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Protein

WD repeat-containing protein 62

Gene

WDR62

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

Functioni

Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20890278, PubMed:20729831). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806).3 Publications

GO - Biological processi

  • centriole replication Source: UniProtKB
  • cerebral cortex development Source: UniProtKB
  • mitotic spindle organization Source: MGI
  • neurogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Neurogenesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000075702-MONOMER.
SignaLinkiO43379.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 62
Gene namesi
Name:WDR62
Synonyms:C19orf14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:24502. WDR62.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: UniProtKB-SubCell
  • centrosome Source: UniProtKB
  • nucleus Source: UniProtKB
  • spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.
See also OMIM:604317
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06584365V → M in MCPH2. 2 PublicationsCorresponds to variant rs387907084dbSNPEnsembl.1
Natural variantiVAR_063702224W → S in MCPH2. 1 PublicationCorresponds to variant rs267607176dbSNPEnsembl.1
Natural variantiVAR_065844438R → H in MCPH2; the mutant protein does not localize to the spindle pole during mitosis. 1 PublicationCorresponds to variant rs387907082dbSNPEnsembl.1
Natural variantiVAR_065845511D → N in MCPH2. 1 PublicationCorresponds to variant rs387907083dbSNPEnsembl.1
Natural variantiVAR_063703526E → K in MCPH2. 1 PublicationCorresponds to variant rs147875659dbSNPEnsembl.1
Isoform 4 (identifier: O43379-4)
Natural varianti1078A → T in MCPH2, uncertain pathological significance. 1

Keywords - Diseasei

Disease mutation, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNETi284403.
MalaCardsiWDR62.
MIMi604317. phenotype.
OpenTargetsiENSG00000075702.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA134963627.

Polymorphism and mutation databases

BioMutaiWDR62.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002818792 – 1518WD repeat-containing protein 62Add BLAST1517

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei33PhosphoserineCombined sources1
Modified residuei46PhosphothreonineCombined sources1
Modified residuei49PhosphoserineCombined sources1
Modified residuei50PhosphothreonineCombined sources1
Modified residuei52PhosphoserineCombined sources1
Modified residuei501PhosphoserineCombined sources1
Modified residuei944PhosphoserineBy similarity1
Modified residuei1053PhosphothreonineCombined sources1
Modified residuei1070PhosphoserineCombined sources1
Modified residuei1093PhosphoserineCombined sources1
Modified residuei1101PhosphoserineCombined sources1
Modified residuei1123PhosphoserineCombined sources1
Modified residuei1144PhosphoserineCombined sources1
Modified residuei1228PhosphoserineCombined sources1
Modified residuei1248PhosphoserineCombined sources1
Modified residuei1249PhosphoserineCombined sources1
Modified residuei1268PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO43379.
MaxQBiO43379.
PaxDbiO43379.
PeptideAtlasiO43379.
PRIDEiO43379.

PTM databases

iPTMnetiO43379.
PhosphoSitePlusiO43379.

Expressioni

Tissue specificityi

Present in fetal brain, enriched within the ventricular and subventricular zone (at protein level). In the embryonic brain it is expressed in mitotic neural precursor cells.1 Publication

Gene expression databases

BgeeiENSG00000075702.
CleanExiHS_WDR62.
ExpressionAtlasiO43379. baseline and differential.
GenevisibleiO43379. HS.

Organism-specific databases

HPAiCAB046468.
HPA043255.
HPA043639.

Interactioni

Subunit structurei

Interacts with CDK5RAP2, CEP152, CEP63 and KIAA0753 (PubMed:26297806). CEP63, CDK5RAP2, CEP152, WDR62 are proposed to form a stepwise assembled complex at the centrosome forming a ring near parental centrioles (PubMed:26297806).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
DYRK2Q926303EBI-714790,EBI-749432
MAGEB4O154813EBI-714790,EBI-751857
MAPK9P459844EBI-714790,EBI-713568
P4HA3Q7Z4N83EBI-714790,EBI-10181968
TBC1D23Q9NUY83EBI-714790,EBI-2853126
TBC1D23Q9NUY8-23EBI-714790,EBI-10314276

Protein-protein interaction databases

BioGridi129863. 45 interactors.
DIPiDIP-56792N.
IntActiO43379. 35 interactors.
MINTiMINT-1376343.
STRINGi9606.ENSP00000384792.

Structurei

3D structure databases

ProteinModelPortaliO43379.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati109 – 150WD 1Add BLAST42
Repeati153 – 194WD 2Add BLAST42
Repeati196 – 234WD 3Add BLAST39
Repeati291 – 330WD 4Add BLAST40
Repeati357 – 396WD 5Add BLAST40
Repeati402 – 450WD 6Add BLAST49
Repeati490 – 529WD 7Add BLAST40
Repeati532 – 574WD 8Add BLAST43
Repeati578 – 618WD 9Add BLAST41
Repeati626 – 665WD 10Add BLAST40
Repeati671 – 713WD 11Add BLAST43
Repeati714 – 752WD 12Add BLAST39
Repeati803 – 846WD 13Add BLAST44
Repeati1132 – 1173WD 14Add BLAST42
Repeati1255 – 1293WD 15Add BLAST39

Sequence similaritiesi

Contains 15 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1408. Eukaryota.
ENOG410Y87A. LUCA.
GeneTreeiENSGT00850000132329.
HOGENOMiHOG000010231.
HOVERGENiHBG108669.
InParanoidiO43379.
OMAiLASTFLW.
OrthoDBiEOG091G00HU.
PhylomeDBiO43379.
TreeFamiTF323254.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR024977. Apc4_WD40_dom.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
IPR030545. WDR62.
[Graphical view]
PANTHERiPTHR22847:SF434. PTHR22847:SF434. 3 hits.
PfamiPF12894. ANAPC4_WD40. 1 hit.
PF00400. WD40. 3 hits.
[Graphical view]
SMARTiSM00320. WD40. 12 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
SSF50998. SSF50998. 3 hits.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 3 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43379-1) [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
MAAVGSGGYA RNDAGEKLPS VMAGVPARRG QSSPPPAPPI CLRRRTRLST
60 70 80 90 100
ASEETVQNRV SLEKVLGITA QNSSGLTCDP GTGHVAYLAG CVVVILDPKE
110 120 130 140 150
NKQQHIFNTA RKSLSALAFS PDGKYIVTGE NGHRPAVRIW DVEEKNQVAE
160 170 180 190 200
MLGHKYGVAC VAFSPNMKHI VSMGYQHDMV LNVWDWKKDI VVASNKVSCR
210 220 230 240 250
VIALSFSEDS SYFVTVGNRH VRFWFLEVST ETKVTSTVPL VGRSGILGEL
260 270 280 290 300
HNNIFCGVAC GRGRMAGSTF CVSYSGLLCQ FNEKRVLEKW INLKVSLSSC
310 320 330 340 350
LCVSQELIFC GCTDGIVRIF QAHSLHYLAN LPKPHYLGVD VAQGLEPSFL
360 370 380 390 400
FHRKAEAVYP DTVALTFDPI HQWLSCVYKD HSIYIWDVKD INRVGKVWSE
410 420 430 440 450
LFHSSYVWNV EVYPEFEDQR ACLPSGSFLT CSSDNTIRFW NLDSSPDSHW
460 470 480 490 500
QKNIFSNTLL KVVYVENDIQ HLQDMSHFPD RGSENGTPMD VKAGVRVMQV
510 520 530 540 550
SPDGQHLASG DRSGNLRIHE LHFMDELVKV EAHDAEVLCL EYSKPETGLT
560 570 580 590 600
LLASASRDRL IHVLNVEKNY NLEQTLDDHS SSITAIKFAG NRDIQMISCG
610 620 630 640 650
ADKSIYFRSA QQGSDGLHFV RTHHVAEKTT LYDMDIDITQ KYVAVACQDR
660 670 680 690 700
NVRVYNTVNG KQKKCYKGSQ GDEGSLLKVH VDPSGTFLAT SCSDKSISVI
710 720 730 740 750
DFYSGECIAK MFGHSEIITS MKFTYDCHHL ITVSGDSCVF IWHLGPEITN
760 770 780 790 800
CMKQHLLEID HRQQQQHTND KKRSGHPRQD TYVSTPSEIH SLSPGEQTED
810 820 830 840 850
DLEEECEPEE MLKTPSKDSL DPDPRCLLTN GKLPLWAKRL LGDDDVADGL
860 870 880 890 900
AFHAKRSYQP HGRWAERAGQ EPLKTILDAQ DLDCYFTPMK PESLENSILD
910 920 930 940 950
SLEPQSLASL LSESESPQEA GRGHPSFLPQ QKESSEASEL ILYSLEAEVT
960 970 980 990 1000
VTGTDSQYCR KEVEAGPGDQ QGDSYLRVSS DSPKDQSPPE DSGESEADLE
1010 1020 1030 1040 1050
CSFAAIHSPA PPPDPAPRFA TSLPHFPGCA GPTEDELSLP EGPSVPSSSL
1060 1070 1080 1090 1100
PQTPEQEKFL RHHFETLTES PCRALGDVEA SEAEDHFFNP RLSISTQFLS
1110 1120 1130 1140 1150
SLQKASRFTH TFPPRATQCL VKSPEVKLMD RGGSQPRAGT GYASPDRTHV
1160 1170 1180 1190 1200
LAAGKAEETL EAWRPPPPCL TSLASCVPAS SVLPTDRNLP TPTSAPTPGL
1210 1220 1230 1240 1250
AQGVHAPSTC SYMEATASSR ARISRSISLG DSEGPIVATL AQPLRRPSSV
1260 1270 1280 1290 1300
GELASLGQEL QAITTATTPS LDSEGQEPAL RSWGNHEARA NLRLTLSSAC
1310 1320 1330 1340 1350
DGLLQPPVDT QPGVTVPAVS FPAPSPVEES ALRLHGSAFR PSLPAPESPG
1360 1370 1380 1390 1400
LPAHPSNPQL PEARPGIPGG TASLLEPTSG ALGLLQGSPA RWSEPWVPVE
1410 1420 1430 1440 1450
ALPPSPLELS RVGNILHRLQ TTFQEALDLY RVLVSSGQVD TGQQQARTEL
1460 1470 1480 1490 1500
VSTFLWIHSQ LEAECLVGTS VAPAQALPSP GPPSPPTLYP LASPDLQALL
1510
EHYSELLVQA VRRKARGH
Length:1,518
Mass (Da):165,954
Last modified:October 5, 2010 - v4
Checksum:i6E60A95B5774EF18
GO
Isoform 2 (identifier: O43379-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     458-483: TLLKVVYVENDIQHLQDMSHFPDRGS → LAPALQMCGRGHSRQPNTPSPGEIAS
     484-1518: Missing.

Note: No experimental confirmation available.
Show »
Length:483
Mass (Da):53,449
Checksum:i39ED04847DFE1BE2
GO
Isoform 3 (identifier: O43379-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     412-414: VYP → ALS
     415-1518: Missing.

Note: No experimental confirmation available.
Show »
Length:414
Mass (Da):45,740
Checksum:i598CF0B355B2F3EE
GO
Isoform 4 (identifier: O43379-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1073-1073: R → RELFPA

Show »
Length:1,523
Mass (Da):166,511
Checksum:iD970D15105708A8E
GO

Sequence cautioni

The sequence AAC27979 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAH17261 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti370I → T in BAC03488 (PubMed:14702039).Curated1
Sequence conflicti1174Missing in CAH56390 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06584365V → M in MCPH2. 2 PublicationsCorresponds to variant rs387907084dbSNPEnsembl.1
Natural variantiVAR_063702224W → S in MCPH2. 1 PublicationCorresponds to variant rs267607176dbSNPEnsembl.1
Natural variantiVAR_055014289K → R.Corresponds to variant rs12327568dbSNPEnsembl.1
Natural variantiVAR_065844438R → H in MCPH2; the mutant protein does not localize to the spindle pole during mitosis. 1 PublicationCorresponds to variant rs387907082dbSNPEnsembl.1
Natural variantiVAR_065845511D → N in MCPH2. 1 PublicationCorresponds to variant rs387907083dbSNPEnsembl.1
Natural variantiVAR_063703526E → K in MCPH2. 1 PublicationCorresponds to variant rs147875659dbSNPEnsembl.1
Natural variantiVAR_031299850L → S.2 PublicationsCorresponds to variant rs2285745dbSNPEnsembl.1
Natural variantiVAR_0550151305Q → L.2 PublicationsCorresponds to variant rs2074435dbSNPEnsembl.1
Natural variantiVAR_0576291311Q → E.Corresponds to variant rs35811023dbSNPEnsembl.1
Natural variantiVAR_0313001370G → S.1 PublicationCorresponds to variant rs17851503dbSNPEnsembl.1
Natural variantiVAR_0313011385L → F.3 PublicationsCorresponds to variant rs1008328dbSNPEnsembl.1
Isoform 4 (identifier: O43379-4)
Natural varianti1078A → T in MCPH2, uncertain pathological significance. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024077412 – 414VYP → ALS in isoform 3. 1 Publication3
Alternative sequenceiVSP_024078415 – 1518Missing in isoform 3. 1 PublicationAdd BLAST1104
Alternative sequenceiVSP_024079458 – 483TLLKV…PDRGS → LAPALQMCGRGHSRQPNTPS PGEIAS in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_024080484 – 1518Missing in isoform 2. 1 PublicationAdd BLAST1035
Alternative sequenceiVSP_0399061073R → RELFPA in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090617 mRNA. Translation: BAC03488.1.
BX647726 mRNA. Translation: CAH56191.1.
AL133651 mRNA. Translation: CAH56390.1.
AD000813 Genomic DNA. No translation available.
AC004144 Genomic DNA. Translation: AAC27979.1. Sequence problems.
BC017261 mRNA. Translation: AAH17261.1. Different initiation.
BC058939 mRNA. No translation available.
CCDSiCCDS33001.1. [O43379-1]
CCDS46059.1. [O43379-4]
PIRiT01437.
RefSeqiNP_001077430.1. NM_001083961.1. [O43379-4]
NP_775907.4. NM_173636.4. [O43379-1]
XP_016882154.1. XM_017026665.1. [O43379-4]
UniGeneiHs.116244.

Genome annotation databases

EnsembliENST00000270301; ENSP00000270301; ENSG00000075702. [O43379-1]
ENST00000401500; ENSP00000384792; ENSG00000075702. [O43379-4]
ENST00000587391; ENSP00000465525; ENSG00000075702. [O43379-2]
GeneIDi284403.
KEGGihsa:284403.
UCSCiuc002odc.3. human. [O43379-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090617 mRNA. Translation: BAC03488.1.
BX647726 mRNA. Translation: CAH56191.1.
AL133651 mRNA. Translation: CAH56390.1.
AD000813 Genomic DNA. No translation available.
AC004144 Genomic DNA. Translation: AAC27979.1. Sequence problems.
BC017261 mRNA. Translation: AAH17261.1. Different initiation.
BC058939 mRNA. No translation available.
CCDSiCCDS33001.1. [O43379-1]
CCDS46059.1. [O43379-4]
PIRiT01437.
RefSeqiNP_001077430.1. NM_001083961.1. [O43379-4]
NP_775907.4. NM_173636.4. [O43379-1]
XP_016882154.1. XM_017026665.1. [O43379-4]
UniGeneiHs.116244.

3D structure databases

ProteinModelPortaliO43379.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129863. 45 interactors.
DIPiDIP-56792N.
IntActiO43379. 35 interactors.
MINTiMINT-1376343.
STRINGi9606.ENSP00000384792.

PTM databases

iPTMnetiO43379.
PhosphoSitePlusiO43379.

Polymorphism and mutation databases

BioMutaiWDR62.

Proteomic databases

EPDiO43379.
MaxQBiO43379.
PaxDbiO43379.
PeptideAtlasiO43379.
PRIDEiO43379.

Protocols and materials databases

DNASUi284403.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000270301; ENSP00000270301; ENSG00000075702. [O43379-1]
ENST00000401500; ENSP00000384792; ENSG00000075702. [O43379-4]
ENST00000587391; ENSP00000465525; ENSG00000075702. [O43379-2]
GeneIDi284403.
KEGGihsa:284403.
UCSCiuc002odc.3. human. [O43379-1]

Organism-specific databases

CTDi284403.
DisGeNETi284403.
GeneCardsiWDR62.
GeneReviewsiWDR62.
HGNCiHGNC:24502. WDR62.
HPAiCAB046468.
HPA043255.
HPA043639.
MalaCardsiWDR62.
MIMi604317. phenotype.
613583. gene.
neXtProtiNX_O43379.
OpenTargetsiENSG00000075702.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA134963627.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1408. Eukaryota.
ENOG410Y87A. LUCA.
GeneTreeiENSGT00850000132329.
HOGENOMiHOG000010231.
HOVERGENiHBG108669.
InParanoidiO43379.
OMAiLASTFLW.
OrthoDBiEOG091G00HU.
PhylomeDBiO43379.
TreeFamiTF323254.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000075702-MONOMER.
SignaLinkiO43379.

Miscellaneous databases

ChiTaRSiWDR62. human.
GeneWikiiWDR62.
GenomeRNAii284403.
PROiO43379.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000075702.
CleanExiHS_WDR62.
ExpressionAtlasiO43379. baseline and differential.
GenevisibleiO43379. HS.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR024977. Apc4_WD40_dom.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
IPR030545. WDR62.
[Graphical view]
PANTHERiPTHR22847:SF434. PTHR22847:SF434. 3 hits.
PfamiPF12894. ANAPC4_WD40. 1 hit.
PF00400. WD40. 3 hits.
[Graphical view]
SMARTiSM00320. WD40. 12 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
SSF50998. SSF50998. 3 hits.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiWDR62_HUMAN
AccessioniPrimary (citable) accession number: O43379
Secondary accession number(s): Q63HP9
, Q659D7, Q8NBF7, Q96AD9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: October 5, 2010
Last modified: November 2, 2016
This is version 138 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 19
    Human chromosome 19: 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.