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Entry version 154 (23 Feb 2022)
Sequence version 4 (05 May 2009)
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Protein

Homeobox protein NOBOX

Gene

NOBOX

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

Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5'-TAATTG-3', 5'-TAGTTG-3' and 5'-TAATTA-3'.

2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi272 – 363HomeoboxPROSITE-ProRule annotationAdd BLAST92

<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>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>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Oogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
O60393

<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:
Homeobox protein NOBOX
<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:NOBOX
<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:22448, NOBOX

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610934, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60393

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000106410

<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

Keywords - Cellular componenti

Nucleus

<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

Premature ovarian failure 5 (POF5)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
Related information in OMIM
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_06601391G → W in POF5; unknown pathological significance; decreased transactivation activity; decreased nuclear location; intranuclear and cytosolic aggregates. 3 PublicationsCorresponds to variant dbSNP:rs77587352EnsemblClinVar.1
Natural variantiVAR_078292111G → R in POF5; unknown pathological significance; loss of transactivation activity; intranuclear and cytosolic aggregates; not statistically significant decrease of nuclear location. 2 PublicationsCorresponds to variant dbSNP:rs571490209Ensembl.1
Natural variantiVAR_061266117R → W in POF5; unknown pathological significance; decreased transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs7800847EnsemblClinVar.1
Natural variantiVAR_078293152G → R in POF5; unknown pathological significance; decreased nuclear location; intranuclear and cytosolic aggregates. 1 PublicationCorresponds to variant dbSNP:rs201806397EnsemblClinVar.1
Natural variantiVAR_066014342S → T in POF5. 1 PublicationCorresponds to variant dbSNP:rs193303103EnsemblClinVar.1
Natural variantiVAR_066015350V → L in POF5. 1 PublicationCorresponds to variant dbSNP:rs193303104EnsemblClinVar.1
Natural variantiVAR_036636355R → H in POF5. 1 PublicationCorresponds to variant dbSNP:rs201947677EnsemblClinVar.1
Natural variantiVAR_078294371K → T in POF5; unknown pathological significance; decreased transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs189306575Ensembl.1
Natural variantiVAR_078295449 – 691Missing in POF5; unknown pathological significance; not statistically significant decrease of nuclear location. 1 PublicationAdd BLAST243
Natural variantiVAR_036638452D → N in POF5; likely benign variant; decreased nuclear location; intranuclear and cytosolic aggregates. 2 PublicationsCorresponds to variant dbSNP:rs112190116EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Premature ovarian failure

Organism-specific databases

DisGeNET

More...
DisGeNETi
135935

MalaCards human disease database

More...
MalaCardsi
NOBOX
MIMi611548, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000106410

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

More...
Orphaneti
619, NON RARE IN EUROPE: Primary ovarian failure

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O60393, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NOBOX

<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_00002688651 – 691Homeobox protein NOBOXAdd BLAST691

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O60393

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O60393

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

More...
PaxDbi
O60393

PeptideAtlas

More...
PeptideAtlasi
O60393

PRoteomics IDEntifications database

More...
PRIDEi
O60393

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
49389 [O60393-1]
49390 [O60393-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
O60393, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60393

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

More...
PhosphoSitePlusi
O60393

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in ovaries, testes and pancreas. Expressed within all stages of the adult female germline, from primordial follicles through to MII oocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000106410, Expressed in testis and 11 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O60393, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O60393, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000106410, Not detected

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
126440, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000419457

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O60393, 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

<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>Regioni94 – 233DisorderedSequence analysisAdd BLAST140
Regioni366 – 385DisorderedSequence analysisAdd BLAST20
Regioni394 – 437DisorderedSequence analysisAdd BLAST44
Regioni635 – 691DisorderedSequence analysisAdd BLAST57

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi163 – 177Basic and acidic residuesSequence analysisAdd BLAST15
Compositional biasi395 – 411Pro residuesSequence analysisAdd BLAST17
Compositional biasi417 – 435Polar residuesSequence analysisAdd BLAST19

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0490, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00650000093445

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_034811_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O60393

Identification of Orthologs from Complete Genome Data

More...
OMAi
PIYGVCG

Database of Orthologous Groups

More...
OrthoDBi
729946at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O60393

TreeFam database of animal gene trees

More...
TreeFami
TF337576

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00086, homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009057, Homeobox-like_sf
IPR001356, Homeobox_dom
IPR042988, NOBOX

The PANTHER Classification System

More...
PANTHERi
PTHR47060, PTHR47060, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00046, Homeodomain, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00389, HOX, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50071, HOMEOBOX_2, 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.<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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60393-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MALLLTLTSP DLEGTWDTRD KDGFKAQEGP PLAVPEFPVC GLYRIYGVCG
60 70 80 90 100
SFSSFFIIRC SLCALETLKS PQHDPLEIPE QSLKLIPLVS GKRELTRGQK
110 120 130 140 150
AGEKPLAAGP GEEELLRGSA PHAQDTQSEE LPPSCTISGE KKPPAVSGEA
160 170 180 190 200
TGADAGRLCP PPRSRAPHKD RTLARSRPQT QGEDCSLPVG EVKIGKRSYS
210 220 230 240 250
PAPGKQKKPN AMGLAPTSSP GAPNSARATH NPVPCGSGRG PCHLANLLST
260 270 280 290 300
LAQSNQNRDH KQGPPEVTCQ IRKKTRTLYR SDQLEELEKI FQEDHYPDSD
310 320 330 340 350
KRREIAQTVG VTPQRIMVKG AGSLVAGWSG GGPTIETLEL QSERSAVAWV
360 370 380 390 400
WFQNRRAKWR KMEKLNGKES KDNPAAPGPA SSQCSSAAEI LPAVPMEPKP
410 420 430 440 450
DPFPQESPLD TFPEPPMLLT SDQTLAPTQP SEGAQRVVTP PLFSPPPVRR
460 470 480 490 500
ADLPFPLGPV HTPQLMPLLM DVAGSDSSHK DGPCGSWGTS ITLPPPCSYL
510 520 530 540 550
EELEPQDYQQ SNQPGPFQFS QAPQPPLFQS PQPKLPYLPT FPFSMPSSLT
560 570 580 590 600
LPPPEDSLFM FPCGPSGGTS QGYCPGASSG QILMQPPAGN IGTASWSDPC
610 620 630 640 650
LPELPFPGPF CPQALGHPPG GDGYFPDLFP TPCPQALGRQ PSSALSWMPE
660 670 680 690
GARPGTGPLL SKAKEEPPAA SLDQPSALEE ARGDDKNSHV P
Length:691
Mass (Da):73,906
Last modified:May 5, 2009 - v4
<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:i02ED17B02018A89C
GO
Isoform 2 (identifier: O60393-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     318-349: Missing.

Show »
Length:659
Mass (Da):70,709
Checksum:i7D9A27F0A837EB6D
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y683A0A2R8Y683_HUMAN
Homeobox protein NOBOX
NOBOX
300Annotation score:

Annotation score:2 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>
A0A2R8Y8C8A0A2R8Y8C8_HUMAN
Homeobox protein NOBOX
NOBOX
574Annotation score:

Annotation score:2 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>
A0A2R8YEW3A0A2R8YEW3_HUMAN
Homeobox protein NOBOX
NOBOX
691Annotation score:

Annotation score:2 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>
A0A2R8Y4G1A0A2R8Y4G1_HUMAN
Homeobox protein NOBOX
NOBOX
574Annotation score:

Annotation score:2 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 AAC12957 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07829144R → L No effect on transactivation activity; not statistically significant decrease of nuclear location. 2 PublicationsCorresponds to variant dbSNP:rs115206969EnsemblClinVar.1
Natural variantiVAR_06601391G → W in POF5; unknown pathological significance; decreased transactivation activity; decreased nuclear location; intranuclear and cytosolic aggregates. 3 PublicationsCorresponds to variant dbSNP:rs77587352EnsemblClinVar.1
Natural variantiVAR_078292111G → R in POF5; unknown pathological significance; loss of transactivation activity; intranuclear and cytosolic aggregates; not statistically significant decrease of nuclear location. 2 PublicationsCorresponds to variant dbSNP:rs571490209Ensembl.1
Natural variantiVAR_061266117R → W in POF5; unknown pathological significance; decreased transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs7800847EnsemblClinVar.1
Natural variantiVAR_078293152G → R in POF5; unknown pathological significance; decreased nuclear location; intranuclear and cytosolic aggregates. 1 PublicationCorresponds to variant dbSNP:rs201806397EnsemblClinVar.1
Natural variantiVAR_066014342S → T in POF5. 1 PublicationCorresponds to variant dbSNP:rs193303103EnsemblClinVar.1
Natural variantiVAR_066015350V → L in POF5. 1 PublicationCorresponds to variant dbSNP:rs193303104EnsemblClinVar.1
Natural variantiVAR_036636355R → H in POF5. 1 PublicationCorresponds to variant dbSNP:rs201947677EnsemblClinVar.1
Natural variantiVAR_036637360R → Q1 PublicationCorresponds to variant dbSNP:rs199538689EnsemblClinVar.1
Natural variantiVAR_078294371K → T in POF5; unknown pathological significance; decreased transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs189306575Ensembl.1
Natural variantiVAR_078295449 – 691Missing in POF5; unknown pathological significance; not statistically significant decrease of nuclear location. 1 PublicationAdd BLAST243
Natural variantiVAR_036638452D → N in POF5; likely benign variant; decreased nuclear location; intranuclear and cytosolic aggregates. 2 PublicationsCorresponds to variant dbSNP:rs112190116EnsemblClinVar.1
Natural variantiVAR_036639482G → S1 PublicationCorresponds to variant dbSNP:rs2525702EnsemblClinVar.1
Natural variantiVAR_036640517F → L1 PublicationCorresponds to variant dbSNP:rs2699503EnsemblClinVar.1
Natural variantiVAR_078296619P → L No effect on transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs146227301EnsemblClinVar.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_028796318 – 349Missing in isoform 2. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AC004534 Genomic DNA Translation: AAC12957.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47736.2 [O60393-1]

NCBI Reference Sequences

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RefSeqi
NP_001073882.3, NM_001080413.3 [O60393-1]
XP_016867231.1, XM_017011742.1 [O60393-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000467773; ENSP00000419457; ENSG00000106410
ENST00000483238; ENSP00000419565; ENSG00000106410 [O60393-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
135935

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:135935

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

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MANE-Selecti
ENST00000467773.1; ENSP00000419457.1; NM_001080413.3; NP_001073882.3

UCSC genome browser

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UCSCi
uc022aoj.1, human [O60393-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AC004534 Genomic DNA Translation: AAC12957.1 Sequence problems.
CCDSiCCDS47736.2 [O60393-1]
RefSeqiNP_001073882.3, NM_001080413.3 [O60393-1]
XP_016867231.1, XM_017011742.1 [O60393-2]

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

BioGRIDi126440, 5 interactors
STRINGi9606.ENSP00000419457

PTM databases

GlyGeniO60393, 1 site, 1 O-linked glycan (1 site)
iPTMnetiO60393
PhosphoSitePlusiO60393

Genetic variation databases

BioMutaiNOBOX

Proteomic databases

jPOSTiO60393
MassIVEiO60393
PaxDbiO60393
PeptideAtlasiO60393
PRIDEiO60393
ProteomicsDBi49389 [O60393-1]
49390 [O60393-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
32735, 139 antibodies from 19 providers

The DNASU plasmid repository

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DNASUi
135935

Genome annotation databases

EnsembliENST00000467773; ENSP00000419457; ENSG00000106410
ENST00000483238; ENSP00000419565; ENSG00000106410 [O60393-2]
GeneIDi135935
KEGGihsa:135935
MANE-SelectiENST00000467773.1; ENSP00000419457.1; NM_001080413.3; NP_001073882.3
UCSCiuc022aoj.1, human [O60393-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
135935
DisGeNETi135935

GeneCards: human genes, protein and diseases

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GeneCardsi
NOBOX
HGNCiHGNC:22448, NOBOX
HPAiENSG00000106410, Not detected
MalaCardsiNOBOX
MIMi610934, gene
611548, phenotype
neXtProtiNX_O60393
OpenTargetsiENSG00000106410
Orphaneti619, NON RARE IN EUROPE: Primary ovarian failure
VEuPathDBiHostDB:ENSG00000106410

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0490, Eukaryota
GeneTreeiENSGT00650000093445
HOGENOMiCLU_034811_2_0_1
InParanoidiO60393
OMAiPIYGVCG
OrthoDBi729946at2759
PhylomeDBiO60393
TreeFamiTF337576

Enzyme and pathway databases

PathwayCommonsiO60393

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
135935, 2 hits in 258 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NOBOX

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

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GenomeRNAii
135935
PharosiO60393, Tbio

Protein Ontology

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PROi
PR:O60393
RNActiO60393, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106410, Expressed in testis and 11 other tissues
ExpressionAtlasiO60393, baseline and differential
GenevisibleiO60393, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR001356, Homeobox_dom
IPR042988, NOBOX
PANTHERiPTHR47060, PTHR47060, 1 hit
PfamiView protein in Pfam
PF00046, Homeodomain, 1 hit
SMARTiView protein in SMART
SM00389, HOX, 1 hit
SUPFAMiSSF46689, SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS50071, HOMEOBOX_2, 1 hit

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 nameiNOBOX_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: O60393
Secondary accession number(s): A6NCD3, A8MZN5
<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: December 12, 2006
Last sequence update: May 5, 2009
Last modified: February 23, 2022
This is version 154 of the entry and version 4 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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