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Protein

KN motif and ankyrin repeat domain-containing protein 1

Gene

KANK1

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

Functioni

Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration. Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes. Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1. Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma.4 Publications

GO - Molecular functioni

  • beta-catenin binding Source: UniProtKB

GO - Biological processi

  • negative regulation of actin filament polymerization Source: UniProtKB
  • negative regulation of cell migration Source: UniProtKB
  • negative regulation of insulin receptor signaling pathway Source: UniProtKB
  • negative regulation of lamellipodium morphogenesis Source: UniProtKB
  • negative regulation of neuron projection development Source: UniProtKB
  • negative regulation of Rho protein signal transduction Source: UniProtKB
  • negative regulation of ruffle assembly Source: UniProtKB
  • negative regulation of substrate adhesion-dependent cell spreading Source: UniProtKB
  • positive regulation of catenin import into nucleus Source: UniProtKB
  • positive regulation of Wnt signaling pathway Source: UniProtKB
  • positive regulation of wound healing Source: UniProtKB
  • regulation of establishment of cell polarity Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
KN motif and ankyrin repeat domain-containing protein 1
Alternative name(s):
Ankyrin repeat domain-containing protein 15
Kidney ankyrin repeat-containing protein
Gene namesi
Name:KANK1
Synonyms:ANKRD15, KANK, KIAA0172
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:19309. KANK1.

Subcellular locationi

Isoform 1 :
Isoform 2 :

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
  • plasma membrane Source: HPA
  • ruffle membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Cerebral palsy, spastic quadriplegic 2 (CPSQ2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of mental retardation. Neuroimaging shows brain atrophy and ventriculomegaly.
See also OMIM:612900

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi43L → A: Nuclear localization; when associated A-52; A-125; A-129; A-134; A-613; A-616; A-620 and A-622. 1 Publication1
Mutagenesisi52I → A: Nuclear localization; when associated A-43; A-125; A-129; A-134; A-613; A-616; A-620 and A-622. 1 Publication1
Mutagenesisi65 – 68KRRK → AAAA: Enhanced cytoplasmic localization; when associated with 979-A--A-981 and 991-A-A-992. 1 Publication4
Mutagenesisi125L → A: Nuclear localization; when associated A-43; A-52; A-129; A-134; A-613; A-616; A-620 and A-622. 1 Publication1
Mutagenesisi129L → A: Nuclear localization; when associated A-43; A-52; A-125; A-134; A-613; A-616; A-620 and A-622. 1 Publication1
Mutagenesisi134I → A: Nuclear localization; when associated A-43; A-52; A-125; A-129; A-613; A-616; A-620 and A-622. 1 Publication1
Mutagenesisi325S → A: Abolishes phosphorylation by PKB. Abolishes interaction with YWHAB; YWHAG; YWHAE; YWHAH; YWHAQ; YWHAZ and SFN. 1 Publication1
Mutagenesisi613L → A: Nuclear localization; when associated A-43; A-52; A-125; A-129; A-134; A-616; A-620 and A-622. 1 Publication1
Mutagenesisi616L → A: Nuclear localization; when associated A-43; A-52; A-125; A-129; A-134; A-613; A-620 and A-622. 1 Publication1
Mutagenesisi620L → A: Nuclear localization; when associated A-43; A-52; A-125; A-129; A-134; A-613; A-616 and A-622. 1 Publication1
Mutagenesisi622L → A: Nuclear localization; when associated A-43; A-52; A-125; A-129; A-134; A-613; A-616 and A-620. 1 Publication1
Mutagenesisi979 – 981KKK → AAA: Enhanced cytoplasmic localization; when associated with 65-A--A-68 and 991-A-A-992. 1 Publication3
Mutagenesisi991 – 992KK → AA: Enhanced cytoplasmic localization; when associated with 65-A--68 and 979-A--A-981. 1 Publication2

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi23189.
MalaCardsiKANK1.
MIMi612900. phenotype.
OpenTargetsiENSG00000107104.
Orphaneti210141. Inherited congenital spastic tetraplegia.
PharmGKBiPA162392554.

Polymorphism and mutation databases

BioMutaiKANK1.
DMDMi73920184.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000669111 – 1352KN motif and ankyrin repeat domain-containing protein 1Add BLAST1352

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei186PhosphoserineCombined sources1
Modified residuei325Phosphoserine; by PKBCombined sources1 Publication1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ14678.
MaxQBiQ14678.
PaxDbiQ14678.
PeptideAtlasiQ14678.
PRIDEiQ14678.

PTM databases

iPTMnetiQ14678.
PhosphoSitePlusiQ14678.
SwissPalmiQ14678.

Expressioni

Tissue specificityi

Widely expressed. Isoform 1 is predominantly expressed in heart and kidney. Isoform 2 probably is widely expressed at basic levels.1 Publication

Gene expression databases

BgeeiENSG00000107104.
CleanExiHS_KANK1.
ExpressionAtlasiQ14678. baseline and differential.
GenevisibleiQ14678. HS.

Organism-specific databases

HPAiHPA005539.
HPA056090.

Interactioni

Subunit structurei

Interacts with YWHAQ; the interaction requires KANK1 phosphorylation at Ser-325 and is enhanced by growth factor stimulation. Interacts with YWHAB, YWHAG, YWHAE, YWHAH, YWHAZ and SFN; the interaction requires KANK1 phosphorylation at Ser-325. Interacts with ARFGEF1; however, colocalization cannot be experimentally confirmed. Interacts with BAIAP2. Interacts (via ANK repeats 1-5) with KIF21A (via coiled coil region); KIF21A enhances translocation of KANK1 to the plasma membrane. Interacts with CTNNB1.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BAIAP2Q9UQB86EBI-2556221,EBI-525456
BAIAP2Q9UQB8-44EBI-6173812,EBI-6174091
CTNNB1P352222EBI-2556221,EBI-491549
KIF21AQ7Z4S63EBI-6173812,EBI-2691397
YWHAEP622583EBI-6173812,EBI-356498
YWHAGP619813EBI-6173812,EBI-359832
YWHAHQ049173EBI-6173812,EBI-306940
YWHAQP273483EBI-6173812,EBI-359854

GO - Molecular functioni

  • beta-catenin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi116798. 12 interactors.
DIPiDIP-56491N.
IntActiQ14678. 15 interactors.
MINTiMINT-7997401.
STRINGi9606.ENSP00000371734.

Structurei

3D structure databases

ProteinModelPortaliQ14678.
SMRiQ14678.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1161 – 1191ANK 1Add BLAST31
Repeati1195 – 1228ANK 2Add BLAST34
Repeati1233 – 1262ANK 3Add BLAST30
Repeati1266 – 1298ANK 4Add BLAST33
Repeati1300 – 1329ANK 5Add BLAST30

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni291 – 467Interaction with KIF21A1 PublicationAdd BLAST177
Regioni1156 – 1308Interaction with KIF21A1 PublicationAdd BLAST153

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili258 – 316Sequence analysisAdd BLAST59
Coiled coili361 – 395Sequence analysisAdd BLAST35
Coiled coili446 – 500Sequence analysisAdd BLAST55

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi43 – 52Nuclear export signal 1 (NES 1)10
Motifi65 – 68Nuclear localization signal 1 (NLS 1)4
Motifi125 – 134Nuclear export signal 2 (NES 2)10
Motifi613 – 622Nuclear export signal 3 (NES 3)10
Motifi979 – 992Nuclear localization signal 2 (NLS 2)Add BLAST14

Sequence similaritiesi

Contains 5 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0514. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00530000063448.
HOGENOMiHOG000230897.
HOVERGENiHBG050511.
InParanoidiQ14678.
OMAiMTGLDHY.
OrthoDBiEOG091G0D3F.
PhylomeDBiQ14678.
TreeFamiTF324499.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR021939. KN_motif.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
PF12075. KN_motif. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative promoter usage. AlignAdd to basket

Isoform 1 (identifier: Q14678-1) [UniParc]FASTAAdd to basket
Also known as: Kank-L

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
MAHTTKVNGS ASGKAGDILS GDQDKEQKDP YFVETPYGYQ LDLDFLKYVD
60 70 80 90 100
DIQKGNTIKR LNIQKRRKPS VPCPEPRTTS GQQGIWTSTE SLSSSNSDDN
110 120 130 140 150
KQCPNFLIAR SQVTSTPISK PPPPLETSLP FLTIPENRQL PPPSPQLPKH
160 170 180 190 200
NLHVTKTLME TRRRLEQERA TMQMTPGEFR RPRLASFGGM GTTSSLPSFV
210 220 230 240 250
GSGNHNPAKH QLQNGYQGNG DYGSYAPAAP TTSSMGSSIR HSPLSSGIST
260 270 280 290 300
PVTNVSPMHL QHIREQMAIA LKRLKELEEQ VRTIPVLQVK ISVLQEEKRQ
310 320 330 340 350
LVSQLKNQRA ASQINVCGVR KRSYSAGNAS QLEQLSRARR SGGELYIDYE
360 370 380 390 400
EEEMETVEQS TQRIKEFRQL TADMQALEQK IQDSSCEASS ELRENGECRS
410 420 430 440 450
VAVGAEENMN DIVVYHRGSR SCKDAAVGTL VEMRNCGVSV TEAMLGVMTE
460 470 480 490 500
ADKEIELQQQ TIESLKEKIY RLEVQLRETT HDREMTKLKQ ELQAAGSRKK
510 520 530 540 550
VDKATMAQPL VFSKVVEAVV QTRDQMVGSH MDLVDTCVGT SVETNSVGIS
560 570 580 590 600
CQPECKNKVV GPELPMNWWI VKERVEMHDR CAGRSVEMCD KSVSVEVSVC
610 620 630 640 650
ETGSNTEESV NDLTLLKTNL NLKEVRSIGC GDCSVDVTVC SPKECASRGV
660 670 680 690 700
NTEAVSQVEA AVMAVPRTAD QDTSTDLEQV HQFTNTETAT LIESCTNTCL
710 720 730 740 750
STLDKQTSTQ TVETRTVAVG EGRVKDINSS TKTRSIGVGT LLSGHSGFDR
760 770 780 790 800
PSAVKTKESG VGQININDNY LVGLKMRTIA CGPPQLTVGL TASRRSVGVG
810 820 830 840 850
DDPVGESLEN PQPQAPLGMM TGLDHYIERI QKLLAEQQTL LAENYSELAE
860 870 880 890 900
AFGEPHSQMG SLNSQLISTL SSINSVMKSA STEELRNPDF QKTSLGKITG
910 920 930 940 950
NYLGYTCKCG GLQSGSPLSS QTSQPEQEVG TSEGKPISSL DAFPTQEGTL
960 970 980 990 1000
SPVNLTDDQI AAGLYACTNN ESTLKSIMKK KDGNKDSNGA KKNLQFVGIN
1010 1020 1030 1040 1050
GGYETTSSDD SSSDESSSSE SDDECDVIEY PLEEEEEEED EDTRGMAEGH
1060 1070 1080 1090 1100
HAVNIEGLKS ARVEDEMQVQ ECEPEKVEIR ERYELSEKML SACNLLKNTI
1110 1120 1130 1140 1150
NDPKALTSKD MRFCLNTLQH EWFRVSSQKS AIPAMVGDYI AAFEAISPDV
1160 1170 1180 1190 1200
LRYVINLADG NGNTALHYSV SHSNFEIVKL LLDADVCNVD HQNKAGYTPI
1210 1220 1230 1240 1250
MLAALAAVEA EKDMRIVEEL FGCGDVNAKA SQAGQTALML AVSHGRIDMV
1260 1270 1280 1290 1300
KGLLACGADV NIQDDEGSTA LMCASEHGHV EIVKLLLAQP GCNGHLEDND
1310 1320 1330 1340 1350
GSTALSIALE AGHKDIAVLL YAHVNFAKAQ SPGTPRLGRK TSPGPTHRGS

FD
Length:1,352
Mass (Da):147,289
Last modified:August 30, 2005 - v3
Checksum:i0C3993143391363B
GO
Isoform 2 (identifier: Q14678-2) [UniParc]FASTAAdd to basket
Also known as: Kank-S

The sequence of this isoform differs from the canonical sequence as follows:
     1-158: Missing.

Show »
Length:1,194
Mass (Da):129,782
Checksum:iF7CB58D947CCCE4C
GO

Sequence cautioni

The sequence BAA11489 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026212206N → K.1 PublicationCorresponds to variant rs17857145dbSNPEnsembl.1
Natural variantiVAR_048298210H → Q.Corresponds to variant rs28374506dbSNPEnsembl.1
Natural variantiVAR_048299321K → R.Corresponds to variant rs17857159dbSNPEnsembl.1
Natural variantiVAR_026213432E → Q.2 PublicationsCorresponds to variant rs4465020dbSNPEnsembl.1
Natural variantiVAR_016697464S → A.1 PublicationCorresponds to variant rs912174dbSNPEnsembl.1
Natural variantiVAR_048300664A → V.Corresponds to variant rs3824421dbSNPEnsembl.1
Natural variantiVAR_048301667R → H.Corresponds to variant rs3824420dbSNPEnsembl.1
Natural variantiVAR_048302901N → S.Corresponds to variant rs12352313dbSNPEnsembl.1
Natural variantiVAR_0483031055I → T.Corresponds to variant rs34832656dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0439581 – 158Missing in isoform 2. CuratedAdd BLAST158

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D79994 mRNA. Translation: BAA11489.2. Different initiation.
AL136979 Genomic DNA. Translation: CAH70388.1.
AL136979 Genomic DNA. Translation: CAM13084.1.
CH471071 Genomic DNA. Translation: EAW58821.1.
CH471071 Genomic DNA. Translation: EAW58822.1.
BC037495 mRNA. Translation: AAH37495.1.
CCDSiCCDS34976.1. [Q14678-1]
CCDS6441.1. [Q14678-2]
RefSeqiNP_001243805.1. NM_001256876.1. [Q14678-1]
NP_001243806.1. NM_001256877.1. [Q14678-1]
NP_055973.2. NM_015158.3. [Q14678-1]
XP_016870003.1. XM_017014514.1. [Q14678-1]
XP_016870004.1. XM_017014515.1. [Q14678-1]
XP_016870016.1. XM_017014527.1. [Q14678-2]
XP_016870017.1. XM_017014528.1. [Q14678-2]
XP_016870018.1. XM_017014529.1. [Q14678-2]
XP_016870019.1. XM_017014530.1. [Q14678-2]
UniGeneiHs.306764.

Genome annotation databases

EnsembliENST00000382293; ENSP00000371730; ENSG00000107104. [Q14678-2]
ENST00000382297; ENSP00000371734; ENSG00000107104. [Q14678-1]
ENST00000382303; ENSP00000371740; ENSG00000107104. [Q14678-1]
ENST00000619269; ENSP00000477725; ENSG00000107104. [Q14678-1]
GeneIDi23189.
KEGGihsa:23189.
UCSCiuc003zgl.3. human. [Q14678-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D79994 mRNA. Translation: BAA11489.2. Different initiation.
AL136979 Genomic DNA. Translation: CAH70388.1.
AL136979 Genomic DNA. Translation: CAM13084.1.
CH471071 Genomic DNA. Translation: EAW58821.1.
CH471071 Genomic DNA. Translation: EAW58822.1.
BC037495 mRNA. Translation: AAH37495.1.
CCDSiCCDS34976.1. [Q14678-1]
CCDS6441.1. [Q14678-2]
RefSeqiNP_001243805.1. NM_001256876.1. [Q14678-1]
NP_001243806.1. NM_001256877.1. [Q14678-1]
NP_055973.2. NM_015158.3. [Q14678-1]
XP_016870003.1. XM_017014514.1. [Q14678-1]
XP_016870004.1. XM_017014515.1. [Q14678-1]
XP_016870016.1. XM_017014527.1. [Q14678-2]
XP_016870017.1. XM_017014528.1. [Q14678-2]
XP_016870018.1. XM_017014529.1. [Q14678-2]
XP_016870019.1. XM_017014530.1. [Q14678-2]
UniGeneiHs.306764.

3D structure databases

ProteinModelPortaliQ14678.
SMRiQ14678.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116798. 12 interactors.
DIPiDIP-56491N.
IntActiQ14678. 15 interactors.
MINTiMINT-7997401.
STRINGi9606.ENSP00000371734.

PTM databases

iPTMnetiQ14678.
PhosphoSitePlusiQ14678.
SwissPalmiQ14678.

Polymorphism and mutation databases

BioMutaiKANK1.
DMDMi73920184.

Proteomic databases

EPDiQ14678.
MaxQBiQ14678.
PaxDbiQ14678.
PeptideAtlasiQ14678.
PRIDEiQ14678.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382293; ENSP00000371730; ENSG00000107104. [Q14678-2]
ENST00000382297; ENSP00000371734; ENSG00000107104. [Q14678-1]
ENST00000382303; ENSP00000371740; ENSG00000107104. [Q14678-1]
ENST00000619269; ENSP00000477725; ENSG00000107104. [Q14678-1]
GeneIDi23189.
KEGGihsa:23189.
UCSCiuc003zgl.3. human. [Q14678-1]

Organism-specific databases

CTDi23189.
DisGeNETi23189.
GeneCardsiKANK1.
HGNCiHGNC:19309. KANK1.
HPAiHPA005539.
HPA056090.
MalaCardsiKANK1.
MIMi607704. gene.
612900. phenotype.
neXtProtiNX_Q14678.
OpenTargetsiENSG00000107104.
Orphaneti210141. Inherited congenital spastic tetraplegia.
PharmGKBiPA162392554.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0514. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00530000063448.
HOGENOMiHOG000230897.
HOVERGENiHBG050511.
InParanoidiQ14678.
OMAiMTGLDHY.
OrthoDBiEOG091G0D3F.
PhylomeDBiQ14678.
TreeFamiTF324499.

Miscellaneous databases

ChiTaRSiKANK1. human.
GeneWikiiANKRD15.
GenomeRNAii23189.
PROiQ14678.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107104.
CleanExiHS_KANK1.
ExpressionAtlasiQ14678. baseline and differential.
GenevisibleiQ14678. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR021939. KN_motif.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
PF12075. KN_motif. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKANK1_HUMAN
AccessioniPrimary (citable) accession number: Q14678
Secondary accession number(s): A2A2W8
, D3DRH3, Q5W0W0, Q8IY65, Q8WX74
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: August 30, 2005
Last modified: November 2, 2016
This is version 142 of the entry and version 3 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 9
    Human chromosome 9: 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.