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Entry version 104 (07 Oct 2020)
Sequence version 3 (18 May 2010)
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Protein

Protein moonraker

Gene

KIAA0753

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

Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:24613305, PubMed:26297806).1 Publication

<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 - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q2KHM9

<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:
Protein moonraker1 Publication
Short name:
MNR1 Publication
Alternative name(s):
OFD1- and FOPNL-interacting protein1 Publication
<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:KIAA0753
Synonyms:MNR1 Publication, OFIP1 Publication
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000198920.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29110, KIAA0753

Online Mendelian Inheritance in Man (OMIM)

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MIMi
617112, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q2KHM9

<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

Cytoplasm, Cytoskeleton

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Orofaciodigital syndrome 15 (OFD15)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD15 features include facial dysmorphism, lobulated tongue, clefting of the alveolar ridges, left hand postaxial polydactyly, broad right hallux and left hallux duplication, and intermittent respiratory difficulty. Brain anomalies include vermis hypoplasia with molar tooth sign, agenesis of corpus callosum, and ventricular dilation. OFD15 inheritance is autosomal recessive.
Related information in OMIM

Keywords - Diseasei

Ciliopathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
9851

MalaCards human disease database

More...
MalaCardsi
KIAA0753
MIMi617127, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198920

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2754, Orofaciodigital syndrome type 6

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671615

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q2KHM9, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KIAA0753

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439322

<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 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002801091 – 967Protein moonrakerAdd BLAST967

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 residuei287PhosphoserineCombined sources1
Modified residuei409PhosphoserineCombined sources1
Modified residuei700PhosphoserineCombined sources1
Modified residuei826PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q2KHM9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q2KHM9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q2KHM9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q2KHM9

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

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PaxDbi
Q2KHM9

PeptideAtlas

More...
PeptideAtlasi
Q2KHM9

PRoteomics IDEntifications database

More...
PRIDEi
Q2KHM9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
61302 [Q2KHM9-1]
61303 [Q2KHM9-2]

2D gel databases

USC-OGP 2-DE database

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OGPi
O94853

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q2KHM9

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

More...
PhosphoSitePlusi
Q2KHM9

<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

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Bgeei
ENSG00000198920, Expressed in lower esophagus and 215 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q2KHM9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q2KHM9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000198920, Low tissue specificity

<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

Interacts with CEP63 (PubMed:24613305).

Interacts with WDR62 (PubMed:26297806).

Forms a complex with OFD1 and CEP20/FOR20 (PubMed:26643951).

Interacts with PCM1 (PubMed:26297806, PubMed:26643951).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
115185, 139 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q2KHM9

Database of interacting proteins

More...
DIPi
DIP-61716N

Protein interaction database and analysis system

More...
IntActi
Q2KHM9, 121 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000355250

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q2KHM9, protein

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni885 – 967Necessary and sufficient for CEP20-binding1 PublicationAdd BLAST83

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili616 – 642Sequence analysisAdd BLAST27

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QQYJ, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000009714

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_012839_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q2KHM9

KEGG Orthology (KO)

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KOi
K21765

Identification of Orthologs from Complete Genome Data

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OMAi
RIISHEA

Database of Orthologous Groups

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OrthoDBi
651659at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q2KHM9

TreeFam database of animal gene trees

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TreeFami
TF331402

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR031447, MNR

The PANTHER Classification System

More...
PANTHERi
PTHR15732, PTHR15732, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15718, MNR, 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.

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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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: Q2KHM9-1) [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
MGPGQPASTC VHLAPRTQLD GRSDPKVLQT QNQLQFNRNV PTHSSNLAIR
60 70 80 90 100
YSCPHAIRIE KLKHSYNESY HCKDADCRVG PDLGSSVSFS VISQERLSYA
110 120 130 140 150
VHLARRDVKR RQFEKHIKEH HLRSQPQSSQ KCGHTKYKIP DHRVERKESK
160 170 180 190 200
SQAACQCSHQ PSKVEISSSG AKVYLYSSHP GQSDLTVPNS PPTHDPGLQP
210 220 230 240 250
HPRIGDHKNI SEQKSLLEVQ RLQKELSSCI HKIEEVTKKD RLEEALDPDE
260 270 280 290 300
ERRIRIRRQE QAARSARMLY VLQQQVKEIQ EELDKLSPHK IKHTKKSWAM
310 320 330 340 350
SKLAAAHRGA IRALQMFVTQ FTDRGEHPLP ARCKELGSLI RQLSLCSVKL
360 370 380 390 400
DADPSVPDVV IDILQQIEAL ESLLEKKLSP KKVKKCFSEI RSRFPIGSQK
410 420 430 440 450
ALERWPSTSP KGERRPLTAK DTFPQETSRP SVAKQLLADK YQPDTELPET
460 470 480 490 500
QRLQSELDVL DADIVLEEGP FILDQSASFK DEVLAVAKTK AGKKKPVTEN
510 520 530 540 550
VPFRKKDTLA PARQQGLRKA ERGRQSQPHS KSRVQQTTVS SRLKMNRQPV
560 570 580 590 600
KDRKAPWIPP NPTSPPASPK CAAWLKVKTS PRDATKEPLQ QEDPQEESHL
610 620 630 640 650
TGAVEHEAAR LAWLDAETSK RLKELEELKA KEIDSMQKQR LDWLDAETSR
660 670 680 690 700
RTKELNELKA EEMYRLQQLS VSATHLADKV EEAVLDRLKP LLVKAQRVNS
710 720 730 740 750
TTEANIHLKD GSSVNTAKAQ PAQEVAAVDF ESNNIRQLDD FLEDCASELW
760 770 780 790 800
AVTHAKILGS ETLATVEDSK DSPDLEIMMR RMEEMEKYQE SVRQRYNKIA
810 820 830 840 850
YADPRLWMQE ENNDQKISAI SEKPLSPHPI RITKTVDRKD PAVNIMLERP
860 870 880 890 900
CNGNSLDESV GTEEGSEKRE APLLSLAEDS QQKEGRAPLF VPPGMQHSIG
910 920 930 940 950
DYCSRFEQYL RIISHEAVGS FNPWLIAESF SEELVDEALG AVAAELQDMC
960
EDYAEAVFTS EFLEAAT
Length:967
Mass (Da):109,407
Last modified:May 18, 2010 - v3
<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:i2245C5246165B8AA
GO
Isoform 2 (identifier: Q2KHM9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-299: Missing.

Show »
Length:668
Mass (Da):75,136
Checksum:i9E7545743FB62FF4
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
I3L3Y0I3L3Y0_HUMAN
Protein moonraker
KIAA0753
248Annotation 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>
I3L2A7I3L2A7_HUMAN
Protein moonraker
KIAA0753
69Annotation 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>
F6SFD5F6SFD5_HUMAN
Protein moonraker
KIAA0753
45Annotation 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>
I3L1P2I3L1P2_HUMAN
Protein moonraker
KIAA0753
87Annotation 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>
I3L341I3L341_HUMAN
Protein moonraker
KIAA0753
129Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA34473 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

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 conflicti250E → K in BAF85565 (PubMed:14702039).Curated1
Sequence conflicti821S → G in BAA34473 (PubMed:9872452).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_031065201H → Q. Corresponds to variant dbSNP:rs16955985Ensembl.1
Natural variantiVAR_079381257R → G Found in two patients with Joubert syndrome associated with GH deficiency; unknown pathological significance. 1 Publication1
Natural variantiVAR_031066375E → D. Corresponds to variant dbSNP:rs9889363Ensembl.1
Natural variantiVAR_031067375E → G. Corresponds to variant dbSNP:rs17794522Ensembl.1
Natural variantiVAR_031068444D → N3 PublicationsCorresponds to variant dbSNP:rs2289643Ensembl.1
Natural variantiVAR_031069466L → P3 PublicationsCorresponds to variant dbSNP:rs2289642Ensembl.1
Natural variantiVAR_031070501V → M. Corresponds to variant dbSNP:rs11868877EnsemblClinVar.1
Natural variantiVAR_031071566P → L. Corresponds to variant dbSNP:rs2304977Ensembl.1
Natural variantiVAR_031072896Q → R3 PublicationsCorresponds to variant dbSNP:rs1443417Ensembl.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_0235391 – 299Missing in isoform 2. 2 PublicationsAdd BLAST299

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB018296 mRNA Translation: BAA34473.2 Different initiation.
AK292876 mRNA Translation: BAF85565.1
AK296971 mRNA Translation: BAH12465.1
AC004706 Genomic DNA No translation available.
AC015916 Genomic DNA No translation available.
BC113016 mRNA Translation: AAI13017.1
BC113017 mRNA Translation: AAI13018.1
AL080108 mRNA Translation: CAB45712.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS42247.1 [Q2KHM9-1]
CCDS86564.1 [Q2KHM9-2]

Protein sequence database of the Protein Information Resource

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PIRi
T12550

NCBI Reference Sequences

More...
RefSeqi
NP_055619.2, NM_014804.2 [Q2KHM9-1]
XP_006721675.1, XM_006721612.2 [Q2KHM9-2]
XP_016880945.1, XM_017025456.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000361413; ENSP00000355250; ENSG00000198920 [Q2KHM9-1]
ENST00000572370; ENSP00000460050; ENSG00000198920 [Q2KHM9-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9851

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9851

UCSC genome browser

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UCSCi
uc002gde.5, human [Q2KHM9-1]

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
AB018296 mRNA Translation: BAA34473.2 Different initiation.
AK292876 mRNA Translation: BAF85565.1
AK296971 mRNA Translation: BAH12465.1
AC004706 Genomic DNA No translation available.
AC015916 Genomic DNA No translation available.
BC113016 mRNA Translation: AAI13017.1
BC113017 mRNA Translation: AAI13018.1
AL080108 mRNA Translation: CAB45712.1
CCDSiCCDS42247.1 [Q2KHM9-1]
CCDS86564.1 [Q2KHM9-2]
PIRiT12550
RefSeqiNP_055619.2, NM_014804.2 [Q2KHM9-1]
XP_006721675.1, XM_006721612.2 [Q2KHM9-2]
XP_016880945.1, XM_017025456.1

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi115185, 139 interactors
CORUMiQ2KHM9
DIPiDIP-61716N
IntActiQ2KHM9, 121 interactors
STRINGi9606.ENSP00000355250

PTM databases

iPTMnetiQ2KHM9
PhosphoSitePlusiQ2KHM9

Polymorphism and mutation databases

BioMutaiKIAA0753
DMDMi296439322

2D gel databases

OGPiO94853

Proteomic databases

EPDiQ2KHM9
jPOSTiQ2KHM9
MassIVEiQ2KHM9
MaxQBiQ2KHM9
PaxDbiQ2KHM9
PeptideAtlasiQ2KHM9
PRIDEiQ2KHM9
ProteomicsDBi61302 [Q2KHM9-1]
61303 [Q2KHM9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
5845, 20 antibodies

Genome annotation databases

EnsembliENST00000361413; ENSP00000355250; ENSG00000198920 [Q2KHM9-1]
ENST00000572370; ENSP00000460050; ENSG00000198920 [Q2KHM9-2]
GeneIDi9851
KEGGihsa:9851
UCSCiuc002gde.5, human [Q2KHM9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9851
DisGeNETi9851
EuPathDBiHostDB:ENSG00000198920.9

GeneCards: human genes, protein and diseases

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GeneCardsi
KIAA0753
HGNCiHGNC:29110, KIAA0753
HPAiENSG00000198920, Low tissue specificity
MalaCardsiKIAA0753
MIMi617112, gene
617127, phenotype
neXtProtiNX_Q2KHM9
OpenTargetsiENSG00000198920
Orphaneti2754, Orofaciodigital syndrome type 6
PharmGKBiPA142671615

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QQYJ, Eukaryota
GeneTreeiENSGT00390000009714
HOGENOMiCLU_012839_0_0_1
InParanoidiQ2KHM9
KOiK21765
OMAiRIISHEA
OrthoDBi651659at2759
PhylomeDBiQ2KHM9
TreeFamiTF331402

Enzyme and pathway databases

PathwayCommonsiQ2KHM9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9851, 3 hits in 879 CRISPR screens

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

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ChiTaRSi
KIAA0753, human

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

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GenomeRNAii
9851
PharosiQ2KHM9, Tdark

Protein Ontology

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PROi
PR:Q2KHM9
RNActiQ2KHM9, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198920, Expressed in lower esophagus and 215 other tissues
ExpressionAtlasiQ2KHM9, baseline and differential
GenevisibleiQ2KHM9, HS

Family and domain databases

InterProiView protein in InterPro
IPR031447, MNR
PANTHERiPTHR15732, PTHR15732, 1 hit
PfamiView protein in Pfam
PF15718, MNR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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 nameiMOONR_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: Q2KHM9
Secondary accession number(s): A8KA11
, B7Z479, O94853, Q05D97, Q2KHN0, Q9UG45
<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: March 6, 2007
Last sequence update: May 18, 2010
Last modified: October 7, 2020
This is version 104 of the entry and version 3 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 chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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