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Protein

Telomerase protein component 1

Gene

TEP1

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

Functioni

Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini. Also component of the ribonucleoprotein vaults particle, a multi-subunit structure involved in nucleo-cytoplasmic transport. Responsible for the localizing and stabilizing vault RNA (vRNA) association in the vault ribonucleoprotein particle. Binds to TERC (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi1168 – 1175ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • enzyme binding Source: BHF-UCL
  • p53 binding Source: BHF-UCL
  • RNA binding Source: UniProtKB
  • telomerase activity Source: Ensembl
  • telomerase RNA binding Source: BHF-UCL

GO - Biological processi

  • telomere maintenance via recombination Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ribonucleoprotein

Keywords - Ligandi

ATP-binding, Nucleotide-binding, RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000129566-MONOMER.
SignaLinkiQ99973.

Names & Taxonomyi

Protein namesi
Recommended name:
Telomerase protein component 1
Alternative name(s):
Telomerase-associated protein 1
Short name:
Telomerase protein 1
p240
p80 telomerase homolog
Gene namesi
Name:TEP1
Synonyms:TLP1, TP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:11726. TEP1.

Subcellular locationi

GO - Cellular componenti

  • chromosome, telomeric region Source: UniProtKB-SubCell
  • cytoplasm Source: MGI
  • intracellular ribonucleoprotein complex Source: UniProtKB
  • nuclear matrix Source: MGI
  • telomerase holoenzyme complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

Pathology & Biotechi

Organism-specific databases

DisGeNETi7011.
OpenTargetsiENSG00000129566.
PharmGKBiPA36443.

Polymorphism and mutation databases

BioMutaiTEP1.
DMDMi215273899.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000509821 – 2627Telomerase protein component 1Add BLAST2627

Proteomic databases

EPDiQ99973.
MaxQBiQ99973.
PaxDbiQ99973.
PeptideAtlasiQ99973.
PRIDEiQ99973.

PTM databases

iPTMnetiQ99973.
PhosphoSitePlusiQ99973.
SwissPalmiQ99973.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000129566.
CleanExiHS_TEP1.
ExpressionAtlasiQ99973. baseline and differential.
GenevisibleiQ99973. HS.

Organism-specific databases

HPAiHPA029206.

Interactioni

Subunit structurei

Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Component of the vault ribonucleoprotein particle, at least composed of MVP, PARP4 and one or more vault RNAs (vRNAs). Binds to VAULTRC1, VAULTRC2 and VAULTRC4/hvg4 vRNAs (By similarity).By similarity

GO - Molecular functioni

  • enzyme binding Source: BHF-UCL
  • p53 binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi112870. 13 interactors.
IntActiQ99973. 1 interactor.
MINTiMINT-112815.
STRINGi9606.ENSP00000262715.

Structurei

3D structure databases

ProteinModelPortaliQ99973.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1 – 30TEP1 N-terminal 1Add BLAST30
Repeati31 – 60TEP1 N-terminal 2Add BLAST30
Repeati61 – 90TEP1 N-terminal 3Add BLAST30
Repeati91 – 120TEP1 N-terminal 4Add BLAST30
Domaini223 – 676TROVEPROSITE-ProRule annotationAdd BLAST454
Domaini1162 – 1490NACHTPROSITE-ProRule annotationAdd BLAST329
Repeati1411 – 1448WD 1Add BLAST38
Repeati1674 – 1713WD 2Add BLAST40
Repeati1716 – 1754WD 3Add BLAST39
Repeati1757 – 1796WD 4Add BLAST40
Repeati1798 – 1837WD 5Add BLAST40
Repeati1840 – 1879WD 6Add BLAST40
Repeati1882 – 1921WD 7Add BLAST40
Repeati1925 – 1964WD 8Add BLAST40
Repeati1967 – 2005WD 9Add BLAST39
Repeati2008 – 2047WD 10Add BLAST40
Repeati2059 – 2098WD 11Add BLAST40
Repeati2105 – 2143WD 12Add BLAST39
Repeati2146 – 2183WD 13Add BLAST38
Repeati2185 – 2233WD 14Add BLAST49
Repeati2236 – 2275WD 15Add BLAST40
Repeati2278 – 2317WD 16Add BLAST40
Repeati2319 – 2355WD 17Add BLAST37
Repeati2368 – 2417WD 18Add BLAST50
Repeati2459 – 2500WD 19Add BLAST42
Repeati2553 – 2590WD 20Add BLAST38
Repeati2592 – 2626WD 21Add BLAST35

Sequence similaritiesi

Contains 1 NACHT domain.PROSITE-ProRule annotation
Contains 4 TEP1 N-terminal repeats.PROSITE-ProRule annotation
Contains 1 TROVE domain.PROSITE-ProRule annotation
Contains 21 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG3602. Eukaryota.
KOG4155. Eukaryota.
ENOG410XP3K. LUCA.
GeneTreeiENSGT00860000133867.
HOGENOMiHOG000154545.
HOVERGENiHBG059633.
InParanoidiQ99973.
KOiK11127.
OMAiAQLWKTC.
OrthoDBiEOG091G003L.
PhylomeDBiQ99973.
TreeFamiTF328424.

Family and domain databases

Gene3Di2.130.10.10. 7 hits.
3.40.50.300. 1 hit.
InterProiIPR025139. DUF4062.
IPR007111. NACHT_NTPase.
IPR027417. P-loop_NTPase.
IPR008850. TEP1_N.
IPR008858. TROVE_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF13271. DUF4062. 1 hit.
PF05386. TEP1_N. 4 hits.
PF05731. TROVE. 1 hit.
PF00400. WD40. 5 hits.
[Graphical view]
SMARTiSM00320. WD40. 18 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 5 hits.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50837. NACHT. 1 hit.
PS51226. TEP1_N. 4 hits.
PS50988. TROVE. 1 hit.
PS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 7 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q99973-1) [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
MEKLHGHVSA HPDILSLENR CLAMLPDLQP LEKLHQHVST HSDILSLKNQ
60 70 80 90 100
CLATLPDLKT MEKPHGYVSA HPDILSLENQ CLATLSDLKT MEKPHGHVSA
110 120 130 140 150
HPDILSLENR CLATLSSLKS TVSASPLFQS LQISHMTQAD LYRVNNSNCL
160 170 180 190 200
LSEPPSWRAQ HFSKGLDLST CPIALKSISA TETAQEATLG RWFDSEEKKG
210 220 230 240 250
AETQMPSYSL SLGEEEEVED LAVKLTSGDS ESHPEPTDHV LQEKKMALLS
260 270 280 290 300
LLCSTLVSEV NMNNTSDPTL AAIFEICREL ALLEPEFILK ASLYARQQLN
310 320 330 340 350
VRNVANNILA IAAFLPACRP HLRRYFCAIV QLPSDWIQVA ELYQSLAEGD
360 370 380 390 400
KNKLVPLPAC LRTAMTDKFA QFDEYQLAKY NPRKHRAKRH PRRPPRSPGM
410 420 430 440 450
EPPFSHRCFP RYIGFLREEQ RKFEKAGDTV SEKKNPPRFT LKKLVQRLHI
460 470 480 490 500
HKPAQHVQAL LGYRYPSNLQ LFSRSRLPGP WDSSRAGKRM KLSRPETWER
510 520 530 540 550
ELSLRGNKAS VWEELIENGK LPFMAMLRNL CNLLRVGISS RHHELILQRL
560 570 580 590 600
QHAKSVIHSR QFPFRFLNAH DAIDALEAQL RNQALPFPSN ITLMRRILTR
610 620 630 640 650
NEKNRPRRRF LCHLSRQQLR MAMRIPVLYE QLKREKLRVH KARQWKYDGE
660 670 680 690 700
MLNRYRQALE TAVNLSVKHS LPLLPGRTVL VYLTDANADR LCPKSNPQGP
710 720 730 740 750
PLNYALLLIG MMITRAEQVD VVLCGGDTLK TAVLKAEEGI LKTAIKLQAQ
760 770 780 790 800
VQEFDENDGW SLNTFGKYLL SLAGQRVPVD RVILLGQSMD DGMINVAKQL
810 820 830 840 850
YWQRVNSKCL FVGILLRRVQ YLSTDLNPND VTLSGCTDAI LKFIAEHGAS
860 870 880 890 900
HLLEHVGQMD KIFKIPPPPG KTGVQSLRPL EEDTPSPLAP VSQQGWRSIR
910 920 930 940 950
LFISSTFRDM HGERDLLLRS VLPALQARAA PHRISLHGID LRWGVTEEET
960 970 980 990 1000
RRNRQLEVCL GEVENAQLFV GILGSRYGYI PPSYNLPDHP HFHWAQQYPS
1010 1020 1030 1040 1050
GRSVTEMEVM QFLNRNQRLQ PSAQALIYFR DSSFLSSVPD AWKSDFVSES
1060 1070 1080 1090 1100
EEAARRISEL KSYLSRQKGI TCRRYPCEWG GVAAGRPYVG GLEEFGQLVL
1110 1120 1130 1140 1150
QDVWNMIQKL YLQPGALLEQ PVSIPDDDLV QATFQQLQKP PSPARPRLLQ
1160 1170 1180 1190 1200
DTVQRLMLPH GRLSLVTGQS GQGKTAFLAS LVSALQAPDG AKVASLVFFH
1210 1220 1230 1240 1250
FSGARPDQGL ALTLLRRLCT YLRGQLKEPG ALPSTYRSLV WELQQRLLPK
1260 1270 1280 1290 1300
SAESLHPGQT QVLIIDGADR LVDQNGQLIS DWIPKKLPRC VHLVLSVSSD
1310 1320 1330 1340 1350
AGLGETLEQS QGAHVLALGP LEASARARLV REELALYGKR LEESPFNNQM
1360 1370 1380 1390 1400
RLLLVKRESG RPLYLRLVTD HLRLFTLYEQ VSERLRTLPA TVPLLLQHIL
1410 1420 1430 1440 1450
STLEKEHGPD VLPQALTALE VTRSGLTVDQ LHGVLSVWRT LPKGTKSWEE
1460 1470 1480 1490 1500
AVAAGNSGDP YPMGPFACLV QSLRSLLGEG PLERPGARLC LPDGPLRTAA
1510 1520 1530 1540 1550
KRCYGKRPGL EDTAHILIAA QLWKTCDADA SGTFRSCPPE ALGDLPYHLL
1560 1570 1580 1590 1600
QSGNRGLLSK FLTNLHVVAA HLELGLVSRL LEAHALYASS VPKEEQKLPE
1610 1620 1630 1640 1650
ADVAVFRTFL RQQASILSQY PRLLPQQAAN QPLDSPLCHQ ASLLSRRWHL
1660 1670 1680 1690 1700
QHTLRWLNKP RTMKNQQSSS LSLAVSSSPT AVAFSTNGQR AAVGTANGTV
1710 1720 1730 1740 1750
YLLDLRTWQE EKSVVSGCDG ISACLFLSDD TLFLTAFDGL LELWDLQHGC
1760 1770 1780 1790 1800
RVLQTKAHQY QITGCCLSPD CRLLATVCLG GCLKLWDTVR GQLAFQHTYP
1810 1820 1830 1840 1850
KSLNCVAFHP EGQVIATGSW AGSISFFQVD GLKVTKDLGA PGASIRTLAF
1860 1870 1880 1890 1900
NVPGGVVAVG RLDSMVELWA WREGARLAAF PAHHGFVAAA LFLHAGCQLL
1910 1920 1930 1940 1950
TAGEDGKVQV WSGSLGRPRG HLGSLSLSPA LSVALSPDGD RVAVGYRADG
1960 1970 1980 1990 2000
IRIYKISSGS QGAQGQALDV AVSALAWLSP KVLVSGAEDG SLQGWALKEC
2010 2020 2030 2040 2050
SLQSLWLLSR FQKPVLGLAT SQELLASASE DFTVQLWPRQ LLTRPHKAED
2060 2070 2080 2090 2100
FPCGTELRGH EGPVSCCSFS TDGGSLATGG RDRSLLCWDV RTPKTPVLIH
2110 2120 2130 2140 2150
SFPACHRDWV TGCAWTKDNL LISCSSDGSV GLWDPESGQR LGQFLGHQSA
2160 2170 2180 2190 2200
VSAVAAVEEH VVSVSRDGTL KVWDHQGVEL TSIPAHSGPI SHCAAAMEPR
2210 2220 2230 2240 2250
AAGQPGSELL VVTVGLDGAT RLWHPLLVCQ THTLLGHSGP VRAAAVSETS
2260 2270 2280 2290 2300
GLMLTASEDG SVRLWQVPKE ADDTCIPRSS AAVTAVAWAP DGSMAVSGNQ
2310 2320 2330 2340 2350
AGELILWQEA KAVATAQAPG HIGALIWSSA HTFFVLSADE KISEWQVKLR
2360 2370 2380 2390 2400
KGSAPGNLSL HLNRILQEDL GVLTSLDWAP DGHFLILAKA DLKLLCMKPG
2410 2420 2430 2440 2450
DAPSEIWSSY TENPMILSTH KEYGIFVLQP KDPGVLSFLR QKESGEFEER
2460 2470 2480 2490 2500
LNFDINLENP SRTLISITQA KPESESSFLC ASSDGILWNL AKCSPEGEWT
2510 2520 2530 2540 2550
TGNMWQKKAN TPETQTPGTD PSTCRESDAS MDSDASMDSE PTPHLKTRQR
2560 2570 2580 2590 2600
RKIHSGSVTA LHVLPELLVT ASKDRDVKLW ERPSMQLLGL FRCEGSVSCL
2610 2620
EPWLGANSTL QLAVGDVQGN VYFLNWE
Length:2,627
Mass (Da):290,490
Last modified:November 25, 2008 - v2
Checksum:i32628238704A8860
GO
Isoform 2 (identifier: Q99973-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2475-2506: ESSFLCASSDGILWNLAKCSPEGEWTTGNMWQ → ALMGSYGTWPNAAQKENGPQVTCGR

Note: May be due to an exon inclusion.
Show »
Length:2,620
Mass (Da):289,578
Checksum:iD512FB76402A71C4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018490116S → P.1 PublicationCorresponds to variant rs1760897dbSNPEnsembl.1
Natural variantiVAR_047631137T → M.Corresponds to variant rs10083536dbSNPEnsembl.1
Natural variantiVAR_018491307N → K.Corresponds to variant rs1760898dbSNPEnsembl.1
Natural variantiVAR_047632368K → R.Corresponds to variant rs2228035dbSNPEnsembl.1
Natural variantiVAR_047633434K → N.Corresponds to variant rs17111188dbSNPEnsembl.1
Natural variantiVAR_047634510S → L.Corresponds to variant rs4982051dbSNPEnsembl.1
Natural variantiVAR_047635553A → G.1 PublicationCorresponds to variant rs2228040dbSNPEnsembl.1
Natural variantiVAR_047636933R → H.Corresponds to variant rs34179031dbSNPEnsembl.1
Natural variantiVAR_0184921055R → C.1 PublicationCorresponds to variant rs1760903dbSNPEnsembl.1
Natural variantiVAR_0476371155R → Q.1 PublicationCorresponds to variant rs2228041dbSNPEnsembl.1
Natural variantiVAR_0184931195S → P.1 PublicationCorresponds to variant rs1760904dbSNPEnsembl.1
Natural variantiVAR_0476381351R → Q.Corresponds to variant rs12886088dbSNPEnsembl.1
Natural variantiVAR_0476391408G → R.Corresponds to variant rs2229100dbSNPEnsembl.1
Natural variantiVAR_0184941447S → T.Corresponds to variant rs1713457dbSNPEnsembl.1
Natural variantiVAR_0184951468C → Y.Corresponds to variant rs1713456dbSNPEnsembl.1
Natural variantiVAR_0476401661R → Q.Corresponds to variant rs34401320dbSNPEnsembl.1
Natural variantiVAR_0476411772R → Q.Corresponds to variant rs8022805dbSNPEnsembl.1
Natural variantiVAR_0184962214V → I.Corresponds to variant rs1713449dbSNPEnsembl.1
Natural variantiVAR_0476422310A → S.Corresponds to variant rs35929175dbSNPEnsembl.1
Natural variantiVAR_0184972486I → M.Corresponds to variant rs938886dbSNPEnsembl.1
Natural variantiVAR_0184982562H → R.Corresponds to variant rs2104978dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0103592475 – 2506ESSFL…GNMWQ → ALMGSYGTWPNAAQKENGPQ VTCGR in isoform 2. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U86136 mRNA. Translation: AAC51107.1.
BC126107 mRNA. Translation: AAI26108.1.
BX640983 mRNA. Translation: CAE45993.1.
CCDSiCCDS9548.1. [Q99973-1]
RefSeqiNP_009041.2. NM_007110.4. [Q99973-1]
XP_005268084.1. XM_005268027.4. [Q99973-1]
UniGeneiHs.508835.

Genome annotation databases

EnsembliENST00000262715; ENSP00000262715; ENSG00000129566. [Q99973-1]
GeneIDi7011.
KEGGihsa:7011.
UCSCiuc001vxe.4. human. [Q99973-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U86136 mRNA. Translation: AAC51107.1.
BC126107 mRNA. Translation: AAI26108.1.
BX640983 mRNA. Translation: CAE45993.1.
CCDSiCCDS9548.1. [Q99973-1]
RefSeqiNP_009041.2. NM_007110.4. [Q99973-1]
XP_005268084.1. XM_005268027.4. [Q99973-1]
UniGeneiHs.508835.

3D structure databases

ProteinModelPortaliQ99973.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112870. 13 interactors.
IntActiQ99973. 1 interactor.
MINTiMINT-112815.
STRINGi9606.ENSP00000262715.

PTM databases

iPTMnetiQ99973.
PhosphoSitePlusiQ99973.
SwissPalmiQ99973.

Polymorphism and mutation databases

BioMutaiTEP1.
DMDMi215273899.

Proteomic databases

EPDiQ99973.
MaxQBiQ99973.
PaxDbiQ99973.
PeptideAtlasiQ99973.
PRIDEiQ99973.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262715; ENSP00000262715; ENSG00000129566. [Q99973-1]
GeneIDi7011.
KEGGihsa:7011.
UCSCiuc001vxe.4. human. [Q99973-1]

Organism-specific databases

CTDi7011.
DisGeNETi7011.
GeneCardsiTEP1.
H-InvDBHIX0026646.
HGNCiHGNC:11726. TEP1.
HPAiHPA029206.
MIMi601686. gene.
neXtProtiNX_Q99973.
OpenTargetsiENSG00000129566.
PharmGKBiPA36443.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3602. Eukaryota.
KOG4155. Eukaryota.
ENOG410XP3K. LUCA.
GeneTreeiENSGT00860000133867.
HOGENOMiHOG000154545.
HOVERGENiHBG059633.
InParanoidiQ99973.
KOiK11127.
OMAiAQLWKTC.
OrthoDBiEOG091G003L.
PhylomeDBiQ99973.
TreeFamiTF328424.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000129566-MONOMER.
SignaLinkiQ99973.

Miscellaneous databases

ChiTaRSiTEP1. human.
GeneWikiiTEP1.
GenomeRNAii7011.
PROiQ99973.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129566.
CleanExiHS_TEP1.
ExpressionAtlasiQ99973. baseline and differential.
GenevisibleiQ99973. HS.

Family and domain databases

Gene3Di2.130.10.10. 7 hits.
3.40.50.300. 1 hit.
InterProiIPR025139. DUF4062.
IPR007111. NACHT_NTPase.
IPR027417. P-loop_NTPase.
IPR008850. TEP1_N.
IPR008858. TROVE_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF13271. DUF4062. 1 hit.
PF05386. TEP1_N. 4 hits.
PF05731. TROVE. 1 hit.
PF00400. WD40. 5 hits.
[Graphical view]
SMARTiSM00320. WD40. 18 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 5 hits.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50837. NACHT. 1 hit.
PS51226. TEP1_N. 4 hits.
PS50988. TROVE. 1 hit.
PS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 7 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTEP1_HUMAN
AccessioniPrimary (citable) accession number: Q99973
Secondary accession number(s): A0AUV9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 149 of the entry and version 2 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

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.