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Protein

Homeobox protein HMX1

Gene

HMX1

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

Functioni

DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi203 – 262HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

  • multicellular organism development Source: UniProtKB-KW
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiQ9NP08

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein HMX1
Alternative name(s):
Homeobox protein H6
Gene namesi
Name:HMX1
Synonyms:H6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000215612.6
HGNCiHGNC:5017 HMX1
MIMi142992 gene
neXtProtiNX_Q9NP08

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

Involvement in diseasei

Oculoauricular syndrome (OCACS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear.
See also OMIM:612109

Keywords - Diseasei

Cataract, Microphthalmia

Organism-specific databases

DisGeNETi3166
MalaCardsiHMX1
MIMi612109 phenotype
OpenTargetsiENSG00000215612
Orphaneti157962 Oculoauricular syndrome, Schorderet type
PharmGKBiPA29344

Polymorphism and mutation databases

BioMutaiHMX1
DMDMi259016250

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002784531 – 348Homeobox protein HMX1Add BLAST348

Proteomic databases

PaxDbiQ9NP08
PeptideAtlasiQ9NP08
PRIDEiQ9NP08

PTM databases

iPTMnetiQ9NP08
PhosphoSitePlusiQ9NP08

Expressioni

Gene expression databases

BgeeiENSG00000215612
CleanExiHS_HMX1
ExpressionAtlasiQ9NP08 baseline and differential
GenevisibleiQ9NP08 HS

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000383516

Structurei

3D structure databases

ProteinModelPortaliQ9NP08
SMRiQ9NP08
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi263 – 273HMX family specific domain 1Add BLAST11
Motifi276 – 289HMX family specific domain 2Add BLAST14

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi48 – 51Poly-Asp4
Compositional biasi61 – 64Poly-Arg4
Compositional biasi273 – 316Pro-richAdd BLAST44

Sequence similaritiesi

Belongs to the HMX homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0485 Eukaryota
ENOG4111R8D LUCA
GeneTreeiENSGT00910000144003
HOGENOMiHOG000171379
HOVERGENiHBG031610
InParanoidiQ9NP08
KOiK09349
OMAiVLYHESP
PhylomeDBiQ9NP08
TreeFamiTF320562

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
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

Sequencei

Sequence statusi: Complete.

Q9NP08-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPDELTEPGR ATPARASSFL IENLLAAEAK GAGRATQGDG SREDEEEDDD
60 70 80 90 100
DPEDEDAEQA RRRRLQRRRQ LLAGTGPGGE ARARALLGPG ALGLGPRPPP
110 120 130 140 150
GPGPPFALGC GGAARWYPRA HGGYGGGLSP DTSDRDSPET GEEMGRAEGA
160 170 180 190 200
WPRGPGPGAV QREAAELAAR GPAAGTEEAS ELAEVPAAAG ETRGGVGVGG
210 220 230 240 250
GRKKKTRTVF SRSQVFQLES TFDLKRYLSS AERAGLAASL QLTETQVKIW
260 270 280 290 300
FQNRRNKWKR QLAAELEAAS LSPPGAQRLV RVPVLYHESP PAAAAAGPPA
310 320 330 340
TLPFPLAPAA PAPPPPLLGF SGALAYPLAA FPAAASVPFL RAQMPGLV
Length:348
Mass (Da):36,155
Last modified:September 22, 2009 - v2
Checksum:i7B2AE7662699B15A
GO

Sequence cautioni

The sequence AAF70205 differs from that shown. Reason: Frameshift at positions 35, 60, 84, 89, 157, 179 and 277.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti277Q → A in AAF70205 (PubMed:1360670).Curated1
Sequence conflicti308 – 310PAA → RR in AAF70205 (PubMed:1360670).Curated3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M99587 mRNA Translation: AAF70205.1 Frameshift.
AC116612 Genomic DNA No translation available.
CCDSiCCDS47018.1
PIRiA47234
RefSeqiNP_001293071.1, NM_001306142.1
NP_061815.2, NM_018942.2
UniGeneiHs.104134

Genome annotation databases

EnsembliENST00000400677; ENSP00000383516; ENSG00000215612
GeneIDi3166
KEGGihsa:3166
UCSCiuc003izz.2 human

Similar proteinsi

Entry informationi

Entry nameiHMX1_HUMAN
AccessioniPrimary (citable) accession number: Q9NP08
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: September 22, 2009
Last modified: May 23, 2018
This is version 124 of the entry and version 2 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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Main funding by: National Institutes of Health