Seroatlas · Human Serome Atlas

GTF2IRD1

General transcription factor II-I repeat domain-containing protein 1

Also known as: BEN, Cream1, GT2D1_HUMAN, GTF3, MusTRD1, RBAP2, WBSCR11, WBSCR12

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UHL9
Gene: GTF2IRD1
Ensembl: ENSG00000006704
Chromosome: 7
Canonical length: 959 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

Canonical amino-acid sequenceUniProt

959 residues, UniProt reviewed canonical sequence.

>Q9UHL9|GTF2IRD1
     1  MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
    61  SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE
   121  HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE
   181  YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP
   241  PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
   301  FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN
   361  SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH
   421  FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC
   481  GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD
   541  KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
   601  LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IMDSQGTASS
   661  LGFSPPALPP ERDSGDPLVD ESLKRQGFQE NYDARLSRID IANTLREQVQ DLFNKKYGEA
   721  LGIKYPVQVP YKRIKSNPGS VIIEGLPPGI PFRKPCTFGS QNLERILAVA DKIKFTVTRP
   781  FQGLIPKPDE DDANRLGEKV ILREQVKELF NEKYGEALGL NRPVLVPYKL IRDSPDAVEV
   841  TGLPDDIPFR NPNTYDIHRL EKILKAREHV RMVIINQLQP FAEICNDAKV PAKDSSIPKR
   901  KRKRVSEGNS VSSSSSSSSS SSSNPDSVAS ANQISLVQWP MYMVDYAGLN VQLPGPLNY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GTF2IRD1 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): 0.5
Highest tissue expression: 66 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 66 nTPM
retina: 34 nTPM
tongue: 28 nTPM
pituitary gland: 27 nTPM
esophagus: 26 nTPM
skin: 22 nTPM

Single-cell type

myonuclei: 690 nCPM
somatotrophs: 571 nCPM
renal connecting tubule cells: 420 nCPM
rod photoreceptor cells: 419 nCPM
thymic myoid cells: 347 nCPM
thyrotrophs: 342 nCPM

Immune cell

basophil: 0.3 nTPM
myeloid DC: 0.3 nTPM
neutrophil: 0.2 nTPM
eosinophil: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM
NK-cell: 0.1 nTPM

Brain region

choroid plexus: 31 nTPM
thalamus: 23 nTPM
white matter: 22 nTPM
medulla oblongata: 21 nTPM
pons: 20 nTPM
midbrain: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GTF2IRD1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 230 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Childhood-onset schizophrenia

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): 0.33
gnomAD pLI: 0.9
gnomAD missense Z: 2.66
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

negative regulation of transcription by RNA polymerase II
regulation of DNA-templated transcription
transcription by RNA polymerase II
transition between slow and fast fiber

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GTF2IRD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GTF2IRD1 as an antibody target. Whether an autoantibody or antibody against GTF2IRD1 could matter depends on whether native GTF2IRD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GTF2IRD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GTF2IRD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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