DENND1B
DENN domain-containing protein 1B
Also known as: C1orf218, DEN1B_HUMAN, FAM31B, FLJ20054, MGC27044
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6P3S1
- Gene
- DENND1B
- Ensembl
- ENSG00000213047
- Chromosome
- 1
- Canonical length
- 775 aa
- Protein class
- Disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nuclear speckles,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
775 residues, UniProt reviewed canonical sequence.
>Q6P3S1|DENND1B
1 MDCRTKANPD RTFDLVLKVK CHASENEDPV VLWKFPEDFG DQEILQSVPK FCFPFDVERV
61 SQNQVGQHFT FVLTDIESKQ RFGFCRLTSG GTICLCILSY LPWFEVYYKL LNTLADYLAK
121 ELENDLNETL RSLYNHPVPK ANTPVNLSVN QEIFIACEQV LKDQPALVPH SYFIAPDVTG
181 LPTIPESRNL TEYFVAVDVN NMLQLYASML HERRIVIISS KLSTLTACIH GSAALLYPMY
241 WQHIYIPVLP PHLLDYCCAP MPYLIGIHSS LIERVKNKSL EDVVMLNVDT NTLESPFSDL
301 NNLPSDVVSA LKNKLKKQST ATGDGVARAF LRAQAALFGS YRDALRYKPG EPITFCEESF
361 VKHRSSVMKQ FLETAINLQL FKQFIDGRLA KLNAGRGFSD VFEEEITSGG FCGGNPRSYQ
421 QWVHTVKKGG ALFNTAMTKA TPAVRTAYKF AKNHAKLGLK EVKSKLKHKE NEEDYGTCSS
481 SVQYTPVYKL HNEKGGNSEK RKLAQARLKR PLKSLDGALY DDEDDDDIER ASKLSSEDGE
541 EASAYLYESD DSVETRVKTP YSGEMDLLGE ILDTLSTHSS DQGKLAAAKS LDFFRSMDDI
601 DYKPTNKSNA PSENNLAFLC GGSGDQAEWN LGQDDSALHG KHLPPSPRKR VSSSGLTDSL
661 FILKEENSNK HLGADNVSDP TSGLDFQLTS PEVSQTDKGK TEKRETLSQI SDDLLIPGLG
721 RHSSTFVPWE KEGKEAKETS EDIGLLHEVV SLCHMTSDFQ QSLNISDKNT NGNQTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DENND1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 6.5 nTPM
Expression across tissuesHPA
Tissue
- small intestine: 6.5 nTPM
- thymus: 6.2 nTPM
- tonsil: 6.1 nTPM
- lymph node: 6 nTPM
- colon: 5.6 nTPM
- thyroid gland: 5.6 nTPM
Single-cell type
- ocular epithelial cells: 540 nCPM
- neutrophil progenitors: 366 nCPM
- cdc: 345 nCPM
- plasma cells: 301 nCPM
- prostatic hillock cells: 280 nCPM
- enterocytes: 274 nCPM
Immune cell
- NK-cell: 2.7 nTPM
- basophil: 2.3 nTPM
- T-reg: 1.8 nTPM
- memory CD8 T-cell: 1.4 nTPM
- memory B-cell: 1.2 nTPM
- eosinophil: 1.1 nTPM
Brain region
- basal ganglia: 25 nTPM
- midbrain: 19 nTPM
- thalamus: 17 nTPM
- hypothalamus: 17 nTPM
- cerebellum: 16 nTPM
- pons: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DENND1B.
Disease | AllUniProt
Conditions DENND1B is implicated in, by any mechanism.
- Asthma (ASTHMA) MIM:600807
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.49
- gnomAD pLI
- 0.2
- gnomAD missense Z
- 0.33
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endocytic recycling
- endocytosis
- positive regulation of T-helper 2 cell cytokine production
- protein transport
- regulation of immune response
- T cell receptor signaling pathway
Molecular functions
- guanyl-nucleotide exchange factor activity
- phosphatidylinositol phosphate binding
- small GTPase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DENND1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DENND1B as an antibody target. Whether an autoantibody or antibody against DENND1B could matter depends on whether native DENND1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DENND1B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DENND1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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