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Protein

Interferon regulatory factor 6

Gene

IRF6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi7 – 115IRF tryptophan pentad repeatPROSITE-ProRule annotationAdd BLAST109

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117595-MONOMER.
ReactomeiR-HSA-877300. Interferon gamma signaling.
R-HSA-909733. Interferon alpha/beta signaling.

Names & Taxonomyi

Protein namesi
Recommended name:
Interferon regulatory factor 6
Short name:
IRF-6
Gene namesi
Name:IRF6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:6121. IRF6.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Van der Woude syndrome 1 (VWS1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
See also OMIM:119300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0149612A → V in VWS1. 2 PublicationsCorresponds to variant rs28942093dbSNPEnsembl.1
Natural variantiVAR_0300466R → C in VWS1. 1 PublicationCorresponds to variant rs28942094dbSNPEnsembl.1
Natural variantiVAR_03004716A → V in VWS1. 1 Publication1
Natural variantiVAR_01496218V → A in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01496318V → M in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_03004822L → P in VWS1 and PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant rs387906967dbSNPEnsembl.1
Natural variantiVAR_01496439P → A in VWS1. 1 Publication1
Natural variantiVAR_03004945R → Q in VWS1. 1 PublicationCorresponds to variant rs121434229dbSNPEnsembl.1
Natural variantiVAR_01496661A → G in VWS1. 1 Publication1
Natural variantiVAR_03005064T → I in VWS1. 1 Publication1
Natural variantiVAR_01496870G → R in VWS1; does not affect DNA binding. 2 PublicationsCorresponds to variant rs776236749dbSNPEnsembl.1
Natural variantiVAR_01496976P → S in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_03005184R → G in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01497388N → H in VWS1. 1 Publication1
Natural variantiVAR_01497590S → G in VWS1. 1 Publication1
Natural variantiVAR_01497698D → H in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_030052100T → A in VWS1. 1 Publication1
Natural variantiVAR_014977250R → Q in VWS1. 1 Publication1
Natural variantiVAR_030053251L → P in VWS1. 1 Publication1
Natural variantiVAR_014978273Q → R in VWS1. 1 Publication1
Natural variantiVAR_014980290 – 296FTSKLLD → L in VWS1. 1 Publication7
Natural variantiVAR_014981294L → P in VWS1. 1 Publication1
Natural variantiVAR_014982297V → I in VWS1. 1 Publication1
Natural variantiVAR_014983320K → E in VWS1. 1 Publication1
Natural variantiVAR_014984321V → M in VWS1. 1 Publication1
Natural variantiVAR_014985325G → E in VWS1. 1 Publication1
Natural variantiVAR_059080339R → I in VWS1. 1 PublicationCorresponds to variant rs121434231dbSNPEnsembl.1
Natural variantiVAR_014986345L → P in VWS1. 1 Publication1
Natural variantiVAR_014987347C → F in VWS1. 1 Publication1
Natural variantiVAR_030054349E → V in VWS1. 1 Publication1
Natural variantiVAR_014988369F → S in VWS1 and OFC6. 2 Publications1
Natural variantiVAR_014989374C → W in VWS1. 1 Publication1
Natural variantiVAR_014990388K → E in VWS1. 1 Publication1
Natural variantiVAR_030055396P → S in VWS1. 1 PublicationCorresponds to variant rs121434230dbSNPEnsembl.1
Natural variantiVAR_030056400R → W in VWS1. 1 PublicationCorresponds to variant rs28942095dbSNPEnsembl.1
Popliteal pterygium syndrome (PPS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus.
See also OMIM:119500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03004822L → P in VWS1 and PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant rs387906967dbSNPEnsembl.1
Natural variantiVAR_01496560W → G in PPS; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01496766K → T in PPS. 1 Publication1
Natural variantiVAR_01497082Q → K in PPS. 1 Publication1
Natural variantiVAR_01497184R → C in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant rs121434226dbSNPEnsembl.1
Natural variantiVAR_01497284R → H in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant rs121434227dbSNPEnsembl.1
Natural variantiVAR_06447584R → L in PPS. 1 PublicationCorresponds to variant rs121434227dbSNPEnsembl.1
Natural variantiVAR_01497489K → E in PPS; abrogates DNA binding. 2 Publications1
Natural variantiVAR_064476424S → L in PPS; significant decrease of transcriptional activity. 1 PublicationCorresponds to variant rs387906968dbSNPEnsembl.1
Natural variantiVAR_014991430D → N in PPS. 1 Publication1
Non-syndromic orofacial cleft 6 (OFC6)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
See also OMIM:608864
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014988369F → S in VWS1 and OFC6. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3664.
MalaCardsiIRF6.
MIMi119300. phenotype.
119500. phenotype.
608864. phenotype.
OpenTargetsiENSG00000117595.
Orphaneti1300. Autosomal dominant popliteal pterygium syndrome.
1991. Cleft lip with or without cleft palate.
2227. Hypodontia.
99798. Oligodontia.
888. Van der Woude syndrome.
PharmGKBiPA29920.

Polymorphism and mutation databases

BioMutaiIRF6.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001545601 – 467Interferon regulatory factor 6Add BLAST467

Post-translational modificationi

Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.2 Publications

Keywords - PTMi

Ubl conjugation

Proteomic databases

EPDiO14896.
MaxQBiO14896.
PaxDbiO14896.
PeptideAtlasiO14896.
PRIDEiO14896.
TopDownProteomicsiO14896-1. [O14896-1]

PTM databases

iPTMnetiO14896.
PhosphoSitePlusiO14896.

Expressioni

Tissue specificityi

Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.1 Publication

Gene expression databases

BgeeiENSG00000117595.
CleanExiHS_IRF6.
ExpressionAtlasiO14896. baseline and differential.
GenevisibleiO14896. HS.

Organism-specific databases

HPAiHPA063121.

Interactioni

Subunit structurei

Interacts with SERPINB5.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
IRF8Q025563EBI-6115643,EBI-2866563

Protein-protein interaction databases

BioGridi109872. 7 interactors.
IntActiO14896. 3 interactors.
STRINGi9606.ENSP00000355988.

Structurei

3D structure databases

ProteinModelPortaliO14896.
SMRiO14896.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the IRF family.PROSITE-ProRule annotation
Contains 1 IRF tryptophan pentad repeat DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IFCV. Eukaryota.
ENOG410XRXT. LUCA.
GeneTreeiENSGT00760000119093.
HOGENOMiHOG000037433.
HOVERGENiHBG105715.
InParanoidiO14896.
KOiK10154.
OMAiCLLQTHQ.
OrthoDBiEOG091G067P.
PhylomeDBiO14896.
TreeFamiTF328512.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
2.60.200.10. 1 hit.
InterProiIPR019817. Interferon_reg_fac_CS.
IPR001346. Interferon_reg_fact_DNA-bd_dom.
IPR019471. Interferon_reg_factor-3.
IPR017855. SMAD_dom-like.
IPR008984. SMAD_FHA_domain.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00605. IRF. 1 hit.
PF10401. IRF-3. 1 hit.
[Graphical view]
PRINTSiPR00267. INTFRNREGFCT.
SMARTiSM00348. IRF. 1 hit.
SM01243. IRF-3. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF49879. SSF49879. 1 hit.
PROSITEiPS00601. IRF_1. 1 hit.
PS51507. IRF_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: O14896-1) [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
MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ
60 70 80 90 100
EEENTIFKAW AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT
110 120 130 140 150
KEVPMNPVKI YQVCDIPQPQ GSIINPGSTG SAPWDEKDND VDEEDEEDEL
160 170 180 190 200
DQSQHHVPIQ DTFPFLNING SPMAPASVGN CSVGNCSPEA VWPKTEPLEM
210 220 230 240 250
EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT MTVSNPQGCR
260 270 280 290 300
LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR
310 320 330 340 350
GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET
360 370 380 390 400
FLSDLIAHQK GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR
410 420 430 440 450
MIYEMFSGDF TRSFDSGSVR LQISTPDIKD NIVAQLKQLY RILQTQESWQ
460
PMQPTPSMQL PPALPPQ
Length:467
Mass (Da):53,130
Last modified:January 1, 1998 - v1
Checksum:i7E28F5E0F5BA4053
GO
Isoform 2 (identifier: O14896-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.

Note: No experimental confirmation available.
Show »
Length:372
Mass (Da):41,930
Checksum:i2AF7C0699CE42FF0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0149612A → V in VWS1. 2 PublicationsCorresponds to variant rs28942093dbSNPEnsembl.1
Natural variantiVAR_0300466R → C in VWS1. 1 PublicationCorresponds to variant rs28942094dbSNPEnsembl.1
Natural variantiVAR_03004716A → V in VWS1. 1 Publication1
Natural variantiVAR_01496218V → A in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01496318V → M in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_03004822L → P in VWS1 and PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant rs387906967dbSNPEnsembl.1
Natural variantiVAR_01496439P → A in VWS1. 1 Publication1
Natural variantiVAR_03004945R → Q in VWS1. 1 PublicationCorresponds to variant rs121434229dbSNPEnsembl.1
Natural variantiVAR_01496560W → G in PPS; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01496661A → G in VWS1. 1 Publication1
Natural variantiVAR_03005064T → I in VWS1. 1 Publication1
Natural variantiVAR_01496766K → T in PPS. 1 Publication1
Natural variantiVAR_01496870G → R in VWS1; does not affect DNA binding. 2 PublicationsCorresponds to variant rs776236749dbSNPEnsembl.1
Natural variantiVAR_01496976P → S in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01497082Q → K in PPS. 1 Publication1
Natural variantiVAR_01497184R → C in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant rs121434226dbSNPEnsembl.1
Natural variantiVAR_03005184R → G in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01497284R → H in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant rs121434227dbSNPEnsembl.1
Natural variantiVAR_06447584R → L in PPS. 1 PublicationCorresponds to variant rs121434227dbSNPEnsembl.1
Natural variantiVAR_01497388N → H in VWS1. 1 Publication1
Natural variantiVAR_01497489K → E in PPS; abrogates DNA binding. 2 Publications1
Natural variantiVAR_01497590S → G in VWS1. 1 Publication1
Natural variantiVAR_01497698D → H in VWS1; abrogates DNA binding. 2 Publications1
Natural variantiVAR_030052100T → A in VWS1. 1 Publication1
Natural variantiVAR_014977250R → Q in VWS1. 1 Publication1
Natural variantiVAR_030053251L → P in VWS1. 1 Publication1
Natural variantiVAR_014978273Q → R in VWS1. 1 Publication1
Natural variantiVAR_014979274V → I Common polymorphism; 3% in European-descended and 22% in Asian populations; responsible for 12% of the genetic contribution to cleft lip or palate; tripled the risk of recurrence in families that already had 1 affected child. 3 PublicationsCorresponds to variant rs2235371dbSNPEnsembl.1
Natural variantiVAR_014980290 – 296FTSKLLD → L in VWS1. 1 Publication7
Natural variantiVAR_014981294L → P in VWS1. 1 Publication1
Natural variantiVAR_014982297V → I in VWS1. 1 Publication1
Natural variantiVAR_014983320K → E in VWS1. 1 Publication1
Natural variantiVAR_014984321V → M in VWS1. 1 Publication1
Natural variantiVAR_014985325G → E in VWS1. 1 Publication1
Natural variantiVAR_059080339R → I in VWS1. 1 PublicationCorresponds to variant rs121434231dbSNPEnsembl.1
Natural variantiVAR_014986345L → P in VWS1. 1 Publication1
Natural variantiVAR_014987347C → F in VWS1. 1 Publication1
Natural variantiVAR_030054349E → V in VWS1. 1 Publication1
Natural variantiVAR_014988369F → S in VWS1 and OFC6. 2 Publications1
Natural variantiVAR_014989374C → W in VWS1. 1 Publication1
Natural variantiVAR_014990388K → E in VWS1. 1 Publication1
Natural variantiVAR_030055396P → S in VWS1. 1 PublicationCorresponds to variant rs121434230dbSNPEnsembl.1
Natural variantiVAR_030056400R → W in VWS1. 1 PublicationCorresponds to variant rs28942095dbSNPEnsembl.1
Natural variantiVAR_064476424S → L in PPS; significant decrease of transcriptional activity. 1 PublicationCorresponds to variant rs387906968dbSNPEnsembl.1
Natural variantiVAR_014991430D → N in PPS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0464351 – 95Missing in isoform 2. 1 PublicationAdd BLAST95

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027292 mRNA. Translation: AAB84111.1.
JF346417 Genomic DNA. Translation: AEL89176.1.
AK296960 mRNA. Translation: BAG59504.1.
AL022398 Genomic DNA. Translation: CAA18545.1.
CH471100 Genomic DNA. Translation: EAW93438.1.
CH471100 Genomic DNA. Translation: EAW93439.1.
BC014852 mRNA. Translation: AAH14852.1.
CCDSiCCDS1492.1. [O14896-1]
CCDS55681.1. [O14896-2]
RefSeqiNP_001193625.1. NM_001206696.1. [O14896-2]
NP_006138.1. NM_006147.3. [O14896-1]
UniGeneiHs.591415.

Genome annotation databases

EnsembliENST00000367021; ENSP00000355988; ENSG00000117595. [O14896-1]
ENST00000542854; ENSP00000440532; ENSG00000117595. [O14896-2]
GeneIDi3664.
KEGGihsa:3664.
UCSCiuc001hhq.3. human. [O14896-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027292 mRNA. Translation: AAB84111.1.
JF346417 Genomic DNA. Translation: AEL89176.1.
AK296960 mRNA. Translation: BAG59504.1.
AL022398 Genomic DNA. Translation: CAA18545.1.
CH471100 Genomic DNA. Translation: EAW93438.1.
CH471100 Genomic DNA. Translation: EAW93439.1.
BC014852 mRNA. Translation: AAH14852.1.
CCDSiCCDS1492.1. [O14896-1]
CCDS55681.1. [O14896-2]
RefSeqiNP_001193625.1. NM_001206696.1. [O14896-2]
NP_006138.1. NM_006147.3. [O14896-1]
UniGeneiHs.591415.

3D structure databases

ProteinModelPortaliO14896.
SMRiO14896.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109872. 7 interactors.
IntActiO14896. 3 interactors.
STRINGi9606.ENSP00000355988.

PTM databases

iPTMnetiO14896.
PhosphoSitePlusiO14896.

Polymorphism and mutation databases

BioMutaiIRF6.

Proteomic databases

EPDiO14896.
MaxQBiO14896.
PaxDbiO14896.
PeptideAtlasiO14896.
PRIDEiO14896.
TopDownProteomicsiO14896-1. [O14896-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367021; ENSP00000355988; ENSG00000117595. [O14896-1]
ENST00000542854; ENSP00000440532; ENSG00000117595. [O14896-2]
GeneIDi3664.
KEGGihsa:3664.
UCSCiuc001hhq.3. human. [O14896-1]

Organism-specific databases

CTDi3664.
DisGeNETi3664.
GeneCardsiIRF6.
GeneReviewsiIRF6.
HGNCiHGNC:6121. IRF6.
HPAiHPA063121.
MalaCardsiIRF6.
MIMi119300. phenotype.
119500. phenotype.
607199. gene.
608864. phenotype.
neXtProtiNX_O14896.
OpenTargetsiENSG00000117595.
Orphaneti1300. Autosomal dominant popliteal pterygium syndrome.
1991. Cleft lip with or without cleft palate.
2227. Hypodontia.
99798. Oligodontia.
888. Van der Woude syndrome.
PharmGKBiPA29920.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFCV. Eukaryota.
ENOG410XRXT. LUCA.
GeneTreeiENSGT00760000119093.
HOGENOMiHOG000037433.
HOVERGENiHBG105715.
InParanoidiO14896.
KOiK10154.
OMAiCLLQTHQ.
OrthoDBiEOG091G067P.
PhylomeDBiO14896.
TreeFamiTF328512.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117595-MONOMER.
ReactomeiR-HSA-877300. Interferon gamma signaling.
R-HSA-909733. Interferon alpha/beta signaling.

Miscellaneous databases

ChiTaRSiIRF6. human.
GeneWikiiIRF6.
GenomeRNAii3664.
PROiO14896.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117595.
CleanExiHS_IRF6.
ExpressionAtlasiO14896. baseline and differential.
GenevisibleiO14896. HS.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
2.60.200.10. 1 hit.
InterProiIPR019817. Interferon_reg_fac_CS.
IPR001346. Interferon_reg_fact_DNA-bd_dom.
IPR019471. Interferon_reg_factor-3.
IPR017855. SMAD_dom-like.
IPR008984. SMAD_FHA_domain.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00605. IRF. 1 hit.
PF10401. IRF-3. 1 hit.
[Graphical view]
PRINTSiPR00267. INTFRNREGFCT.
SMARTiSM00348. IRF. 1 hit.
SM01243. IRF-3. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF49879. SSF49879. 1 hit.
PROSITEiPS00601. IRF_1. 1 hit.
PS51507. IRF_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIRF6_HUMAN
AccessioniPrimary (citable) accession number: O14896
Secondary accession number(s): B4DLE2
, D3DT90, F5GWX8, G0ZTL0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: November 2, 2016
This is version 161 of the entry and version 1 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.