Q04741 (EMX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein EMX1

Alternative name(s):
Empty spiracles homolog 1
Empty spiracles-like protein 1

Gene names

Name:

EMX1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	257 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cerebral cortex regionalization Inferred from electronic annotation. Source: Compara multicellular organismal development Non-traceable author statement. Source: UniProtKB neuron differentiation Inferred from electronic annotation. Source: Compara post-embryonic development Inferred from electronic annotation. Source: Compara response to drug Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Non-traceable author statement. Source: UniProtKB
Molecular_function	DNA binding Non-traceable author statement. Source: UniProtKB sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 257	257	Homeobox protein EMX1		PRO_0000048866
Regions
	DNA binding	159 – 218	60	Homeobox
Natural variations
	Alternative sequence	1 – 138	138	Missing in isoform 2.		VSP_022145
	Alternative sequence	139 – 140	2	FQ → MV in isoform 2.		VSP_022146

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 4, 2005. Version 2. Checksum: 127B0BE676F14B46	FASTA	257	28,039
	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
	Isoform 2 [UniParc]. Checksum: 38BE4315E2F30532	FASTA	119	13,725
	10 20 30 40 50 60 MVASDVPQDG LLLHGPFARK PKRIRTAFSP SQLLRLERAF EKNHYVVGAE RKQLAGSLSL 70 80 90 100 110 SETQVKVWFQ NRRTKYKRQK LEEEGPESEQ KKKGSHHINR WRIATKQANG EDIDVTSND

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00374132. IPI00942065.
PIR	S22721.
RefSeq	NP_004088.2. NM_004097.2.
UniGene	Hs.516090.
3D structure databases
ProteinModelPortal	Q04741.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000258106.
Polymorphism databases
DMDM	57015304.
Proteomic databases
PaxDb	Q04741.
PRIDE	Q04741.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000258106; ENSP00000258106; ENSG00000135638.
GeneID	2016.
KEGG	hsa:2016.
UCSC	uc002sin.1. human.
Organism-specific databases
CTD	2016.
GeneCards	GC02P073144.
HGNC	HGNC:3340. EMX1.
HPA	HPA006421.
MIM	600034. gene.
neXtProt	NX_Q04741.
PharmGKB	PA27777.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG266219.
HOGENOM	HOG000247032.
HOVERGEN	HBG005024.
InParanoid	Q04741.
KO	K09317.
PhylomeDB	Q04741.
Gene expression databases
ArrayExpress	Q04741.
Bgee	Q04741.
CleanEx	HS_EMX1.
Genevestigator	Q04741.
GermOnline	ENSG00000135638. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	EMX1. human.
GenomeRNAi	2016.
NextBio	8167.
SOURCE	Search...

Entry information

Entry name

EMX1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 114 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.