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Entry version 184 (18 Sep 2019)
Sequence version 1 (01 Oct 1993)
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Protein

General transcription factor IIH subunit 1

Gene

GTF2H1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDNA damage, DNA repair, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-113418 Formation of the Early Elongation Complex
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167158 Formation of the HIV-1 Early Elongation Complex
R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
R-HSA-167161 HIV Transcription Initiation
R-HSA-167162 RNA Polymerase II HIV Promoter Escape
R-HSA-167172 Transcription of the HIV genome
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5696395 Formation of Incision Complex in GG-NER
R-HSA-5696400 Dual Incision in GG-NER
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-72086 mRNA Capping
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-73776 RNA Polymerase II Promoter Escape
R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-73863 RNA Polymerase I Transcription Termination
R-HSA-75953 RNA Polymerase II Transcription Initiation
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P32780

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
General transcription factor IIH subunit 1
Alternative name(s):
Basic transcription factor 2 62 kDa subunit
Short name:
BTF2 p62
General transcription factor IIH polypeptide 1
TFIIH basal transcription factor complex p62 subunit
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GTF2H1
Synonyms:BTF2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4655 GTF2H1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
189972 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P32780

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
2965

Open Targets

More...
OpenTargetsi
ENSG00000110768

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29041

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GTF2H1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
416727

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001192451 – 548General transcription factor IIH subunit 1Add BLAST548

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei240N6-acetyllysineBy similarity1
Modified residuei339PhosphoserineCombined sources1
Modified residuei357PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P32780

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P32780

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P32780

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P32780

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P32780

PeptideAtlas

More...
PeptideAtlasi
P32780

PRoteomics IDEntifications database

More...
PRIDEi
P32780

ProteomicsDB human proteome resource

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ProteomicsDBi
3810
54882 [P32780-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P32780

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P32780

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000110768 Expressed in 227 organ(s), highest expression level in amniotic fluid

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P32780 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P32780 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB004637
HPA046660

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the 7-subunit TFIIH core complex composed of XPB/ERCC3, XPD/ERCC2, GTF2H1, GTF2H2, GTF2H3, GTF2H4 and GTF2H5, which is active in NER. The core complex associates with the 3-subunit CDK-activating kinase (CAK) module composed of CCNH/cyclin H, CDK7 and MNAT1 to form the 10-subunit holoenzyme (holo-TFIIH) active in transcription.

Interacts with PUF60.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109220, 66 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P32780

Database of interacting proteins

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DIPi
DIP-708N

Protein interaction database and analysis system

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IntActi
P32780, 28 interactors

Molecular INTeraction database

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MINTi
P32780

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000265963

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1548
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P32780

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P32780

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini99 – 154BSD 1PROSITE-ProRule annotationAdd BLAST56
Domaini180 – 232BSD 2PROSITE-ProRule annotationAdd BLAST53

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TFB1 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2074 Eukaryota
ENOG410XRI6 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015066

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000006589

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P32780

KEGG Orthology (KO)

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KOi
K03141

Identification of Orthologs from Complete Genome Data

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OMAi
FWATHAK

Database of Orthologous Groups

More...
OrthoDBi
946128at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P32780

TreeFam database of animal gene trees

More...
TreeFami
TF314689

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR005607 BSD_dom
IPR011993 PH-like_dom_sf
IPR027079 Tfb1/GTF2H1
IPR013876 TFIIH_BTF_p62_N

The PANTHER Classification System

More...
PANTHERi
PTHR12856 PTHR12856, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03909 BSD, 1 hit
PF08567 PH_TFIIH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00751 BSD, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50858 BSD, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P32780-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATSSEEVLL IVKKVRQKKQ DGALYLMAER IAWAPEGKDR FTISHMYADI
60 70 80 90 100
KCQKISPEGK AKIQLQLVLH AGDTTNFHFS NESTAVKERD AVKDLLQQLL
110 120 130 140 150
PKFKRKANKE LEEKNRMLQE DPVLFQLYKD LVVSQVISAE EFWANRLNVN
160 170 180 190 200
ATDSSSTSNH KQDVGISAAF LADVRPQTDG CNGLRYNLTS DIIESIFRTY
210 220 230 240 250
PAVKMKYAEN VPHNMTEKEF WTRFFQSHYF HRDRLNTGSK DLFAECAKID
260 270 280 290 300
EKGLKTMVSL GVKNPLLDLT ALEDKPLDEG YGISSVPSAS NSKSIKENSN
310 320 330 340 350
AAIIKRFNHH SAMVLAAGLR KQEAQNEQTS EPSNMDGNSG DADCFQPAVK
360 370 380 390 400
RAKLQESIEY EDLGKNNSVK TIALNLKKSD RYYHGPTPIQ SLQYATSQDI
410 420 430 440 450
INSFQSIRQE MEAYTPKLTQ VLSSSAASST ITALSPGGAL MQGGTQQAIN
460 470 480 490 500
QMVPNDIQSE LKHLYVAVGE LLRHFWSCFP VNTPFLEEKV VKMKSNLERF
510 520 530 540
QVTKLCPFQE KIRRQYLSTN LVSHIEEMLQ TAYNKLHTWQ SRRLMKKT
Length:548
Mass (Da):62,032
Last modified:October 1, 1993 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8F0FCEBBB1FC9C1D
GO
Isoform 2 (identifier: P32780-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-116: Missing.

Note: No experimental confirmation available.
Show »
Length:432
Mass (Da):48,738
Checksum:i894C7C56EF0407DE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PI26E9PI26_HUMAN
General transcription factor IIH su...
GTF2H1
181Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PM51E9PM51_HUMAN
General transcription factor IIH su...
GTF2H1
236Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PL58E9PL58_HUMAN
General transcription factor IIH su...
GTF2H1
95Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H0Y9F5H0Y9_HUMAN
General transcription factor IIH su...
GTF2H1
138Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti292S → P in BAB15621 (PubMed:14702039).Curated1
Sequence conflicti385G → A in BAB15621 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_014345234R → W1 PublicationCorresponds to variant dbSNP:rs4150603Ensembl.1
Natural variantiVAR_014346285S → F1 PublicationCorresponds to variant dbSNP:rs4150636Ensembl.1
Natural variantiVAR_014347517L → V1 PublicationCorresponds to variant dbSNP:rs4150665Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0565621 – 116Missing in isoform 2. 1 PublicationAdd BLAST116

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M95809 mRNA Translation: AAA58399.1
AK027003 mRNA Translation: BAB15621.1
AK127204 mRNA Translation: BAG54452.1
AY163770 Genomic DNA Translation: AAN46740.1
CR457368 mRNA Translation: CAG33649.1
AC084117 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68399.1
CH471064 Genomic DNA Translation: EAW68400.1
CH471064 Genomic DNA Translation: EAW68401.1
BC000365 mRNA Translation: AAH00365.1
BC004452 mRNA Translation: AAH04452.1
AJ131959 Genomic DNA Translation: CAC00685.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS7838.1 [P32780-1]

Protein sequence database of the Protein Information Resource

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PIRi
S27958

NCBI Reference Sequences

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RefSeqi
NP_001135779.1, NM_001142307.1 [P32780-1]
NP_005307.1, NM_005316.3 [P32780-1]
XP_006718271.1, XM_006718208.3 [P32780-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000265963; ENSP00000265963; ENSG00000110768 [P32780-1]
ENST00000453096; ENSP00000393638; ENSG00000110768 [P32780-1]
ENST00000534641; ENSP00000435375; ENSG00000110768 [P32780-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2965

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2965

UCSC genome browser

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UCSCi
uc001moh.3 human [P32780-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M95809 mRNA Translation: AAA58399.1
AK027003 mRNA Translation: BAB15621.1
AK127204 mRNA Translation: BAG54452.1
AY163770 Genomic DNA Translation: AAN46740.1
CR457368 mRNA Translation: CAG33649.1
AC084117 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68399.1
CH471064 Genomic DNA Translation: EAW68400.1
CH471064 Genomic DNA Translation: EAW68401.1
BC000365 mRNA Translation: AAH00365.1
BC004452 mRNA Translation: AAH04452.1
AJ131959 Genomic DNA Translation: CAC00685.1
CCDSiCCDS7838.1 [P32780-1]
PIRiS27958
RefSeqiNP_001135779.1, NM_001142307.1 [P32780-1]
NP_005307.1, NM_005316.3 [P32780-1]
XP_006718271.1, XM_006718208.3 [P32780-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1PFJNMR-A1-108[»]
2DIINMR-A103-150[»]
2RNRNMR-B1-108[»]
2RUKNMR-B1-108[»]
2RVBNMR-B1-108[»]
5GOWNMR-B1-108[»]
5XV8NMR-B2-108[»]
6NMIelectron microscopy3.70C1-539[»]
6O9Lelectron microscopy7.2011-548[»]
6O9Melectron microscopy4.4011-548[»]
SMRiP32780
ModBaseiSearch...

Protein-protein interaction databases

BioGridi109220, 66 interactors
CORUMiP32780
DIPiDIP-708N
IntActiP32780, 28 interactors
MINTiP32780
STRINGi9606.ENSP00000265963

PTM databases

iPTMnetiP32780
PhosphoSitePlusiP32780

Polymorphism and mutation databases

BioMutaiGTF2H1
DMDMi416727

Proteomic databases

EPDiP32780
jPOSTiP32780
MassIVEiP32780
MaxQBiP32780
PaxDbiP32780
PeptideAtlasiP32780
PRIDEiP32780
ProteomicsDBi3810
54882 [P32780-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
2965
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265963; ENSP00000265963; ENSG00000110768 [P32780-1]
ENST00000453096; ENSP00000393638; ENSG00000110768 [P32780-1]
ENST00000534641; ENSP00000435375; ENSG00000110768 [P32780-2]
GeneIDi2965
KEGGihsa:2965
UCSCiuc001moh.3 human [P32780-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2965
DisGeNETi2965

GeneCards: human genes, protein and diseases

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GeneCardsi
GTF2H1
HGNCiHGNC:4655 GTF2H1
HPAiCAB004637
HPA046660
MIMi189972 gene
neXtProtiNX_P32780
OpenTargetsiENSG00000110768
PharmGKBiPA29041

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2074 Eukaryota
ENOG410XRI6 LUCA
GeneTreeiENSGT00390000015066
HOGENOMiHOG000006589
InParanoidiP32780
KOiK03141
OMAiFWATHAK
OrthoDBi946128at2759
PhylomeDBiP32780
TreeFamiTF314689

Enzyme and pathway databases

ReactomeiR-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-113418 Formation of the Early Elongation Complex
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167158 Formation of the HIV-1 Early Elongation Complex
R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
R-HSA-167161 HIV Transcription Initiation
R-HSA-167162 RNA Polymerase II HIV Promoter Escape
R-HSA-167172 Transcription of the HIV genome
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5696395 Formation of Incision Complex in GG-NER
R-HSA-5696400 Dual Incision in GG-NER
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-72086 mRNA Capping
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-73776 RNA Polymerase II Promoter Escape
R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-73863 RNA Polymerase I Transcription Termination
R-HSA-75953 RNA Polymerase II Transcription Initiation
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE
SIGNORiP32780

Miscellaneous databases

EvolutionaryTraceiP32780

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GTF2H1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
2965

Pharos

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Pharosi
P32780

Protein Ontology

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PROi
PR:P32780

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000110768 Expressed in 227 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiP32780 baseline and differential
GenevisibleiP32780 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR005607 BSD_dom
IPR011993 PH-like_dom_sf
IPR027079 Tfb1/GTF2H1
IPR013876 TFIIH_BTF_p62_N
PANTHERiPTHR12856 PTHR12856, 1 hit
PfamiView protein in Pfam
PF03909 BSD, 1 hit
PF08567 PH_TFIIH, 1 hit
SMARTiView protein in SMART
SM00751 BSD, 2 hits
PROSITEiView protein in PROSITE
PS50858 BSD, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTF2H1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P32780
Secondary accession number(s): B3KXE0
, D3DQY2, Q6I9Y7, Q9H5K5, Q9NQD9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: September 18, 2019
This is version 184 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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