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MKLN1 muskelin 1 [ Homo sapiens (human) ]

Gene ID: 4289, updated on 28-Jun-2021

Summary

Official Symbol
MKLN1provided by HGNC
Official Full Name
muskelin 1provided by HGNC
Primary source
HGNC:HGNC:7109
See related
Ensembl:ENSG00000128585 MIM:605623
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
TWA2
Summary
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]
Expression
Ubiquitous expression in prostate (RPKM 8.7), brain (RPKM 8.6) and 25 other tissues See more
Orthologs
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Genomic context

See MKLN1 in Genome Data Viewer
Location:
7q32.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (131110094..131496637)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130794853..131181391)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA, p53 induced transcript Neighboring gene Sharpr-MPRA regulatory region 6658 Neighboring gene RNA, U6 small nuclear 1010, pseudogene Neighboring gene MKLN1 intron CAGE-defined mid-level expression enhancer Neighboring gene ribosomal protein L27 pseudogene 11 Neighboring gene MKLN1 antisense RNA Neighboring gene ribosomal protein L31 pseudogene 36 Neighboring gene podocalyxin like Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 6

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
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
GeneReviews: Not available
Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.
GeneReviews: Not available
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11162

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of receptor internalization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
 
located_in ruffle ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
muskelin
Names
muskelin 1, intracellular mediator containing kelch motifs

NCBI Reference Sequences (RefSeq)

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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_001145354.2NP_001138826.1  muskelin isoform 1

    See identical proteins and their annotated locations for NP_001138826.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AC008264, AC009783, AC013434, AI928463, AK294384, BC002834
    UniProtKB/Swiss-Prot
    Q9UL63
    UniProtKB/TrEMBL
    B4DG30
    Conserved Domains (4) summary
    sd00038
    Location:248300
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:433470
    Kelch_1; Kelch motif
    pfam06588
    Location:11184
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:259311
    Kelch_3; Galactose oxidase, central domain
  2. NM_001321316.2NP_001308245.1  muskelin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC008264, AC009783, AK002024, DA172589
    UniProtKB/Swiss-Prot
    Q9UL63
    Conserved Domains (3) summary
    sd00038
    Location:64116
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:249286
    Kelch_1; Kelch motif
    pfam13415
    Location:75127
    Kelch_3; Galactose oxidase, central domain
  3. NM_013255.5NP_037387.2  muskelin isoform 2

    See identical proteins and their annotated locations for NP_037387.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AC008264, AC009783, AI928463, AK294384, BC002834, BC067825, DA172589
    Consensus CDS
    CCDS34754.1
    UniProtKB/Swiss-Prot
    Q9UL63
    UniProtKB/TrEMBL
    B4DG30
    Related
    ENSP00000323527.6, ENST00000352689.11
    Conserved Domains (4) summary
    sd00038
    Location:271323
    Kelch; KELCH repeat [structural motif]
    pfam06588
    Location:12207
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:282334
    Kelch_3; Galactose oxidase, central domain
    cl26061
    Location:307475
    PLN02193; nitrile-specifier protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    131110094..131496637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446767.1XP_024302535.1  muskelin isoform X2

    Related
    ENSP00000398094.2, ENST00000421797.6
    Conserved Domains (4) summary
    sd00038
    Location:179231
    Kelch; KELCH repeat [structural motif]
    pfam06588
    Location:1115
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:190242
    Kelch_3; Galactose oxidase, central domain
    cl26061
    Location:215383
    PLN02193; nitrile-specifier protein
  2. XM_006715993.3XP_006716056.1  muskelin isoform X1

    Conserved Domains (4) summary
    sd00038
    Location:271323
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:456493
    Kelch_1; Kelch motif
    pfam06588
    Location:12207
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:282334
    Kelch_3; Galactose oxidase, central domain
  3. XM_011516224.3XP_011514526.1  muskelin isoform X3

    Conserved Domains (4) summary
    smart00668
    Location:206258
    CTLH; C-terminal to LisH motif
    sd00038
    Location:271323
    Kelch; KELCH repeat [structural motif]
    pfam06588
    Location:12207
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:282334
    Kelch_3; Galactose oxidase, central domain
  4. XM_024446766.1XP_024302534.1  muskelin isoform X2

    Conserved Domains (4) summary
    sd00038
    Location:179231
    Kelch; KELCH repeat [structural motif]
    pfam06588
    Location:1115
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:190242
    Kelch_3; Galactose oxidase, central domain
    cl26061
    Location:215383
    PLN02193; nitrile-specifier protein
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