HMX1

Protein identityUniProt · HPA

UniProt accession

Q9NP08

Gene

HMX1

Ensembl

ENSG00000215612

Chromosome

4

Canonical length

348 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

348 residues, UniProt reviewed canonical sequence.

>Q9NP08|HMX1
     1  MPDELTEPGR ATPARASSFL IENLLAAEAK GAGRATQGDG SREDEEEDDD DPEDEDAEQA
    61  RRRRLQRRRQ LLAGTGPGGE ARARALLGPG ALGLGPRPPP GPGPPFALGC GGAARWYPRA
   121  HGGYGGGLSP DTSDRDSPET GEEMGRAEGA WPRGPGPGAV QREAAELAAR GPAAGTEEAS
   181  ELAEVPAAAG ETRGGVGVGG GRKKKTRTVF SRSQVFQLES TFDLKRYLSS AERAGLAASL
   241  QLTETQVKIW FQNRRNKWKR QLAAELEAAS LSPPGAQRLV RVPVLYHESP PAAAAAGPPA
   301  TLPFPLAPAA PAPPPPLLGF SGALAYPLAA FPAAASVPFL RAQMPGLV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HMX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

2.2 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HMX1.

Disease | AllUniProt

Conditions HMX1 is implicated in, by any mechanism.

• Oculoauricular syndrome (OCACS) MIM:612109

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 387 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Oculoauricular syndrome
• Isolated microphthalmia 6

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.7

gnomAD pLI

0.73

gnomAD missense Z

-0.1

DepMap mean gene effect

0.09

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA binding
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain, metazoa
• HMX Homeobox Transcription Factors
• Homeodomain

KeywordsUniProt

• Cataract
• Developmental protein
• DNA-binding
• Homeobox
• Microphthalmia
• Nucleus
• Repressor
• Transcription
• Transcription regulation