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O60393

- NOBOX_HUMAN

UniProt

O60393 - NOBOX_HUMAN

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Protein

Homeobox protein NOBOX

Gene

NOBOX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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' (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi272 – 36392HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl

GO - Biological processi

  1. oogenesis Source: UniProtKB-KW
  2. ovarian follicle development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Oogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein NOBOX
Gene namesi
Name:NOBOX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:22448. NOBOX.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Premature ovarian failure 5 (POF5) [MIM:611548]: An 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti91 – 911G → W in POF5. 1 Publication
Corresponds to variant rs77587352 [ dbSNP | Ensembl ].
VAR_066013
Natural varianti342 – 3421S → T in POF5. 1 Publication
VAR_066014
Natural varianti350 – 3501V → L in POF5. 1 Publication
VAR_066015
Natural varianti355 – 3551R → H in POF5. 1 Publication
VAR_036636

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

MIMi611548. phenotype.
Orphaneti619. Primary ovarian failure.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 691691Homeobox protein NOBOXPRO_0000268865Add
BLAST

Proteomic databases

PaxDbiO60393.
PRIDEiO60393.

PTM databases

PhosphoSiteiO60393.

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

BgeeiO60393.
CleanExiHS_NOBOX.
GenevestigatoriO60393.

Organism-specific databases

HPAiHPA047639.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000223140.

Structurei

3D structure databases

ProteinModelPortaliO60393.
SMRiO60393. Positions 274-363.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi392 – 668277Pro-richAdd
BLAST

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG325494.
GeneTreeiENSGT00650000093445.
HOGENOMiHOG000113810.
HOVERGENiHBG082039.
InParanoidiO60393.
OMAiPFPGPFC.
OrthoDBiEOG74J974.
PhylomeDBiO60393.
TreeFamiTF337576.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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 AAC12957.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti91 – 911G → W in POF5. 1 Publication
Corresponds to variant rs77587352 [ dbSNP | Ensembl ].
VAR_066013
Natural varianti117 – 1171R → W Found in a patient with premature ovarian failure. 1 Publication
Corresponds to variant rs7800847 [ dbSNP | Ensembl ].
VAR_061266
Natural varianti342 – 3421S → T in POF5. 1 Publication
VAR_066014
Natural varianti350 – 3501V → L in POF5. 1 Publication
VAR_066015
Natural varianti355 – 3551R → H in POF5. 1 Publication
VAR_036636
Natural varianti360 – 3601R → Q.1 Publication
VAR_036637
Natural varianti452 – 4521D → N.1 Publication
Corresponds to variant rs112190116 [ dbSNP | Ensembl ].
VAR_036638
Natural varianti482 – 4821G → S.1 Publication
Corresponds to variant rs2525702 [ dbSNP | Ensembl ].
VAR_036639
Natural varianti517 – 5171F → L.1 Publication
Corresponds to variant rs2699503 [ dbSNP | Ensembl ].
VAR_036640

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei318 – 34932Missing in isoform 2. 1 PublicationVSP_028796Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC004534 Genomic DNA. Translation: AAC12957.1. Sequence problems.
RefSeqiNP_001073882.3. NM_001080413.3. [O60393-1]
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC004534 Genomic DNA. Translation: AAC12957.1 . Sequence problems.
RefSeqi NP_001073882.3. NM_001080413.3. [O60393-1 ]
UniGenei Hs.558628.

3D structure databases

ProteinModelPortali O60393.
SMRi O60393. Positions 274-363.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000223140.

PTM databases

PhosphoSitei O60393.

Proteomic databases

PaxDbi O60393.
PRIDEi O60393.

Protocols and materials databases

DNASUi 135935.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000467773 ; ENSP00000419457 ; ENSG00000106410 . [O60393-1 ]
ENST00000483238 ; ENSP00000419565 ; ENSG00000106410 . [O60393-2 ]
GeneIDi 135935.
KEGGi hsa:135935.
UCSCi uc022aoj.1. human. [O60393-1 ]

Organism-specific databases

CTDi 135935.
GeneCardsi GC07M144094.
HGNCi HGNC:22448. NOBOX.
HPAi HPA047639.
MIMi 610934. gene.
611548. phenotype.
neXtProti NX_O60393.
Orphaneti 619. Primary ovarian failure.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG325494.
GeneTreei ENSGT00650000093445.
HOGENOMi HOG000113810.
HOVERGENi HBG082039.
InParanoidi O60393.
OMAi PFPGPFC.
OrthoDBi EOG74J974.
PhylomeDBi O60393.
TreeFami TF337576.

Miscellaneous databases

GeneWikii NOBOX.
GenomeRNAii 135935.
NextBioi 83522.
PROi O60393.
SOURCEi Search...

Gene expression databases

Bgeei O60393.
CleanExi HS_NOBOX.
Genevestigatori O60393.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles."
    Huntriss J., Hinkins M., Picton H.M.
    Mol. Hum. Reprod. 12:283-289(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 99-458 (ISOFORM 2), TISSUE SPECIFICITY.
  3. "NOBOX homeobox mutation causes premature ovarian failure."
    Qin Y., Choi Y., Zhao H., Simpson J.L., Chen Z.-J., Rajkovic A.
    Am. J. Hum. Genet. 81:576-581(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT POF5 HIS-355, VARIANTS GLN-360; ASN-452; SER-482 AND LEU-517.
  4. "Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort."
    Bouilly J., Bachelot A., Broutin I., Touraine P., Binart N.
    Hum. Mutat. 32:1108-1113(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS POF5 TRP-91; THR-342 AND LEU-350, VARIANT TRP-117.

Entry informationi

Entry nameiNOBOX_HUMAN
AccessioniPrimary (citable) accession number: O60393
Secondary accession number(s): A6NCD3, A8MZN5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: May 5, 2009
Last modified: October 29, 2014
This is version 106 of the entry and version 4 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3