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Protein

Tapasin-related protein

Gene

TAPBPL

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

Functioni

Component of the antigen processing and presentation pathway, which binds to MHC class I coupled with beta2-microglobulin/B2M. Association between TAPBPR and MHC class I occurs in the absence of a functional peptide-loading complex (PLC). Expression seems to slow down and down-regulate MHC class I surface expression.1 Publication

GO - Molecular functioni

  • protein complex binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Immunity

Names & Taxonomyi

Protein namesi
Recommended name:
Tapasin-related protein
Short name:
TAPASIN-R
Alternative name(s):
TAP-binding protein-like
TAP-binding protein-related protein
Short name:
TAPBP-R
Tapasin-like
Gene namesi
Name:TAPBPL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:30683. TAPBPL.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 405387LumenalSequence AnalysisAdd
BLAST
Transmembranei406 – 42621HelicalSequence AnalysisAdd
BLAST
Topological domaini427 – 46842CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Golgi apparatus, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134955671.

Polymorphism and mutation databases

BioMutaiTAPBPL.
DMDMi296452847.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 18181 PublicationAdd
BLAST
Chaini19 – 468450Tapasin-related proteinPRO_0000014993Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi212 ↔ 283PROSITE-ProRule annotation
Disulfide bondi321 ↔ 382PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

MaxQBiQ9BX59.
PaxDbiQ9BX59.
PRIDEiQ9BX59.

PTM databases

PhosphoSiteiQ9BX59.

Expressioni

Inductioni

By interferon gamma.1 Publication

Gene expression databases

BgeeiQ9BX59.
CleanExiHS_TAPBPL.
ExpressionAtlasiQ9BX59. baseline and differential.
GenevisibleiQ9BX59. HS.

Organism-specific databases

HPAiHPA039545.

Interactioni

Protein-protein interaction databases

BioGridi120395. 6 interactions.
STRINGi9606.ENSP00000266556.

Structurei

3D structure databases

ProteinModelPortaliQ9BX59.
SMRiQ9BX59. Positions 35-399.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini181 – 297117Ig-like V-typeAdd
BLAST
Domaini304 – 39491Ig-like C1-typeAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG45273.
GeneTreeiENSGT00530000063758.
HOGENOMiHOG000168499.
HOVERGENiHBG057669.
InParanoidiQ9BX59.
OMAiHADCSGK.
PhylomeDBiQ9BX59.
TreeFamiTF334274.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003006. Ig/MHC_CS.
IPR003597. Ig_C1-set.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF07654. C1-set. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00407. IGc1. 1 hit.
[Graphical view]
PROSITEiPS50835. IG_LIKE. 2 hits.
PS00290. IG_MHC. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform alpha (identifier: Q9BX59-1) [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
MGTQEGWCLL LCLALSGAAE TKPHPAEGQW RAVDVVLDCF LAKDGAHRGA
60 70 80 90 100
LASSEDRARA SLVLKQVPVL DDGSLEDFTD FQGGTLAQDD PPIIFEASVD
110 120 130 140 150
LVQIPQAEAL LHADCSGKEV TCEISRYFLQ MTETTVKTAA WFMANMQVSG
160 170 180 190 200
GGPSISLVMK TPRVTKNEAL WHPTLNLPLS PQGTVRTAVE FQVMTQTQSL
210 220 230 240 250
SFLLGSSASL DCGFSMAPGL DLISVEWRLQ HKGRGQLVYS WTAGQGQAVR
260 270 280 290 300
KGATLEPAQL GMARDASLTL PGLTIQDEGT YICQITTSLY RAQQIIQLNI
310 320 330 340 350
QASPKVRLSL ANEALLPTLI CDIAGYYPLD VVVTWTREEL GGSPAQVSGA
360 370 380 390 400
SFSSLRQSVA GTYSISSSLT AEPGSAGATY TCQVTHISLE EPLGASTQVV
410 420 430 440 450
PPERRTALGV IFASSLFLLA LMFLGLQRRQ APTGLGLLQA ERWETTSCAD
460
TQSSHLHEDR TARVSQPS
Length:468
Mass (Da):50,183
Last modified:May 18, 2010 - v2
Checksum:iFA39C335FC22960E
GO
Isoform beta (identifier: Q9BX59-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     430-430: Q → QEASAFLHCAPWAHAPRQRTGRSEGTRRRQNVQMEDKTKEP

Note: Has reduced cell surface expression, and does not down-regulate MHC class I surface expression as efficiently as isoform alpha.
Show »
Length:508
Mass (Da):54,799
Checksum:iC01DE24BDEB6A75F
GO
Isoform gamma (identifier: Q9BX59-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     302-402: Missing.

Note: Does not interact with MHC class I.
Show »
Length:367
Mass (Da):39,804
Checksum:i0F349D112FAD78D4
GO
Isoform delta (identifier: Q9BX59-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     236-262: QLVYSWTAGQGQAVRKGATLEPAQLGM → RGDLHLPDHHLSVPSSADHPAQHPSFP
     263-468: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:262
Mass (Da):28,253
Checksum:iC832EBDF4A96CEF4
GO
Isoform epsilon (identifier: Q9BX59-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     189-402: Missing.

Show »
Length:254
Mass (Da):27,517
Checksum:iB2870B9E0F0096F8
GO
Isoform eta (identifier: Q9BX59-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     236-298: QLVYSWTAGQ...LYRAQQIIQL → RGDLHLPDHH...STYRTWAASG
     299-468: Missing.

Show »
Length:297
Mass (Da):31,844
Checksum:i364A0948A7307891
GO
Isoform zeta (identifier: Q9BX59-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     430-468: QAPTGLGLLQ...DRTARVSQPS → QEASAFLHCA...LPLPNSALSK

Show »
Length:509
Mass (Da):55,092
Checksum:i083917CC16401070
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421A → V.2 Publications
Corresponds to variant rs2041385 [ dbSNP | Ensembl ].
VAR_071757
Natural varianti146 – 1461M → V.2 Publications
Corresponds to variant rs2532501 [ dbSNP | Ensembl ].
VAR_071758
Natural varianti151 – 1511G → R.2 Publications
Corresponds to variant rs7295376 [ dbSNP | Ensembl ].
VAR_033627
Natural varianti165 – 1651T → A.2 Publications
Corresponds to variant rs2532500 [ dbSNP | Ensembl ].
VAR_071759
Natural varianti169 – 1691A → V.2 Publications
Corresponds to variant rs2041387 [ dbSNP | Ensembl ].
VAR_071760
Natural varianti334 – 3341T → M.1 Publication
Corresponds to variant rs1045546 [ dbSNP | Ensembl ].
VAR_056090

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei189 – 402214Missing in isoform epsilon. 1 PublicationVSP_057089Add
BLAST
Alternative sequencei236 – 29863QLVYS…QIIQL → RGDLHLPDHHLSVPSSADHP AQHPRAENSLGSHLCQQSLP SCTDVPGASETASTYRTWAA SG in isoform eta. 1 PublicationVSP_057090Add
BLAST
Alternative sequencei236 – 26227QLVYS…AQLGM → RGDLHLPDHHLSVPSSADHP AQHPSFP in isoform delta. 1 PublicationVSP_057091Add
BLAST
Alternative sequencei263 – 468206Missing in isoform delta. 1 PublicationVSP_057092Add
BLAST
Alternative sequencei299 – 468170Missing in isoform eta. 1 PublicationVSP_057093Add
BLAST
Alternative sequencei302 – 402101Missing in isoform gamma. 1 PublicationVSP_057094Add
BLAST
Alternative sequencei430 – 46839QAPTG…VSQPS → QEASAFLHCAPWAHAPRQRT GRSEGTRRRQNVQMEDKTKE PGWWCDGRKTKLEEMEKEQV RDNEAWVGAGLPLPNSALSK in isoform zeta. 1 PublicationVSP_057095Add
BLAST
Alternative sequencei430 – 4301Q → QEASAFLHCAPWAHAPRQRT GRSEGTRRRQNVQMEDKTKE P in isoform beta. 1 PublicationVSP_057096

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001005 mRNA. Translation: BAA91465.1.
AK002056 mRNA. Translation: BAB41077.1.
AC005840 Genomic DNA. No translation available.
BC015017 mRNA. Translation: AAH15017.1.
CCDSiCCDS8546.1. [Q9BX59-1]
RefSeqiNP_060479.3. NM_018009.4. [Q9BX59-1]
XP_005253756.1. XM_005253699.2. [Q9BX59-2]
UniGeneiHs.504597.

Genome annotation databases

EnsembliENST00000266556; ENSP00000266556; ENSG00000139192. [Q9BX59-1]
GeneIDi55080.
KEGGihsa:55080.
UCSCiuc001qog.4. human. [Q9BX59-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001005 mRNA. Translation: BAA91465.1.
AK002056 mRNA. Translation: BAB41077.1.
AC005840 Genomic DNA. No translation available.
BC015017 mRNA. Translation: AAH15017.1.
CCDSiCCDS8546.1. [Q9BX59-1]
RefSeqiNP_060479.3. NM_018009.4. [Q9BX59-1]
XP_005253756.1. XM_005253699.2. [Q9BX59-2]
UniGeneiHs.504597.

3D structure databases

ProteinModelPortaliQ9BX59.
SMRiQ9BX59. Positions 35-399.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120395. 6 interactions.
STRINGi9606.ENSP00000266556.

PTM databases

PhosphoSiteiQ9BX59.

Polymorphism and mutation databases

BioMutaiTAPBPL.
DMDMi296452847.

Proteomic databases

MaxQBiQ9BX59.
PaxDbiQ9BX59.
PRIDEiQ9BX59.

Protocols and materials databases

DNASUi55080.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266556; ENSP00000266556; ENSG00000139192. [Q9BX59-1]
GeneIDi55080.
KEGGihsa:55080.
UCSCiuc001qog.4. human. [Q9BX59-1]

Organism-specific databases

CTDi55080.
GeneCardsiGC12P006561.
HGNCiHGNC:30683. TAPBPL.
HPAiHPA039545.
MIMi607081. gene.
neXtProtiNX_Q9BX59.
PharmGKBiPA134955671.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG45273.
GeneTreeiENSGT00530000063758.
HOGENOMiHOG000168499.
HOVERGENiHBG057669.
InParanoidiQ9BX59.
OMAiHADCSGK.
PhylomeDBiQ9BX59.
TreeFamiTF334274.

Miscellaneous databases

ChiTaRSiTAPBPL. human.
GenomeRNAii55080.
NextBioi58622.
PROiQ9BX59.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BX59.
CleanExiHS_TAPBPL.
ExpressionAtlasiQ9BX59. baseline and differential.
GenevisibleiQ9BX59. HS.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003006. Ig/MHC_CS.
IPR003597. Ig_C1-set.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF07654. C1-set. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00407. IGc1. 1 hit.
[Graphical view]
PROSITEiPS50835. IG_LIKE. 2 hits.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA), SUBCELLULAR LOCATION, VARIANTS ARG-151 AND MET-334.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA), VARIANTS VAL-42; VAL-146; ARG-151; ALA-165 AND VAL-169.
    Tissue: Embryo and Placenta.
  3. "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.
    , 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].
  4. "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 ALPHA), VARIANTS VAL-42; VAL-146; ALA-165 AND VAL-169.
    Tissue: Skin.
  5. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
    Zhang Z., Henzel W.J.
    Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 19-33.
  6. Cited for: FUNCTION, INDUCTION, SUBCELLULAR LOCATION.
  7. "TAPBPR isoforms exhibit altered association with MHC class I."
    Porter K.M., Hermann C., Traherne J.A., Boyle L.H.
    Immunology 142:289-299(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORMS ALPHA; BETA; GAMMA; DELTA; EPSILON; ETA AND ZETA).

Entry informationi

Entry nameiTPSNR_HUMAN
AccessioniPrimary (citable) accession number: Q9BX59
Secondary accession number(s): Q9NWB8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: May 18, 2010
Last modified: June 24, 2015
This is version 116 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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.