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Q04741 (EMX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | 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 EMX1
Alternative name(s):
Empty spiracles homolog 1
Empty spiracles-like protein 1
Gene names
Name:EMX1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length257 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system.

Subcellular location

Nucleus. Cytoplasm. Note: Might be shuttling between the nucleus and the cytoplasm. Ref.4

Tissue specificity

Cerebral cortex.

Sequence similarities

Belongs to the EMX homeobox family.

Contains 1 homeobox DNA-binding domain.

Sequence caution

The sequence AAH45762.2 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q04741-1)

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: Q04741-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-138: Missing.
     139-140: FQ → MV
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 257257Homeobox protein EMX1
PRO_0000048866

Regions

DNA binding159 – 21860Homeobox

Natural variations

Alternative sequence1 – 138138Missing in isoform 2.
VSP_022145
Alternative sequence139 – 1402FQ → MV in isoform 2.
VSP_022146

Sequences

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

Last modified January 4, 2005. Version 2.
Checksum: 127B0BE676F14B46

FASTA25728,039
        10         20         30         40         50         60 
MFQPAAKRGF TIESLVAKDG GTGGGTGGGG AGSHLLAAAA SEEPLRPTAL NYPHPSAAEA 

        70         80         90        100        110        120 
AFVSGFPAAA AAGAGRSLYG GPELVFPEAM NHPALTVHPA HQLGASPLQP PHSFFGAQHR 

       130        140        150        160        170        180 
DPLHFYPWVL RNRFFGHRFQ ASDVPQDGLL LHGPFARKPK RIRTAFSPSQ LLRLERAFEK 

       190        200        210        220        230        240 
NHYVVGAERK QLAGSLSLSE TQVKVWFQNR RTKYKRQKLE EEGPESEQKK KGSHHINRWR 

       250 
IATKQANGED IDVTSND 

« Hide

Isoform 2 [UniParc].

Checksum: 38BE4315E2F30532
Show »

FASTA11913,725

References

« Hide 'large scale' references
[1]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain.
[3]"Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex."
Simeone A., Gulisano M., Acampora D., Stornaiuolo A., Rambaldi M., Boncinelli E.
EMBO J. 11:2541-2550(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 105-257.
[4]"WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome."
Kim H.G., Ahn J.W., Kurth I., Ullmann R., Kim H.T., Kulharya A., Ha K.S., Itokawa Y., Meliciani I., Wenzel W., Lee D., Rosenberger G., Ozata M., Bick D.P., Sherins R.J., Nagase T., Tekin M., Kim S.H. expand/collapse author list , Kim C.H., Ropers H.H., Gusella J.F., Kalscheuer V., Choi C.Y., Layman L.C.
Am. J. Hum. Genet. 87:465-479(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH WRD11.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC012366 Genomic DNA. Translation: AAY14744.1.
BC037242 mRNA. Translation: AAH37242.1.
BC045762 mRNA. Translation: AAH45762.2. Different initiation.
X68879 mRNA. Translation: CAA48750.1.
PIRS22721.
RefSeqNP_004088.2. NM_004097.2.
UniGeneHs.516090.

3D structure databases

ProteinModelPortalQ04741.
SMRQ04741. Positions 157-216.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108331. 7 interactions.
STRING9606.ENSP00000258106.

Proteomic databases

PaxDbQ04741.
PRIDEQ04741.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258106; ENSP00000258106; ENSG00000135638.
GeneID2016.
KEGGhsa:2016.
UCSCuc002sin.1. human. [Q04741-1]

Organism-specific databases

CTD2016.
GeneCardsGC02P073148.
HGNCHGNC:3340. EMX1.
HPAHPA006421.
MIM600034. gene.
neXtProtNX_Q04741.
PharmGKBPA27777.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG266219.
HOGENOMHOG000247032.
HOVERGENHBG005024.
InParanoidQ04741.
KOK09317.
PhylomeDBQ04741.
TreeFamTF317015.

Gene expression databases

ArrayExpressQ04741.
BgeeQ04741.
CleanExHS_EMX1.
GenevestigatorQ04741.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSEMX1. human.
GeneWikiEMX1.
GenomeRNAi2016.
NextBio8167.
PROQ04741.
SOURCESearch...

Entry information

Entry nameEMX1_HUMAN
AccessionPrimary (citable) accession number: Q04741
Secondary accession number(s): Q0D2P0, Q53T30, Q86XB0
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: January 4, 2005
Last modified: April 16, 2014
This is version 122 of the entry and version 2 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 chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM