Seroatlas · Human Serome Atlas

GTF2I

General transcription factor II-I

Also known as: BAP-135, BTKAP1, DIWS, GTF2I_HUMAN, IB291, SPIN, TFII-I, WBSCR6

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

Protein identityUniProt · HPA

UniProt accession: P78347
Gene: GTF2I
Ensembl: ENSG00000263001
Chromosome: 7
Canonical length: 998 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

998 residues, UniProt reviewed canonical sequence.

>P78347|GTF2I
     1  MAQVAMSTLP VEDEESSESR MVVTFLMSAL ESMCKELAKS KAEVACIAVY ETDVFVVGTE
    61  RGRAFVNTRK DFQKDFVKYC VEEEEKAAEM HKMKSTTQAN RMSVDAVEIE TLRKTVEDYF
   121  CFCYGKALGK STVVPVPYEK MLRDQSAVVV QGLPEGVAFK HPENYDLATL KWILENKAGI
   181  SFIIKRPFLE PKKHVGGRVM VTDADRSILS PGGSCGPIKV KTEPTEDSGI SLEMAAVTVK
   241  EESEDPDYYQ YNIQAGPSET DDVDEKQPLS KPLQGSHHSS EGNEGTEMEV PAEDSTQHVP
   301  SETSEDPEVE VTIEDDDYSP PSKRPKANEL PQPPVPEPAN AGKRKVREFN FEKWNARITD
   361  LRKQVEELFE RKYAQAIKAK GPVTIPYPLF QSHVEDLYVE GLPEGIPFRR PSTYGIPRLE
   421  RILLAKERIR FVIKKHELLN STREDLQLDK PASGVKEEWY ARITKLRKMV DQLFCKKFAE
   481  ALGSTEAKAV PYQKFEAHPN DLYVEGLPEN IPFRSPSWYG IPRLEKIIQV GNRIKFVIKR
   541  PELLTHSTTE VTQPRTNTPV KEDWNVRITK LRKQVEEIFN LKFAQALGLT EAVKVPYPVF
   601  ESNPEFLYVE GLPEGIPFRS PTWFGIPRLE RIVRGSNKIK FVVKKPELVI SYLPPGMASK
   661  INTKALQSPK RPRSPGSNSK VPEIEVTVEG PNNNNPQTSA VRTPTQTNGS NVPFKPRGRE
   721  FSFEAWNAKI TDLKQKVENL FNEKCGEALG LKQAVKVPFA LFESFPEDFY VEGLPEGVPF
   781  RRPSTFGIPR LEKILRNKAK IKFIIKKPEM FETAIKESTS SKSPPRKINS SPNVNTTASG
   841  VEDLNIIQVT IPDDDNERLS KVEKARQLRE QVNDLFSRKF GEAIGMGFPV KVPYRKITIN
   901  PGCVVVDGMP PGVSFKAPSY LEISSMRRIL DSAEFIKFTV IRPFPGLVIN NQLVDQSESE
   961  GPVIQESAEP SQLEVPATEE IKETDGSSQI KQEPDPTW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GTF2I 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): 0.46
Highest tissue expression: 111 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 111 nTPM
parathyroid gland: 103 nTPM
skeletal muscle: 79 nTPM
retina: 79 nTPM
adrenal gland: 72 nTPM
thymus: 68 nTPM

Single-cell type

proximal tubule cells: 326 nCPM
distal convoluted tubule cells: 320 nCPM
myonuclei: 315 nCPM
corticotrophs: 306 nCPM
loop of henle epithelial cells: 294 nCPM
choroid plexus epithelial cells: 292 nCPM

Immune cell

naive B-cell: 24 nTPM
plasmacytoid DC: 23 nTPM
memory B-cell: 22 nTPM
NK-cell: 22 nTPM
basophil: 20 nTPM
eosinophil: 18 nTPM

Brain region

choroid plexus: 187 nTPM
white matter: 142 nTPM
cerebellum: 125 nTPM
basal ganglia: 124 nTPM
thalamus: 122 nTPM
midbrain: 121 nTPM

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): 0.27
gnomAD pLI: 1
gnomAD missense Z: 3.08
DepMap mean gene effect: -0.05
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GTF2I 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 GTF2I as an antibody target. Whether an autoantibody or antibody against GTF2I could matter depends on whether native GTF2I is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GTF2I 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 GTF2I as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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