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Protein

Homeobox protein EMX1

Gene

EMX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi159 – 21860HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. brain morphogenesis Source: Ensembl
  2. cerebral cortex neuron differentiation Source: Ensembl
  3. cerebral cortex regionalization Source: Ensembl
  4. in utero embryonic development Source: Ensembl
  5. neuron projection extension Source: Ensembl
  6. post-embryonic development Source: Ensembl
  7. regulation of transcription, DNA-templated Source: InterPro
  8. response to drug Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein EMX1
Alternative name(s):
Empty spiracles homolog 1
Empty spiracles-like protein 1
Gene namesi
Name:EMX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:3340. EMX1.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation. Cytoplasm 1 Publication
Note: Might be shuttling between the nucleus and the cytoplasm.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. nucleus Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27777.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 257257Homeobox protein EMX1PRO_0000048866Add
BLAST

Proteomic databases

PaxDbiQ04741.
PRIDEiQ04741.

Expressioni

Tissue specificityi

Cerebral cortex.

Gene expression databases

BgeeiQ04741.
CleanExiHS_EMX1.
ExpressionAtlasiQ04741. baseline and differential.
GenevestigatoriQ04741.

Organism-specific databases

HPAiHPA006421.

Interactioni

Protein-protein interaction databases

BioGridi108331. 7 interactions.
STRINGi9606.ENSP00000258106.

Structurei

3D structure databases

ProteinModelPortaliQ04741.
SMRiQ04741. Positions 157-216.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the EMX homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG266219.
GeneTreeiENSGT00760000119254.
HOGENOMiHOG000247032.
HOVERGENiHBG005024.
InParanoidiQ04741.
KOiK09317.
PhylomeDBiQ04741.
TreeFamiTF317015.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. 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: Q04741-1) [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
MFQPAAKRGF TIESLVAKDG GTGGGTGGGG AGSHLLAAAA SEEPLRPTAL
60 70 80 90 100
NYPHPSAAEA AFVSGFPAAA AAGAGRSLYG GPELVFPEAM NHPALTVHPA
110 120 130 140 150
HQLGASPLQP PHSFFGAQHR DPLHFYPWVL RNRFFGHRFQ ASDVPQDGLL
160 170 180 190 200
LHGPFARKPK RIRTAFSPSQ LLRLERAFEK NHYVVGAERK QLAGSLSLSE
210 220 230 240 250
TQVKVWFQNR RTKYKRQKLE EEGPESEQKK KGSHHINRWR IATKQANGED

IDVTSND
Length:257
Mass (Da):28,039
Last modified:January 4, 2005 - v2
Checksum:i127B0BE676F14B46
GO
Isoform 2 (identifier: Q04741-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-138: Missing.
     139-140: FQ → MV

Note: No experimental confirmation available.

Show »
Length:119
Mass (Da):13,725
Checksum:i38BE4315E2F30532
GO

Sequence cautioni

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 138138Missing in isoform 2. 1 PublicationVSP_022145Add
BLAST
Alternative sequencei139 – 1402FQ → MV in isoform 2. 1 PublicationVSP_022146

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC012366 Genomic DNA. Translation: AAY14744.1.
BC037242 mRNA. Translation: AAH37242.1.
BC045762 mRNA. Translation: AAH45762.2. Different initiation.
X68879 mRNA. Translation: CAA48750.1.
PIRiS22721.
RefSeqiNP_004088.2. NM_004097.2.
UniGeneiHs.516090.

Genome annotation databases

EnsembliENST00000258106; ENSP00000258106; ENSG00000135638.
GeneIDi2016.
KEGGihsa:2016.
UCSCiuc002sin.1. human. [Q04741-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC012366 Genomic DNA. Translation: AAY14744.1.
BC037242 mRNA. Translation: AAH37242.1.
BC045762 mRNA. Translation: AAH45762.2. Different initiation.
X68879 mRNA. Translation: CAA48750.1.
PIRiS22721.
RefSeqiNP_004088.2. NM_004097.2.
UniGeneiHs.516090.

3D structure databases

ProteinModelPortaliQ04741.
SMRiQ04741. Positions 157-216.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108331. 7 interactions.
STRINGi9606.ENSP00000258106.

Proteomic databases

PaxDbiQ04741.
PRIDEiQ04741.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258106; ENSP00000258106; ENSG00000135638.
GeneIDi2016.
KEGGihsa:2016.
UCSCiuc002sin.1. human. [Q04741-1]

Organism-specific databases

CTDi2016.
GeneCardsiGC02P073148.
HGNCiHGNC:3340. EMX1.
HPAiHPA006421.
MIMi600034. gene.
neXtProtiNX_Q04741.
PharmGKBiPA27777.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG266219.
GeneTreeiENSGT00760000119254.
HOGENOMiHOG000247032.
HOVERGENiHBG005024.
InParanoidiQ04741.
KOiK09317.
PhylomeDBiQ04741.
TreeFamiTF317015.

Miscellaneous databases

ChiTaRSiEMX1. human.
GeneWikiiEMX1.
GenomeRNAii2016.
NextBioi8167.
PROiQ04741.
SOURCEiSearch...

Gene expression databases

BgeeiQ04741.
CleanExiHS_EMX1.
ExpressionAtlasiQ04741. baseline and differential.
GenevestigatoriQ04741.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiEMX1_HUMAN
AccessioniPrimary (citable) accession number: Q04741
Secondary accession number(s): Q0D2P0, Q53T30, Q86XB0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: January 4, 2005
Last modified: January 7, 2015
This is version 126 of the entry and version 2 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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.