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Entry version 165 (08 May 2019)
Sequence version 3 (09 Jan 2007)
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Protein

Transforming acidic coiled-coil-containing protein 2

Gene

TACC2

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

Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). May play a role in organizing centrosomal microtubules. May act as a tumor suppressor protein. May represent a tumor progression marker.By similarity1 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>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:
Transforming acidic coiled-coil-containing protein 2
Alternative name(s):
Anti-Zuai-1
Short name:
AZU-1
<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:TACC2
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11523 TACC2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605302 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95359

<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

<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>Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, 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
10579

Open Targets

More...
OpenTargetsi
ENSG00000138162

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36300

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TACC2

<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_00001799881 – 2948Transforming acidic coiled-coil-containing protein 2Add BLAST2948

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 residuei197PhosphoserineCombined sources1
Modified residuei201PhosphoserineCombined sources1
Modified residuei269PhosphoserineCombined sources1
Modified residuei493PhosphoserineCombined sources1
Modified residuei561PhosphoserineCombined sources1
Modified residuei571PhosphoserineCombined sources1
Modified residuei575PhosphoserineCombined sources1
Modified residuei758PhosphoserineCombined sources1
Modified residuei962PhosphoserineCombined sources1
Modified residuei1025PhosphoserineCombined sources1
Modified residuei1267PhosphoserineCombined sources1
Modified residuei1313PhosphoserineCombined sources1
Modified residuei1562PhosphoserineCombined sources1
Modified residuei2072PhosphoserineCombined sources1
Modified residuei2161PhosphoserineBy similarity1
Modified residuei2226PhosphoserineCombined sources1
Modified residuei2246PhosphothreonineCombined sources1
Modified residuei2256PhosphoserineCombined sources1
Modified residuei2317PhosphoserineCombined sources1
Modified residuei2321PhosphoserineCombined sources1
Modified residuei2359PhosphoserineCombined sources1
Modified residuei2389PhosphoserineCombined sources1
Modified residuei2392PhosphoserineBy similarity1
Modified residuei2394PhosphoserineCombined sources1
Modified residuei2403PhosphoserineCombined sources1
Modified residuei2430PhosphothreonineCombined sources1
Modified residuei2451PhosphothreonineCombined sources1
Modified residuei2455PhosphothreonineCombined sources1
Modified residuei2458PhosphothreonineCombined sources1
Modified residuei2512PhosphoserineCombined sources1
Modified residuei2534PhosphoserineCombined sources1
Modified residuei2553PhosphothreonineBy similarity1
Modified residuei2557PhosphoserineCombined sources1
Modified residuei2569PhosphoserineCombined sources1
Isoform 2 (identifier: O95359-2)
Modified residuei325PhosphothreonineCombined sources1
Isoform 3 (identifier: O95359-3)
Modified residuei2625PhosphothreonineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by TTK; which is required for localization in centrosome.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O95359

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O95359

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

More...
PaxDbi
O95359

PeptideAtlas

More...
PeptideAtlasi
O95359

PRoteomics IDEntifications database

More...
PRIDEi
O95359

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50816
50817 [O95359-1]
50818 [O95359-2]
50819 [O95359-3]
50820 [O95359-5]
50821 [O95359-6]

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
O95359

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O95359

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

More...
PhosphoSitePlusi
O95359

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Strongly expressed in heart, skeletal muscle, brain, prostate, thyroid and trachea.2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal brain, lung, liver and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138162 Expressed in 222 organ(s), highest expression level in chorionic villus

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O95359 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O95359 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA031020
HPA031021
HPA061394

<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

Interacts with CCDC100/CEP120 (By similarity). Interacts with microtubules. Interacts with YEATS4, GCN5L2 and PCAF.By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115830, 26 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O95359

Protein interaction database and analysis system

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IntActi
O95359, 5 interactors

Molecular INTeraction database

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MINTi
O95359

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000358001

<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

3D structure databases

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

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SMRi
O95359

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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>Domaini2315 – 2403SPAZAdd BLAST89

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili2675 – 2703Sequence analysisAdd BLAST29
Coiled coili2746 – 2947Sequence analysisAdd BLAST202

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi482 – 549Pro-richAdd BLAST68
Compositional biasi1956 – 2016Pro-richAdd BLAST61
Compositional biasi2420 – 2423Poly-Lys4

<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 TACC family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IIVK Eukaryota
ENOG410YMFS LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157052

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O95359

KEGG Orthology (KO)

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KOi
K14282

Identification of Orthologs from Complete Genome Data

More...
OMAi
EEACQRD

Database of Orthologous Groups

More...
OrthoDBi
669540at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95359

TreeFam database of animal gene trees

More...
TreeFami
TF333149

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039915 TACC
IPR007707 TACC_C

The PANTHER Classification System

More...
PANTHERi
PTHR13924 PTHR13924, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05010 TACC_C, 1 hit

<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 (6+)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 6 <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
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 6 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 4 (identifier: O95359-4) [UniParc]FASTAAdd to basket
Also known as: Long, TACC2s

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
MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI
60 70 80 90 100
GSVGLGGFCT ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP
110 120 130 140 150
SQEREHPSSS MPFAECPPEG CLASPAAAPE DGPQTQSPRR EPAPNAPGDI
160 170 180 190 200
AAAFPAERDS STPYQEIAAV PSAGRERQPK EEGQKSSFSF SSGIDQSPGM
210 220 230 240 250
SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR QGVASVQVTP
260 270 280 290 300
EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
310 320 330 340 350
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL
360 370 380 390 400
PSPALVPEAG GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG
410 420 430 440 450
LPVSPEPSLL TPTEEAHPAS SLASFPAAQI PIAVEEPGSS SRESVSKAGM
460 470 480 490 500
PVSADAAKEV VDAGLVGLER QVSDLGSKGE HPEGDPGEVP APSPQERGEH
510 520 530 540 550
LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS ESARGPPGPT
560 570 580 590 600
DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
610 620 630 640 650
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ
660 670 680 690 700
TAEADASGLP HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT
710 720 730 740 750
LQSREGLGRM ESFLTLESEK SDFPPTPVAE VAPKAQEGES TLEIRKMGSC
760 770 780 790 800
DGEGLLTSPD QPRGPACDAS RQEFHAGVPH PPQGENLAAD LGLTALILDQ
810 820 830 840 850
DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS IFDVLKEQAQ
860 870 880 890 900
PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
910 920 930 940 950
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE
960 970 980 990 1000
GACGDGQSSR VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA
1010 1020 1030 1040 1050
LEEGSQHEEA CQRHPGASEA ADGCSPLWGL SKREMASGNT GEAPPCQPDS
1060 1070 1080 1090 1100
VALLDAVPCL PALAPASPGV TPTQDAPETE ACDETQEGRQ QPVPAPQQKM
1110 1120 1130 1140 1150
ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD PGKQQAPEKP
1160 1170 1180 1190 1200
GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
1210 1220 1230 1240 1250
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED
1260 1270 1280 1290 1300
SGVKAVSSAD PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA
1310 1320 1330 1340 1350
GGEIPAVQAS SGSPKARTTE GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA
1360 1370 1380 1390 1400
PGAGAKASGE GMAGDAAGET EGSMERMGEP SQDPKQGTSG GVDTSSEQIA
1410 1420 1430 1440 1450
TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK DLTRPLGPEK
1460 1470 1480 1490 1500
LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
1510 1520 1530 1540 1550
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE
1560 1570 1580 1590 1600
RSRQELASGL PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH
1610 1620 1630 1640 1650
QETSACDSPH GEDGPGDFAH TGVPGHVPRS TCAPSPQREV LTVPEANSEP
1660 1670 1680 1690 1700
WTLDTLGGER RPGVTAGILE MRNALGNQST PAPPTGEVAD TPLEPGKVAG
1710 1720 1730 1740 1750
AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL VLPGSCQDPA
1760 1770 1780 1790 1800
CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
1810 1820 1830 1840 1850
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET
1860 1870 1880 1890 1900
RGAEGTESSP VADDIIQPAA PADLESPTLA ASSYHGDVVG QVSTDLIAQS
1910 1920 1930 1940 1950
ISPAAAHAGL PPSAAEHIVS PSAPAGDRVE ASTPSCPDPA KDLSRSSDSE
1960 1970 1980 1990 2000
EAFETPESTT PVKAPPAPPP PPPEVIPEPE VSTQPPPEEP GCGSETVPVP
2010 2020 2030 2040 2050
DGPRSDSVEG SPFRPPSHSF SAVFDEDKPI ASSGTYNLDF DNIELVDTFQ
2060 2070 2080 2090 2100
TLEPRASDAK NQEGKVNTRR KSTDSVPISK STLSRSLSLQ ASDFDGASSS
2110 2120 2130 2140 2150
GNPEAVALAP DAYSTGSSSA SSTLKRTKKP RPPSLKKKQT TKKPTETPPV
2160 2170 2180 2190 2200
KETQQEPDEE SLVPSGENLA SETKTESAKT EGPSPALLEE TPLEPAVGPK
2210 2220 2230 2240 2250
AACPLDSESA EGVVPPASGG GRVQNSPPVG RKTLPLTTAP EAGEVTPSDS
2260 2270 2280 2290 2300
GGQEDSPAKG LSVRLEFDYS EDKSSWDNQQ ENPPPTKKIG KKPVAKMPLR
2310 2320 2330 2340 2350
RPKMKKTPEK LDNTPASPPR SPAEPNDIPI AKGTYTFDID KWDDPNFNPF
2360 2370 2380 2390 2400
SSTSKMQESP KLPQQSYNFD PDTCDESVDP FKTSSKTPSS PSKSPASFEI
2410 2420 2430 2440 2450
PASAMEANGV DGDGLNKPAK KKKTPLKTDT FRVKKSPKRS PLSDPPSQDP
2460 2470 2480 2490 2500
TPAATPETPP VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD
2510 2520 2530 2540 2550
LSTFVNETKF SSPTEELDYR NSYEIEYMEK IGSSLPQDDD APKKQALYLM
2560 2570 2580 2590 2600
FDTSQESPVK SSPVRMSESP TPCSGSSFEE TEALVNTAAK NQHPVPRGLA
2610 2620 2630 2640 2650
PNQESHLQVP EKSSQKELEA MGLGTPSEAI EITAPEGSFA SADALLSRLA
2660 2670 2680 2690 2700
HPVSLCGALD YLEPDLAEKN PPLFAQKLQE ELEFAIMRIE ALKLARQIAL
2710 2720 2730 2740 2750
ASRSHQDAKR EAAHPTDVSI SKTALYSRIG TAEVEKPAGL LFQQPDLDSA
2760 2770 2780 2790 2800
LQIARAEIIT KEREVSEWKD KYEESRREVM EMRKIVAEYE KTIAQMIEDE
2810 2820 2830 2840 2850
QREKSVSHQT VQQLVLEKEQ ALADLNSVEK SLADLFRRYE KMKEVLEGFR
2860 2870 2880 2890 2900
KNEEVLKRCA QEYLSRVKKE EQRYQALKVH AEEKLDRANA EIAQVRGKAQ
2910 2920 2930 2940
QEQAAHQASL RKEQLRVDAL ERTLEQKNKE IEELTKICDE LIAKMGKS
Length:2,948
Mass (Da):309,427
Last modified:January 9, 2007 - v3
<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:i9DC4CC5231A5ADBD
GO
Isoform 1 (identifier: O95359-1) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-1922: Missing.
     1923-1945: APAGDRVEASTPSCPDPAKDLSR → MGGSQSLQPAPASDLNLEASEAM

Show »
Length:1,026
Mass (Da):112,111
Checksum:iE2575FCB446E9CF8
GO
Isoform 2 (identifier: O95359-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2296: Missing.
     2429-2432: Missing.
     2633-2709: Missing.

Show »
Length:571
Mass (Da):64,156
Checksum:i0C89A2D8C537269B
GO
Isoform 3 (identifier: O95359-3) [UniParc]FASTAAdd to basket
Also known as: ECTACC

The sequence of this isoform differs from the canonical sequence as follows:
     2633-2709: Missing.

Show »
Length:2,871
Mass (Da):301,058
Checksum:iFC2C1DE101824B9D
GO
Isoform 5 (identifier: O95359-5) [UniParc]FASTAAdd to basket
Also known as: TACC21

The sequence of this isoform differs from the canonical sequence as follows:
     49-1857: Missing.
     1900-1944: Missing.

Show »
Length:1,094
Mass (Da):119,359
Checksum:i99E9A4FC30C86B52
GO
Isoform 6 (identifier: O95359-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1922: Missing.
     1923-1945: APAGDRVEASTPSCPDPAKDLSR → MGGSQSLQPAPASDLNLEASEAM
     2680-2709: Missing.

Show »
Length:996
Mass (Da):108,690
Checksum:iE1DCE1E83FB72A71
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 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q4VXL8Q4VXL8_HUMAN
Transforming acidic coiled-coil-con...
TACC2
1,038Annotation score:

Annotation score:2 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>
D6RAA5D6RAA5_HUMAN
Transforming acidic coiled-coil-con...
TACC2
1,008Annotation score:

Annotation score:2 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>
Q4VXL4Q4VXL4_HUMAN
HCG41426, isoform CRA_c
TACC2 hCG_41426
575Annotation score:

Annotation score:2 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>
E7EMZ9E7EMZ9_HUMAN
Transforming acidic coiled-coil-con...
TACC2
2,826Annotation score:

Annotation score:2 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>
E9PBC6E9PBC6_HUMAN
Transforming acidic coiled-coil-con...
TACC2
2,875Annotation score:

Annotation score:2 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>
H0Y911H0Y911_HUMAN
Transforming acidic coiled-coil-con...
TACC2
409Annotation score:

Annotation score:2 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>
E9PGB3E9PGB3_HUMAN
Transforming acidic coiled-coil-con...
TACC2
669Annotation score:

Annotation score:2 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>
H0Y8P9H0Y8P9_HUMAN
Transforming acidic coiled-coil-con...
TACC2
184Annotation 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>
H0YA73H0YA73_HUMAN
Transforming acidic coiled-coil-con...
TACC2
189Annotation 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>
H0Y9Y7H0Y9Y7_HUMAN
Transforming acidic coiled-coil-con...
TACC2
165Annotation 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>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF29537 differs from that shown. Intron retention.Curated
The sequence AAF63433 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti2896R → Q in AAO62629 (PubMed:12620397).Curated1
Sequence conflicti2896R → Q in AAO62630 (PubMed:12620397).Curated1
Sequence conflicti2909S → T in AAH39311 (PubMed:15489334).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_053706170V → I. Corresponds to variant dbSNP:rs11200385Ensembl.1
Natural variantiVAR_036381798L → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_053707830L → F1 PublicationCorresponds to variant dbSNP:rs10887063Ensembl.1
Natural variantiVAR_0537081103W → R1 PublicationCorresponds to variant dbSNP:rs7073433Ensembl.1
Natural variantiVAR_0363821347A → S in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0537091425A → T. Corresponds to variant dbSNP:rs4752642Ensembl.1
Natural variantiVAR_0537101492P → L. Corresponds to variant dbSNP:rs7920896Ensembl.1
Natural variantiVAR_0537111916E → K. Corresponds to variant dbSNP:rs12765679Ensembl.1
Natural variantiVAR_0298032078I → T. Corresponds to variant dbSNP:rs7083331Ensembl.1
Natural variantiVAR_0204782102N → S. Corresponds to variant dbSNP:rs3750843Ensembl.1
Natural variantiVAR_0204792197V → A. Corresponds to variant dbSNP:rs2295873Ensembl.1
Natural variantiVAR_0298042210A → V. Corresponds to variant dbSNP:rs2295874Ensembl.1
Natural variantiVAR_0537122216P → L. Corresponds to variant dbSNP:rs2295875Ensembl.1
Natural variantiVAR_0204802261L → H. Corresponds to variant dbSNP:rs2295876Ensembl.1
Natural variantiVAR_0537132271E → D. Corresponds to variant dbSNP:rs11200483Ensembl.1
Natural variantiVAR_0204812718V → I. Corresponds to variant dbSNP:rs2295878Ensembl.1
Natural variantiVAR_0204822732A → T1 PublicationCorresponds to variant dbSNP:rs2295879Ensembl.1
Natural variantiVAR_0298052900Q → K1 PublicationCorresponds to variant dbSNP:rs1063627Ensembl.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_0221511 – 2296Missing in isoform 2. 1 PublicationAdd BLAST2296
Alternative sequenceiVSP_0221531 – 1922Missing in isoform 1 and isoform 6. 2 PublicationsAdd BLAST1922
Alternative sequenceiVSP_02215449 – 1857Missing in isoform 5. 1 PublicationAdd BLAST1809
Alternative sequenceiVSP_0221551900 – 1944Missing in isoform 5. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_0221561923 – 1945APAGD…KDLSR → MGGSQSLQPAPASDLNLEAS EAM in isoform 1 and isoform 6. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_0063682429 – 2432Missing in isoform 2. 1 Publication4
Alternative sequenceiVSP_0063692633 – 2709Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST77
Alternative sequenceiVSP_0221582680 – 2709Missing in isoform 6. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF176646 mRNA Translation: AAF63433.1 Different initiation.
AF095791 mRNA Translation: AAC64968.2
AF528098 mRNA Translation: AAO62629.1
AF528099 mRNA Translation: AAO62630.1
AC063960 Genomic DNA No translation available.
AL135793 Genomic DNA No translation available.
BC000999 mRNA Translation: AAH00999.1
BC039311 mRNA Translation: AAH39311.1
AF220152 mRNA Translation: AAF29537.2 Sequence problems.
AL713712 mRNA Translation: CAD28509.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7625.1 [O95359-5]
CCDS7626.1 [O95359-4]
CCDS7627.1 [O95359-1]
CCDS7628.1 [O95359-6]

NCBI Reference Sequences

More...
RefSeqi
NP_001278807.1, NM_001291878.1
NP_008928.1, NM_006997.3 [O95359-1]
NP_996742.1, NM_206860.2 [O95359-6]
NP_996743.1, NM_206861.2 [O95359-5]
NP_996744.3, NM_206862.3 [O95359-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000260733; ENSP00000260733; ENSG00000138162 [O95359-1]
ENST00000334433; ENSP00000334280; ENSG00000138162 [O95359-4]
ENST00000358010; ENSP00000350701; ENSG00000138162 [O95359-5]
ENST00000360561; ENSP00000353763; ENSG00000138162 [O95359-6]
ENST00000369000; ENSP00000357996; ENSG00000138162 [O95359-2]
ENST00000369005; ENSP00000358001; ENSG00000138162 [O95359-4]
ENST00000513429; ENSP00000425062; ENSG00000138162 [O95359-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10579

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10579

UCSC genome browser

More...
UCSCi
uc001lfv.4 human [O95359-4]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF176646 mRNA Translation: AAF63433.1 Different initiation.
AF095791 mRNA Translation: AAC64968.2
AF528098 mRNA Translation: AAO62629.1
AF528099 mRNA Translation: AAO62630.1
AC063960 Genomic DNA No translation available.
AL135793 Genomic DNA No translation available.
BC000999 mRNA Translation: AAH00999.1
BC039311 mRNA Translation: AAH39311.1
AF220152 mRNA Translation: AAF29537.2 Sequence problems.
AL713712 mRNA Translation: CAD28509.1
CCDSiCCDS7625.1 [O95359-5]
CCDS7626.1 [O95359-4]
CCDS7627.1 [O95359-1]
CCDS7628.1 [O95359-6]
RefSeqiNP_001278807.1, NM_001291878.1
NP_008928.1, NM_006997.3 [O95359-1]
NP_996742.1, NM_206860.2 [O95359-6]
NP_996743.1, NM_206861.2 [O95359-5]
NP_996744.3, NM_206862.3 [O95359-4]

3D structure databases

SMRiO95359
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115830, 26 interactors
CORUMiO95359
IntActiO95359, 5 interactors
MINTiO95359
STRINGi9606.ENSP00000358001

PTM databases

CarbonylDBiO95359
iPTMnetiO95359
PhosphoSitePlusiO95359

Polymorphism and mutation databases

BioMutaiTACC2

Proteomic databases

EPDiO95359
jPOSTiO95359
PaxDbiO95359
PeptideAtlasiO95359
PRIDEiO95359
ProteomicsDBi50816
50817 [O95359-1]
50818 [O95359-2]
50819 [O95359-3]
50820 [O95359-5]
50821 [O95359-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260733; ENSP00000260733; ENSG00000138162 [O95359-1]
ENST00000334433; ENSP00000334280; ENSG00000138162 [O95359-4]
ENST00000358010; ENSP00000350701; ENSG00000138162 [O95359-5]
ENST00000360561; ENSP00000353763; ENSG00000138162 [O95359-6]
ENST00000369000; ENSP00000357996; ENSG00000138162 [O95359-2]
ENST00000369005; ENSP00000358001; ENSG00000138162 [O95359-4]
ENST00000513429; ENSP00000425062; ENSG00000138162 [O95359-5]
GeneIDi10579
KEGGihsa:10579
UCSCiuc001lfv.4 human [O95359-4]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10579
DisGeNETi10579

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TACC2
HGNCiHGNC:11523 TACC2
HPAiHPA031020
HPA031021
HPA061394
MIMi605302 gene
neXtProtiNX_O95359
OpenTargetsiENSG00000138162
PharmGKBiPA36300

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIVK Eukaryota
ENOG410YMFS LUCA
GeneTreeiENSGT00940000157052
InParanoidiO95359
KOiK14282
OMAiEEACQRD
OrthoDBi669540at2759
PhylomeDBiO95359
TreeFamiTF333149

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TACC2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TACC2

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

More...
GenomeRNAii
10579

Protein Ontology

More...
PROi
PR:O95359

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138162 Expressed in 222 organ(s), highest expression level in chorionic villus
ExpressionAtlasiO95359 baseline and differential
GenevisibleiO95359 HS

Family and domain databases

InterProiView protein in InterPro
IPR039915 TACC
IPR007707 TACC_C
PANTHERiPTHR13924 PTHR13924, 1 hit
PfamiView protein in Pfam
PF05010 TACC_C, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<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 nameiTACC2_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: O95359
Secondary accession number(s): Q4VXL0
, Q4VXL3, Q4VXL6, Q4VXL7, Q5U5T7, Q86WG6, Q86WG7, Q8TCK9, Q9BVQ1, Q9NZ41, Q9NZR5
<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: April 27, 2001
Last sequence update: January 9, 2007
Last modified: May 8, 2019
This is version 165 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
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