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Protein

Centrosomal protein of 192 kDa

Gene

CEP192

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

Functioni

Required for mitotic centrosome maturation and bipolar spindle assembly (PubMed:25042804, PubMed:17980596, PubMed:18207742). Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication (PubMed:25042804, PubMed:17980596, PubMed:18207742). Centrosome-specific activating scaffold for AURKA and PLK1 (PubMed:25042804).3 Publications

GO - Molecular functioni

  • phosphatase binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 192 kDa
Short name:
Cep192
Short name:
Cep192/SPD-21 Publication
Gene namesi
Name:CEP192
Synonyms:KIAA1569
ORF Names:PP8407
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000101639.18
HGNCiHGNC:25515 CEP192
MIMi616426 gene
neXtProtiNX_Q8TEP8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2313P → A: Increased presence on interphasic centrosomes, and decreased presence on mitotic centrosomes; no ubiquitination and unchanged levels in response to hypoxia. 1 Publication1

Organism-specific databases

DisGeNETi55125
OpenTargetsiENSG00000101639
PharmGKBiPA142672129

Polymorphism and mutation databases

DMDMi162416230

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003124951 – 2537Centrosomal protein of 192 kDaAdd BLAST2537

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei812PhosphoserineCombined sources1
Modified residuei1755PhosphoserineCombined sources1
Modified residuei2098PhosphoserineCombined sources1
Modified residuei2110PhosphoserineCombined sources1
Modified residuei2313Hydroxyproline1 Publication1

Post-translational modificationi

Hydroxylation by PHD1/EGLN2 at Pro-2313 promotes ubiquitination.1 Publication
Ubiquitinated by a SCF(SKP2) complex following proline hydroxylation.1 Publication

Keywords - PTMi

Hydroxylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8TEP8
MaxQBiQ8TEP8
PaxDbiQ8TEP8
PeptideAtlasiQ8TEP8
PRIDEiQ8TEP8
ProteomicsDBi74474
74475 [Q8TEP8-2]

PTM databases

iPTMnetiQ8TEP8
PhosphoSitePlusiQ8TEP8

Expressioni

Gene expression databases

BgeeiENSG00000101639 Expressed in 203 organ(s), highest expression level in heart
CleanExiHS_CEP192
ExpressionAtlasiQ8TEP8 baseline and differential
GenevisibleiQ8TEP8 HS

Organism-specific databases

HPAiHPA039392
HPA040503

Interactioni

Subunit structurei

Interacts with SHBG.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

ComplexPortaliCPX-1161 CEP192-PLK4 complex
DIPiDIP-52779N
IntActiQ8TEP8, 44 interactors
STRINGi9606.ENSP00000427550

Structurei

Secondary structure

12537
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8TEP8
SMRiQ8TEP8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IG8G Eukaryota
ENOG4110RMB LUCA
GeneTreeiENSGT00510000048187
HOGENOMiHOG000111525
HOVERGENiHBG106621
InParanoidiQ8TEP8
KOiK16725
OMAiQLQHTFG
OrthoDBiEOG091G00BY
PhylomeDBiQ8TEP8
TreeFamiTF329535

Family and domain databases

Gene3Di2.60.40.10, 3 hits
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR039103 Spd-2/CEP192
PANTHERiPTHR16029 PTHR16029, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: Q8TEP8-3) [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
MEDFRGIAEE SFPSFLTNSL FGNSGILENV TLSSNLGLPV AVSTLARDRS
60 70 80 90 100
STDNRYPDIQ ASYLVEGRFS VPSGSSPGSQ SDAEPRERLQ LSFQDDDSIS
110 120 130 140 150
RKKSYVESQR LSNALSKQSA LQMETAGPEE EPAGATESLQ GQDLFNRASP
160 170 180 190 200
LEQAQDSPID FHLQSWMNNK EPKIVVLDAG KHFEDKTLKS DLSHTSLLEN
210 220 230 240 250
EKLILPTSLE DSSDDDIDDE MFYDDHLEAY FEQLAIPGMI YEDLEGPEPP
260 270 280 290 300
EKGFKLPTNG LRQANENGSL NCKFQSENNS SLISLDSHSS ETTHKESEES
310 320 330 340 350
QVICLPGTSN SIGTGDSRRY TDGMLPFSSG TWGTEKEIEN LKGIVPDLNS
360 370 380 390 400
ECASKDVLVK TLRAIDVKLN SDNFHDANAN RGGFDLTDPV KQGAECPHQN
410 420 430 440 450
KTVLHMDGCL DTETPTVSIQ ENVDVASLKP ISDSGINFTD AIWSPTCERR
460 470 480 490 500
TCECHESIEK NKDKTDLPQS VVYQNEEGRW VTDLAYYTSF NSKQNLNVSL
510 520 530 540 550
SDEMNEDFRS GSEAFDLIAQ DEEEFNKEHQ FIQEENIDAH NTSVALGDTS
560 570 580 590 600
WGATINYSLL RKSRSTSDLD KDDASYLRLS LGEFFAQRSE ALGCLGGGNN
610 620 630 640 650
VKRPSFGYFI RSPEKREPIA LIRKSDVSRG NLEKEMAHLN HDLYSGDLNE
660 670 680 690 700
QSQAQLSEGS ITLQVEAVES TSQVDENDVT LTADKGKTED TFFMSNKPQR
710 720 730 740 750
YKDKLPDSGD SMLRISTIAS AIAEASVNTD PSQLAAMIKA LSNKTRDKTF
760 770 780 790 800
QEDEKQKDYS HVRHFLPNDL EKSNGSNALD MEKYLKKTEV SRYESALENF
810 820 830 840 850
SRASMSDTWD LSLPKEQTTQ DIHPVDLSAT SVSVRAPEEN TAAIVYVENG
860 870 880 890 900
ESENQESFRT INSSNSVTNR ENNSAVVDVK TCSIDNKLQD VGNDEKATSI
910 920 930 940 950
STPSDSYSSV RNPRITSLCL LKDCEEIRDN RENQRQNECV SEISNSEKHV
960 970 980 990 1000
TFENHRIVSP KNSDLKNTSP EHGGRGSEDE QESFRPSTSP LSHSSPSEIS
1010 1020 1030 1040 1050
GTSSSGCALE SFGSAAQQQQ PPCEQELSPL VCSPAGVSRL TYVSEPESSY
1060 1070 1080 1090 1100
PTTATDDALE DRKSDITSEL STTIIQGSPA ALEERAMEKL REKVPFQNRG
1110 1120 1130 1140 1150
KGTLSSIIQN NSDTRKATET TSLSSKPEYV KPDFRWSKDP SSKSGNLLET
1160 1170 1180 1190 1200
SEVGWTSNPE ELDPIRLALL GKSGLSCQVG SATSHPVSCQ EPIDEDQRIS
1210 1220 1230 1240 1250
PKDKSTAGRE FSGQVSHQTT SENQCTPIPS STVHSSVADM QNMPAAVHAL
1260 1270 1280 1290 1300
LTQPSLSAAP FAQRYLGTLP STGSTTLPQC HAGNATVCGF SGGLPYPAVA
1310 1320 1330 1340 1350
GEPVQNSVAV GICLGSNIGS GWMGTSSLCN PYSNTLNQNL LSTTKPFPVP
1360 1370 1380 1390 1400
SVGTNCGIEP WDSGVTSGLG SVRVPEELKL PHACCVGIAS QTLLSVLNPT
1410 1420 1430 1440 1450
DRWLQVSIGV LSISVNGEKV DLSTYRCLVF KNKAIIRPHA TEEIKVLFIP
1460 1470 1480 1490 1500
SSPGVFRCTF SVASWPCSTD AETIVQAEAL ASTVTLTAIA ESPVIEVETE
1510 1520 1530 1540 1550
KKDVLDFGDL TYGGWKALPL KLINRTHATV PIRLIINANA VAWRCFTFSK
1560 1570 1580 1590 1600
ESVRAPVEVA PCADVVTRLA GPSVVNHMMP ASYDGQDPEF LMIWVLFHSP
1610 1620 1630 1640 1650
KKQISSSDIL DSAEEFSAKV DIEVDSPNPT PVLRSVSLRA RAGIARIHAP
1660 1670 1680 1690 1700
RDLQTMHFLA KVASSRKQHL PLKNAGNIEV YLDIKVPEQG SHFSVDPKNL
1710 1720 1730 1740 1750
LLKPGEEHEV IVSFTPKDPE ACEERILKIF VQPFGPQYEV VLKGEVISSG
1760 1770 1780 1790 1800
SKPLSPGPCL DIPSILSNKQ FLAWGGVPLG RTQLQKLALR NNSASTTQHL
1810 1820 1830 1840 1850
RLLIRGQDQD CFQLQNTFGS EQRLTSNCEI RIHPKEDIFI SVLFAPTRLS
1860 1870 1880 1890 1900
CMLARLEIKQ LGNRSQPGIK FTIPLSGYGG TSNLILEGVK KLSDSYMVTV
1910 1920 1930 1940 1950
NGLVPGKESK IVFSVRNTGS RAAFVKAVGF KDSQKKVLLD PKVLRIFPDK
1960 1970 1980 1990 2000
FVLKERTQEN VTLIYNPSDR GINNKTATEL STVYLFGGDE ISRQQYRRAL
2010 2020 2030 2040 2050
LHKPEMIKQI LPEHSVLQNI NFVEAFQDEL LVTEVYDLPQ RPNDVQLFYG
2060 2070 2080 2090 2100
SMCKIILSVI GEFRDCISSR EFLQPSSKAS LESTSDLGAS GKHGGNVSLD
2110 2120 2130 2140 2150
VLPVKGPQGS PLLSRAARPP LDQLASEEPW TVLPEHLILV APSPCDMAKT
2160 2170 2180 2190 2200
GRFQIVNNSV RLLRFELCWP AHCLTVTPQH GCVAPESKLQ ILVSPNSSLS
2210 2220 2230 2240 2250
TKQSMFPWSG LIYIHCDDGQ KKIVKVQIRE DLTQVELLTR LTSKPFGILS
2260 2270 2280 2290 2300
PVSEPSVSHL VKPMTKPPST KVEIRNKSIT FPTTEPGETS ESCLELENHG
2310 2320 2330 2340 2350
TTDVKWHLSS LAPPYVKGVD ESGDVFRATY AAFRCSPISG LLESHGIQKV
2360 2370 2380 2390 2400
SITFLPRGRG DYAQFWDVEC HPLKEPHMKH TLRFQLSGQS IEAENEPENA
2410 2420 2430 2440 2450
CLSTDSLIKI DHLVKPRRQA VSEASARIPE QLDVTARGVY APEDVYRFRP
2460 2470 2480 2490 2500
TSVGESRTLK VNLRNNSFIT HSLKFLSPRE PFYVKHSKYS LRAQHYINMP
2510 2520 2530
VQFKPKSAGK FEALLVIQTD EGKSIAIRLI GEALGKN
Length:2,537
Mass (Da):279,111
Last modified:July 18, 2018 - v3
Checksum:iCA0A92F264280C3B
GO
Isoform 1 (identifier: Q8TEP8-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-603: MEDFRGIAEE...CLGGGNNVKR → MKTSDLV

Show »
Length:1,941
Mass (Da):213,146
Checksum:i0DA715D1FAABA8D4
GO
Isoform 2 (identifier: Q8TEP8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-603: MEDFRGIAEE...CLGGGNNVKR → MKTSDLV
     1999-2003: ALLHK → QGPAT
     2004-2537: Missing.

Show »
Length:1,407
Mass (Da):153,582
Checksum:i2B078D93D54C537E
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MR42A0A0A0MR42_HUMAN
Centrosomal protein of 192 kDa
CEP192
2,062Annotation score:
K7ENP4K7ENP4_HUMAN
Centrosomal protein of 192 kDa
CEP192
2,076Annotation score:
H0Y966H0Y966_HUMAN
Centrosomal protein of 192 kDa
CEP192
1,931Annotation score:
K7EPA2K7EPA2_HUMAN
Centrosomal protein of 192 kDa
CEP192
900Annotation score:
C9JT09C9JT09_HUMAN
Centrosomal protein of 192 kDa
CEP192
426Annotation score:
K7ELX0K7ELX0_HUMAN
Centrosomal protein of 192 kDa
CEP192
1,237Annotation score:
K7ERF9K7ERF9_HUMAN
Centrosomal protein of 192 kDa
CEP192
73Annotation score:
K7EQZ8K7EQZ8_HUMAN
Centrosomal protein of 192 kDa
CEP192
47Annotation score:
H0Y9P3H0Y9P3_HUMAN
Centrosomal protein of 192 kDa
CEP192
407Annotation score:
V9GYM2V9GYM2_HUMAN
Centrosomal protein of 192 kDa
CEP192
70Annotation score:

Sequence cautioni

The sequence AAL55870 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91559 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB66752 differs from that shown. Reason: Frameshift at positions 1792 and 1835.Curated
The sequence CAB66752 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti357V → I in AIA61642 (PubMed:25042804).Curated1
Sequence conflicti1402R → L in BAB84900 (PubMed:12693554).Curated1
Sequence conflicti1453P → A in AAL55870 (PubMed:15498874).Curated1
Sequence conflicti2115R → Q (PubMed:11230166).Curated1
Sequence conflicti2115R → Q in AAI44482 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0375141053T → A. Corresponds to variant dbSNP:rs10048340Ensembl.1
Natural variantiVAR_0507821109Q → P. Corresponds to variant dbSNP:rs11080623Ensembl.1
Natural variantiVAR_0375151365V → M1 PublicationCorresponds to variant dbSNP:rs2282542Ensembl.1
Natural variantiVAR_0507831544R → H2 PublicationsCorresponds to variant dbSNP:rs7228940Ensembl.1
Natural variantiVAR_0507841552S → P4 PublicationsCorresponds to variant dbSNP:rs578208Ensembl.1
Natural variantiVAR_0507851701L → F4 PublicationsCorresponds to variant dbSNP:rs6505780Ensembl.1
Natural variantiVAR_0507862051S → N1 PublicationCorresponds to variant dbSNP:rs2027698Ensembl.1
Natural variantiVAR_0507872121L → P4 PublicationsCorresponds to variant dbSNP:rs474337Ensembl.1
Natural variantiVAR_0507882271K → E1 PublicationCorresponds to variant dbSNP:rs3737379Ensembl.1
Natural variantiVAR_0507892449R → L4 PublicationsCorresponds to variant dbSNP:rs1786263Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0596571 – 603MEDFR…NNVKR → MKTSDLV in isoform 1 and isoform 2. Add BLAST603
Alternative sequenceiVSP_0596581999 – 2003ALLHK → QGPAT in isoform 2. 5
Alternative sequenceiVSP_0596592004 – 2537Missing in isoform 2. Add BLAST534

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
KJ567064 mRNA Translation: AIA61642.1
AP001357 Genomic DNA No translation available.
AP002449 Genomic DNA No translation available.
AL136818 mRNA Translation: CAB66752.1 Sequence problems.
AK074074 mRNA Translation: BAB84900.1
AF318363 mRNA Translation: AAL55870.1 Different initiation.
AK001214 mRNA Translation: BAA91559.1 Different initiation.
BC144481 mRNA Translation: AAI44482.1
CCDSiCCDS32792.2 [Q8TEP8-3]
RefSeqiNP_115518.3, NM_032142.3 [Q8TEP8-3]
UniGeneiHs.100914

Genome annotation databases

EnsembliENST00000506447; ENSP00000427550; ENSG00000101639 [Q8TEP8-3]
GeneIDi55125
KEGGihsa:55125
UCSCiuc010xac.3 human [Q8TEP8-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
KJ567064 mRNA Translation: AIA61642.1
AP001357 Genomic DNA No translation available.
AP002449 Genomic DNA No translation available.
AL136818 mRNA Translation: CAB66752.1 Sequence problems.
AK074074 mRNA Translation: BAB84900.1
AF318363 mRNA Translation: AAL55870.1 Different initiation.
AK001214 mRNA Translation: BAA91559.1 Different initiation.
BC144481 mRNA Translation: AAI44482.1
CCDSiCCDS32792.2 [Q8TEP8-3]
RefSeqiNP_115518.3, NM_032142.3 [Q8TEP8-3]
UniGeneiHs.100914

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4N7ZX-ray2.85B1134-1191[»]
ProteinModelPortaliQ8TEP8
SMRiQ8TEP8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

ComplexPortaliCPX-1161 CEP192-PLK4 complex
DIPiDIP-52779N
IntActiQ8TEP8, 44 interactors
STRINGi9606.ENSP00000427550

PTM databases

iPTMnetiQ8TEP8
PhosphoSitePlusiQ8TEP8

Polymorphism and mutation databases

DMDMi162416230

Proteomic databases

EPDiQ8TEP8
MaxQBiQ8TEP8
PaxDbiQ8TEP8
PeptideAtlasiQ8TEP8
PRIDEiQ8TEP8
ProteomicsDBi74474
74475 [Q8TEP8-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000506447; ENSP00000427550; ENSG00000101639 [Q8TEP8-3]
GeneIDi55125
KEGGihsa:55125
UCSCiuc010xac.3 human [Q8TEP8-3]

Organism-specific databases

CTDi55125
DisGeNETi55125
EuPathDBiHostDB:ENSG00000101639.18
GeneCardsiCEP192
HGNCiHGNC:25515 CEP192
HPAiHPA039392
HPA040503
MIMi616426 gene
neXtProtiNX_Q8TEP8
OpenTargetsiENSG00000101639
PharmGKBiPA142672129
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG8G Eukaryota
ENOG4110RMB LUCA
GeneTreeiENSGT00510000048187
HOGENOMiHOG000111525
HOVERGENiHBG106621
InParanoidiQ8TEP8
KOiK16725
OMAiQLQHTFG
OrthoDBiEOG091G00BY
PhylomeDBiQ8TEP8
TreeFamiTF329535

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2

Miscellaneous databases

ChiTaRSiCEP192 human
GenomeRNAii55125
PROiPR:Q8TEP8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101639 Expressed in 203 organ(s), highest expression level in heart
CleanExiHS_CEP192
ExpressionAtlasiQ8TEP8 baseline and differential
GenevisibleiQ8TEP8 HS

Family and domain databases

Gene3Di2.60.40.10, 3 hits
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR039103 Spd-2/CEP192
PANTHERiPTHR16029 PTHR16029, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCE192_HUMAN
AccessioniPrimary (citable) accession number: Q8TEP8
Secondary accession number(s): A0A060A9S4
, B7ZMF0, E9PF99, Q8WYT8, Q9H0F4, Q9NW27
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: July 18, 2018
Last modified: November 7, 2018
This is version 125 of the entry and version 3 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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