DMBX1

Protein identityUniProt · HPA

UniProt accession

Q8NFW5

Gene

DMBX1

Ensembl

ENSG00000197587

Chromosome

1

Canonical length

382 aa

Protein class

Predicted intracellular proteins, Transcription factors

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

382 residues, UniProt reviewed canonical sequence.

>Q8NFW5|DMBX1
     1  MQHYGVNGYS LHAMNSLSAM YNLHQQAAQQ AQHAPDYRPS VHALTLAERL AGCTFQDIIL
    61  EARYGSQHRK QRRSRTAFTA QQLEALEKTF QKTHYPDVVM RERLAMCTNL PEARVQVWFK
   121  NRRAKFRKKQ RSLQKEQLQK QKEAEGSHGE GKAEAPTPDT QLDTEQPPRL PGSDPPAELH
   181  LSLSEQSASE SAPEDQPDRE EDPRAGAEDP KAEKSPGADS KGLGCKRGSP KADSPGSLTI
   241  TPVAPGGGLL GPSHSYSSSP LSLFRLQEQF RQHMAATNNL VHYSSFEVGG PAPAAAAAAA
   301  AVPYLGVNMA PLGSLHCQSY YQSLSAAAAA HQGVWGSPLL PAPPAGLAPA SATLNSKTTS
   361  IENLRLRAKQ HAASLGLDTL PN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DMBX1 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)

0.61

Highest tissue expression

0.9 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DMBX1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 62 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• 6 conditions

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)

0.37

gnomAD pLI

0.93

gnomAD missense Z

0.83

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult feeding behavior
• adult locomotory behavior
• brain development
• central nervous system development
• developmental growth
• negative regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II

Molecular functions

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

Cellular components

• chromatin
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• OAR domain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain
• OAR motif
• Diencephalon/mesencephalon homeobox

KeywordsUniProt

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