MKLN1 muskelin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MKLN1provided by HGNC
Official Full Name: muskelin 1provided by HGNC
Primary source: HGNC:HGNC:7109
See related: Ensembl:ENSG00000128585 MIM:605623; AllianceGenome:HGNC:7109
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: mouse all
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Genomic context

Location:: 7q32.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (131110094..131496632)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (132427607..132814224)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (130794853..131181391)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circular RNA MKLN1 promotes epithelial-mesenchymal transition in pulmonary fibrosis by regulating the miR-26a/b-5p/CDK8 axis in human alveolar epithelial cells and mice models.
Title: Circular RNA MKLN1 promotes epithelial-mesenchymal transition in pulmonary fibrosis by regulating the miR-26a/b-5p/CDK8 axis in human alveolar epithelial cells and mice models.
The circRNA MKLN1 regulates autophagy in the development of diabetic retinopathy.
Title: The circRNA MKLN1 regulates autophagy in the development of diabetic retinopathy.
CircMKLN1 Suppresses the Progression of Human Retinoblastoma by Modulation of miR-425-5p/PDCD4 Axis.
Title: CircMKLN1 Suppresses the Progression of Human Retinoblastoma by Modulation of miR-425-5p/PDCD4 Axis.
GID E3 ligase supramolecular chelate assembly configures multipronged ubiquitin targeting of an oligomeric metabolic enzyme.
Title: GID E3 ligase supramolecular chelate assembly configures multipronged ubiquitin targeting of an oligomeric metabolic enzyme.
A meta-analysis genome wide association study suggest MKLN1 is associated with early-onset bipolar disorder.
Title: A genome wide association study suggests the association of muskelin with early onset bipolar disorder: Implications for a GABAergic epileptogenic neurogenesis model.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
These novel findings identify a role for muskelin-RanBP9 complex in pathways that integrate cell morphology regulation and nucleocytoplasmic communication.
Title: Novel role of the muskelin-RanBP9 complex as a nucleocytoplasmic mediator of cell morphology regulation.
RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells
Title: RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat proteins ARMC8alpha and ARMC8beta are components of the CTLH complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S1575 (e-PCR)
- UniSTS:45059

D7S1946 (e-PCR)
- UniSTS:8200

D7S2531 (e-PCR)
- UniSTS:50960

A005Q09 (e-PCR)
- UniSTS:39452

SHGC-110664 (e-PCR)
- UniSTS:167969

SHGC-111218 (e-PCR)
- UniSTS:168230

SHGC-111692 (e-PCR)
- UniSTS:168486

D7S649 (e-PCR), detects polymorphism
- UniSTS:21804

D7S649 (e-PCR), detects polymorphism
- UniSTS:21805

RH75489 (e-PCR)
- UniSTS:84533

D7S2894 (e-PCR)
- UniSTS:11577

HSC20C032 (e-PCR)
- UniSTS:35645

D7S2790 (e-PCR)
- UniSTS:76881

D7S2961 (e-PCR)
- UniSTS:61037

D7S2924 (e-PCR)
- UniSTS:80750

RH10996 (e-PCR)
- UniSTS:66679

DXS8011 (e-PCR)
- UniSTS:37245

G32265 (e-PCR)
- UniSTS:116864

RH122072 (e-PCR)
- UniSTS:134823

D7S649 (e-PCR), detects polymorphism
- UniSTS:85713

D7S2531 (e-PCR)
- UniSTS:74194

RH128619 (e-PCR)
- UniSTS:211927

D7S3054 (e-PCR), detects polymorphism
- UniSTS:27891

GDB:4585556 (e-PCR)
- UniSTS:7668

SHGC-83000 (e-PCR)
- UniSTS:101877

A004O23 (e-PCR)
- UniSTS:63483

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 organization	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 neurotransmitter receptor transport postsynaptic membrane to endosome	IEA Inferred from Electronic Annotation 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
involved_in vesicle-mediated transport in synapse	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
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
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 cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in postsynaptic endosome membrane	IEA Inferred from Electronic Annotation more info
located_in postsynaptic specialization membrane of symmetric synapse	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

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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)

NM_001145354.2 → NP_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/TrEMBL

B4DG30

Conserved Domains (4) summary

sd00038
Location:248 → 300

Kelch; KELCH repeat [structural motif]

pfam01344
Location:433 → 470

Kelch_1; Kelch motif

pfam06588
Location:11 → 184

Muskelin_N; Muskelin N-terminus

pfam13415
Location:259 → 311

Kelch_3; Galactose oxidase, central domain
NM_001321316.2 → NP_001308245.1 muskelin isoform 3

Status: VALIDATED

Source sequence(s)

AC008264, AC009783, AK002024, DA172589

UniProtKB/Swiss-Prot

Q9UL63

Conserved Domains (3) summary

sd00038
Location:64 → 116

Kelch; KELCH repeat [structural motif]

pfam01344
Location:249 → 286

Kelch_1; Kelch motif

pfam13415
Location:75 → 127

Kelch_3; Galactose oxidase, central domain
NM_013255.5 → NP_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

A4D1M8, A6NG43, Q9NSK4, Q9NUS8, Q9UL63

Related

ENSP00000323527.6, ENST00000352689.11

Conserved Domains (4) summary

sd00038
Location:271 → 323

Kelch; KELCH repeat [structural motif]

pfam06588
Location:12 → 207

Muskelin_N; Muskelin N-terminus

pfam13415
Location:282 → 334

Kelch_3; Galactose oxidase, central domain

cl26061
Location:307 → 475

PLN02193; nitrile-specifier protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

131110094..131496632

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420401.1 → XP_047276357.1 muskelin isoform X2
XM_006715993.4 → XP_006716056.1 muskelin isoform X1

Conserved Domains (4) summary

sd00038
Location:271 → 323

Kelch; KELCH repeat [structural motif]

pfam01344
Location:456 → 493

Kelch_1; Kelch motif

pfam06588
Location:12 → 207

Muskelin_N; Muskelin N-terminus

pfam13415
Location:282 → 334

Kelch_3; Galactose oxidase, central domain
XM_011516224.4 → XP_011514526.1 muskelin isoform X3

Conserved Domains (4) summary

smart00668
Location:206 → 258

CTLH; C-terminal to LisH motif

sd00038
Location:271 → 323

Kelch; KELCH repeat [structural motif]

pfam06588
Location:12 → 207

Muskelin_N; Muskelin N-terminus

pfam13415
Location:282 → 334

Kelch_3; Galactose oxidase, central domain
XM_047420402.1 → XP_047276358.1 muskelin isoform X4

UniProtKB/TrEMBL

C9J7E8

Related

ENSP00000398094.2, ENST00000421797.6