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O60393 (NOBOX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein NOBOX
Gene names
Name:NOBOX
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length691 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus By similarity.

Tissue specificity

Expressed in ovaries, testes and pancreas. Expressed within all stages of the adult female germline, from primordial follicles through to MII oocytes. Ref.2

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.4

Sequence similarities

Contains 1 homeobox DNA-binding domain.

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60393-1)

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.
Isoform 2 (identifier: O60393-2)

The sequence of this isoform differs from the canonical sequence as follows:
     318-349: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 691691Homeobox protein NOBOX
PRO_0000268865

Regions

DNA binding272 – 36392Homeobox
Compositional bias392 – 668277Pro-rich

Natural variations

Alternative sequence318 – 34932Missing in isoform 2.
VSP_028796
Natural variant911G → W in POF5. Ref.4
Corresponds to variant rs77587352 [ dbSNP | Ensembl ].
VAR_066013
Natural variant1171R → W Found in a patient with premature ovarian failure. Ref.4
Corresponds to variant rs7800847 [ dbSNP | Ensembl ].
VAR_061266
Natural variant3421S → T in POF5. Ref.4
VAR_066014
Natural variant3501V → L in POF5. Ref.4
VAR_066015
Natural variant3551R → H in POF5. Ref.3
VAR_036636
Natural variant3601R → Q. Ref.3
VAR_036637
Natural variant4521D → N. Ref.3
Corresponds to variant rs112190116 [ dbSNP | Ensembl ].
VAR_036638
Natural variant4821G → S. Ref.3
Corresponds to variant rs2525702 [ dbSNP | Ensembl ].
VAR_036639
Natural variant5171F → L. Ref.3
Corresponds to variant rs2699503 [ dbSNP | Ensembl ].
VAR_036640

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 5, 2009. Version 4.
Checksum: 02ED17B02018A89C

FASTA69173,906
        10         20         30         40         50         60 
MALLLTLTSP DLEGTWDTRD KDGFKAQEGP PLAVPEFPVC GLYRIYGVCG SFSSFFIIRC 

        70         80         90        100        110        120 
SLCALETLKS PQHDPLEIPE QSLKLIPLVS GKRELTRGQK AGEKPLAAGP GEEELLRGSA 

       130        140        150        160        170        180 
PHAQDTQSEE LPPSCTISGE KKPPAVSGEA TGADAGRLCP PPRSRAPHKD RTLARSRPQT 

       190        200        210        220        230        240 
QGEDCSLPVG EVKIGKRSYS PAPGKQKKPN AMGLAPTSSP GAPNSARATH NPVPCGSGRG 

       250        260        270        280        290        300 
PCHLANLLST LAQSNQNRDH KQGPPEVTCQ IRKKTRTLYR SDQLEELEKI FQEDHYPDSD 

       310        320        330        340        350        360 
KRREIAQTVG VTPQRIMVKG AGSLVAGWSG GGPTIETLEL QSERSAVAWV WFQNRRAKWR 

       370        380        390        400        410        420 
KMEKLNGKES KDNPAAPGPA SSQCSSAAEI LPAVPMEPKP DPFPQESPLD TFPEPPMLLT 

       430        440        450        460        470        480 
SDQTLAPTQP SEGAQRVVTP PLFSPPPVRR ADLPFPLGPV HTPQLMPLLM DVAGSDSSHK 

       490        500        510        520        530        540 
DGPCGSWGTS ITLPPPCSYL EELEPQDYQQ SNQPGPFQFS QAPQPPLFQS PQPKLPYLPT 

       550        560        570        580        590        600 
FPFSMPSSLT LPPPEDSLFM FPCGPSGGTS QGYCPGASSG QILMQPPAGN IGTASWSDPC 

       610        620        630        640        650        660 
LPELPFPGPF CPQALGHPPG GDGYFPDLFP TPCPQALGRQ PSSALSWMPE GARPGTGPLL 

       670        680        690 
SKAKEEPPAA SLDQPSALEE ARGDDKNSHV P 

« Hide

Isoform 2 [UniParc].

Checksum: 7D9A27F0A837EB6D
Show »

FASTA65970,709

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC004534 Genomic DNA. Translation: AAC12957.1. Sequence problems.
RefSeqNP_001073882.3. NM_001080413.3.
UniGeneHs.558628.

3D structure databases

ProteinModelPortalO60393.
SMRO60393. Positions 239-363.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000223140.

PTM databases

PhosphoSiteO60393.

Proteomic databases

PaxDbO60393.
PRIDEO60393.

Protocols and materials databases

DNASU135935.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000467773; ENSP00000419457; ENSG00000106410. [O60393-1]
ENST00000483238; ENSP00000419565; ENSG00000106410. [O60393-2]
GeneID135935.
KEGGhsa:135935.
UCSCuc022aoj.1. human. [O60393-1]

Organism-specific databases

CTD135935.
GeneCardsGC07M144094.
HGNCHGNC:22448. NOBOX.
HPAHPA047639.
MIM610934. gene.
611548. phenotype.
neXtProtNX_O60393.
Orphanet619. Primary ovarian failure.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325494.
HOGENOMHOG000113810.
HOVERGENHBG082039.
OMAPFPGPFC.
OrthoDBEOG74J974.
PhylomeDBO60393.
TreeFamTF337576.

Gene expression databases

ArrayExpressO60393.
BgeeO60393.
CleanExHS_NOBOX.
GenevestigatorO60393.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNOBOX.
GenomeRNAi135935.
NextBio83522.
PROO60393.
SOURCESearch...

Entry information

Entry nameNOBOX_HUMAN
AccessionPrimary (citable) accession number: O60393
Secondary accession number(s): A6NCD3, A8MZN5
Entry history
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: May 5, 2009
Last modified: April 16, 2014
This is version 101 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM