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Protein

C2 domain-containing protein 3

Gene

C2CD3

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

Functioni

Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3.2 Publications

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
C2 domain-containing protein 3
Gene namesi
Name:C2CD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:24564. C2CD3.

Subcellular locationi

GO - Cellular componenti

  • centriolar satellite Source: UniProtKB
  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary basal body Source: Ensembl
  • cytosol Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Orofaciodigital syndrome 14 (OFD14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features.
See also OMIM:615948
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0711961029C → G in OFD14. 1 PublicationCorresponds to variant rs587777654dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi26005.
MalaCardsiC2CD3.
MIMi615948. phenotype.
OpenTargetsiENSG00000168014.
PharmGKBiPA162379082.

Polymorphism and mutation databases

BioMutaiC2CD3.
DMDMi313104297.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003112391 – 2353C2 domain-containing protein 3Add BLAST2353

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei466PhosphoserineBy similarity1
Modified residuei728PhosphoserineCombined sources1
Modified residuei1891PhosphoserineCombined sources1
Modified residuei2114PhosphoserineCombined sources1
Modified residuei2132PhosphoserineCombined sources1

Post-translational modificationi

Was found to be N-glycosylated on Asn-1543 (PubMed:16335952). However, since it is probably cytoplasmic, N-glycosylation is highly unsure.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ4AC94.
PaxDbiQ4AC94.
PeptideAtlasiQ4AC94.
PRIDEiQ4AC94.

PTM databases

iPTMnetiQ4AC94.
PhosphoSitePlusiQ4AC94.

Expressioni

Gene expression databases

BgeeiENSG00000168014.
CleanExiHS_C2CD3.
ExpressionAtlasiQ4AC94. baseline and differential.
GenevisibleiQ4AC94. HS.

Organism-specific databases

HPAiHPA038552.
HPA038553.
HPA040433.

Interactioni

Subunit structurei

Interacts with IFT88, BBS4 and PCM1 (By similarity). Interacts with OFD1; OFD1 may act as a negative regulator of C2CD3. Associates with the BBSome complex.By similarity1 Publication

Protein-protein interaction databases

BioGridi117480. 15 interactors.
IntActiQ4AC94. 12 interactors.
STRINGi9606.ENSP00000323339.

Structurei

3D structure databases

ProteinModelPortaliQ4AC94.
SMRiQ4AC94.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1163 – 1289C2 1Add BLAST127
Domaini1622 – 1728C2 2Add BLAST107

Sequence similaritiesi

Contains 2 C2 domains.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IDYN. Eukaryota.
ENOG410XNN4. LUCA.
GeneTreeiENSGT00510000048072.
HOVERGENiHBG107544.
InParanoidiQ4AC94.
KOiK16751.
OMAiCSGEACF.
OrthoDBiEOG091G00E0.
PhylomeDBiQ4AC94.
TreeFamiTF323591.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
[Graphical view]
PfamiPF00168. C2. 3 hits.
[Graphical view]
SMARTiSM00239. C2. 5 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 3 hits.

Sequences (5)i

Sequence statusi: Complete.

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

Isoform 5 (identifier: Q4AC94-5) [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
MKQRKGQGSG GSRGRKKRGL SDISPSTSLP PLVEGQLRCF LKLTVNRVIW
60 70 80 90 100
KIAKPPTCVL VRVRWWGETS DGTLFCPRDA LQTEPKAVRT TTRYAIRCGP
110 120 130 140 150
KQFTSYLTDM AVLVLEVITK LDGLPIGRVQ INGLAQLSPT HQINGFFTIV
160 170 180 190 200
SSTSKKLGEL QVSLALEPLS ETYDSYHPLP TTDMTENVLL SKQGFRENTE
210 220 230 240 250
PSSTQFQVPS RPRDIHTIKI DGKELAANSS RSTTPRGKDH VCFAENPDTI
260 270 280 290 300
KDSSFGLQHS LNSGQSLESV TLKGRAPRKQ MSLLNSSEFQ PQIRTVAKSH
310 320 330 340 350
SDSCILSSNN LPTKDLLSAL LEQGNKLRNA MVISAMKSSP ETSMLLDQVH
360 370 380 390 400
PPINEDSLRA STQIRAFSRN RFKDHIEDHL LPSTENTFWR HDTKADTRAI
410 420 430 440 450
QLLLGSAELS QGNFWDGLGS PPDSPSPGSD VYCISELNDP QYDQSLLENL
460 470 480 490 500
FYTAPKSDTS ISDFLSEEDD IVPSKKISQS TALARSSKVL ESSDHKLKKR
510 520 530 540 550
SAGKRNRNLV EQQMLSETPE DAQTMTLSVD RLALLGRTHS VRIIIETMGV
560 570 580 590 600
PPDSPQMTPG KKSYAGPPPK VTTAKKRTFF VEYHFPVGFS ESGLGKTALI
610 620 630 640 650
TEVVRLASSK ITDGKVKFQQ RFVFPVQFGG PMIEHWWNSN LTFQIYVKKT
660 670 680 690 700
PQKKPEVIGS VSLSLRAVIQ SELLSFSDQL PVQQENGQSP FGPLKVTMEL
710 720 730 740 750
ITDNKDFTGI NTKLSGNTHY TPLCAPTSPN KALPELNQDM TCTKNPQNLN
760 770 780 790 800
QIHEETAKKA QNLVLPNRKS PSPVAPHPST FVATPASHNL VNQTNGTTKE
810 820 830 840 850
SALLLHVLLM VPDGKDFISG ESEKQSPCNV YLNCKLFSTE EVTRSVIAWG
860 870 880 890 900
TTQPVFNFSQ VIPVSLSSKY LERLKNNVMV IETWNKVRSP GQDKLLGLVK
910 920 930 940 950
LPLHQFYMSF KDAKISRLLL DAQYPVVAVD SYMPVIDVFS GHQNGSLRVF
960 970 980 990 1000
LAMGSSNQIM ALQRLKNEEG TLPPFSPRPA HFLDQPTAAS VAMAEDRGNG
1010 1020 1030 1040 1050
LMEHCFEIHI EMVKGLAPLQ ATVWGEADCY VQYYFPVQHS QSSVLKGPEF
1060 1070 1080 1090 1100
LENGITLKPF RTATTLCVPD PIFNSEHHHS LLLPAEVPVQ RLLLSAFSAQ
1110 1120 1130 1140 1150
GLVPGGGVQF EIWCRYYYPN VRDQKVAKGT LPLSRICAMV TTQHREDVGI
1160 1170 1180 1190 1200
QTFNLPLTPR IENRKELRNQ SSGLLDVGLR YRRSPRTAEG VLAARTVSIS
1210 1220 1230 1240 1250
VQIIRACGLQ AAAKALAERE PALQFSATVG VNASVTTHLS FLPQGEQRRT
1260 1270 1280 1290 1300
HPVACSFCPE FSHHVEFTCN LVTQHCSGEA CFLAELLEFA EVIFAVYHEN
1310 1320 1330 1340 1350
TKSASDIISI ESCKEYLLGV VKVPTKELLI KRSGITGWYP IILPEDGGLP
1360 1370 1380 1390 1400
HGLELMQKIV GGLELSISFT HRGDRERVLE AAEHLGWSFE NSLKDFVRMD
1410 1420 1430 1440 1450
EGEPATVTIS TPRLWLPIHC VLLAGHNHIH KNTYCYLRYK FYDHEAFWTP
1460 1470 1480 1490 1500
LKKPKESVNK KQIMVTFKAS KRAEVTRGPS LLWYFREERL EIQVWRAYGN
1510 1520 1530 1540 1550
DSVERPHQTD SWIGSAYVDL ARLGERSART LTVSGVYPLF GRNASNLSGA
1560 1570 1580 1590 1600
ALRVHVVLSS LSSHLEPTHE LDSMDCSSHS ESEQLPRRND EVQLSPPEVI
1610 1620 1630 1640 1650
SCHQKSPAST QVPCSSTTAE VRLTQEGPAD LDGTFAVSIL VERAMHLSLK
1660 1670 1680 1690 1700
GSPLTERKVS IPSCCVSFAT ADESSPVYTQ VVENTDSPIW NFQQQSRLSK
1710 1720 1730 1740 1750
ELLLDPQQTL VFKVWHKGDE ERVIGFASVD LSPLLSGFQF VCGWYNITDF
1760 1770 1780 1790 1800
SGECQGQIKV AVSPLESLIH FKEERQARRG VETSKSLIPI YSPFSFPASD
1810 1820 1830 1840 1850
TYAAFSSHMA RQTLDQLAHA SSKELDFSSP GRSDTTRSQA SRHEEHVQNI
1860 1870 1880 1890 1900
RRFHESLHLQ GEAPLPCDDK LTTSPLSSQT SILTSLRKNL SELDQIQRYF
1910 1920 1930 1940 1950
RQKLTKPFLP LSPQTQTAIS QHQESCRDHL GPGASSLDPG SQCILEKSSN
1960 1970 1980 1990 2000
LVLQVSSLIT DLQTITRDSQ AALSSHRARS RSNKATTLPD AQDTEALQER
2010 2020 2030 2040 2050
CTMPDEPLVR APDKGTDSPS PPPLEETSNG GRMLHESLRH AVPITRMQSS
2060 2070 2080 2090 2100
EDTEAGPAYS DEDYEEDIIE PRTLNEITTV TDKTSPWSSV ISDTSEVISP
2110 2120 2130 2140 2150
QPDEVQREGP SCPSPGPFCR EELMVKSSFL SSPERAVNPH LPRQGSPSQS
2160 2170 2180 2190 2200
LVACECEASK ARVGGESASA NPQPIPCPTL SGAQQSSTFV GWSSPQTDQN
2210 2220 2230 2240 2250
KEPKSEAPAE NEAATSELGD SADSFKKLPL NLASQSRREN HKGPPIDSSD
2260 2270 2280 2290 2300
IRQRQVTTGS ETSTKQSLLL PGPIVVPNFF LPPQQLEASL RMLSLSATLP
2310 2320 2330 2340 2350
PAATTDQDKS EATRGALSQR PCRPRPNSLP LNLPEEETLR IARIFSSQYS

QKD
Length:2,353
Mass (Da):260,389
Last modified:November 30, 2010 - v4
Checksum:iD559291AEB1B0DA1
GO
Isoform 1 (identifier: Q4AC94-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1961-1963: DLQ → GSY
     1964-2353: Missing.

Show »
Length:1,963
Mass (Da):218,127
Checksum:i15816217019D71F1
GO
Isoform 2 (identifier: Q4AC94-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1364-1382: Missing.
     1881-1908: SILTSLRKNLSELDQIQRYFRQKLTKPF → PEAWRRGDCLMWYRGSWRASGFGKKKT
     1909-2353: Missing.

Note: No experimental confirmation available.
Show »
Length:1,888
Mass (Da):210,003
Checksum:i71350B1DD1B5624D
GO
Isoform 3 (identifier: Q4AC94-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1961-1968: DLQTITRD → LPAPNDS
     1969-2353: Missing.

Note: No experimental confirmation available.
Show »
Length:1,967
Mass (Da):218,515
Checksum:i74C3147FB303BD47
GO
Isoform 4 (identifier: Q4AC94-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1888-1921: KNLSELDQIQRYFRQKLTKPFLPLSPQTQTAISQ → SSPSLSYPSALRLKRPSHSTRRAVGTILGQVPAA
     1922-2353: Missing.

Note: No experimental confirmation available.
Show »
Length:1,921
Mass (Da):213,274
Checksum:iD7EEDBB5AD2F9102
GO

Sequence cautioni

The sequence BAC03654 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC86334 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti143I → T in BAE17137 (Ref. 1) Curated1
Sequence conflicti740M → V in BAE17137 (Ref. 1) Curated1
Sequence conflicti846V → A in AAI10509 (PubMed:15489334).Curated1
Sequence conflicti1141T → A in BAE17137 (Ref. 1) Curated1
Sequence conflicti1351H → R in BAE17137 (Ref. 1) Curated1
Sequence conflicti1417P → S in BAE17137 (Ref. 1) Curated1
Sequence conflicti1625Q → R in BAC86334 (Ref. 1) Curated1
Sequence conflicti1777A → E in BAC86334 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037181773P → R.Corresponds to variant rs34050666dbSNPEnsembl.1
Natural variantiVAR_037182997R → Q.1 PublicationCorresponds to variant rs11235995dbSNPEnsembl.1
Natural variantiVAR_0711961029C → G in OFD14. 1 PublicationCorresponds to variant rs587777654dbSNPEnsembl.1
Natural variantiVAR_0371831219R → Q.3 PublicationsCorresponds to variant rs826058dbSNPEnsembl.1
Natural variantiVAR_0371841297Y → C.Corresponds to variant rs1095423dbSNPEnsembl.1
Natural variantiVAR_0371851663S → N.Corresponds to variant rs12419308dbSNPEnsembl.1
Natural variantiVAR_0756971743G → C.1 Publication1
Natural variantiVAR_0371861831G → W.Corresponds to variant rs1632245dbSNPEnsembl.1
Natural variantiVAR_0371871832R → G.Corresponds to variant rs1632242dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0294441364 – 1382Missing in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0294451881 – 1908SILTS…LTKPF → PEAWRRGDCLMWYRGSWRAS GFGKKKT in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_0294461888 – 1921KNLSE…TAISQ → SSPSLSYPSALRLKRPSHST RRAVGTILGQVPAA in isoform 4. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_0294471909 – 2353Missing in isoform 2. 1 PublicationAdd BLAST445
Alternative sequenceiVSP_0346761922 – 2353Missing in isoform 4. 1 PublicationAdd BLAST432
Alternative sequenceiVSP_0294481961 – 1968DLQTITRD → LPAPNDS in isoform 3. 1 Publication8
Alternative sequenceiVSP_0346771961 – 1963DLQ → GSY in isoform 1. 3 Publications3
Alternative sequenceiVSP_0346781964 – 2353Missing in isoform 1. 3 PublicationsAdd BLAST390
Alternative sequenceiVSP_0346791969 – 2353Missing in isoform 3. 1 PublicationAdd BLAST385

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB231763 mRNA. Translation: BAE46898.1.
AB231764 mRNA. Translation: BAE17137.1.
AP000577 Genomic DNA. No translation available.
AP002392 Genomic DNA. No translation available.
AP003717 Genomic DNA. No translation available.
AK091397 mRNA. Translation: BAC03654.1. Different initiation.
AK125894 mRNA. Translation: BAC86334.1. Different initiation.
BC035599 mRNA. Translation: AAH35599.1.
BC110508 mRNA. Translation: AAI10509.1.
AL080220 mRNA. Translation: CAB45779.1.
AL833903 mRNA. Translation: CAD38759.1.
CCDSiCCDS31636.1. [Q4AC94-1]
CCDS66167.1. [Q4AC94-5]
PIRiT12555.
RefSeqiNP_001273506.1. NM_001286577.1. [Q4AC94-5]
NP_056346.3. NM_015531.5. [Q4AC94-1]
UniGeneiHs.557938.
Hs.694798.

Genome annotation databases

EnsembliENST00000313663; ENSP00000323339; ENSG00000168014. [Q4AC94-1]
ENST00000334126; ENSP00000334379; ENSG00000168014. [Q4AC94-5]
GeneIDi26005.
KEGGihsa:26005.
UCSCiuc001ouu.4. human. [Q4AC94-5]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB231763 mRNA. Translation: BAE46898.1.
AB231764 mRNA. Translation: BAE17137.1.
AP000577 Genomic DNA. No translation available.
AP002392 Genomic DNA. No translation available.
AP003717 Genomic DNA. No translation available.
AK091397 mRNA. Translation: BAC03654.1. Different initiation.
AK125894 mRNA. Translation: BAC86334.1. Different initiation.
BC035599 mRNA. Translation: AAH35599.1.
BC110508 mRNA. Translation: AAI10509.1.
AL080220 mRNA. Translation: CAB45779.1.
AL833903 mRNA. Translation: CAD38759.1.
CCDSiCCDS31636.1. [Q4AC94-1]
CCDS66167.1. [Q4AC94-5]
PIRiT12555.
RefSeqiNP_001273506.1. NM_001286577.1. [Q4AC94-5]
NP_056346.3. NM_015531.5. [Q4AC94-1]
UniGeneiHs.557938.
Hs.694798.

3D structure databases

ProteinModelPortaliQ4AC94.
SMRiQ4AC94.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117480. 15 interactors.
IntActiQ4AC94. 12 interactors.
STRINGi9606.ENSP00000323339.

PTM databases

iPTMnetiQ4AC94.
PhosphoSitePlusiQ4AC94.

Polymorphism and mutation databases

BioMutaiC2CD3.
DMDMi313104297.

Proteomic databases

EPDiQ4AC94.
PaxDbiQ4AC94.
PeptideAtlasiQ4AC94.
PRIDEiQ4AC94.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313663; ENSP00000323339; ENSG00000168014. [Q4AC94-1]
ENST00000334126; ENSP00000334379; ENSG00000168014. [Q4AC94-5]
GeneIDi26005.
KEGGihsa:26005.
UCSCiuc001ouu.4. human. [Q4AC94-5]

Organism-specific databases

CTDi26005.
DisGeNETi26005.
GeneCardsiC2CD3.
H-InvDBHIX0009929.
HGNCiHGNC:24564. C2CD3.
HPAiHPA038552.
HPA038553.
HPA040433.
MalaCardsiC2CD3.
MIMi615944. gene.
615948. phenotype.
neXtProtiNX_Q4AC94.
OpenTargetsiENSG00000168014.
PharmGKBiPA162379082.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IDYN. Eukaryota.
ENOG410XNN4. LUCA.
GeneTreeiENSGT00510000048072.
HOVERGENiHBG107544.
InParanoidiQ4AC94.
KOiK16751.
OMAiCSGEACF.
OrthoDBiEOG091G00E0.
PhylomeDBiQ4AC94.
TreeFamiTF323591.

Enzyme and pathway databases

ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Miscellaneous databases

ChiTaRSiC2CD3. human.
GenomeRNAii26005.
PROiQ4AC94.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168014.
CleanExiHS_C2CD3.
ExpressionAtlasiQ4AC94. baseline and differential.
GenevisibleiQ4AC94. HS.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
[Graphical view]
PfamiPF00168. C2. 3 hits.
[Graphical view]
SMARTiSM00239. C2. 5 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 3 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiC2CD3_HUMAN
AccessioniPrimary (citable) accession number: Q4AC94
Secondary accession number(s): C9JR55
, E2QRD1, Q2NLE1, Q3C1U9, Q6ZU92, Q8IYM4, Q8NB87, Q8NDH7, Q9Y4M2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 30, 2010
Last modified: November 30, 2016
This is version 93 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 11
    Human chromosome 11: 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.