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Protein

Retinitis pigmentosa 1-like 1 protein

Gene

RP1L1

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

Functioni

Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Sensory transduction, Vision

Enzyme and pathway databases

BioCyciZFISH:G66-31703-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Retinitis pigmentosa 1-like 1 protein
Gene namesi
Name:RP1L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:15946. RP1L1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Occult macular dystrophy (OCMD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina.
See also OMIM:613587
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06512645R → W in OCMD. 1 Publication1
Natural variantiVAR_065127960W → R in OCMD. 1 Publication1
Natural variantiVAR_0683501199S → C in OCMD. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi94137.
MalaCardsiRP1L1.
MIMi613587. phenotype.
Orphaneti247834. Occult macular dystrophy.

Polymorphism and mutation databases

DMDMi317373543.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000974061 – 2480Retinitis pigmentosa 1-like 1 proteinAdd BLAST2480

Proteomic databases

EPDiQ8IWN7.
PaxDbiQ8IWN7.
PeptideAtlasiQ8IWN7.
PRIDEiQ8IWN7.

PTM databases

iPTMnetiQ8IWN7.
PhosphoSitePlusiQ8IWN7.

Expressioni

Tissue specificityi

Retinal-specific; expressed in photoreceptor.

Gene expression databases

CleanExiHS_RP1L1.

Interactioni

Subunit structurei

Interacts with RP1; has a synergistic effect with RP1 in photoreceptor differentiation.By similarity

Protein-protein interaction databases

IntActiQ8IWN7. 4 interactors.
MINTiMINT-6602266.
STRINGi9606.ENSP00000371923.

Structurei

3D structure databases

ProteinModelPortaliQ8IWN7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 118Doublecortin 1PROSITE-ProRule annotationAdd BLAST85
Domaini152 – 231Doublecortin 2PROSITE-ProRule annotationAdd BLAST80
Repeati1292 – 13071-1; approximateAdd BLAST16
Repeati1310 – 13261-2; approximateAdd BLAST17
Repeati1327 – 13421-3Add BLAST16
Repeati1343 – 13581-4Add BLAST16
Repeati1359 – 13741-5Add BLAST16
Repeati1375 – 13901-6Add BLAST16
Repeati1391 – 14061-7Add BLAST16
Repeati1407 – 14221-8Add BLAST16
Repeati1916 – 19312-1Add BLAST16
Repeati1932 – 19472-2Add BLAST16
Repeati1955 – 19702-3Add BLAST16
Repeati1971 – 19862-4; approximateAdd BLAST16
Repeati1987 – 20012-5Add BLAST15
Repeati2003 – 20182-6; approximateAdd BLAST16
Repeati2019 – 20342-7Add BLAST16
Repeati2035 – 20502-8; approximateAdd BLAST16
Repeati2051 – 20642-9; approximateAdd BLAST14
Repeati2065 – 20802-10Add BLAST16
Repeati2081 – 20962-11Add BLAST16
Repeati2097 – 21112-12; approximateAdd BLAST15
Repeati2113 – 21282-13Add BLAST16
Repeati2136 – 21512-14Add BLAST16
Repeati2152 – 21652-15; approximateAdd BLAST14
Repeati2166 – 21812-16Add BLAST16
Repeati2182 – 21962-17Add BLAST15
Repeati2197 – 22122-18Add BLAST16
Repeati2213 – 22282-19Add BLAST16
Repeati2229 – 22442-20Add BLAST16
Repeati2245 – 22602-21Add BLAST16
Repeati2261 – 22762-22Add BLAST16
Repeati2277 – 22922-23Add BLAST16
Repeati2293 – 23082-24Add BLAST16
Repeati2309 – 23242-25Add BLAST16

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1292 – 14228 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-KAdd BLAST131
Regioni1916 – 232425 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]-[AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]-[EGSQDI]-[AVIE]Add BLAST409

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1279 – 1313Sequence analysisAdd BLAST35
Coiled coili1633 – 1663Sequence analysisAdd BLAST31
Coiled coili2008 – 2097Sequence analysisAdd BLAST90
Coiled coili2131 – 2171Sequence analysisAdd BLAST41

Domaini

The C-terminal part contains a large repetitive region which contains an unusually high percentage of glutamine, glycine and above all glutamic acid residues.

Sequence similaritiesi

Contains 2 doublecortin domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG3757. Eukaryota.
ENOG410ZE6Q. LUCA.
HOVERGENiHBG079142.
InParanoidiQ8IWN7.
PhylomeDBiQ8IWN7.

Family and domain databases

CDDicd01617. DCX. 1 hit.
Gene3Di3.10.20.230. 2 hits.
InterProiIPR003533. Doublecortin_dom.
[Graphical view]
PfamiPF03607. DCX. 2 hits.
[Graphical view]
SMARTiSM00537. DCX. 2 hits.
[Graphical view]
PROSITEiPS50309. DC. 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: Q8IWN7-1) [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
MNSTPRNAQA PSHRECFLPS VARTPSVTKV TPAKKITFLK RGDPRFAGVR
60 70 80 90 100
LAVHQRAFKT FSALMDELSQ RVPLSFGVRS VTTPRGLHSL SALEQLEDGG
110 120 130 140 150
CYLCSDKKPP KTPSGPGRPQ ERNPTAQQLR DVEGQREAPG TSSSRKSLKT
160 170 180 190 200
PRRILLIKNM DPRLQQTVVL SHRNTRNLAA FLGKASDLLR FPVKQLYTTS
210 220 230 240 250
GKKVDSLQAL LHSPSVLVCA GHEAFRTPAM KNARRSEAET LSGLTSRNKN
260 270 280 290 300
GSWGPKTKPS VIHSRSPPGS TPRLPERPGP SNPPVGPAPG RHPQDTPAQS
310 320 330 340 350
GPLVAGDDMK KKVRMNEDGS LSVEMKVRFH LVGEDTLLWS RRMGRASALT
360 370 380 390 400
AASGEDPVLG EVDPLCCVWE GYPWGFSEPG VWGPRPCRVG CREVFGRGGQ
410 420 430 440 450
PGPKYEIWTN PLHASQGERV AARKRWGLAQ HVRCSGLWGH GTAGRERCSQ
460 470 480 490 500
DSASPASSTG LPEGSEPESS CCPRTPEDGV DSASPSAQIG AERKAGGSLG
510 520 530 540 550
EDPGLCIDGA GLGGPEQGGR LTPRARSEEG ASSDSSASTG SHEGSSEWGG
560 570 580 590 600
RPQGCPGKAR AETSQQEASE GGDPASPALS LSSLRSDDLQ AETQGQGTEQ
610 620 630 640 650
ATGAAVTREP LVLGLSCSWD SEGASSTPST CTSSQQGQRR HRSRASAMSS
660 670 680 690 700
PSSPGLGRVA PRGHPRHSHY RKDTHSPLDS SVTKQVPRPP ERRRACQDGS
710 720 730 740 750
VPRYSGSSSS TRTQASGNLR PPSSGSLPSQ DLLGTSSATV TPAVHSDFVS
760 770 780 790 800
GVSPHNAPSA GWAGDAGSRT CSPAPIPPHT SDSCSKSGAA SLGEEARDTP
810 820 830 840 850
QPSSPLVLQV GRPEQGAVGP HRSHCCSQPG TQPAQEAQRG PSPEASWLCG
860 870 880 890 900
RYCPTPPRGR PCPQRRSSSC GSTGSSHQST ARGPGGSPQE GTRQPGPTPS
910 920 930 940 950
PGPNSGASRR SSASQGAGSR GLSEEKTLRS GGGPQGQEEA SGVSPSSLPR
960 970 980 990 1000
SSPEAVVREW LDNIPEEPIL MTYELADETT GAAGGGLRGP EVDPGDDHSL
1010 1020 1030 1040 1050
EGLGEPAQAG QQSLEGDPGQ DPEPEGALLG SSDTGPQSGE GVPQGAAPEG
1060 1070 1080 1090 1100
VSEAPAEAGA DREAPAGCRV SLRALPGRVS ASTQIMRALM GSKQGRPSSV
1110 1120 1130 1140 1150
PEVSRPMARR LSCSAGALIT CLASLQLFEE DLGSPASKVR FKDSPRYQEL
1160 1170 1180 1190 1200
LSISKDLWPG CDVGEDQLDS GLWELTWSQA LPDLGSHAMT ENFTPTSSSG
1210 1220 1230 1240 1250
VDISSGSGGS GESSVPCAMD GTLVTQGTEL PLKTSNQRPD SRTYESPGDL
1260 1270 1280 1290 1300
ENQQQCCFPT FLNARACACA TNEDEAERDS EEQRASSNLE QLAENTVQEE
1310 1320 1330 1340 1350
VQLEETKEGT EGEGLQEEGV QLEETKTEEG LQEEGVQLEE TKTEEGLQEE
1360 1370 1380 1390 1400
GVQLEETKTE EGLQEEGVQL EETKTEEGLQ EEGVQLEETK TEEGLQEEGV
1410 1420 1430 1440 1450
QLEETKTEEG LQEEGVQLEG TKETEGEGQQ EEEAQLEEIE ETGGEGLQEE
1460 1470 1480 1490 1500
GVQLEEVKEG PEGGLQGEAL EEGLKEEGLP EEGSVHGQEL SEASSPDGKG
1510 1520 1530 1540 1550
SQEDDPVQEE EAGRASASAE PCPAEGTEEP TEPPSHLSET DPSASERQSG
1560 1570 1580 1590 1600
SQLEPGLEKP PGATMMGQEH TQAQPTQGAA ERSSSVACSA ALDCDPIWVS
1610 1620 1630 1640 1650
VLLKKTEKAF LAHLASAVAE LRARWGLQDN DLLDQMAAEL QQDVAQRLQD
1660 1670 1680 1690 1700
STKRELQKLQ GRAGRMVLEP PREALTGELL LQTQQRRHRL RGLRNLSAFS
1710 1720 1730 1740 1750
ERTLGLGPLS FTLEDEPALS TALGSQLGEE AEGEEFCPCE ACVRKKVSPM
1760 1770 1780 1790 1800
SPKATMGATR GPIKEAFDLQ QILQRKRGEH TDGEAAEVAP GKTHTDPTST
1810 1820 1830 1840 1850
RTVQGAEGGL GPGLSQGPGV DEGEDGEGSQ RLNRDKDPKL GEAEGDAMAQ
1860 1870 1880 1890 1900
EREGKTHNSE TSAGSELGEA EQEGEGISER GETGGQGSGH EDNLQGEAAA
1910 1920 1930 1940 1950
GGDQDPGQSD GAEGIEAPEA EGEAQPESEG VEAPEAEGDA QEAEGEAQPE
1960 1970 1980 1990 2000
SEDVEAPEAE GEAQPESEDV ETPEAEWEVQ PESEGAEAPE AEKEAQPETE
2010 2020 2030 2040 2050
SVEALETEGE DEPESEGAEA QEAEEAAQEA EGQTQPESEV IESQEAEEEA
2060 2070 2080 2090 2100
QPESEDVEAL EVEVETQEAE GEAQPESEDV EAPEAEGEMQ EAEEEAQPES
2110 2120 2130 2140 2150
DGVEAQPKSE GEEAQEVEGE TQKTEGDAQP ESDGVEAPEA EEEAQEAEGE
2160 2170 2180 2190 2200
VQEAEGEAHP ESEDVDAQEA EGEAQPESEG VEAPEAEGEA QKAEGIEAPE
2210 2220 2230 2240 2250
TEGEAQPESE GIEAPEAEGE AQPESEGVEA QDAEGEAQPE SEGIEAQEAE
2260 2270 2280 2290 2300
EEAQPELEGV EAPEAEGEAQ PESEGIEAPE AEGEAQPELE GVEAPEAEEE
2310 2320 2330 2340 2350
AQPEPEGVET PEAEGEAQPE SEGETQGEKK GSPQVSLGDG QSEEASESSS
2360 2370 2380 2390 2400
PVPEDRPTPP PSPGGDTPHQ RPGSQTGPSS SRASSWGNCW QKDSENDHVL
2410 2420 2430 2440 2450
GDTRSPDAKS TGTPHAERKA TRMYPESSTS EQEEAPLGSR TPEQGASEGY
2460 2470 2480
DLQEDQALGS LAPTEAVGRA DGFGQDDLDF
Length:2,480
Mass (Da):261,207
Last modified:January 11, 2011 - v4
Checksum:iDA8DB5A2EB3F92A2
GO
Isoform 2 (identifier: Q8IWN7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-222: DSLQALLHSPSVLVCAGH → LPDMKFHQRSAEWRMEVD
     223-2480: Missing.

Note: No experimental confirmation available.
Show »
Length:222
Mass (Da):24,855
Checksum:iC648892D390E792C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti514G → S in CAD36957 (PubMed:12634863).Curated1
Sequence conflicti1367G → A in AAN86961 (PubMed:12724644).Curated1
Sequence conflicti1372E → G in AAN86961 (PubMed:12724644).Curated1
Sequence conflicti1383G → R in AAN86961 (PubMed:12724644).Curated1
Sequence conflicti1399G → R in AAN86960 (PubMed:12724644).Curated1

Polymorphismi

The exact length of RP1L1 is variable between individuals due to the presence of several length polymorphisms. The sequence shown here is that of allele RP1L1-6 and includes 8 repeats (from aa 1292-1422) with a length of 16 amino acids. The number of repeats is highly polymorphic and varies among different alleles, ranging from 3 to 8.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01770044P → A.1
Natural variantiVAR_06512645R → W in OCMD. 1 Publication1
Natural variantiVAR_01770156R → C.1
Natural variantiVAR_017702112T → S.Corresponds to variant rs6601495dbSNPEnsembl.1
Natural variantiVAR_017703136R → H.1
Natural variantiVAR_056979222H → P.Corresponds to variant rs4388421dbSNPEnsembl.1
Natural variantiVAR_017704487A → V.1
Natural variantiVAR_017705624A → T.1
Natural variantiVAR_017706792L → P.1 PublicationCorresponds to variant rs35602868dbSNPEnsembl.1
Natural variantiVAR_017707795E → K.1
Natural variantiVAR_017708860R → W.1
Natural variantiVAR_065127960W → R in OCMD. 1 Publication1
Natural variantiVAR_0177091146R → W.1 PublicationCorresponds to variant rs4840502dbSNPEnsembl.1
Natural variantiVAR_0683501199S → C in OCMD. 1 Publication1
Natural variantiVAR_0177101285A → S in allele RP1L1-3. 1 Publication1
Natural variantiVAR_0177111319G → A in allele RP1L1-3. 1 PublicationCorresponds to variant rs4840501dbSNPEnsembl.1
Natural variantiVAR_0177121324E → G in allele RP1L1-3. Corresponds to variant rs4240659dbSNPEnsembl.1
Natural variantiVAR_0177141327 – 1406Missing in allele RP1L1-1. Add BLAST80
Natural variantiVAR_0177131327 – 1328TE → VI in allele RP1L1-3. 2
Natural variantiVAR_0177151335G → R in allele RP1L1-2 and allele RP1L1-3. Corresponds to variant rs61503212dbSNPEnsembl.1
Natural variantiVAR_0569801340E → G.Corresponds to variant rs9657518dbSNPEnsembl.1
Natural variantiVAR_0177161343 – 1406Missing in allele RP1L1-2. Add BLAST64
Natural variantiVAR_0177171359 – 1406Missing in allele RP1L1-3. Add BLAST48
Natural variantiVAR_0177181375 – 1406Missing in allele RP1L1-4. Add BLAST32
Natural variantiVAR_0177191391 – 1406Missing in allele RP1L1-5. Add BLAST16
Natural variantiVAR_0177201420G → E in allele RP1L1-1 and allele RP1L1-2. 2 Publications1
Natural variantiVAR_0473881547R → S.1 PublicationCorresponds to variant rs4840498dbSNPEnsembl.1
Natural variantiVAR_0177211563A → V.1
Natural variantiVAR_0177221575P → R.1
Natural variantiVAR_0177231585S → L.1
Natural variantiVAR_0177241658K → KK.1
Natural variantiVAR_0177251789A → V.1
Natural variantiVAR_0177261896G → D.1
Natural variantiVAR_0177271942 – 1948Missing .7
Natural variantiVAR_0177281969D → V.1
Natural variantiVAR_0177292026A → E.1 PublicationCorresponds to variant rs11785822dbSNPEnsembl.1
Natural variantiVAR_0177302034T → A.1 Publication1
Natural variantiVAR_0177312149G → V.1
Natural variantiVAR_0177322168Q → H.1
Natural variantiVAR_0569812171E → K.Corresponds to variant rs4354268dbSNPEnsembl.1
Natural variantiVAR_0177332220E → K.1
Natural variantiVAR_0177342251E → K.1 PublicationCorresponds to variant rs4354268dbSNPEnsembl.1
Natural variantiVAR_0177352279P → L.1
Natural variantiVAR_0177362322E → G.1 Publication1
Natural variantiVAR_0177372365G → R.1
Natural variantiVAR_0177382415H → R.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009382205 – 222DSLQA…VCAGH → LPDMKFHQRSAEWRMEVD in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_009383223 – 2480Missing in isoform 2. 1 PublicationAdd BLAST2258

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY168341 mRNA. Translation: AAN86959.1.
AY168342 mRNA. Translation: AAN86960.1.
AY168343 mRNA. Translation: AAN86961.1.
AY168344 mRNA. Translation: AAN86962.1.
AY168345 mRNA. Translation: AAN86963.1.
AY168346 mRNA. Translation: AAN86964.1.
AJ491324 mRNA. Translation: CAD36957.1.
AK127545 mRNA. No translation available.
AC104964 Genomic DNA. No translation available.
AC105001 Genomic DNA. No translation available.
UniGeneiHs.33538.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY168341 mRNA. Translation: AAN86959.1.
AY168342 mRNA. Translation: AAN86960.1.
AY168343 mRNA. Translation: AAN86961.1.
AY168344 mRNA. Translation: AAN86962.1.
AY168345 mRNA. Translation: AAN86963.1.
AY168346 mRNA. Translation: AAN86964.1.
AJ491324 mRNA. Translation: CAD36957.1.
AK127545 mRNA. No translation available.
AC104964 Genomic DNA. No translation available.
AC105001 Genomic DNA. No translation available.
UniGeneiHs.33538.

3D structure databases

ProteinModelPortaliQ8IWN7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8IWN7. 4 interactors.
MINTiMINT-6602266.
STRINGi9606.ENSP00000371923.

PTM databases

iPTMnetiQ8IWN7.
PhosphoSitePlusiQ8IWN7.

Polymorphism and mutation databases

DMDMi317373543.

Proteomic databases

EPDiQ8IWN7.
PaxDbiQ8IWN7.
PeptideAtlasiQ8IWN7.
PRIDEiQ8IWN7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

DisGeNETi94137.
GeneCardsiRP1L1.
H-InvDBHIX0028078.
HGNCiHGNC:15946. RP1L1.
MalaCardsiRP1L1.
MIMi608581. gene.
613587. phenotype.
neXtProtiNX_Q8IWN7.
Orphaneti247834. Occult macular dystrophy.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3757. Eukaryota.
ENOG410ZE6Q. LUCA.
HOVERGENiHBG079142.
InParanoidiQ8IWN7.
PhylomeDBiQ8IWN7.

Enzyme and pathway databases

BioCyciZFISH:G66-31703-MONOMER.

Miscellaneous databases

PROiQ8IWN7.
SOURCEiSearch...

Gene expression databases

CleanExiHS_RP1L1.

Family and domain databases

CDDicd01617. DCX. 1 hit.
Gene3Di3.10.20.230. 2 hits.
InterProiIPR003533. Doublecortin_dom.
[Graphical view]
PfamiPF03607. DCX. 2 hits.
[Graphical view]
SMARTiSM00537. DCX. 2 hits.
[Graphical view]
PROSITEiPS50309. DC. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRP1L1_HUMAN
AccessioniPrimary (citable) accession number: Q8IWN7
Secondary accession number(s): Q86SQ1
, Q8IWN8, Q8IWN9, Q8IWP0, Q8IWP1, Q8IWP2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: January 11, 2011
Last modified: November 2, 2016
This is version 107 of the entry and version 4 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 8
    Human chromosome 8: 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.