NR6A1

Protein identityUniProt · HPA

UniProt accession

Q15406

Gene

NR6A1

Ensembl

ENSG00000148200

Chromosome

9

Canonical length

480 aa

Protein class

Nuclear receptors, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Centrosome,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]

Canonical amino-acid sequenceUniProt

480 residues, UniProt reviewed canonical sequence.

>Q15406|NR6A1
     1  MERDEPPPSG GGGGGGSAGF LEPPAALPPP PRNGFCQDEL AELDPGTISV SDDRAEQRTC
    61  LICGDRATGL HYGIISCEGC KGFFKRSICN KRVYRCSRDK NCVMSRKQRN RCQYCRLLKC
   121  LQMGMNRKAI REDGMPGGRN KSIGPVQISE EEIERIMSGQ EFEEEANHWS NHGDSDHSSP
   181  GNRASESNQP SPGSTLSSSR SVELNGFMAF REQYMGMSVP PHYQYIPHLF SYSGHSPLLP
   241  QQARSLDPQS YSLIHQLLSA EDLEPLGTPM LIEDGYAVTQ AELFALLCRL ADELLFRQIA
   301  WIKKLPFFCE LSIKDYTCLL SSTWQELILL SSLTVYSKQI FGELADVTAK YSPSDEELHR
   361  FSDEGMEVIE RLIYLYHKFH QLKVSNEEYA CMKAINFLNQ DIRGLTSASQ LEQLNKRYWY
   421  ICQDFTEYKY THQPNRFPDL MMCLPEIRYI AGKMVNVPLE QLPLLFKVVL HSCKTSVGKE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NR6A1 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)

0.4

Highest tissue expression

21 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NR6A1.

Disease | AllUniProt

Conditions NR6A1 is implicated in, by any mechanism.

• Oculovertebral syndrome (OVS) MIM:621277

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 87 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Oculovertebral syndrome
• Isolated anophthalmia-microphthalmia syndrome

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)

0.31

gnomAD pLI

0.98

gnomAD missense Z

1.83

DepMap mean gene effect

0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• gamete generation
• negative regulation of transcription by RNA polymerase II
• positive regulation of mesenchymal stem cell differentiation
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity
• estrogen response element binding
• nuclear receptor activity
• protein homodimerization activity
• sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• zinc ion binding

Cellular components

• chromatin
• nucleoplasm
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Nuclear hormone receptor, ligand-binding domain
• Zinc finger, nuclear hormone receptor-type
• Nuclear hormone receptor
• Zinc finger, NHR/GATA-type
• Nuclear hormone receptor-like domain superfamily
• Nuclear hormone receptor family NR3 subfamily
• Ligand-binding domain of nuclear hormone receptor
• Double treble clef zinc finger, C4 type

KeywordsUniProt

• DNA-binding
• Metal-binding
• Microphthalmia
• Nucleus
• Receptor
• Transcription
• Transcription regulation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of NR6A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• UIMC1