Details for: HMX1

Gene ID: 3166

Symbol: HMX1

Ensembl ID: ENSG00000215612

Description: H6 family homeobox 1

Associated with

  • Chromatin
    (GO:0000785)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna-binding transcription repressor activity, rna polymerase ii-specific
    (GO:0001227)
  • Dna binding
    (GO:0003677)
  • Negative regulation of dna-templated transcription
    (GO:0045892)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Nucleus
    (GO:0005634)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 3.96
    Marker Score: 2195
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.27
    Marker Score: 2287
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.98
    Marker Score: 2213
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.47
    Marker Score: 857.5
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.46
    Marker Score: 462
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.26
    Marker Score: 1767
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.24
    Marker Score: 1181
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.15
    Marker Score: 652
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.13
    Marker Score: 1370
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.12
    Marker Score: 1513
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.1
    Marker Score: 7304
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.02
    Marker Score: 297
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71810.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48038
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5354
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.86
    Marker Score: 1984
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.84
    Marker Score: 486
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.79
    Marker Score: 1289
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.74
    Marker Score: 1192
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.71
    Marker Score: 374
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.66
    Marker Score: 621
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.65
    Marker Score: 899
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.62
    Marker Score: 498
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.61
    Marker Score: 647.5
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.59
    Marker Score: 711
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.58
    Marker Score: 802
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.49
    Marker Score: 203
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.48
    Marker Score: 203
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 281.5
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.45
    Marker Score: 716
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.41
    Marker Score: 513
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.38
    Marker Score: 345
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.38
    Marker Score: 784.5
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.36
    Marker Score: 732
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.35
    Marker Score: 338
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.35
    Marker Score: 634
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.32
    Marker Score: 124
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.31
    Marker Score: 205
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.3
    Marker Score: 159
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.29
    Marker Score: 219
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.26
    Marker Score: 710
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.23
    Marker Score: 404
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.23
    Marker Score: 63
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.22
    Marker Score: 70
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.21
    Marker Score: 256
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.2
    Marker Score: 135
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.2
    Marker Score: 207
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.2
    Marker Score: 2681
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.2
    Marker Score: 153
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.2
    Marker Score: 58
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.18
    Marker Score: 747.5
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.18
    Marker Score: 508
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.17
    Marker Score: 98.5
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.17
    Marker Score: 38.5
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.17
    Marker Score: 60
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.15
    Marker Score: 36.5
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.14
    Marker Score: 118
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.14
    Marker Score: 282
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.13
    Marker Score: 130
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.13
    Marker Score: 38
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.13
    Marker Score: 34
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.13
    Marker Score: 40
  • Cell Name: S cone cell (CL0003050)
    Fold Change: 0.12
    Marker Score: 37.5
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.12
    Marker Score: 37.5
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.12
    Marker Score: 29
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.12
    Marker Score: 280
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.12
    Marker Score: 177.5
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.11
    Marker Score: 37.5
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.11
    Marker Score: 37.5
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.11
    Marker Score: 907
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.1
    Marker Score: 36.5
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.1
    Marker Score: 37.5
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.1
    Marker Score: 53
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.1
    Marker Score: 112
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.09
    Marker Score: 29
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.09
    Marker Score: 27
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.09
    Marker Score: 213
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.09
    Marker Score: 156.5
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.09
    Marker Score: 38.5
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.09
    Marker Score: 32
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.08
    Marker Score: 27
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.08
    Marker Score: 38.5
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.08
    Marker Score: 33
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.08
    Marker Score: 26
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.08
    Marker Score: 40.5
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.08
    Marker Score: 24
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.08
    Marker Score: 236
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.07
    Marker Score: 34
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.07
    Marker Score: 42
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.07
    Marker Score: 34.5
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.07
    Marker Score: 35
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.07
    Marker Score: 195

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Other Information

**Key characteristics:** - HMX1 is a transcription factor with a DNA-binding domain and a nuclear localization signal. - It is a key regulator of gene expression in various cell types. - HMX1 is a repressor of transcription, meaning it inhibits the binding of RNA polymerase to DNA and suppresses gene expression. - It is also an activator of transcription, as it promotes the binding of RNA polymerase to DNA and facilitates gene expression. **Pathways and functions:** - HMX1 is involved in regulating the expression of genes involved in cell cycle regulation, such as G1/S transition, cell cycle checkpoints, and apoptosis. - It is also involved in regulating the development and function of blood vessels, including the regulation of blood cell differentiation and migration. - HMX1 plays a role in the development and maintenance of the eye, including the regulation of lens development, ciliary function, and the maintenance of the blood-aqueous barrier. - It is also involved in the regulation of immune responses, as it is expressed in immune cells and regulates the expression of genes involved in immune cell development and function. **Clinical significance:** - Mutations in HMX1 have been linked to several human diseases, including cancer, developmental disorders, and immunodeficiency. - HMX1 inhibitors are being investigated as potential therapeutic agents for these diseases. **Additional notes:** - HMX1 is a highly conserved protein, with similar sequences found in organisms from yeast to humans. - It is a multi-functional protein, with different regions interacting with various transcription factors to regulate gene expression. - HMX1 is a key regulator of gene expression in many cell types, making it a potential therapeutic target for a variety of diseases.

Genular Protein ID: 2082835424

Symbol: HMX1_HUMAN

Name: Homeobox protein HMX1

UniProtKB Accession Codes:

Q9NP08

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1360670

Title: Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4.

PubMed ID: 1360670

DOI: 10.1073/pnas.89.23.11579

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 10206974

Title: Transcriptional antagonism between Hmx1 and Nkx2.5 for a shared DNA-binding site.

PubMed ID: 10206974

DOI: 10.1074/jbc.274.17.11635

PubMed ID: 18423520

Title: Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.

PubMed ID: 18423520

DOI: 10.1016/j.ajhg.2008.03.007

Sequence Information:

  • Length: 348
  • Mass: 36155
  • Checksum: 7B2AE7662699B15A
  • Sequence:
    • MPDELTEPGR ATPARASSFL IENLLAAEAK GAGRATQGDG SREDEEEDDD DPEDEDAEQA 
RRRRLQRRRQ LLAGTGPGGE ARARALLGPG ALGLGPRPPP GPGPPFALGC GGAARWYPRA 
HGGYGGGLSP DTSDRDSPET GEEMGRAEGA WPRGPGPGAV QREAAELAAR GPAAGTEEAS 
ELAEVPAAAG ETRGGVGVGG GRKKKTRTVF SRSQVFQLES TFDLKRYLSS AERAGLAASL 
QLTETQVKIW FQNRRNKWKR QLAAELEAAS LSPPGAQRLV RVPVLYHESP PAAAAAGPPA 
TLPFPLAPAA PAPPPPLLGF SGALAYPLAA FPAAASVPFL RAQMPGLV

Genular Protein ID: 933340411

Symbol: F1T0J4_HUMAN

Name: N/A

UniProtKB Accession Codes:

F1T0J4 F8W1B1

Database IDs:

Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 3 Ensembl 2 GO 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 21697133

Title: Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.

PubMed ID: 21697133

DOI: 10.1167/iovs.11-7479

Sequence Information:

  • Length: 190
  • Mass: 20011
  • Checksum: 99315075D5F560DC
  • Sequence:
    • MPDELTEPGR ATPARASSFL IENLLAAEAK GAGRATQGDG SREDEEEDDD DPEDEDAEQA 
RRRRLQRRRQ LLAGTGPGGE ARARALLGPG ALGLGPRPPP GPGPPFALGC GGAARWYPRA 
HGGYGGGLSP DSTQKITPQP VQCGEGQVTR ADKYKVNRSD SGSLWMAEEA AGTGWCSHNT 
VEPLSAWTPE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.