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Protein

Terminal nucleotidyltransferase 5A

Gene

TENT5A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable nucleotidyltransferase that may act as a non-canonical poly(A) RNA polymerase.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionNucleotidyltransferase, Transferase

Names & Taxonomyi

Protein namesi
Recommended name:
Terminal nucleotidyltransferase 5ACurated (EC:2.7.7.-1 Publication)
Alternative name(s):
HBV X-transactivated gene 11 protein1 Publication
HBV XAg-transactivated protein 111 Publication
Gene namesi
Name:TENT5AImported
Synonyms:C6orf37Imported, FAM46AImported, XTP111 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112773.15
HGNCiHGNC:18345 TENT5A
MIMi611357 gene
neXtProtiNX_Q96IP4

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 18 (OI18)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI18 is a severe form characterized by congenital bowing of the lower limb, wormian bones, blue sclerae, vertebral collapses and multiple fractures in the first years of life.
See also OMIM:617952
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080798127H → R in OI18; unknown pathological significance. 1 Publication1
Natural variantiVAR_080799231D → G in OI18; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Osteogenesis imperfecta

Organism-specific databases

DisGeNETi55603
MalaCardsiTENT5A
MIMi617952 phenotype
OpenTargetsiENSG00000112773
PharmGKBiPA38531

Polymorphism and mutation databases

BioMutaiFAM46A
DMDMi209572613

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002599291 – 442Terminal nucleotidyltransferase 5AAdd BLAST442

Proteomic databases

EPDiQ96IP4
MaxQBiQ96IP4
PaxDbiQ96IP4
PeptideAtlasiQ96IP4
PRIDEiQ96IP4
ProteomicsDBi76841
76842 [Q96IP4-2]

PTM databases

iPTMnetiQ96IP4
PhosphoSitePlusiQ96IP4

Expressioni

Tissue specificityi

Widely expressed, with preferential expression observed in the retina compared to other ocular tissues (PubMed:12054608). Also expressed in osteoblasts (PubMed:29358272).2 Publications

Gene expression databases

BgeeiENSG00000112773 Expressed in 220 organ(s), highest expression level in chorionic villus
CleanExiHS_FAM46A
ExpressionAtlasiQ96IP4 baseline and differential
GenevisibleiQ96IP4 HS

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi120744, 67 interactors
IntActiQ96IP4, 28 interactors
STRINGi9606.ENSP00000318298

Structurei

3D structure databases

ProteinModelPortaliQ96IP4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati24 – 2815
Repeati29 – 3325
Repeati34 – 3835
Repeati39 – 4345

Sequence similaritiesi

Belongs to the TENT family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3852 Eukaryota
ENOG410XTG4 LUCA
GeneTreeiENSGT00500000044785
HOGENOMiHOG000234733
HOVERGENiHBG057969
InParanoidiQ96IP4
PhylomeDBiQ96IP4
TreeFamiTF315239

Family and domain databases

InterProiView protein in InterPro
IPR012937 TET5
PANTHERiPTHR12974 PTHR12974, 1 hit
PfamiView protein in Pfam
PF07984 NTP_transf_7, 1 hit
SMARTiView protein in SMART
SM01153 DUF1693, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96IP4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MAEGEGYFAM SEDELACSPY IPLGGDFGGG DFGGGDFGGG DFGGGGSFGG
60 70 80 90 100
HCLDYCESPT AHCNVLNWEQ VQRLDGILSE TIPIHGRGNF PTLELQPSLI
110 120 130 140 150
VKVVRRRLAE KRIGVRDVRL NGSAASHVLH QDSGLGYKDL DLIFCADLRG
160 170 180 190 200
EGEFQTVKDV VLDCLLDFLP EGVNKEKITP LTLKEAYVQK MVKVCNDSDR
210 220 230 240 250
WSLISLSNNS GKNVELKFVD SLRRQFEFSV DSFQIKLDSL LLFYECSENP
260 270 280 290 300
MTETFHPTII GESVYGDFQE AFDHLCNKII ATRNPEEIRG GGLLKYCNLL
310 320 330 340 350
VRGFRPASDE IKTLQRYMCS RFFIDFSDIG EQQRKLESYL QNHFVGLEDR
360 370 380 390 400
KYEYLMTLHG VVNESTVCLM GHERRQTLNL ITMLAIRVLA DQNVIPNVAN
410 420 430 440
VTCYYQPAPY VADANFSNYY IAQVQPVFTC QQQTYSTWLP CN
Length:442
Mass (Da):49,666
Last modified:October 14, 2008 - v2
Checksum:iC72092C590C1E369
GO
Isoform 2 (identifier: Q96IP4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MHQRYFWTDQGQVALGGHYM

Show »
Length:461
Mass (Da):51,943
Checksum:i40DEE86DB396F61A
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5TF85Q5TF85_HUMAN
Family with sequence similarity 46,...
TENT5A FAM46A, hCG_401094
523Annotation score:
H0Y5Y3H0Y5Y3_HUMAN
Terminal nucleotidyltransferase 5A
TENT5A
88Annotation score:
H0Y6D7H0Y6D7_HUMAN
Terminal nucleotidyltransferase 5A
TENT5A
86Annotation score:

Sequence cautioni

The sequence AAH00683 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti47S → T in AAM53071 (PubMed:12054608).Curated1
Sequence conflicti145C → S in AAM53071 (PubMed:12054608).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04664924G → GGDFGG1 Publication1
Natural variantiVAR_02897839 – 43Missing 2 Publications5
Natural variantiVAR_080798127H → R in OI18; unknown pathological significance. 1 Publication1
Natural variantiVAR_080799231D → G in OI18; unknown pathological significance. 1 Publication1
Natural variantiVAR_028979313T → A2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0355021M → MHQRYFWTDQGQVALGGHYM in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF350451 mRNA Translation: AAM53071.1
AY740520 mRNA Translation: AAW66943.1
AK000044 mRNA Translation: BAA90903.1
AK056057 mRNA No translation available.
AK292109 mRNA Translation: BAF84798.1
AL078599 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48692.1
BC000683 mRNA Translation: AAH00683.1 Different initiation.
BC007351 mRNA Translation: AAH07351.1
CCDSiCCDS34489.1 [Q96IP4-1]
PIRiJC7837
RefSeqiNP_060103.2, NM_017633.2 [Q96IP4-1]
UniGeneiHs.10784

Genome annotation databases

EnsembliENST00000320172; ENSP00000318298; ENSG00000112773 [Q96IP4-1]
ENST00000369754; ENSP00000358769; ENSG00000112773 [Q96IP4-2]
GeneIDi55603
KEGGihsa:55603
UCSCiuc003pjf.3 human [Q96IP4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF350451 mRNA Translation: AAM53071.1
AY740520 mRNA Translation: AAW66943.1
AK000044 mRNA Translation: BAA90903.1
AK056057 mRNA No translation available.
AK292109 mRNA Translation: BAF84798.1
AL078599 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48692.1
BC000683 mRNA Translation: AAH00683.1 Different initiation.
BC007351 mRNA Translation: AAH07351.1
CCDSiCCDS34489.1 [Q96IP4-1]
PIRiJC7837
RefSeqiNP_060103.2, NM_017633.2 [Q96IP4-1]
UniGeneiHs.10784

3D structure databases

ProteinModelPortaliQ96IP4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120744, 67 interactors
IntActiQ96IP4, 28 interactors
STRINGi9606.ENSP00000318298

PTM databases

iPTMnetiQ96IP4
PhosphoSitePlusiQ96IP4

Polymorphism and mutation databases

BioMutaiFAM46A
DMDMi209572613

Proteomic databases

EPDiQ96IP4
MaxQBiQ96IP4
PaxDbiQ96IP4
PeptideAtlasiQ96IP4
PRIDEiQ96IP4
ProteomicsDBi76841
76842 [Q96IP4-2]

Protocols and materials databases

DNASUi55603
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320172; ENSP00000318298; ENSG00000112773 [Q96IP4-1]
ENST00000369754; ENSP00000358769; ENSG00000112773 [Q96IP4-2]
GeneIDi55603
KEGGihsa:55603
UCSCiuc003pjf.3 human [Q96IP4-1]

Organism-specific databases

CTDi55603
DisGeNETi55603
EuPathDBiHostDB:ENSG00000112773.15
GeneCardsiTENT5A
H-InvDBiHIX0006030
HGNCiHGNC:18345 TENT5A
MalaCardsiTENT5A
MIMi611357 gene
617952 phenotype
neXtProtiNX_Q96IP4
OpenTargetsiENSG00000112773
PharmGKBiPA38531
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3852 Eukaryota
ENOG410XTG4 LUCA
GeneTreeiENSGT00500000044785
HOGENOMiHOG000234733
HOVERGENiHBG057969
InParanoidiQ96IP4
PhylomeDBiQ96IP4
TreeFamiTF315239

Miscellaneous databases

ChiTaRSiFAM46A human
GeneWikiiFAM46A
GenomeRNAii55603
PROiPR:Q96IP4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112773 Expressed in 220 organ(s), highest expression level in chorionic villus
CleanExiHS_FAM46A
ExpressionAtlasiQ96IP4 baseline and differential
GenevisibleiQ96IP4 HS

Family and domain databases

InterProiView protein in InterPro
IPR012937 TET5
PANTHERiPTHR12974 PTHR12974, 1 hit
PfamiView protein in Pfam
PF07984 NTP_transf_7, 1 hit
SMARTiView protein in SMART
SM01153 DUF1693, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTET5A_HUMAN
AccessioniPrimary (citable) accession number: Q96IP4
Secondary accession number(s): A8K7U4
, Q5TF86, Q8NFZ9, Q9BW32, Q9NXV5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: October 14, 2008
Last modified: November 7, 2018
This is version 110 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

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