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Entry version 175 (26 Feb 2020)
Sequence version 2 (10 Oct 2002)
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Protein

Muskelin

Gene

MKLN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Muskelin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MKLN1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7109 MKLN1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605623 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UL63

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Nucleus, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
4289

Open Targets

More...
OpenTargetsi
ENSG00000128585

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30828

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UL63 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MKLN1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
23821862

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001191382 – 735MuskelinAdd BLAST734

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UL63

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UL63

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9UL63

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UL63

PeptideAtlas

More...
PeptideAtlasi
Q9UL63

PRoteomics IDEntifications database

More...
PRIDEi
Q9UL63

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
84959 [Q9UL63-1]
84960 [Q9UL63-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UL63

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UL63

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000128585 Expressed in oviduct epithelium and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UL63 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UL63 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA022817
HPA041810

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110435, 87 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9UL63

Protein interaction database and analysis system

More...
IntActi
Q9UL63, 48 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000323527

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9UL63 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9UL63

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini172 – 204LisHPROSITE-ProRule annotationAdd BLAST33
Domaini206 – 258CTLHPROSITE-ProRule annotationAdd BLAST53
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati284 – 330Kelch 1Add BLAST47
Repeati339 – 391Kelch 2Add BLAST53
Repeati408 – 458Kelch 3Add BLAST51
Repeati469 – 515Kelch 4Add BLAST47
Repeati526 – 578Kelch 5Add BLAST53
Repeati597 – 651Kelch 6Add BLAST55

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The LisH mediates head to tail dimerization.By similarity

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2437 Eukaryota
ENOG410YJKC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001702

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_004210_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UL63

KEGG Orthology (KO)

More...
KOi
K23337

Identification of Orthologs from Complete Genome Data

More...
OMAi
AECIDEG

Database of Orthologous Groups

More...
OrthoDBi
145268at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UL63

TreeFam database of animal gene trees

More...
TreeFami
TF323659

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.120.10.80, 2 hits
2.60.120.260, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01344 Kelch_1, 1 hit
PF06588 Muskelin_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00667 LisH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF117281 SSF117281, 1 hit
SSF49785 SSF49785, 1 hit
SSF50965 SSF50965, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50897 CTLH, 1 hit
PS50896 LISH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:528
Mass (Da):60,739
Checksum:i5A40ACB19A54A58E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JXB0C9JXB0_HUMAN
Muskelin
MKLN1
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEY7F8WEY7_HUMAN
Muskelin
MKLN1
170Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JWX9C9JWX9_HUMAN
Muskelin
MKLN1
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JVL5C9JVL5_HUMAN
Muskelin
MKLN1
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_050057469C → G. Corresponds to variant dbSNP:rs323844Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0218521 – 207Missing in isoform 2. 1 PublicationAdd BLAST207

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34754.1 [Q9UL63-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T47173

NCBI Reference Sequences

More...
RefSeqi
NP_001138826.1, NM_001145354.1
NP_001308245.1, NM_001321316.1 [Q9UL63-2]
NP_037387.2, NM_013255.4 [Q9UL63-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000352689; ENSP00000323527; ENSG00000128585 [Q9UL63-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4289

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4289

UCSC genome browser

More...
UCSCi
uc011kpm.3 human [Q9UL63-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ9UL63
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110435, 87 interactors
CORUMiQ9UL63
IntActiQ9UL63, 48 interactors
STRINGi9606.ENSP00000323527

PTM databases

iPTMnetiQ9UL63
PhosphoSitePlusiQ9UL63

Polymorphism and mutation databases

BioMutaiMKLN1
DMDMi23821862

Proteomic databases

EPDiQ9UL63
jPOSTiQ9UL63
MassIVEiQ9UL63
PaxDbiQ9UL63
PeptideAtlasiQ9UL63
PRIDEiQ9UL63
ProteomicsDBi84959 [Q9UL63-1]
84960 [Q9UL63-2]

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4289
DisGeNETi4289

GeneCards: human genes, protein and diseases

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GeneCardsi
MKLN1
HGNCiHGNC:7109 MKLN1
HPAiHPA022817
HPA041810
MIMi605623 gene
neXtProtiNX_Q9UL63
OpenTargetsiENSG00000128585
PharmGKBiPA30828

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2437 Eukaryota
ENOG410YJKC LUCA
GeneTreeiENSGT00390000001702
HOGENOMiCLU_004210_1_0_1
InParanoidiQ9UL63
KOiK23337
OMAiAECIDEG
OrthoDBi145268at2759
PhylomeDBiQ9UL63
TreeFamiTF323659

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MKLN1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MKLN1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4289
PharosiQ9UL63 Tbio

Protein Ontology

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PROi
PR:Q9UL63
RNActiQ9UL63 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000128585 Expressed in oviduct epithelium and 213 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMKLN1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UL63
Secondary accession number(s): A4D1M8
, A6NG43, Q9NSK4, Q9NUS8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 10, 2002
Last modified: February 26, 2020
This is version 175 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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