Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Centrosomal protein of 85 kDa-like

Gene

CEP85L

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

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 85 kDa-like
Alternative name(s):
Serologically defined breast cancer antigen NY-BR-15
Gene namesi
Name:CEP85L
Synonyms:C6orf204
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21638. CEP85L.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving CEP85L is found in a patient with T-lymphoblastic lymphoma (T-ALL) and an associated myeloproliferative neoplasm (MPN) with eosinophilia. Translocation t(5;6)(q33-34;q23) with PDGFRB. The translocation fuses the 5'-end of CEP85L (isoform 4) to the 3'-end of PDGFRB.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei674 – 6752Breakpoint for translocation to form the CEP85L-PDGFRB fusion protein

Organism-specific databases

PharmGKBiPA134984681.

Polymorphism and mutation databases

BioMutaiCEP85L.
DMDMi74762226.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 805805Centrosomal protein of 85 kDa-likePRO_0000297676Add
BLAST

Proteomic databases

EPDiQ5SZL2.
MaxQBiQ5SZL2.
PaxDbiQ5SZL2.
PRIDEiQ5SZL2.

PTM databases

iPTMnetiQ5SZL2.
PhosphoSiteiQ5SZL2.

Expressioni

Tissue specificityi

Isoform 1 and isoform 4 are expressed in spleen, lymph, thymus, tonsil and peripheral blood leukocytes, with isoform 1 expressed at higher levels. Isoform 4 is detected in K-562 leukemia cells and in the blood of precursor T lymphoblastic lymphoma (T-ALL) patients.1 Publication

Gene expression databases

BgeeiQ5SZL2.
CleanExiHS_C6orf204.
ExpressionAtlasiQ5SZL2. baseline and differential.
GenevisibleiQ5SZL2. HS.

Organism-specific databases

HPAiHPA029137.
HPA029138.
HPA029139.

Interactioni

Protein-protein interaction databases

BioGridi132255. 7 interactions.
IntActiQ5SZL2. 4 interactions.
STRINGi9606.ENSP00000357474.

Structurei

3D structure databases

ProteinModelPortaliQ5SZL2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili439 – 682244Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the CEP85 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGFN. Eukaryota.
ENOG410ZR9W. LUCA.
GeneTreeiENSGT00620000087993.
HOGENOMiHOG000220824.
HOVERGENiHBG100856.
InParanoidiQ5SZL2.
KOiK16766.
OMAiSDVCQLR.
OrthoDBiEOG75TMBD.
PhylomeDBiQ5SZL2.
TreeFamiTF331041.

Family and domain databases

InterProiIPR029778. CEP85L.
[Graphical view]
PANTHERiPTHR31075:SF2. PTHR31075:SF2. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5SZL2-1) [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
MWGRFLAPEA SGRDSPGGAR SFPAGPDYSS AWLPANESLW QATTVPSNHR
60 70 80 90 100
NNHIRRHSIA SDSGDTGIGT SCSDSVEDHS TSSGTLSFKP SQSLITLPTA
110 120 130 140 150
HVMPSNSSAS ISKLRESLTP DGSKWSTSLM QTLGNHSRGE QDSSLDMKDF
160 170 180 190 200
RPLRKWSSLS KLTAPDNCGQ GGTVCREESR NGLEKIGKAK ALTSQLRTIG
210 220 230 240 250
PSCLHDSMEM LRLEDKEINK KRSSTLDCKY KFESCSKEDF RASSSTLRRQ
260 270 280 290 300
PVDMTYSALP ESKPIMTSSE AFEPPKYLML GQQAVGGVPI QPSVRTQMWL
310 320 330 340 350
TEQLRTNPLE GRNTEDSYSL APWQQQQIED FRQGSETPMQ VLTGSSRQSY
360 370 380 390 400
SPGYQDFSKW ESMLKIKEGL LRQKEIVIDR QKQQITHLHE RIRDNELRAQ
410 420 430 440 450
HAMLGHYVNC EDSYVASLQP QYENTSLQTP FSEESVSHSQ QGEFEQKLAS
460 470 480 490 500
TEKEVLQLNE FLKQRLSLFS EEKKKLEEKL KTRDRYISSL KKKCQKESEQ
510 520 530 540 550
NKEKQRRIET LEKYLADLPT LDDVQSQSLQ LQILEEKNKN LQEALIDTEK
560 570 580 590 600
KLEEIKKQCQ DKETQLICQK KKEKELVTTV QSLQQKVERC LEDGIRLPML
610 620 630 640 650
DAKQLQNEND NLRQQNETAS KIIDSQQDEI DRMILEIQSM QGKLSKEKLT
660 670 680 690 700
TQKMMEELEK KERNVQRLTK ALLENQRQTD ETCSLLDQGQ EPDQSRQQTV
710 720 730 740 750
LSKRPLFDLT VIDQLFKEMS CCLFDLKALC SILNQRAQGK EPNLSLLLGI
760 770 780 790 800
RSMNCSAEET ENDHSTETLT KKLSDVCQLR RDIDELRTTI SDRYAQDMGD

NCITQ
Length:805
Mass (Da):91,808
Last modified:December 21, 2004 - v1
Checksum:i9BFC71F0DD13A9CF
GO
Isoform 2 (identifier: Q5SZL2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MWGRFLAPEASGRDSPGGARSFPA → MIWRNNWKSTTGRLNVKLQSDKLQHGC
     480-496: LKTRDRYISSLKKKCQK → VGFSNKVELGQQHFLSI
     497-805: Missing.

Note: No experimental confirmation available.
Show »
Length:499
Mass (Da):56,376
Checksum:i02D81EC72A723DE0
GO
Isoform 3 (identifier: Q5SZL2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: Missing.
     480-496: LKTRDRYISSLKKKCQK → VGFSNKVELGQQHFLSI
     497-805: Missing.

Show »
Length:394
Mass (Da):44,920
Checksum:iC2BFD719A632B2CF
GO
Isoform 4 (identifier: Q5SZL2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MWGRFLAPEASGRDSPGGARSFPA → MIWRNNWKSTTGRLNVKLQSDKLQHGC

Show »
Length:808
Mass (Da):92,502
Checksum:i9B09B8764A533509
GO
Isoform 5 (identifier: Q5SZL2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     480-496: LKTRDRYISSLKKKCQK → VGFSNKVELGQQHFLSI
     497-805: Missing.

Note: No experimental confirmation available.
Show »
Length:496
Mass (Da):55,682
Checksum:i7B58E506649A7A05
GO

Sequence cautioni

The sequence AAI10836.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAM19611.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAM28257.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371S → G.1 Publication
Corresponds to variant rs3734381 [ dbSNP | Ensembl ].
VAR_034670
Natural varianti166 – 1661D → V.
Corresponds to variant rs9489444 [ dbSNP | Ensembl ].
VAR_034671
Natural varianti251 – 2511P → T.2 Publications
Corresponds to variant rs3734382 [ dbSNP | Ensembl ].
VAR_034672
Natural varianti345 – 3451S → F in a breast cancer sample; somatic mutation. 1 Publication
VAR_036247
Natural varianti532 – 5321Q → H.
Corresponds to variant rs9489410 [ dbSNP | Ensembl ].
VAR_053941
Natural varianti640 – 6401M → V.
Corresponds to variant rs7743702 [ dbSNP | Ensembl ].
VAR_053942

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 102102Missing in isoform 3. 1 PublicationVSP_027337Add
BLAST
Alternative sequencei1 – 2424MWGRF…RSFPA → MIWRNNWKSTTGRLNVKLQS DKLQHGC in isoform 2 and isoform 4. 2 PublicationsVSP_027338Add
BLAST
Alternative sequencei480 – 49617LKTRD…KKCQK → VGFSNKVELGQQHFLSI in isoform 2, isoform 3 and isoform 5. 2 PublicationsVSP_027339Add
BLAST
Alternative sequencei497 – 805309Missing in isoform 2, isoform 3 and isoform 5. 2 PublicationsVSP_027340Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY313778 mRNA. Translation: AAP81009.1.
AL359634 Genomic DNA. No translation available.
AL390069, AL589993, Z99496 Genomic DNA. Translation: CAI14134.1.
AL390069, Z99496 Genomic DNA. Translation: CAI14135.2.
AL390069, Z99496 Genomic DNA. Translation: CAM19611.1. Sequence problems.
AL589993, AL390069, Z99496 Genomic DNA. Translation: CAI16048.1.
Z99496, AL390069, AL589993 Genomic DNA. Translation: CAI21605.1.
Z99496, AL390069 Genomic DNA. Translation: CAI21606.2.
Z99496, AL390069 Genomic DNA. Translation: CAM28257.1. Sequence problems.
Z99496 Genomic DNA. Translation: CAM28259.1.
CH471051 Genomic DNA. Translation: EAW48196.1.
CH471051 Genomic DNA. Translation: EAW48197.1.
BC110835 mRNA. Translation: AAI10836.1. Different initiation.
BC126140 mRNA. Translation: AAI26141.1.
BC126142 mRNA. Translation: AAI26143.1.
AF308284 mRNA. Translation: AAG48252.1.
CCDSiCCDS43498.1. [Q5SZL2-1]
CCDS5119.2. [Q5SZL2-5]
CCDS55052.1. [Q5SZL2-4]
RefSeqiNP_001035940.1. NM_001042475.2. [Q5SZL2-1]
NP_001171506.1. NM_001178035.1. [Q5SZL2-4]
NP_996804.2. NM_206921.2. [Q5SZL2-5]
XP_011534110.1. XM_011535808.1. [Q5SZL2-4]
XP_011534111.1. XM_011535809.1. [Q5SZL2-1]
UniGeneiHs.656959.

Genome annotation databases

EnsembliENST00000360290; ENSP00000353434; ENSG00000111860. [Q5SZL2-3]
ENST00000368488; ENSP00000357474; ENSG00000111860. [Q5SZL2-4]
ENST00000368491; ENSP00000357477; ENSG00000111860. [Q5SZL2-1]
ENST00000392500; ENSP00000376288; ENSG00000111860. [Q5SZL2-2]
ENST00000419517; ENSP00000393317; ENSG00000111860. [Q5SZL2-5]
GeneIDi387119.
KEGGihsa:387119.
UCSCiuc003pxz.3. human. [Q5SZL2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY313778 mRNA. Translation: AAP81009.1.
AL359634 Genomic DNA. No translation available.
AL390069, AL589993, Z99496 Genomic DNA. Translation: CAI14134.1.
AL390069, Z99496 Genomic DNA. Translation: CAI14135.2.
AL390069, Z99496 Genomic DNA. Translation: CAM19611.1. Sequence problems.
AL589993, AL390069, Z99496 Genomic DNA. Translation: CAI16048.1.
Z99496, AL390069, AL589993 Genomic DNA. Translation: CAI21605.1.
Z99496, AL390069 Genomic DNA. Translation: CAI21606.2.
Z99496, AL390069 Genomic DNA. Translation: CAM28257.1. Sequence problems.
Z99496 Genomic DNA. Translation: CAM28259.1.
CH471051 Genomic DNA. Translation: EAW48196.1.
CH471051 Genomic DNA. Translation: EAW48197.1.
BC110835 mRNA. Translation: AAI10836.1. Different initiation.
BC126140 mRNA. Translation: AAI26141.1.
BC126142 mRNA. Translation: AAI26143.1.
AF308284 mRNA. Translation: AAG48252.1.
CCDSiCCDS43498.1. [Q5SZL2-1]
CCDS5119.2. [Q5SZL2-5]
CCDS55052.1. [Q5SZL2-4]
RefSeqiNP_001035940.1. NM_001042475.2. [Q5SZL2-1]
NP_001171506.1. NM_001178035.1. [Q5SZL2-4]
NP_996804.2. NM_206921.2. [Q5SZL2-5]
XP_011534110.1. XM_011535808.1. [Q5SZL2-4]
XP_011534111.1. XM_011535809.1. [Q5SZL2-1]
UniGeneiHs.656959.

3D structure databases

ProteinModelPortaliQ5SZL2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi132255. 7 interactions.
IntActiQ5SZL2. 4 interactions.
STRINGi9606.ENSP00000357474.

PTM databases

iPTMnetiQ5SZL2.
PhosphoSiteiQ5SZL2.

Polymorphism and mutation databases

BioMutaiCEP85L.
DMDMi74762226.

Proteomic databases

EPDiQ5SZL2.
MaxQBiQ5SZL2.
PaxDbiQ5SZL2.
PRIDEiQ5SZL2.

Protocols and materials databases

DNASUi387119.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360290; ENSP00000353434; ENSG00000111860. [Q5SZL2-3]
ENST00000368488; ENSP00000357474; ENSG00000111860. [Q5SZL2-4]
ENST00000368491; ENSP00000357477; ENSG00000111860. [Q5SZL2-1]
ENST00000392500; ENSP00000376288; ENSG00000111860. [Q5SZL2-2]
ENST00000419517; ENSP00000393317; ENSG00000111860. [Q5SZL2-5]
GeneIDi387119.
KEGGihsa:387119.
UCSCiuc003pxz.3. human. [Q5SZL2-1]

Organism-specific databases

CTDi387119.
GeneCardsiCEP85L.
H-InvDBHIX0006176.
HGNCiHGNC:21638. CEP85L.
HPAiHPA029137.
HPA029138.
HPA029139.
neXtProtiNX_Q5SZL2.
PharmGKBiPA134984681.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGFN. Eukaryota.
ENOG410ZR9W. LUCA.
GeneTreeiENSGT00620000087993.
HOGENOMiHOG000220824.
HOVERGENiHBG100856.
InParanoidiQ5SZL2.
KOiK16766.
OMAiSDVCQLR.
OrthoDBiEOG75TMBD.
PhylomeDBiQ5SZL2.
TreeFamiTF331041.

Miscellaneous databases

ChiTaRSiCEP85L. human.
GenomeRNAii387119.
PROiQ5SZL2.

Gene expression databases

BgeeiQ5SZL2.
CleanExiHS_C6orf204.
ExpressionAtlasiQ5SZL2. baseline and differential.
GenevisibleiQ5SZL2. HS.

Family and domain databases

InterProiIPR029778. CEP85L.
[Graphical view]
PANTHERiPTHR31075:SF2. PTHR31075:SF2. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Sha J.H., Zhou Z.M., Li J.M.
    Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), VARIANT THR-251.
    Tissue: Testis.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. 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 2), VARIANTS GLY-137 AND THR-251.
    Tissue: Lung.
  5. "Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm."
    Chmielecki J., Peifer M., Viale A., Hutchinson K., Giltnane J., Socci N.D., Hollis C.J., Dean R.S., Yenamandra A., Jagasia M., Kim A.S., Dave U.P., Thomas R.K., Pao W.
    Genes Chromosomes Cancer 51:54-65(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-674 (ISOFORM 4), TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH PDGFRB, POSSIBLE INVOLVEMENT IN T-LYMPHOBLASTIC LYMPHOMA.
    Tissue: Peripheral blood.
  6. "Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression."
    Scanlan M.J., Gout I., Gordon C.M., Williamson B., Stockert E., Gure A.O., Jaeger D., Chen Y.-T., Mackay A., O'Hare M.J., Old L.J.
    Cancer Immun. 1:4-4(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 260-805 (ISOFORM 1).
    Tissue: Mammary tumor.
  7. "Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods."
    Jakobsen L., Vanselow K., Skogs M., Toyoda Y., Lundberg E., Poser I., Falkenby L.G., Bennetzen M., Westendorf J., Nigg E.A., Uhlen M., Hyman A.A., Andersen J.S.
    EMBO J. 30:1520-1535(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION.
  8. Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-345.

Entry informationi

Entry nameiCE85L_HUMAN
AccessioniPrimary (citable) accession number: Q5SZL2
Secondary accession number(s): A1A4E1
, A2A3P2, A2IDE5, F8W6J2, G3V0H3, Q2TAM2, Q5T323, Q7Z5K7, Q9H289
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: December 21, 2004
Last modified: June 8, 2016
This is version 89 of the entry and version 1 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 6
    Human chromosome 6: 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. 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.