Human Gene MKLN1 (ENST00000352689.11_4) from GENCODE V47lift37
  Description: muskelin 1, transcript variant 2 (from RefSeq NM_013255.5)
Gencode Transcript: ENST00000352689.11_4
Gencode Gene: ENSG00000128585.18_11
Transcript (Including UTRs)
   Position: hg19 chr7:131,012,635-131,181,391 Size: 168,757 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr7:131,012,659-131,172,487 Size: 159,829 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:131,012,635-131,181,391)mRNA (may differ from genome)Protein (735 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MKLN1_HUMAN
DESCRIPTION: RecName: Full=Muskelin;
FUNCTION: Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1 (By similarity).
SUBUNIT: Interacts with the C-terminal tail of the prostaglandin EP3 receptor alpha isoform (By similarity). Interacts with RANBP9. Part of a complex consisting of RANBP9, MKLN1 and GID8.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
SIMILARITY: Contains 1 CTLH domain.
SIMILARITY: Contains 6 Kelch repeats.
SIMILARITY: Contains 1 LisH domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.74 RPKM in Nerve - Tibial
Total median expression: 377.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.1024-0.254 Picture PostScript Text
3' UTR -2185.498904-0.245 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006595 - CTLH_C
IPR008979 - Galactose-bd-like
IPR015915 - Kelch-typ_b-propeller
IPR006594 - LisH_dimerisation
IPR010565 - Muskelin_N

Pfam Domains:
PF00754 - F5/8 type C domain
PF01344 - Kelch motif
PF06588 - Muskelin N-terminus
PF13415 - Galactose oxidase, central domain
PF13418 - Galactose oxidase, central domain

SCOP Domains:
49785 - Galactose-binding domain-like
117281 - Kelch motif
63825 - YWTD domain
69304 - Tricorn protease N-terminal domain
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase

ModBase Predicted Comparative 3D Structure on Q9UL63
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0042802 identical protein binding

Biological Process:
GO:0007160 cell-matrix adhesion
GO:0007165 signal transduction
GO:0008360 regulation of cell shape
GO:0031532 actin cytoskeleton reorganization

Cellular Component:
GO:0001726 ruffle
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005938 cell cortex
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK294384 - Homo sapiens cDNA FLJ58802 complete cds, highly similar to Muskelin.
LF384091 - JP 2014500723-A/191594: Polycomb-Associated Non-Coding RNAs.
KJ897190 - Synthetic construct Homo sapiens clone ccsbBroadEn_06584 MKLN1 gene, encodes complete protein.
BC067825 - Homo sapiens muskelin 1, intracellular mediator containing kelch motifs, mRNA (cDNA clone MGC:87360 IMAGE:5268939), complete cds.
AF047489 - Homo sapiens muskelin (MKLN1) mRNA, complete cds.
AK310452 - Homo sapiens cDNA, FLJ17494.
AK002024 - Homo sapiens cDNA FLJ11162 fis, clone PLACE1007105.
MA619668 - JP 2018138019-A/191594: Polycomb-Associated Non-Coding RNAs.
BC002834 - Homo sapiens muskelin 1, intracellular mediator containing kelch motifs, mRNA (cDNA clone IMAGE:3659252), partial cds.
DQ570031 - Homo sapiens piRNA piR-30143, complete sequence.
LF361199 - JP 2014500723-A/168702: Polycomb-Associated Non-Coding RNAs.
AL162071 - Homo sapiens mRNA; cDNA DKFZp762I156 (from clone DKFZp762I156); partial cds.
LF361206 - JP 2014500723-A/168709: Polycomb-Associated Non-Coding RNAs.
LF361207 - JP 2014500723-A/168710: Polycomb-Associated Non-Coding RNAs.
LF361209 - JP 2014500723-A/168712: Polycomb-Associated Non-Coding RNAs.
BX537433 - Homo sapiens mRNA; cDNA DKFZp686K2366 (from clone DKFZp686K2366).
AK130754 - Homo sapiens cDNA FLJ27244 fis, clone SYN08157.
AK057978 - Homo sapiens cDNA FLJ25249 fis, clone STM03473.
LF361210 - JP 2014500723-A/168713: Polycomb-Associated Non-Coding RNAs.
LF361218 - JP 2014500723-A/168721: Polycomb-Associated Non-Coding RNAs.
JD241087 - Sequence 222111 from Patent EP1572962.
JD367921 - Sequence 348945 from Patent EP1572962.
JD516636 - Sequence 497660 from Patent EP1572962.
JD059356 - Sequence 40380 from Patent EP1572962.
LF361219 - JP 2014500723-A/168722: Polycomb-Associated Non-Coding RNAs.
LF361220 - JP 2014500723-A/168723: Polycomb-Associated Non-Coding RNAs.
LF361221 - JP 2014500723-A/168724: Polycomb-Associated Non-Coding RNAs.
LF361222 - JP 2014500723-A/168725: Polycomb-Associated Non-Coding RNAs.
AF086386 - Homo sapiens full length insert cDNA clone ZD71D01.
LF361223 - JP 2014500723-A/168726: Polycomb-Associated Non-Coding RNAs.
BC016007 - Homo sapiens cDNA clone IMAGE:4656464, **** WARNING: chimeric clone ****.
LF361224 - JP 2014500723-A/168727: Polycomb-Associated Non-Coding RNAs.
LF207071 - JP 2014500723-A/14574: Polycomb-Associated Non-Coding RNAs.
AK074367 - Homo sapiens cDNA FLJ23787 fis, clone HEP21372.
AL833458 - Homo sapiens mRNA; cDNA DKFZp686J19116 (from clone DKFZp686J19116).
BX538253 - Homo sapiens mRNA; cDNA DKFZp686F2198 (from clone DKFZp686F2198).
LF361225 - JP 2014500723-A/168728: Polycomb-Associated Non-Coding RNAs.
AK025088 - Homo sapiens cDNA: FLJ21435 fis, clone COL04244.
BC013938 - Homo sapiens cDNA clone IMAGE:3997644, partial cds.
MA596776 - JP 2018138019-A/168702: Polycomb-Associated Non-Coding RNAs.
MA596783 - JP 2018138019-A/168709: Polycomb-Associated Non-Coding RNAs.
MA596784 - JP 2018138019-A/168710: Polycomb-Associated Non-Coding RNAs.
MA596786 - JP 2018138019-A/168712: Polycomb-Associated Non-Coding RNAs.
MA596787 - JP 2018138019-A/168713: Polycomb-Associated Non-Coding RNAs.
MA596795 - JP 2018138019-A/168721: Polycomb-Associated Non-Coding RNAs.
MA596796 - JP 2018138019-A/168722: Polycomb-Associated Non-Coding RNAs.
MA596797 - JP 2018138019-A/168723: Polycomb-Associated Non-Coding RNAs.
MA596798 - JP 2018138019-A/168724: Polycomb-Associated Non-Coding RNAs.
MA596799 - JP 2018138019-A/168725: Polycomb-Associated Non-Coding RNAs.
MA596800 - JP 2018138019-A/168726: Polycomb-Associated Non-Coding RNAs.
MA596801 - JP 2018138019-A/168727: Polycomb-Associated Non-Coding RNAs.
MA442648 - JP 2018138019-A/14574: Polycomb-Associated Non-Coding RNAs.
MA596802 - JP 2018138019-A/168728: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D1M8, A6NG43, ENST00000352689.1, ENST00000352689.10, ENST00000352689.2, ENST00000352689.3, ENST00000352689.4, ENST00000352689.5, ENST00000352689.6, ENST00000352689.7, ENST00000352689.8, ENST00000352689.9, MKLN1_HUMAN, NM_013255, Q9NSK4, Q9NUS8, Q9UL63, uc317yhb.1, uc317yhb.2
UCSC ID: ENST00000352689.11_4
RefSeq Accession: NM_013255.5
Protein: Q9UL63 (aka MKLN1_HUMAN or MKLN_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.