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Protein

Homeobox protein NOBOX

Gene

NOBOX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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
DNA bindingi272 – 363HomeoboxPROSITE-ProRule annotationAdd BLAST92

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Names & Taxonomyi

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

Organism-specific databases

EuPathDBiHostDB:ENSG00000106410.14.
HGNCiHGNC:22448. NOBOX.

Subcellular locationi

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Premature ovarian failure 5 (POF5)4 Publications
The disease is caused by mutations 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.
See also OMIM:611548
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06601391G → W in POF5; unknown pathological significance; decreased transactivation activity; decreased nuclear location; intranuclear and cytosolic aggregates. 3 PublicationsCorresponds to variant dbSNP:rs77587352Ensembl.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:rs7800847Ensembl.1
Natural variantiVAR_078293152G → R in POF5; unknown pathological significance; decreased nuclear location; intranuclear and cytosolic aggregates. 1 PublicationCorresponds to variant dbSNP:rs201806397Ensembl.1
Natural variantiVAR_066014342S → T in POF5. 1 PublicationCorresponds to variant dbSNP:rs193303103Ensembl.1
Natural variantiVAR_066015350V → L in POF5. 1 PublicationCorresponds to variant dbSNP:rs193303104Ensembl.1
Natural variantiVAR_036636355R → H in POF5. 1 PublicationCorresponds to variant dbSNP:rs201947677Ensembl.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; unknown pathological significance; decreased nuclear location; intranuclear and cytosolic aggregates. 2 PublicationsCorresponds to variant dbSNP:rs112190116Ensembl.1

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

DisGeNETi135935.
MalaCardsiNOBOX.
MIMi611548. phenotype.
OpenTargetsiENSG00000106410.
Orphaneti619. Primary ovarian failure.

Polymorphism and mutation databases

BioMutaiNOBOX.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002688651 – 691Homeobox protein NOBOXAdd BLAST691

Proteomic databases

PaxDbiO60393.
PeptideAtlasiO60393.
PRIDEiO60393.

PTM databases

iPTMnetiO60393.
PhosphoSitePlusiO60393.

Expressioni

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

BgeeiENSG00000106410.
CleanExiHS_NOBOX.
GenevisibleiO60393. HS.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000419457.

Structurei

3D structure databases

ProteinModelPortaliO60393.
SMRiO60393.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi392 – 668Pro-richAdd BLAST277

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00650000093445.
HOGENOMiHOG000113810.
HOVERGENiHBG082039.
InParanoidiO60393.
OMAiCLPELPF.
OrthoDBiEOG091G0ANP.
PhylomeDBiO60393.
TreeFamiTF337576.

Family and domain databases

CDDicd00086. homeodomain. 1 hit.
InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR001356. Homeobox_dom.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS50071. HOMEOBOX_2. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

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

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

« Hide

        10         20         30         40         50
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
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.

Note: No experimental confirmation available.
Show »
Length:659
Mass (Da):70,709
Checksum:i7D9A27F0A837EB6D
GO

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 Polymorphism; no effect on transactivation activity; not statistically significant decrease of nuclear location. 2 PublicationsCorresponds to variant dbSNP:rs115206969Ensembl.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:rs77587352Ensembl.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:rs7800847Ensembl.1
Natural variantiVAR_078293152G → R in POF5; unknown pathological significance; decreased nuclear location; intranuclear and cytosolic aggregates. 1 PublicationCorresponds to variant dbSNP:rs201806397Ensembl.1
Natural variantiVAR_066014342S → T in POF5. 1 PublicationCorresponds to variant dbSNP:rs193303103Ensembl.1
Natural variantiVAR_066015350V → L in POF5. 1 PublicationCorresponds to variant dbSNP:rs193303104Ensembl.1
Natural variantiVAR_036636355R → H in POF5. 1 PublicationCorresponds to variant dbSNP:rs201947677Ensembl.1
Natural variantiVAR_036637360R → Q1 PublicationCorresponds to variant dbSNP:rs199538689Ensembl.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; unknown pathological significance; decreased nuclear location; intranuclear and cytosolic aggregates. 2 PublicationsCorresponds to variant dbSNP:rs112190116Ensembl.1
Natural variantiVAR_036639482G → S1 PublicationCorresponds to variant dbSNP:rs2525702Ensembl.1
Natural variantiVAR_036640517F → L1 PublicationCorresponds to variant dbSNP:rs2699503Ensembl.1
Natural variantiVAR_078296619P → L Polymorphism; no effect on transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs146227301Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028796318 – 349Missing in isoform 2. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004534 Genomic DNA. Translation: AAC12957.1. Sequence problems.
RefSeqiNP_001073882.3. NM_001080413.3. [O60393-1]
XP_016867231.1. XM_017011742.1. [O60393-2]
UniGeneiHs.558628.

Genome annotation databases

EnsembliENST00000467773; ENSP00000419457; ENSG00000106410. [O60393-1]
ENST00000483238; ENSP00000419565; ENSG00000106410. [O60393-2]
GeneIDi135935.
KEGGihsa:135935.
UCSCiuc022aoj.1. human. [O60393-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNOBOX_HUMAN
AccessioniPrimary (citable) accession number: O60393
Secondary accession number(s): A6NCD3, A8MZN5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: May 5, 2009
Last modified: September 27, 2017
This is version 127 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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