IYD

Protein identityUniProt · HPA

UniProt accession

Q6PHW0

Gene

IYD

Ensembl

ENSG00000009765

Chromosome

6

Canonical length

289 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins

Subcellular location

Plasma membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

289 residues, UniProt reviewed canonical sequence.

>Q6PHW0|IYD
     1  MYFLTPILVA ILCILVVWIF KNADRSMEKK KGEPRTRAEA RPWVDEDLKD SSDLHQAEED
    61  ADEWQESEEN VEHIPFSHNH YPEKEMVKRS QEFYELLNKR RSVRFISNEQ VPMEVIDNVI
   121  RTAGTAPSGA HTEPWTFVVV KDPDVKHKIR KIIEEEEEIN YMKRMGHRWV TDLKKLRTNW
   181  IKEYLDTAPI LILIFKQVHG FAANGKKKVH YYNEISVSIA CGILLAALQN AGLVTVTTTP
   241  LNCGPRLRVL LGRPAHEKLL MLLPVGYPSK EATVPDLKRK PLDQIMVTV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IYD 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

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

442 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IYD.

Disease | AllUniProt

Conditions IYD is implicated in, by any mechanism.

• Thyroid dyshormonogenesis 4 (TDH4) MIM:274800

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 110 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Iodotyrosine deiodination defect
• IYD-related disorder

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)

0.88

gnomAD pLI

0

gnomAD missense Z

0.24

DepMap mean gene effect

0.03

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

• thyroid hormone metabolic process
• tyrosine metabolic process

Molecular functions

• FMN binding
• oxidoreductase activity
• iodotyrosine deiodinase activity

Cellular components

• cytoplasmic vesicle membrane
• nucleoplasm
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Nitroreductase-like
• Nitroreductase
• Nitroreductase/BluB
• Nitroreductase family

KeywordsUniProt

• Cell membrane
• Congenital hypothyroidism
• Cytoplasmic vesicle
• Flavoprotein
• FMN
• Membrane
• NADP
• Oxidoreductase
• Transmembrane
• Transmembrane helix