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P50219

- MNX1_HUMAN

UniProt

P50219 - MNX1_HUMAN

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Protein

Motor neuron and pancreas homeobox protein 1

Gene

MNX1

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

Functioni

Putative transcription factor involved in pancreas development and function.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi241 – 30060HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. diaphragm development Source: Ensembl
  3. dorsal/ventral neural tube patterning Source: Ensembl
  4. endocrine pancreas development Source: Ensembl
  5. humoral immune response Source: ProtInc
  6. motor neuron axon guidance Source: Ensembl
  7. nerve development Source: Ensembl
  8. neuron migration Source: Ensembl
  9. post-embryonic development Source: Ensembl
  10. regulation of transcription from RNA polymerase II promoter Source: ProtInc
  11. spinal cord motor neuron cell fate specification Source: Ensembl
  12. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Motor neuron and pancreas homeobox protein 1
Alternative name(s):
Homeobox protein HB9
Gene namesi
Name:MNX1
Synonyms:HLXB9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:4979. MNX1.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Currarino syndrome (CURRAS) [MIM:176450]: The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti243 – 2431R → W in CURRAS. 1 Publication
VAR_068473
Natural varianti245 – 2451R → G in CURRAS. 1 Publication
VAR_017874
Natural varianti245 – 2451R → H in CURRAS. 1 Publication
VAR_017875
Natural varianti246 – 2461T → S in CURRAS. 1 Publication
VAR_017876
Natural varianti288 – 2881W → G in CURRAS. 2 Publications
VAR_017877
Natural varianti288 – 2881W → L in CURRAS. 1 Publication
VAR_017878
Natural varianti289 – 2891F → S in CURRAS. 1 Publication
VAR_068474
Natural varianti290 – 2901Q → P in CURRAS. 1 Publication
VAR_017879
Natural varianti292 – 2921R → W in CURRAS. 1 Publication
VAR_017880
Natural varianti293 – 2931R → Q in CURRAS. 1 Publication
VAR_017881
Natural varianti293 – 2931R → W in CURRAS. 1 Publication
VAR_017882

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi176450. phenotype.
Orphaneti1552. Currarino triad.
PharmGKBiPA162396041.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 401401Motor neuron and pancreas homeobox protein 1PRO_0000048905Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP50219.
PaxDbiP50219.
PRIDEiP50219.

PTM databases

PhosphoSiteiP50219.

Expressioni

Tissue specificityi

Expressed in lymphoid and pancreatic tissues.

Gene expression databases

BgeeiP50219.
CleanExiHS_MNX1.
ExpressionAtlasiP50219. baseline and differential.
GenevestigatoriP50219.

Interactioni

Protein-protein interaction databases

BioGridi109355. 1 interaction.
STRINGi9606.ENSP00000252971.

Structurei

3D structure databases

ProteinModelPortaliP50219.
SMRiP50219. Positions 239-300.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi35 – 384Poly-Ala
Compositional biasi40 – 4910Poly-Gly
Compositional biasi98 – 11215Poly-GlyAdd
BLAST
Compositional biasi121 – 13414Poly-AlaAdd
BLAST
Compositional biasi168 – 1769Poly-Ala
Compositional biasi315 – 32410Poly-Gly

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG322049.
GeneTreeiENSGT00760000119211.
HOGENOMiHOG000234345.
HOVERGENiHBG051910.
InParanoidiP50219.
KOiK08025.
OrthoDBiEOG7VHT0H.
PhylomeDBiP50219.
TreeFamiTF351530.

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: P50219-1) [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
MEKSKNFRID ALLAVDPPRA ASAQSAPLAL VTSLAAAASG TGGGGGGGGA
60 70 80 90 100
SGGTSGSCSP ASSEPPAAPA DRLRAESPSP PRLLAAHCAL LPKPGFLGAG
110 120 130 140 150
GGGGGTGGGH GGPHHHAHPG AAAAAAAAAA AAAAGGLALG LHPGGAQGGA
160 170 180 190 200
GLPAQAALYG HPVYGYSAAA AAAALAGQHP ALSYSYPQVQ GAHPAHPADP
210 220 230 240 250
IKLGAGTFQL DQWLRASTAG MILPKMPDFN SQAQSNLLGK CRRPRTAFTS
260 270 280 290 300
QQLLELEHQF KLNKYLSRPK RFEVATSLML TETQVKIWFQ NRRMKWKRSK
310 320 330 340 350
KAKEQAAQEA EKQKGGGGGA GKGGAEEPGA EELLGPPAPG DKGSGRRLRD
360 370 380 390 400
LRDSDPEEDE DEDDEDHFPY SNGASVHAAS SDCSSEDDSP PPRPSHQPAP

Q
Length:401
Mass (Da):40,569
Last modified:September 22, 2009 - v3
Checksum:i67527C8F789DFFDB
GO
Isoform 2 (identifier: P50219-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-212: Missing.
     213-231: WLRASTAGMILPKMPDFNS → MGGLSTVGACPGILGAQQA

Note: Gene prediction based on EST data.

Show »
Length:189
Mass (Da):20,553
Checksum:iF227EEDC4874B856
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti10 – 3728DALLA…SLAAA → EPCWRWTPHEPPLAERALAK VTSPPVP in AAB60647. (PubMed:7914194)CuratedAdd
BLAST
Sequence conflicti121 – 1211A → AAA in AAB60647. (PubMed:7914194)Curated
Sequence conflicti121 – 1211A → ARA in AAD41467. (PubMed:10329000)Curated
Sequence conflicti262 – 2621L → F in AAB60647. (PubMed:7914194)Curated
Sequence conflicti340 – 3401G → R in AAB60647. (PubMed:7914194)Curated
Sequence conflicti346 – 3494RRLR → PPA in AAB60647. (PubMed:7914194)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti243 – 2431R → W in CURRAS. 1 Publication
VAR_068473
Natural varianti245 – 2451R → G in CURRAS. 1 Publication
VAR_017874
Natural varianti245 – 2451R → H in CURRAS. 1 Publication
VAR_017875
Natural varianti246 – 2461T → S in CURRAS. 1 Publication
VAR_017876
Natural varianti288 – 2881W → G in CURRAS. 2 Publications
VAR_017877
Natural varianti288 – 2881W → L in CURRAS. 1 Publication
VAR_017878
Natural varianti289 – 2891F → S in CURRAS. 1 Publication
VAR_068474
Natural varianti290 – 2901Q → P in CURRAS. 1 Publication
VAR_017879
Natural varianti292 – 2921R → W in CURRAS. 1 Publication
VAR_017880
Natural varianti293 – 2931R → Q in CURRAS. 1 Publication
VAR_017881
Natural varianti293 – 2931R → W in CURRAS. 1 Publication
VAR_017882

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 212212Missing in isoform 2. CuratedVSP_046773Add
BLAST
Alternative sequencei213 – 23119WLRAS…PDFNS → MGGLSTVGACPGILGAQQA in isoform 2. CuratedVSP_046774Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U07664, U07663 Genomic DNA. Translation: AAB60647.1.
AC006357 Genomic DNA. No translation available.
AH007909 Genomic DNA. Translation: AAD41467.1.
CCDSiCCDS34788.1. [P50219-1]
CCDS55187.1. [P50219-2]
RefSeqiNP_001158727.1. NM_001165255.1. [P50219-2]
NP_005506.3. NM_005515.3. [P50219-1]
UniGeneiHs.37035.

Genome annotation databases

EnsembliENST00000252971; ENSP00000252971; ENSG00000130675. [P50219-1]
ENST00000543409; ENSP00000438552; ENSG00000130675. [P50219-2]
GeneIDi3110.
KEGGihsa:3110.
UCSCiuc003wna.3. human. [P50219-1]

Polymorphism databases

DMDMi259016336.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U07664 , U07663 Genomic DNA. Translation: AAB60647.1 .
AC006357 Genomic DNA. No translation available.
AH007909 Genomic DNA. Translation: AAD41467.1 .
CCDSi CCDS34788.1. [P50219-1 ]
CCDS55187.1. [P50219-2 ]
RefSeqi NP_001158727.1. NM_001165255.1. [P50219-2 ]
NP_005506.3. NM_005515.3. [P50219-1 ]
UniGenei Hs.37035.

3D structure databases

ProteinModelPortali P50219.
SMRi P50219. Positions 239-300.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109355. 1 interaction.
STRINGi 9606.ENSP00000252971.

PTM databases

PhosphoSitei P50219.

Polymorphism databases

DMDMi 259016336.

Proteomic databases

MaxQBi P50219.
PaxDbi P50219.
PRIDEi P50219.

Protocols and materials databases

DNASUi 3110.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252971 ; ENSP00000252971 ; ENSG00000130675 . [P50219-1 ]
ENST00000543409 ; ENSP00000438552 ; ENSG00000130675 . [P50219-2 ]
GeneIDi 3110.
KEGGi hsa:3110.
UCSCi uc003wna.3. human. [P50219-1 ]

Organism-specific databases

CTDi 3110.
GeneCardsi GC07M156786.
H-InvDB HIX0033536.
HGNCi HGNC:4979. MNX1.
MIMi 142994. gene.
176450. phenotype.
neXtProti NX_P50219.
Orphaneti 1552. Currarino triad.
PharmGKBi PA162396041.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG322049.
GeneTreei ENSGT00760000119211.
HOGENOMi HOG000234345.
HOVERGENi HBG051910.
InParanoidi P50219.
KOi K08025.
OrthoDBi EOG7VHT0H.
PhylomeDBi P50219.
TreeFami TF351530.

Miscellaneous databases

GeneWikii MNX1.
GenomeRNAii 3110.
NextBioi 12341.
PROi P50219.
SOURCEi Search...

Gene expression databases

Bgeei P50219.
CleanExi HS_MNX1.
ExpressionAtlasi P50219. baseline and differential.
Genevestigatori P50219.

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. "A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues."
    Harrison K.A., Druey K.M., Deguchi Y., Tuscano J.M., Kehrl J.H.
    J. Biol. Chem. 269:19968-19975(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    Tissue: Placenta.
  2. "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.
    , 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].
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-353 (ISOFORM 1).
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: VARIANTS CURRAS SER-246 AND TRP-293.
  7. Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.
  8. Cited for: VARIANTS CURRAS TRP-243 AND GLY-288.
  9. "Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype."
    Markljung E., Adamovic T., Cao J., Naji H., Kaiser S., Wester T., Nordenskjold A.
    Gene 507:50-53(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CURRAS SER-289.

Entry informationi

Entry nameiMNX1_HUMAN
AccessioniPrimary (citable) accession number: P50219
Secondary accession number(s): F5H401, Q9Y648
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: September 22, 2009
Last modified: October 29, 2014
This is version 126 of the entry and version 3 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3