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Protein

Homeobox protein MIXL1

Gene

MIXL1

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

Functioni

Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm formation. Required for efficient differentiation of cells from the primitive streak stage to blood, by acting early in the recruitment and/or expansion of mesodermal progenitors to the hemangioblastic and hematopoietic lineages. Also involved in the morphogenesis of the heart and the gut during embryogenesis. Acts as a negative regulator of brachyury expression (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi86 – 145HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • protein homodimerization activity Source: BHF-UCL
  • proximal promoter sequence-specific DNA binding Source: BHF-UCL
  • RNA polymerase II distal enhancer sequence-specific DNA binding Source: BHF-UCL
  • RNA polymerase II proximal promoter sequence-specific DNA binding Source: BHF-UCL
  • RNA polymerase II repressing transcription factor binding Source: BHF-UCL
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
  • RNA polymerase II transcription factor binding Source: BHF-UCL
  • transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding Source: BHF-UCL
  • transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: BHF-UCL
  • transcriptional activator activity, RNA polymerase II transcription factor binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein MIXL1
Alternative name(s):
Homeodomain protein MIX
Short name:
hMix
MIX1 homeobox-like protein 1
Mix.1 homeobox-like protein
Gene namesi
Name:MIXL1
Synonyms:MIXL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000185155.11
HGNCiHGNC:13363 MIXL1
MIMi609852 gene
neXtProtiNX_Q9H2W2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi83881
OpenTargetsiENSG00000185155
PharmGKBiPA134976348

Polymorphism and mutation databases

DMDMi74762734

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003113331 – 232Homeobox protein MIXL1Add BLAST232

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei20Phosphotyrosine1 Publication1

Post-translational modificationi

Phosphorylated at multiple sites.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9H2W2
PeptideAtlasiQ9H2W2
PRIDEiQ9H2W2

PTM databases

iPTMnetiQ9H2W2
PhosphoSitePlusiQ9H2W2

Expressioni

Tissue specificityi

Restricted to progenitors and secondary lymph tissues. In normal hematopoiesis, it is restricted to immature B- and T-lymphoid cells. Present in differentiating embryonic stem cells (at protein level).3 Publications

Gene expression databases

BgeeiENSG00000185155
CleanExiHS_MIXL1
ExpressionAtlasiQ9H2W2 baseline and differential
GenevisibleiQ9H2W2 HS

Organism-specific databases

HPAiHPA005662

Interactioni

GO - Molecular functioni

  • protein homodimerization activity Source: BHF-UCL
  • RNA polymerase II repressing transcription factor binding Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: BHF-UCL

Protein-protein interaction databases

IntActiQ9H2W2, 1 interactor
STRINGi9606.ENSP00000355775

Structurei

3D structure databases

ProteinModelPortaliQ9H2W2
SMRiQ9H2W2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi31 – 76Pro-richAdd BLAST46

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0849 Eukaryota
ENOG410XS01 LUCA
GeneTreeiENSGT00860000133740
HOGENOMiHOG000113594
HOVERGENiHBG106595
InParanoidiQ9H2W2
OMAiTMYPDIH
OrthoDBiEOG091G15I5
PhylomeDBiQ9H2W2
TreeFamiTF334098

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H2W2-1) [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
MATAESRALQ FAEGAAFPAY RAPHAGGALL PPPSPAAALL PAPPAGPGPA
60 70 80 90 100
TFAGFLGRDP GPAPPPPASL GSPAPPKGAA APSASQRRKR TSFSAEQLQL
110 120 130 140 150
LELVFRRTRY PDIHLRERLA ALTLLPESRI QVWFQNRRAK SRRQSGKSFQ
160 170 180 190 200
PLARPEIILN HCAPGTETKC LKPQLPLEVD VNCLPEPNGV GGGISDSSSQ
210 220 230
GQNFETCSPL SEDIGSKLDS WEEHIFSAFG NF
Length:232
Mass (Da):24,659
Last modified:March 1, 2001 - v1
Checksum:i2E8A6A811799A8F0
GO
Isoform 2 (identifier: Q9H2W2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     130-130: I → IQLLFSPLF

Note: No experimental confirmation available.
Show »
Length:240
Mass (Da):25,605
Checksum:i47F48C68689B0045
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054305130I → IQLLFSPLF in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF211891 mRNA Translation: AAG35776.1
AF218357 Genomic DNA Translation: AAK01479.1
AL592045 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW69778.1
BC111974 mRNA Translation: AAI11975.1
BC113441 mRNA Translation: AAI13442.1
BC143784 mRNA Translation: AAI43785.1
CCDSiCCDS1552.1 [Q9H2W2-1]
CCDS60432.1 [Q9H2W2-2]
RefSeqiNP_001269331.1, NM_001282402.1 [Q9H2W2-2]
NP_114150.1, NM_031944.2 [Q9H2W2-1]
UniGeneiHs.282079

Genome annotation databases

EnsembliENST00000366810; ENSP00000355775; ENSG00000185155 [Q9H2W2-1]
ENST00000542034; ENSP00000442439; ENSG00000185155 [Q9H2W2-2]
GeneIDi83881
KEGGihsa:83881
UCSCiuc010pvm.4 human [Q9H2W2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiMIXL1_HUMAN
AccessioniPrimary (citable) accession number: Q9H2W2
Secondary accession number(s): B7ZLF9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: March 1, 2001
Last modified: May 23, 2018
This is version 151 of the entry and version 1 of the sequence. See 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

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