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Protein

Homeobox protein Nkx-2.1

Gene

NKX2-1

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

Functioni

Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi161 – 22060HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • core promoter binding Source: UniProtKB
  • DNA binding Source: UniProtKB
  • enzyme binding Source: UniProtKB
  • intronic transcription regulatory region DNA binding Source: MGI
  • intronic transcription regulatory region sequence-specific DNA binding Source: UniProtKB
  • RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
  • RNA polymerase II regulatory region DNA binding Source: MGI
  • RNA polymerase II regulatory region sequence-specific DNA binding Source: MGI
  • sequence-specific DNA binding transcription factor activity Source: UniProtKB
  • transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Biological rhythms, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Nkx-2.1
Alternative name(s):
Homeobox protein NK-2 homolog A
Thyroid nuclear factor 1
Thyroid transcription factor 1
Short name:
TTF-1
Thyroid-specific enhancer-binding protein
Short name:
T/EBP
Gene namesi
Name:NKX2-1Imported
Synonyms:NKX2A, TITF1, TTF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:11825. NKX2-1.

Subcellular locationi

  • Nucleus By similarity

GO - Cellular componenti

  • nucleoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
  • transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Chorea, hereditary benign (BHC)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement.

See also OMIM:118700
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti208 – 2081W → L in BHC. 1 Publication
Corresponds to variant rs28936672 [ dbSNP | Ensembl ].
VAR_015188
Natural varianti213 – 2131R → S in BHC. 1 Publication
Corresponds to variant rs28936671 [ dbSNP | Ensembl ].
VAR_015189
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria.

See also OMIM:610978
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti203 – 2031T → R in CAHTP. 1 Publication
VAR_073040
Natural varianti205 – 2051V → F in CAHTP. 2 Publications
VAR_034906

Keywords - Diseasei

Congenital hypothyroidism, Disease mutation

Organism-specific databases

MIMi118700. phenotype.
610978. phenotype.
Orphaneti95713. Athyreosis.
1429. Benign familial chorea.
209905. Brain-lung-thyroid syndrome.
146. Papillary or follicular thyroid carcinoma.
95720. Thyroid hypoplasia.
PharmGKBiPA36531.

Polymorphism and mutation databases

BioMutaiNKX2-1.
DMDMi1174819.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 371371Homeobox protein Nkx-2.1PRO_0000049343Add
BLAST

Post-translational modificationi

Phosphorylated on serine residues by STK3/MST2.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP43699.
PaxDbiP43699.
PRIDEiP43699.

PTM databases

PhosphoSiteiP43699.

Expressioni

Tissue specificityi

Thyroid and lung.

Gene expression databases

BgeeiP43699.
CleanExiHS_NKX2-1.
HS_TTF1.
ExpressionAtlasiP43699. baseline and differential.
GenevisibleiP43699. HS.

Organism-specific databases

HPAiCAB000078.
CAB053633.

Interactioni

Subunit structurei

Interacts with WWTR1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC59Q9P0314EBI-1391923,EBI-1047110
NCK1P163332EBI-1391923,EBI-389883

Protein-protein interaction databases

BioGridi112936. 11 interactions.
IntActiP43699. 8 interactions.
MINTiMINT-192847.
STRINGi9606.ENSP00000346879.

Structurei

3D structure databases

ProteinModelPortaliP43699.
SMRiP43699. Positions 161-227.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi234 – 24310Poly-Gly
Compositional biasi246 – 2538Poly-Gln
Compositional biasi294 – 30310Poly-Ala

Sequence similaritiesi

Belongs to the NK-2 homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG328614.
GeneTreeiENSGT00800000124015.
HOGENOMiHOG000231923.
HOVERGENiHBG006689.
InParanoidiP43699.
KOiK09342.
OMAiVSMENNN.
OrthoDBiEOG769ZK0.
PhylomeDBiP43699.
TreeFamiTF351204.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_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: P43699-1) [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
MSMSPKHTTP FSVSDILSPL EESYKKVGME GGGLGAPLAA YRQGQAAPPT
60 70 80 90 100
AAMQQHAVGH HGAVTAAYHM TAAGVPQLSH SAVGGYCNGN LGNMSELPPY
110 120 130 140 150
QDTMRNSASG PGWYGANPDP RFPAISRFMG PASGMNMSGM GGLGSLGDVS
160 170 180 190 200
KNMAPLPSAP RRKRRVLFSQ AQVYELERRF KQQKYLSAPE REHLASMIHL
210 220 230 240 250
TPTQVKIWFQ NHRYKMKRQA KDKAAQQQLQ QDSGGGGGGG GTGCPQQQQA
260 270 280 290 300
QQQSPRRVAV PVLVKDGKPC QAGAPAPGAA SLQGHAQQQA QHQAQAAQAA
310 320 330 340 350
AAAISVGSGG AGLGAHPGHQ PGSAGQSPDL AHHAASPAAL QGQVSSLSHL
360 370
NSSGSDYGTM SCSTLLYGRT W
Length:371
Mass (Da):38,596
Last modified:November 1, 1995 - v1
Checksum:i5F1E3B40A1BBD862
GO
Isoform 3 (identifier: P43699-3) [UniParc]FASTAAdd to basket

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

Show »
Length:401
Mass (Da):41,737
Checksum:i40324D55128D4394
GO

Sequence cautioni

The sequence AAH06221.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA23527.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti49 – 491P → H in BAA23527 (Ref. 5) Curated
Sequence conflicti49 – 491P → H in BAA23529 (Ref. 5) Curated
Sequence conflicti61 – 611H → P in BAA23527 (Ref. 5) Curated
Sequence conflicti61 – 611H → P in BAA23529 (Ref. 5) Curated
Sequence conflicti158 – 1581S → T in BAA23527 (Ref. 5) Curated
Sequence conflicti158 – 1581S → T in BAA23529 (Ref. 5) Curated
Sequence conflicti161 – 1611R → G in BAA23527 (Ref. 5) Curated
Sequence conflicti161 – 1611R → G in BAA23529 (Ref. 5) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti203 – 2031T → R in CAHTP. 1 Publication
VAR_073040
Natural varianti205 – 2051V → F in CAHTP. 2 Publications
VAR_034906
Natural varianti208 – 2081W → L in BHC. 1 Publication
Corresponds to variant rs28936672 [ dbSNP | Ensembl ].
VAR_015188
Natural varianti213 – 2131R → S in BHC. 1 Publication
Corresponds to variant rs28936671 [ dbSNP | Ensembl ].
VAR_015189

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MWSGGSGKARGWEAAAGGRS SPGRLSRRRIM in isoform 3. 3 PublicationsVSP_037890

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U19756 mRNA. Translation: AAA86099.1.
X82850 mRNA. Translation: CAA58053.1.
U19816 Genomic DNA. Translation: AAC50125.1.
U33749 mRNA. Translation: AAB52381.1.
U43203 mRNA. Translation: AAA89066.1.
D50739 Genomic DNA. Translation: BAA23527.1. Sequence problems.
D50740 mRNA. Translation: BAA23529.1.
BT009773 mRNA. Translation: AAP88775.1.
AL132857 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65858.1.
CH471078 Genomic DNA. Translation: EAW65856.1.
CH471078 Genomic DNA. Translation: EAW65859.1.
BC006221 mRNA. Translation: AAH06221.2. Different initiation.
CCDSiCCDS41945.1. [P43699-3]
CCDS9659.1. [P43699-1]
PIRiG02321.
RefSeqiNP_001073136.1. NM_001079668.2. [P43699-3]
NP_003308.1. NM_003317.3. [P43699-1]
UniGeneiHs.94367.

Genome annotation databases

EnsembliENST00000354822; ENSP00000346879; ENSG00000136352. [P43699-3]
ENST00000498187; ENSP00000429607; ENSG00000136352.
ENST00000518149; ENSP00000428341; ENSG00000136352.
ENST00000522719; ENSP00000429519; ENSG00000136352.
GeneIDi7080.
KEGGihsa:7080.
UCSCiuc001wtt.3. human. [P43699-1]
uc001wtu.3. human. [P43699-3]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U19756 mRNA. Translation: AAA86099.1.
X82850 mRNA. Translation: CAA58053.1.
U19816 Genomic DNA. Translation: AAC50125.1.
U33749 mRNA. Translation: AAB52381.1.
U43203 mRNA. Translation: AAA89066.1.
D50739 Genomic DNA. Translation: BAA23527.1. Sequence problems.
D50740 mRNA. Translation: BAA23529.1.
BT009773 mRNA. Translation: AAP88775.1.
AL132857 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65858.1.
CH471078 Genomic DNA. Translation: EAW65856.1.
CH471078 Genomic DNA. Translation: EAW65859.1.
BC006221 mRNA. Translation: AAH06221.2. Different initiation.
CCDSiCCDS41945.1. [P43699-3]
CCDS9659.1. [P43699-1]
PIRiG02321.
RefSeqiNP_001073136.1. NM_001079668.2. [P43699-3]
NP_003308.1. NM_003317.3. [P43699-1]
UniGeneiHs.94367.

3D structure databases

ProteinModelPortaliP43699.
SMRiP43699. Positions 161-227.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112936. 11 interactions.
IntActiP43699. 8 interactions.
MINTiMINT-192847.
STRINGi9606.ENSP00000346879.

PTM databases

PhosphoSiteiP43699.

Polymorphism and mutation databases

BioMutaiNKX2-1.
DMDMi1174819.

Proteomic databases

MaxQBiP43699.
PaxDbiP43699.
PRIDEiP43699.

Protocols and materials databases

DNASUi7080.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354822; ENSP00000346879; ENSG00000136352. [P43699-3]
ENST00000498187; ENSP00000429607; ENSG00000136352.
ENST00000518149; ENSP00000428341; ENSG00000136352.
ENST00000522719; ENSP00000429519; ENSG00000136352.
GeneIDi7080.
KEGGihsa:7080.
UCSCiuc001wtt.3. human. [P43699-1]
uc001wtu.3. human. [P43699-3]

Organism-specific databases

CTDi7080.
GeneCardsiGC14M036985.
HGNCiHGNC:11825. NKX2-1.
HPAiCAB000078.
CAB053633.
MIMi118700. phenotype.
600635. gene.
610978. phenotype.
neXtProtiNX_P43699.
Orphaneti95713. Athyreosis.
1429. Benign familial chorea.
209905. Brain-lung-thyroid syndrome.
146. Papillary or follicular thyroid carcinoma.
95720. Thyroid hypoplasia.
PharmGKBiPA36531.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG328614.
GeneTreeiENSGT00800000124015.
HOGENOMiHOG000231923.
HOVERGENiHBG006689.
InParanoidiP43699.
KOiK09342.
OMAiVSMENNN.
OrthoDBiEOG769ZK0.
PhylomeDBiP43699.
TreeFamiTF351204.

Miscellaneous databases

GeneWikiiNK2_homeobox_1.
GenomeRNAii7080.
NextBioi27693.
PROiP43699.
SOURCEiSearch...

Gene expression databases

BgeeiP43699.
CleanExiHS_NKX2-1.
HS_TTF1.
ExpressionAtlasiP43699. baseline and differential.
GenevisibleiP43699. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The complete nucleotide sequence of the mouse thyroid-specific enhancer-binding protein (T/EBP) gene: extensive identity of the deduced amino acid sequence with the human protein."
    Oguchi H., Pan Y.-T., Kimura S.
    Biochim. Biophys. Acta 1261:304-306(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Lung.
  2. "Cloning and sequence analysis of human thyroid transcription factor 1."
    Saiardi A., Tassi V., de Filippis V., Civitareale D.
    Biochim. Biophys. Acta 1261:307-310(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Thyroid.
  3. "Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells."
    Ikeda K., Clark J.C., Shaw-White J.R., Stahlman M.T., Boutell C.J., Whitsett J.A.
    J. Biol. Chem. 270:8108-8114(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3).
    Tissue: Lung.
  5. "Cloning of the human TTF-1 gene."
    Endo T., Ohno M., Nakazato M.
    Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
    Tissue: Thyroid.
  6. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  7. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Lung.
  10. "TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation."
    Di Palma T., D'Andrea B., Liguori G.L., Liguoro A., de Cristofaro T., Del Prete D., Pappalardo A., Mascia A., Zannini M.
    Exp. Cell Res. 315:162-175(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH WWTR1.
  11. Cited for: VARIANTS BHC LEU-208 AND SER-213.
  12. "Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice."
    Pohlenz J., Dumitrescu A., Zundel D., Martine U., Schoenberger W., Koo E., Weiss R.E., Cohen R.N., Kimura S., Refetoff S.
    J. Clin. Invest. 109:469-473(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CAHTP.
  13. Cited for: VARIANT CAHTP PHE-205.
  14. "Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1."
    Doyle D.A., Gonzalez I., Thomas B., Scavina M.
    J. Pediatr. 145:190-193(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CAHTP.
  15. "A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa."
    Asmus F., Horber V., Pohlenz J., Schwabe D., Zimprich A., Munz M., Schoening M., Gasser T.
    Neurology 64:1952-1954(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CAHTP AND IN BHC.
  16. Cited for: VARIANTS CAHTP ARG-203 AND PHE-205.

Entry informationi

Entry nameiNKX21_HUMAN
AccessioniPrimary (citable) accession number: P43699
Secondary accession number(s): D3DSA3
, O14954, O14955, Q7KZF6, Q9BRJ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: July 22, 2015
This is version 153 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 14
    Human chromosome 14: 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

External Data

Dasty 3

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 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.