00801
    Location:320386
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:110288
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:24106
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  9. XM_011518885.3XP_011517187.1  DENN domain-containing protein 1A isoform X5

    Conserved Domains (3) summary
    smart00801
    Location:284350
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:74252
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:970
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  10. XM_024447623.1XP_024303391.1  DENN domain-containing protein 1A isoform X13

    Conserved Domains (3) summary
    smart00801
    Location:109175
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:477
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    cl26464
    Location:509860
    Atrophin-1; Atrophin-1 family
  11. XM_017014948.2XP_016870437.1  DENN domain-containing protein 1A isoform X4

    Related
    ENST00000473039.5
    Conserved Domains (3) summary
    smart00801
    Location:305371
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:95273
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:991
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  12. XM_006717195.4XP_006717258.1  DENN domain-containing protein 1A isoform X2

    Conserved Domains (3) summary
    smart00801
    Location:320386
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:110288
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:24106
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  13. XM_005252111.4XP_005252168.1  DENN domain-containing protein 1A isoform X10

    Conserved Domains (3) summary
    smart00801
    Location:320386
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:110288
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:24106
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  14. XM_017014951.2XP_016870440.1  DENN domain-containing protein 1A isoform X11

  15. XM_011518887.3XP_011517189.1  DENN domain-containing protein 1A isoform X15

    Conserved Domains (3) summary
    smart00801
    Location:320386
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:110288
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:24106
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  16. XM_005252113.5XP_005252170.1  DENN domain-containing protein 1A isoform X16

    Conserved Domains (3) summary
    smart00801
    Location:320386
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:110288
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:24106
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
  17. XM_024447624.1XP_024303392.1  DENN domain-containing protein 1A isoform X17

    Conserved Domains (3) summary
    smart00801
    Location:320386
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00799
    Location:110288
    DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN
    smart00800
    Location:24106
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

RNA

  1. XR_929830.3 RNA Sequence

  2. XR_929829.2 RNA Sequence

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