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Q04741

- EMX1_HUMAN

UniProt

Q04741 - EMX1_HUMAN

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Protein

Homeobox protein EMX1

Gene
EMX1
Organism
Homo sapiens (Human)
Status
Reviewed - 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 – 21860HomeoboxAdd
BLAST

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. sequence-specific DNA binding Source: InterPro
  3. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. brain morphogenesis Source: Ensembl
  2. cerebral cortex neuron differentiation Source: Ensembl
  3. cerebral cortex regionalization Source: Ensembl
  4. post-embryonic development Source: Ensembl
  5. 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. Cytoplasm
Note: Might be shuttling between the nucleus and the cytoplasm.1 Publication

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

ArrayExpressiQ04741.
BgeeiQ04741.
CleanExiHS_EMX1.
GenevestigatoriQ04741.

Organism-specific databases

HPAiHPA006421.

Interactioni

Protein-protein interaction databases

BioGridi108331. 7 interactions.
STRINGi9606.ENSP00000258106.

Structurei

3D structure databases

ProteinModelPortaliQ04741.
SMRiQ04741. Positions 157-216.

Family & Domainsi

Sequence similaritiesi

Belongs to the EMX homeobox family.

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG266219.
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

MFQPAAKRGF TIESLVAKDG GTGGGTGGGG AGSHLLAAAA SEEPLRPTAL    50
NYPHPSAAEA AFVSGFPAAA AAGAGRSLYG GPELVFPEAM NHPALTVHPA 100
HQLGASPLQP PHSFFGAQHR DPLHFYPWVL RNRFFGHRFQ ASDVPQDGLL 150
LHGPFARKPK RIRTAFSPSQ LLRLERAFEK NHYVVGAERK QLAGSLSLSE 200
TQVKVWFQNR RTKYKRQKLE EEGPESEQKK KGSHHINRWR IATKQANGED 250
IDVTSND 257
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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 138138Missing in isoform 2. VSP_022145Add
BLAST
Alternative sequencei139 – 1402FQ → MV in isoform 2. VSP_022146

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
PIRi S22721.
RefSeqi NP_004088.2. NM_004097.2.
UniGenei Hs.516090.

3D structure databases

ProteinModelPortali Q04741.
SMRi Q04741. Positions 157-216.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108331. 7 interactions.
STRINGi 9606.ENSP00000258106.

Proteomic databases

PaxDbi Q04741.
PRIDEi Q04741.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258106 ; ENSP00000258106 ; ENSG00000135638 .
GeneIDi 2016.
KEGGi hsa:2016.
UCSCi uc002sin.1. human. [Q04741-1 ]

Organism-specific databases

CTDi 2016.
GeneCardsi GC02P073148.
HGNCi HGNC:3340. EMX1.
HPAi HPA006421.
MIMi 600034. gene.
neXtProti NX_Q04741.
PharmGKBi PA27777.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG266219.
HOGENOMi HOG000247032.
HOVERGENi HBG005024.
InParanoidi Q04741.
KOi K09317.
PhylomeDBi Q04741.
TreeFami TF317015.

Miscellaneous databases

ChiTaRSi EMX1. human.
GeneWikii EMX1.
GenomeRNAii 2016.
NextBioi 8167.
PROi Q04741.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q04741.
Bgeei Q04741.
CleanExi HS_EMX1.
Genevestigatori Q04741.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: June 11, 2014
This is version 123 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

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