MKLN1
Muskelin
Also known as: MKLN1_HUMAN, TWA2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UL63
- Gene
- MKLN1
- Ensembl
- ENSG00000128585
- Chromosome
- 7
- Canonical length
- 735 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Vesicles,Plasma membrane,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
735 residues, UniProt reviewed canonical sequence.
>Q9UL63|MKLN1
1 MAAGGAVAAA PECRLLPYAL HKWSSFSSTY LPENILVDKP NDQSSRWSSE SNYPPQYLIL
61 KLERPAIVQN ITFGKYEKTH VCNLKKFKVF GGMNEENMTE LLSSGLKNDY NKETFTLKHK
121 IDEQMFPCRF IKIVPLLSWG PSFNFSIWYV ELSGIDDPDI VQPCLNWYSK YREQEAIRLC
181 LKHFRQHNYT EAFESLQKKT KIALEHPMLT DIHDKLVLKG DFDACEELIE KAVNDGLFNQ
241 YISQQEYKPR WSQIIPKSTK GDGEDNRPGM RGGHQMVIDV QTETVYLFGG WDGTQDLADF
301 WAYSVKENQW TCISRDTEKE NGPSARSCHK MCIDIQRRQI YTLGRYLDSS VRNSKSLKSD
361 FYRYDIDTNT WMLLSEDTAA DGGPKLVFDH QMCMDSEKHM IYTFGGRILT CNGSVDDSRA
421 SEPQFSGLFA FNCQCQTWKL LREDSCNAGP EDIQSRIGHC MLFHSKNRCL YVFGGQRSKT
481 YLNDFFSYDV DSDHVDIISD GTKKDSGMVP MTGFTQRATI DPELNEIHVL SGLSKDKEKR
541 EENVRNSFWI YDIVRNSWSC VYKNDQAAKD NPTKSLQEEE PCPRFAHQLV YDELHKVHYL
601 FGGNPGKSCS PKMRLDDFWS LKLCRPSKDY LLRHCKYLIR KHRFEEKAQV DPLSALKYLQ
661 NDLYITVDHS DPEETKEFQL LASALFKSGS DFTALGFSDV DHTYAQRTQL FDTLVNFFPD
721 SMTPPKGNLV DLITLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MKLN1 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)
- 0.27
- Highest tissue expression
- 20 nTPM
Expression across tissuesHPA
Tissue
- retina: 20 nTPM
- prostate: 15 nTPM
- liver: 14 nTPM
- cerebral cortex: 13 nTPM
- kidney: 13 nTPM
- breast: 13 nTPM
Single-cell type
- choroid plexus epithelial cells: 1,022 nCPM
- neutrophils: 1,019 nCPM
- astrocytes: 895 nCPM
- myonuclei: 842 nCPM
- bergmann glia: 841 nCPM
- pituicytes/fscs: 820 nCPM
Immune cell
- neutrophil: 9.5 nTPM
- naive CD4 T-cell: 1.7 nTPM
- naive B-cell: 1.6 nTPM
- eosinophil: 1.4 nTPM
- naive CD8 T-cell: 1.4 nTPM
- non-classical monocyte: 1.3 nTPM
Brain region
- midbrain: 75 nTPM
- medulla oblongata: 72 nTPM
- cerebellum: 72 nTPM
- hypothalamus: 71 nTPM
- thalamus: 70 nTPM
- basal ganglia: 68 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)
- 0.18
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.74
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- cell-matrix adhesion
- neurotransmitter receptor transport postsynaptic membrane to endosome
- regulation of cell shape
- regulation of receptor internalization
- signal transduction
- vesicle-mediated transport in synapse
Molecular functions
Cellular components
- cell cortex
- cytoplasm
- cytosol
- GABA-ergic synapse
- nucleoplasm
- postsynaptic endosome membrane
- ruffle
- ubiquitin ligase complex
- postsynaptic specialization membrane of symmetric synapse
Protein domainsUniProt · Pfam · InterPro
- LIS1 homology motif
- CTLH, C-terminal LisH motif
- Kelch repeat type 1
- Galactose-binding-like domain superfamily
- Galactose oxidase/kelch, beta-propeller
- Kelch-type beta-propeller
- Attractin/MKLN-like, beta-propeller domain
- Kelch motif
- Attractin/LZTR1 beta-propeller
- Muskelin, N-terminal
- CTLH complex component protein
- Muskelin N-terminus
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MKLN1 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 MKLN1 as an antibody target. Whether an autoantibody or antibody against MKLN1 could matter depends on whether native MKLN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MKLN1 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 MKLN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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