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Protein

Muskelin

Gene

MKLN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Required for internalization of the GABA receptor GABRA1 from the cell membrane via endosomes and subsequent GABRA1 degradation (By similarity). Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1 (PubMed:18710924).By similarity2 Publications

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Muskelin
Gene namesi
Name:MKLN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000128585.17
HGNCiHGNC:7109 MKLN1
MIMi605623 gene
neXtProtiNX_Q9UL63

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Nucleus, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi4289
OpenTargetsiENSG00000128585
PharmGKBiPA30828

Polymorphism and mutation databases

BioMutaiMKLN1
DMDMi23821862

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001191382 – 735MuskelinAdd BLAST734

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9UL63
PaxDbiQ9UL63
PeptideAtlasiQ9UL63
PRIDEiQ9UL63
ProteomicsDBi84959
84960 [Q9UL63-2]

PTM databases

iPTMnetiQ9UL63
PhosphoSitePlusiQ9UL63

Expressioni

Gene expression databases

BgeeiENSG00000128585 Expressed in 214 organ(s), highest expression level in oviduct epithelium
CleanExiHS_MKLN1
ExpressionAtlasiQ9UL63 baseline and differential
GenevisibleiQ9UL63 HS

Organism-specific databases

HPAiHPA022817
HPA041810

Interactioni

Subunit structurei

Homodimer; may form higher oligomers (By similarity). Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5 (PubMed:17467196, PubMed:29911972). Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles (PubMed:29911972). Interacts with RANBP9 (PubMed:18710924). Part of a complex consisting of RANBP9, MKLN1 and GID8 (PubMed:12559565). Interacts with GABRA1. Interacts with the C-terminal tail of PTGER3 (By similarity).By similarity4 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110435, 83 interactors
CORUMiQ9UL63
IntActiQ9UL63, 25 interactors
STRINGi9606.ENSP00000323527

Structurei

3D structure databases

ProteinModelPortaliQ9UL63
SMRiQ9UL63
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini172 – 204LisHPROSITE-ProRule annotationAdd BLAST33
Domaini206 – 258CTLHPROSITE-ProRule annotationAdd BLAST53
Repeati284 – 330Kelch 1Add BLAST47
Repeati339 – 391Kelch 2Add BLAST53
Repeati408 – 458Kelch 3Add BLAST51
Repeati469 – 515Kelch 4Add BLAST47
Repeati526 – 578Kelch 5Add BLAST53
Repeati597 – 651Kelch 6Add BLAST55

Domaini

The LisH mediates head to tail dimerization.By similarity

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG2437 Eukaryota
ENOG410YJKC LUCA
GeneTreeiENSGT00390000001702
HOGENOMiHOG000047912
HOVERGENiHBG052481
InParanoidiQ9UL63
OMAiWYVELNG
OrthoDBiEOG091G07E6
PhylomeDBiQ9UL63
TreeFamiTF323659

Family and domain databases

Gene3Di2.120.10.80, 2 hits
2.60.120.260, 1 hit
InterProiView protein in InterPro
IPR006595 CTLH_C
IPR011043 Gal_Oxase/kelch_b-propeller
IPR008979 Galactose-bd-like_sf
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR006594 LisH
IPR010565 Muskelin_N
PfamiView protein in Pfam
PF01344 Kelch_1, 1 hit
PF06588 Muskelin_N, 1 hit
SMARTiView protein in SMART
SM00667 LisH, 1 hit
SUPFAMiSSF117281 SSF117281, 1 hit
SSF49785 SSF49785, 1 hit
SSF50965 SSF50965, 1 hit
PROSITEiView protein in PROSITE
PS50897 CTLH, 1 hit
PS50896 LISH, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UL63-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAGGAVAAA PECRLLPYAL HKWSSFSSTY LPENILVDKP NDQSSRWSSE
60 70 80 90 100
SNYPPQYLIL KLERPAIVQN ITFGKYEKTH VCNLKKFKVF GGMNEENMTE
110 120 130 140 150
LLSSGLKNDY NKETFTLKHK IDEQMFPCRF IKIVPLLSWG PSFNFSIWYV
160 170 180 190 200
ELSGIDDPDI VQPCLNWYSK YREQEAIRLC LKHFRQHNYT EAFESLQKKT
210 220 230 240 250
KIALEHPMLT DIHDKLVLKG DFDACEELIE KAVNDGLFNQ YISQQEYKPR
260 270 280 290 300
WSQIIPKSTK GDGEDNRPGM RGGHQMVIDV QTETVYLFGG WDGTQDLADF
310 320 330 340 350
WAYSVKENQW TCISRDTEKE NGPSARSCHK MCIDIQRRQI YTLGRYLDSS
360 370 380 390 400
VRNSKSLKSD FYRYDIDTNT WMLLSEDTAA DGGPKLVFDH QMCMDSEKHM
410 420 430 440 450
IYTFGGRILT CNGSVDDSRA SEPQFSGLFA FNCQCQTWKL LREDSCNAGP
460 470 480 490 500
EDIQSRIGHC MLFHSKNRCL YVFGGQRSKT YLNDFFSYDV DSDHVDIISD
510 520 530 540 550
GTKKDSGMVP MTGFTQRATI DPELNEIHVL SGLSKDKEKR EENVRNSFWI
560 570 580 590 600
YDIVRNSWSC VYKNDQAAKD NPTKSLQEEE PCPRFAHQLV YDELHKVHYL
610 620 630 640 650
FGGNPGKSCS PKMRLDDFWS LKLCRPSKDY LLRHCKYLIR KHRFEEKAQV
660 670 680 690 700
DPLSALKYLQ NDLYITVDHS DPEETKEFQL LASALFKSGS DFTALGFSDV
710 720 730
DHTYAQRTQL FDTLVNFFPD SMTPPKGNLV DLITL
Length:735
Mass (Da):84,768
Last modified:October 10, 2002 - v2
Checksum:i1A8F06FE1DE9193D
GO
Isoform 2 (identifier: Q9UL63-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-207: Missing.

Note: No experimental confirmation available.
Show »
Length:528
Mass (Da):60,739
Checksum:i5A40ACB19A54A58E
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J7E8C9J7E8_HUMAN
Muskelin
MKLN1
643Annotation score:
C9JXB0C9JXB0_HUMAN
Muskelin
MKLN1
126Annotation score:
C9JWX9C9JWX9_HUMAN
Muskelin
MKLN1
78Annotation score:
F8WEY7F8WEY7_HUMAN
Muskelin
MKLN1
170Annotation score:
C9JVL5C9JVL5_HUMAN
Muskelin
MKLN1
97Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6A → M in AAF06698 (PubMed:10640805).Curated1
Sequence conflicti111N → Y in AAF06698 (PubMed:10640805).Curated1
Sequence conflicti408I → N in AAF06698 (PubMed:10640805).Curated1
Sequence conflicti414S → G in AAF06698 (PubMed:10640805).Curated1
Sequence conflicti436Q → K in AAF06698 (PubMed:10640805).Curated1
Sequence conflicti474G → A in AAF06698 (PubMed:10640805).Curated1
Sequence conflicti502T → N in AAF06698 (PubMed:10640805).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050057469C → G. Corresponds to variant dbSNP:rs323844Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0218521 – 207Missing in isoform 2. 1 PublicationAdd BLAST207

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF047489 mRNA Translation: AAF06698.1
AK002024 mRNA Translation: BAA92042.1
AC018642 Genomic DNA No translation available.
CH236950 Genomic DNA Translation: EAL24081.1
CH471070 Genomic DNA Translation: EAW83782.1
BC002834 mRNA Translation: AAH02834.2
BC067825 mRNA Translation: AAH67825.1
AL162071 mRNA Translation: CAB82407.1
CCDSiCCDS34754.1 [Q9UL63-1]
PIRiT47173
RefSeqiNP_001138826.1, NM_001145354.1
NP_001308245.1, NM_001321316.1 [Q9UL63-2]
NP_037387.2, NM_013255.4 [Q9UL63-1]
UniGeneiHs.44693

Genome annotation databases

EnsembliENST00000352689; ENSP00000323527; ENSG00000128585 [Q9UL63-1]
GeneIDi4289
KEGGihsa:4289
UCSCiuc011kpm.3 human [Q9UL63-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF047489 mRNA Translation: AAF06698.1
AK002024 mRNA Translation: BAA92042.1
AC018642 Genomic DNA No translation available.
CH236950 Genomic DNA Translation: EAL24081.1
CH471070 Genomic DNA Translation: EAW83782.1
BC002834 mRNA Translation: AAH02834.2
BC067825 mRNA Translation: AAH67825.1
AL162071 mRNA Translation: CAB82407.1
CCDSiCCDS34754.1 [Q9UL63-1]
PIRiT47173
RefSeqiNP_001138826.1, NM_001145354.1
NP_001308245.1, NM_001321316.1 [Q9UL63-2]
NP_037387.2, NM_013255.4 [Q9UL63-1]
UniGeneiHs.44693

3D structure databases

ProteinModelPortaliQ9UL63
SMRiQ9UL63
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110435, 83 interactors
CORUMiQ9UL63
IntActiQ9UL63, 25 interactors
STRINGi9606.ENSP00000323527

PTM databases

iPTMnetiQ9UL63
PhosphoSitePlusiQ9UL63

Polymorphism and mutation databases

BioMutaiMKLN1
DMDMi23821862

Proteomic databases

EPDiQ9UL63
PaxDbiQ9UL63
PeptideAtlasiQ9UL63
PRIDEiQ9UL63
ProteomicsDBi84959
84960 [Q9UL63-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000352689; ENSP00000323527; ENSG00000128585 [Q9UL63-1]
GeneIDi4289
KEGGihsa:4289
UCSCiuc011kpm.3 human [Q9UL63-1]

Organism-specific databases

CTDi4289
DisGeNETi4289
EuPathDBiHostDB:ENSG00000128585.17
GeneCardsiMKLN1
HGNCiHGNC:7109 MKLN1
HPAiHPA022817
HPA041810
MIMi605623 gene
neXtProtiNX_Q9UL63
OpenTargetsiENSG00000128585
PharmGKBiPA30828
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2437 Eukaryota
ENOG410YJKC LUCA
GeneTreeiENSGT00390000001702
HOGENOMiHOG000047912
HOVERGENiHBG052481
InParanoidiQ9UL63
OMAiWYVELNG
OrthoDBiEOG091G07E6
PhylomeDBiQ9UL63
TreeFamiTF323659

Miscellaneous databases

ChiTaRSiMKLN1 human
GeneWikiiMKLN1
GenomeRNAii4289
PROiPR:Q9UL63
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128585 Expressed in 214 organ(s), highest expression level in oviduct epithelium
CleanExiHS_MKLN1
ExpressionAtlasiQ9UL63 baseline and differential
GenevisibleiQ9UL63 HS

Family and domain databases

Gene3Di2.120.10.80, 2 hits
2.60.120.260, 1 hit
InterProiView protein in InterPro
IPR006595 CTLH_C
IPR011043 Gal_Oxase/kelch_b-propeller
IPR008979 Galactose-bd-like_sf
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR006594 LisH
IPR010565 Muskelin_N
PfamiView protein in Pfam
PF01344 Kelch_1, 1 hit
PF06588 Muskelin_N, 1 hit
SMARTiView protein in SMART
SM00667 LisH, 1 hit
SUPFAMiSSF117281 SSF117281, 1 hit
SSF49785 SSF49785, 1 hit
SSF50965 SSF50965, 1 hit
PROSITEiView protein in PROSITE
PS50897 CTLH, 1 hit
PS50896 LISH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMKLN1_HUMAN
AccessioniPrimary (citable) accession number: Q9UL63
Secondary accession number(s): A4D1M8
, A6NG43, Q9NSK4, Q9NUS8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 10, 2002
Last modified: October 10, 2018
This is version 163 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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