MCF2L
Guanine nucleotide exchange factor DBS
Also known as: ARHGEF14, DBS, KIAA0362, MCF2L_HUMAN, OST
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O15068
- Gene
- MCF2L
- Ensembl
- ENSG00000126217
- Chromosome
- 13
- Canonical length
- 1137 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Canonical amino-acid sequenceUniProt
1137 residues, UniProt reviewed canonical sequence.
>O15068|MCF2L
1 MFDCWRFILC KRPGSNSYSS PQRPNEAKKE ETDHQIDVSD VIRLVQDTPE ATAMATDEIM
61 HQDIVPLCAA DIQDQLKKRF AYLSGGRGQD GSPVITFPDY PAFSEIPDKE FQNVMTYLTS
121 IPSLQDAGIG FILVIDRRRD KWTSVKASVL RIAASFPANL QLVLVLRPTG FFQRTLSDIA
181 FKFNRDDFKM KVPVIMLSSV PDLHGYIDKS QLTEDLGGTL DYCHSRWLCQ RTAIESFALM
241 VKQTAQMLQS FGTELAETEL PNDVQSTSSV LCAHTEKKDK AKEDLRLALK EGHSVLESLR
301 ELQAEGSEPS VNQDQLDNQA TVQRLLAQLN ETEAAFDEFW AKHQQKLEQC LQLRHFEQGF
361 REVKAILDAA SQKIATFTDI GNSLAHVEHL LRDLASFEEK SGVAVERARA LSLDGEQLIG
421 NKHYAVDSIR PKCQELRHLC DQFSAEIARR RGLLSKSLEL HRRLETSMKW CDEGIYLLAS
481 QPVDKCQSQD GAEAALQEIE KFLETGAENK IQELNAIYKE YESILNQDLM EHVRKVFQKQ
541 ASMEEVFHRR QASLKKLAAR QTRPVQPVAP RPEALAKSPC PSPGIRRGSE NSSSEGGALR
601 RGPYRRAKSE MSESRQGRGS AGEEEESLAI LRRHVMSELL DTERAYVEEL LCVLEGYAAE
661 MDNPLMAHLL STGLHNKKDV LFGNMEEIYH FHNRIFLREL ENYTDCPELV GRCFLERMED
721 FQIYEKYCQN KPRSESLWRQ CSDCPFFQEC QRKLDHKLSL DSYLLKPVQR ITKYQLLLKE
781 MLKYSRNCEG AEDLQEALSS ILGILKAVND SMHLIAITGY DGNLGDLGKL LMQGSFSVWT
841 DHKRGHTKVK ELARFKPMQR HLFLHEKAVL FCKKREENGE GYEKAPSYSY KQSLNMAAVG
901 ITENVKGDAK KFEIWYNARE EVYIVQAPTP EIKAAWVNEI RKVLTSQLQA CREASQHRAL
961 EQSQSLPLPA PTSTSPSRGN SRNIKKLEER KTDPLSLEGY VSSAPLTKPP EKGKGWSKTS
1021 HSLEAPEDDG GWSSAEEQIN SSDAEEDGGL GPKKLVPGKY TVVADHEKGG PDALRVRSGD
1081 VVELVQEGDE GLWYVRDPTT GKEGWVPASS LSVRLGPSGS AQCLSSSGKA HVPRAHPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MCF2L 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 158 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 158 nTPM
- cerebral cortex: 73 nTPM
- heart muscle: 51 nTPM
- pituitary gland: 43 nTPM
- adipose tissue: 42 nTPM
- breast: 39 nTPM
Single-cell type
- cone photoreceptor cells: 499 nCPM
- proximal tubule cells: 383 nCPM
- microglia: 377 nCPM
- somatotrophs: 278 nCPM
- lactotrophs: 254 nCPM
- gonadotrophs: 251 nCPM
Immune cell
- naive B-cell: 0.4 nTPM
- naive CD4 T-cell: 0.4 nTPM
- total PBMC: 0.4 nTPM
- neutrophil: 0.3 nTPM
- gdT-cell: 0.1 nTPM
- MAIT T-cell: 0.1 nTPM
Brain region
- cerebellum: 339 nTPM
- cerebral cortex: 214 nTPM
- pons: 190 nTPM
- medulla oblongata: 178 nTPM
- thalamus: 176 nTPM
- white matter: 158 nTPM
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)
- 0.5
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.85
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- intracellular signal transduction
- positive regulation of Rho protein signal transduction
- regulation of small GTPase mediated signal transduction
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Dbl homology domain
- CRAL-TRIO lipid binding domain
- Guanine-nucleotide dissociation stimulator, CDC24, conserved site
- SH3 domain
- Pleckstrin homology domain
- Spectrin repeat
- PH-like domain superfamily
- Spectrin/alpha-actinin
- Dbl homology (DH) domain superfamily
- SH3-like domain superfamily
- CRAL-TRIO lipid binding domain superfamily
- Rho GTPase-activating Guanine Nucleotide Exchange Factors
- SOS1/NGEF-like, PH domain
- Guanine nucleotide exchange factor DBS-like, spectrin-like
- Spectrin repeat
- RhoGEF domain
- Variant SH3 domain
- Divergent CRAL/TRIO domain
- SOS1/NGEF-like PH domain
- Guanine nucleotide exchange factor DBS-like, spectrin-like
- DBS, SH3 domain
- DBS, PH domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MCF2L 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 MCF2L as an antibody target. Whether an autoantibody or antibody against MCF2L could matter depends on whether native MCF2L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MCF2L is annotated at the cell surface, where native MCF2L is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label MCF2L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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