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Q99593 (TBX5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 144. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
T-box transcription factor TBX5

Short name=T-box protein 5
Gene names
Name:TBX5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length518 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.

Subunit structure

Monomer. Ref.9

Subcellular location

Nucleus Potential.

Involvement in disease

Holt-Oram syndrome (HOS) [MIM:142900]: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.3 Ref.9 Ref.10 Ref.11

Sequence similarities

Contains 1 T-box DNA-binding domain.

Sequence caution

The sequence BAB55448.1 differs from that shown. Reason: Frameshift at position 360.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic nuclear changes

Inferred from direct assay PubMed 12237100. Source: UniProtKB

atrial septum morphogenesis

Inferred from electronic annotation. Source: Ensembl

atrioventricular valve morphogenesis

Inferred from electronic annotation. Source: Ensembl

bundle of His development

Inferred from electronic annotation. Source: Ensembl

cardiac left ventricle formation

Inferred from sequence or structural similarity. Source: BHF-UCL

cardiac muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

cell migration involved in coronary vasculogenesis

Traceable author statement PubMed 20299672. Source: DFLAT

cell-cell signaling

Inferred from direct assay PubMed 11161571. Source: UniProtKB

embryonic forelimb morphogenesis

Inferred from mutant phenotype PubMed 16183809. Source: UniProtKB

embryonic limb morphogenesis

Inferred from mutant phenotype Ref.1. Source: UniProtKB

endocardial cushion development

Inferred from electronic annotation. Source: Ensembl

forelimb morphogenesis

Inferred from mutant phenotype Ref.1Ref.2. Source: MGI

gene expression

Traceable author statement. Source: Reactome

heart development

Inferred from direct assay PubMed 15138308. Source: UniProtKB

lung development

Inferred from electronic annotation. Source: Ensembl

morphogenesis of an epithelium

Inferred from electronic annotation. Source: Ensembl

negative regulation of cardiac muscle cell proliferation

Inferred from direct assay PubMed 11161571. Source: UniProtKB

negative regulation of cell migration

Inferred from direct assay PubMed 15138308. Source: UniProtKB

negative regulation of cell proliferation

Inferred from direct assay PubMed 11161571PubMed 12237100. Source: UniProtKB

negative regulation of epithelial to mesenchymal transition

Traceable author statement PubMed 20299672. Source: DFLAT

pattern specification process

Inferred from electronic annotation. Source: Ensembl

pericardium development

Inferred from direct assay PubMed 15138308. Source: UniProtKB

positive regulation of cardiac muscle cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of cardioblast differentiation

Inferred from direct assay PubMed 11431700. Source: UniProtKB

positive regulation of secondary heart field cardioblast proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from mutant phenotype PubMed 11431700. Source: BHF-UCL

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 11431700PubMed 12499378PubMed 12845333PubMed 16332960. Source: UniProtKB

regulation of execution phase of apoptosis

Inferred by curator PubMed 12237100. Source: UniProtKB

transcription initiation from RNA polymerase II promoter

Traceable author statement. Source: Reactome

ventricular cardiac muscle tissue development

Inferred from electronic annotation. Source: Ensembl

ventricular septum development

Inferred from sequence or structural similarity. Source: BHF-UCL

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 14519429. Source: UniProtKB

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay PubMed 12237100PubMed 12499378PubMed 14519429. Source: UniProtKB

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from direct assay PubMed 16332960. Source: UniProtKB

RNA polymerase II regulatory region sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding

Inferred from direct assay PubMed 11431700PubMed 12499378. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from direct assay PubMed 11431700PubMed 12499378PubMed 16332960. Source: UniProtKB

transcription factor binding

Inferred from physical interaction PubMed 11431700. Source: BHF-UCL

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Gata4Q083692EBI-297043,EBI-297008From a different organism.
NKX2-5P529526EBI-304423,EBI-936601
YAP1P469374EBI-297043,EBI-1044059

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99593-1)

Also known as: Long;

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.
Isoform 2 (identifier: Q99593-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     328-349: EEECSTTDHPYKKPYMETSPSE → GECDHPWSICFLSYLFLSLGWG
     350-518: Missing.
Isoform 3 (identifier: Q99593-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 518518T-box transcription factor TBX5
PRO_0000184435

Regions

DNA binding58 – 238181T-box

Natural variations

Alternative sequence1 – 5050Missing in isoform 3.
VSP_046845
Alternative sequence328 – 34922EEECS…TSPSE → GECDHPWSICFLSYLFLSLG WG in isoform 2.
VSP_006387
Alternative sequence350 – 518169Missing in isoform 2.
VSP_006388
Natural variant491Q → K in HOS. Ref.10
VAR_015381
Natural variant541I → T in HOS. Ref.10
VAR_015382
Natural variant801G → R in HOS; significant cardiac malformations but only minor skeletal abnormalities; reduced protein stability and strongly reduced affinity for DNA. Ref.3 Ref.9
VAR_009701
Natural variant2371R → Q in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. Ref.2 Ref.3 Ref.11
VAR_007456
Natural variant2371R → W in HOS; extensive upper limb malformations; strongly reduced affinity for DNA. Ref.3 Ref.9
VAR_009702

Experimental info

Sequence conflict7 – 4943GFGLA…AFTQQ → ALAGAHLWSLTQKTCLRFEP RARSGPPASPPGRPRSRLHP A in CAA70592. Ref.1
Sequence conflict711Missing in CAA70592. Ref.1
Sequence conflict941L → I in CAA70592. Ref.1
Sequence conflict1221S → C in CAA70592. Ref.1
Sequence conflict1321P → A in CAA70592. Ref.1
Sequence conflict418 – 46043MDRLP…QHQTS → WTGYPTSTSPLTSPRGPWSL GWLAWQPWLPTAGRGNVPST RPP in CAA70592. Ref.1
Sequence conflict468 – 4703RQC → SSV in CAA70592. Ref.1
Sequence conflict494 – 51825PRTLS…WSDNS → QGLYPLISTTLCTELAWCRV ERQ in CAA70592. Ref.1

Secondary structure

.................................. 518
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified December 1, 2000. Version 2.
Checksum: 70118AD84FF5C00F

FASTA51857,711
        10         20         30         40         50         60 
MADADEGFGL AHTPLEPDAK DLPCDSKPES ALGAPSKSPS SPQAAFTQQG MEGIKVFLHE 

        70         80         90        100        110        120 
RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY ILLMDIVPAD DHRYKFADNK 

       130        140        150        160        170        180 
WSVTGKAEPA MPGRLYVHPD SPATGAHWMR QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ 

       190        200        210        220        230        240 
PRLHIVKADE NNGFGSKNTA FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD 

       250        260        270        280        290        300 
DMELHRMSRM QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP 

       310        320        330        340        350        360 
SQDLLPPPNP YPLPQEHSQI YHCTKRKEEE CSTTDHPYKK PYMETSPSEE DSFYRSSYPQ 

       370        380        390        400        410        420 
QQGLGASYRT ESAQRQACMY ASSAPPSEPV PSLEDISCNT WPSMPSYSSC TVTTVQPMDR 

       430        440        450        460        470        480 
LPYQHFSAHF TSGPLVPRLA GMANHGSPQL GEGMFQHQTS VAHQPVVRQC GPQTGLQSPG 

       490        500        510 
TLQPPEFLYS HGVPRTLSPH QYHSVHGVGM VPEWSDNS 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: 50CE556CD97ACD76
Show »

FASTA34939,196
Isoform 3 [UniParc].

Checksum: F0434B124BB31A5A
Show »

FASTA46852,659

References

« Hide 'large scale' references
[1]"Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family."
Li Q.Y., Newbury-Ecob R., Terrett J.A., Wilson D.I., Curtis A., Yi C.H., Bullen P.J., Strachan T., Robson S., Bonnet D., Young I.E., Raeburn J.A., Buckler A.J., Gebuhr T., Law D.J., Brook J.D.
Nat. Genet. 15:21-29(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome."
Basson C.T., Bachinsky D.R., Lin R.C., Levi T., Elkins J.A., Soults J., Grayzel D., Kroumpouzou E., Traill T.A., Leblanc-Straceski J., Renault B., Kucherlapati R., Seidman J.G., Seidman C.E.
Nat. Genet. 15:30-35(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING, VARIANT HOS GLN-237.
[3]"Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations."
Basson C.T., Huang T., Lin R.C., Bachinksy D.R., Weremowicz S., Vaglio A., Bruzzone R., Quadrelli R., Lerone M., Romeo G., Silengo M., Pereira A., Krieger J., Mesquita S.F., Kamisago M., Morton C.C., Pierpont M.E.M., Muller C.W., Seidman J.G., Seidman C.E.
Proc. Natl. Acad. Sci. U.S.A. 96:2919-2924(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS HOS ARG-80; GLN-237 AND TRP-237.
[4]"The mutation spectrum in Holt-Oram syndrome."
Cross S.J., Ching Y.-H., Li Q.Y., Armstrong-Buisseret L., Spranger S., Lyonnet S., Bonnet D., Penttinen M., Jonveaux P., Leheup B., Mortier G., Van Ravenswaaij C., Gardiner C.A.
J. Med. Genet. 37:785-787(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]"Human transcription factor TBX5mRNA, alternatively spliced."
Demura M., Yoneda T., Takeda Y., Furukawa K., Mabuti H.
Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[6]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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 1).
Tissue: Lung and Spleen.
[9]"Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form."
Stirnimann C.U., Ptchelkine D., Grimm C., Muller C.W.
J. Mol. Biol. 400:71-81(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 51-251 IN COMPLEX WITH DNA, CHARACTERIZATION OF VARIANTS HOS ARG-80 AND TRP-237, SUBUNIT.
[10]"Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome."
Yang J., Hu D., Xia J., Yang Y., Ying B., Hu J., Zhou X.
Am. J. Med. Genet. 92:237-240(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HOS LYS-49 AND THR-54.
[11]"Mutation in myosin heavy chain 6 causes atrial septal defect."
Ching Y.-H., Ghosh T.K., Cross S.J., Packham E.A., Honeyman L., Loughna S., Robinson T.E., Dearlove A.M., Ribas G., Bonser A.J., Thomas N.R., Scotter A.J., Caves L.S.D., Tyrrell G.P., Newbury-Ecob R.A., Munnich A., Bonnet D., Brook J.D.
Nat. Genet. 37:423-428(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT HOS GLN-237.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y09445 mRNA. Translation: CAA70592.1.
U80987 mRNA. Translation: AAC51644.1.
U89353 mRNA. Translation: AAC04619.1.
AF221714 mRNA. Translation: AAF34659.1.
AB051068 mRNA. Translation: BAB55448.1. Frameshift.
AC009260 Genomic DNA. No translation available.
AC069240 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW98066.1.
BC027942 mRNA. Translation: AAH27942.1.
RefSeqNP_000183.2. NM_000192.3.
NP_542448.1. NM_080717.2.
NP_852259.1. NM_181486.2.
UniGeneHs.381715.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2X6UX-ray1.90A51-251[»]
2X6VX-ray2.20A/B51-251[»]
ProteinModelPortalQ99593.
SMRQ99593. Positions 52-230.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112773. 5 interactions.
IntActQ99593. 7 interactions.
STRING9606.ENSP00000309913.

Chemistry

ChEMBLCHEMBL1687681.

PTM databases

PhosphoSiteQ99593.

Polymorphism databases

DMDM12644474.

Proteomic databases

PaxDbQ99593.
PRIDEQ99593.

Protocols and materials databases

DNASU6910.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310346; ENSP00000309913; ENSG00000089225. [Q99593-1]
ENST00000349716; ENSP00000337723; ENSG00000089225. [Q99593-3]
ENST00000405440; ENSP00000384152; ENSG00000089225. [Q99593-1]
ENST00000526441; ENSP00000433292; ENSG00000089225. [Q99593-2]
GeneID6910.
KEGGhsa:6910.
UCSCuc001tvo.4. human. [Q99593-1]
uc010syv.2. human. [Q99593-2]

Organism-specific databases

CTD6910.
GeneCardsGC12M114791.
HGNCHGNC:11604. TBX5.
HPAHPA008786.
MIM142900. phenotype.
601620. gene.
neXtProtNX_Q99593.
Orphanet392. Holt-Oram syndrome.
PharmGKBPA36367.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG320009.
HOGENOMHOG000286001.
HOVERGENHBG007310.
InParanoidQ99593.
KOK10179.
OMASKDLPCD.
OrthoDBEOG7GN2PM.
PhylomeDBQ99593.
TreeFamTF106341.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.

Gene expression databases

ArrayExpressQ99593.
BgeeQ99593.
CleanExHS_TBX5.
GenevestigatorQ99593.

Family and domain databases

Gene3D2.60.40.820. 1 hit.
InterProIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERPTHR11267. PTHR11267. 1 hit.
PfamPF00907. T-box. 1 hit.
[Graphical view]
PRINTSPR00937. TBOX.
SMARTSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMSSF49417. SSF49417. 1 hit.
PROSITEPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ99593.
GeneWikiTBX5_(gene).
GenomeRNAi6910.
NextBio27023.
PROQ99593.
SOURCESearch...

Entry information

Entry nameTBX5_HUMAN
AccessionPrimary (citable) accession number: Q99593
Secondary accession number(s): A6ND77 expand/collapse secondary AC list , O15301, Q96TB0, Q9Y4I2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 1, 2000
Last modified: April 16, 2014
This is version 144 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM