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Protein

Homeobox protein HMX1

Gene

HMX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:G66-32670-MONOMER.
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

HGNCiHGNC:5017. HMX1.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0485. Eukaryota.
ENOG4111R8D. LUCA.
GeneTreeiENSGT00860000133665.
HOGENOMiHOG000171379.
HOVERGENiHBG031610.
InParanoidiQ9NP08.
KOiK09349.
PhylomeDBiQ9NP08.
TreeFamiTF320562.

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]

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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9NP08.
SMRiQ9NP08.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000383516.

PTM databases

iPTMnetiQ9NP08.
PhosphoSitePlusiQ9NP08.

Polymorphism and mutation databases

BioMutaiHMX1.
DMDMi259016250.

Proteomic databases

PaxDbiQ9NP08.
PeptideAtlasiQ9NP08.
PRIDEiQ9NP08.

Protocols and materials databases

DNASUi3166.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi3166.
DisGeNETi3166.
GeneCardsiHMX1.
H-InvDBHIX0031931.
HGNCiHGNC:5017. HMX1.
MalaCardsiHMX1.
MIMi142992. gene.
612109. phenotype.
neXtProtiNX_Q9NP08.
OpenTargetsiENSG00000215612.
Orphaneti157962. Oculoauricular syndrome, Schorderet type.
PharmGKBiPA29344.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0485. Eukaryota.
ENOG4111R8D. LUCA.
GeneTreeiENSGT00860000133665.
HOGENOMiHOG000171379.
HOVERGENiHBG031610.
InParanoidiQ9NP08.
KOiK09349.
PhylomeDBiQ9NP08.
TreeFamiTF320562.

Enzyme and pathway databases

BioCyciZFISH:G66-32670-MONOMER.
SignaLinkiQ9NP08.

Miscellaneous databases

GenomeRNAii3166.
PROiQ9NP08.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000215612.
CleanExiHS_HMX1.
ExpressionAtlasiQ9NP08. baseline and differential.
GenevisibleiQ9NP08. HS.

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...

Entry informationi

Entry nameiHMX1_HUMAN
AccessioniPrimary (citable) accession number: Q9NP08
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: September 22, 2009
Last modified: November 30, 2016
This is version 114 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 4
    Human chromosome 4: 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

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 one 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.