Skip Header

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

UniProtKB - Q63ZY3 (KANK2_HUMAN)

(max 400 entries)x

Your basket is currently empty. i

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

KN motif and ankyrin repeat domain-containing protein 2

Gene

KANK2

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

Functioni

Involved in transcription regulation by sequestering nuclear receptor coactivators, such as NCOA1, NCOA2 and NCOA3, in the cytoplasm; the function is deregulated by phosphorylation. Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). May be involved in the control of cytoskeleton formation by regulating actin polymerization. Involved in regulation of caspase-independent apoptosis; proposed to sequester AIFM1 in mitochondria and apoptotic stimuli lead to its proteasomal degradation allowing the release of AIFM1 to the nucleus (PubMed:22371500). May be involved in promotion of cell proliferation (By similarity).By similarity3 Publications

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • negative regulation of cell proliferation Source: UniProtKB
  • negative regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
  • negative regulation of intracellular estrogen receptor signaling pathway Source: UniProtKB
  • negative regulation of programmed cell death Source: UniProtKB
  • negative regulation of transcription by RNA polymerase II Source: UniProtKB
  • negative regulation of vitamin D receptor signaling pathway Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processApoptosis, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
KN motif and ankyrin repeat domain-containing protein 2
Alternative name(s):
Ankyrin repeat domain-containing protein 25
Matrix-remodeling-associated protein 3
SRC-1-interacting protein
Short name:
SIP
Short name:
SRC-interacting protein
Short name:
SRC1-interacting protein
Gene namesi
Name:KANK2
Synonyms:ANKRD25, KIAA1518, MXRA3, SIP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000197256.10
HGNCiHGNC:29300 KANK2
MIMi614610 gene
neXtProtiNX_Q63ZY3

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, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Palmoplantar keratoderma and woolly hair (PPKWH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by abnormal thickening of the skin on the palms and soles, in association with woolly scalp hair. Affected individuals manifest a variable degree of striate palmoplantar keratoderma, generally more severe on the soles. Leukonychia is more pronounced on the fingernails than toenails. Scalp hair, body hair, eyebrows, and eyelashes are sparse. The fifth toes show variable degrees of pseudoainhum, ranging from external rotation to a deep sulcus at the digitoplantar fold, accompanied by a bulbous appearance of the distal toe.
See also OMIM:616099
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072431670A → V in PPKWH. 1 PublicationCorresponds to variant dbSNP:rs606231303EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi510 – 512SSS → AAA: Impairs phosphorylation; when associated with A-515. 1 Publication3
Mutagenesisi515S → A: Impairs phosphorylation; when associated with 510-A--A-512. 1 Publication1

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi25959
MalaCardsiKANK2
MIMi616099 phenotype
OpenTargetsiENSG00000197256
PharmGKBiPA162392581

Polymorphism and mutation databases

BioMutaiKANK2
DMDMi74757262

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002408401 – 851KN motif and ankyrin repeat domain-containing protein 2Add BLAST851

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei19PhosphoserineCombined sources1
Modified residuei83PhosphoserineBy similarity1
Modified residuei86PhosphoserineBy similarity1
Modified residuei89PhosphoserineBy similarity1
Modified residuei92PhosphoserineCombined sources1
Modified residuei105Omega-N-methylarginineCombined sources1
Modified residuei168PhosphothreonineBy similarity1
Modified residuei323PhosphoserineCombined sources1
Modified residuei329PhosphothreonineCombined sources1
Modified residuei356PhosphoserineCombined sources1
Modified residuei375PhosphoserineCombined sources1
Modified residuei472PhosphothreonineCombined sources1
Modified residuei540PhosphoserineCombined sources1
Modified residuei552PhosphothreonineCombined sources1

Post-translational modificationi

Phosphorylated by CaMK2 upon estrogen stimulation.1 Publication

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ63ZY3
MaxQBiQ63ZY3
PaxDbiQ63ZY3
PeptideAtlasiQ63ZY3
PRIDEiQ63ZY3
ProteomicsDBi65901
65902 [Q63ZY3-2]
65903 [Q63ZY3-3]

PTM databases

iPTMnetiQ63ZY3
PhosphoSitePlusiQ63ZY3

Expressioni

Tissue specificityi

Strongly expressed in cervix, colon, heart, kidney and lung. Expressed in kidney glomerular podocytes and mesangial cells (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000197256
CleanExiHS_KANK2
ExpressionAtlasiQ63ZY3 baseline and differential
GenevisibleiQ63ZY3 HS

Organism-specific databases

HPAiHPA015643

Interactioni

Subunit structurei

Interacts (phosphorylated) with NCOA1; NCOA2 AND NCOA3. Interacts with AIFM1.2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117449, 62 interactors
ELMiQ63ZY3
IntActiQ63ZY3, 218 interactors
MINTiQ63ZY3
STRINGi9606.ENSP00000395650

Structurei

Secondary structure

1851
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi592 – 606Combined sources15
Helixi608 – 610Combined sources3
Helixi613 – 632Combined sources20
Helixi638 – 651Combined sources14
Helixi653 – 660Combined sources8
Helixi670 – 676Combined sources7
Helixi680 – 688Combined sources9
Helixi704 – 707Combined sources4
Helixi708 – 710Combined sources3
Helixi716 – 728Combined sources13
Turni736 – 738Combined sources3
Helixi742 – 748Combined sources7
Helixi752 – 760Combined sources9
Helixi775 – 782Combined sources8
Helixi785 – 792Combined sources8
Helixi809 – 816Combined sources8
Helixi819 – 828Combined sources10

3D structure databases

ProteinModelPortaliQ63ZY3
SMRiQ63ZY3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati666 – 696ANK 1Add BLAST31
Repeati700 – 733ANK 2Add BLAST34
Repeati738 – 767ANK 3Add BLAST30
Repeati771 – 801ANK 4Add BLAST31
Repeati805 – 835ANK 5Add BLAST31

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 72Interaction with AIFM11 PublicationAdd BLAST72
Regioni669 – 835Interaction with NCOA11 PublicationAdd BLAST167

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili183 – 234Sequence analysisAdd BLAST52
Coiled coili282 – 312Sequence analysisAdd BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi425 – 428Poly-Ser4

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0514 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00530000063448
HOVERGENiHBG062256
InParanoidiQ63ZY3
OMAiLHVPAPF
OrthoDBiEOG091G0D3F
PhylomeDBiQ63ZY3
TreeFamiTF324499

Family and domain databases

CDDicd00204 ANK, 2 hits
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR021939 KN_motif
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF12075 KN_motif, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 5 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 2 hits

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q63ZY3-1) [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
MAQVLHVPAP FPGTPGPASP PAFPAKDPDP PYSVETPYGY RLDLDFLKYV 
        60         70         80         90        100
DDIEKGHTLR RVAVQRRPRL SSLPRGPGSW WTSTESLCSN ASGDSRHSAY 
       110        120        130        140        150
SYCGRGFYPQ YGALETRGGF NPRVERTLLD ARRRLEDQAA TPTGLGSLTP 
       160        170        180        190        200
SAAGSTASLV GVGLPPPTPR SSGLSTPVPP SAGHLAHVRE QMAGALRKLR 
       210        220        230        240        250
QLEEQVKLIP VLQVKLSVLQ EEKRQLTVQL KSQKFLGHPT AGRGRSELCL 
       260        270        280        290        300
DLPDPPEDPV ALETRSVGTW VRERDLGMPD GEAALAAKVA VLETQLKKAL 
       310        320        330        340        350
QELQAAQARQ ADPQPQAWPP PDSPVRVDTV RVVEGPREVE VVASTAAGAP 
       360        370        380        390        400
AQRAQSLEPY GTGLRALAMP GRPESPPVFR SQEVVETMCP VPAAATSNVH 
       410        420        430        440        450
MVKKISITER SCDGAAGLPE VPAESSSSPP GSEVASLTQP EKSTGRVPTQ 
       460        470        480        490        500
EPTHREPTRQ AASQESEEAG GTGGPPAGVR SIMKRKEEVA DPTAHRRSLQ 
       510        520        530        540        550
FVGVNGGYES SSEDSSTAEN ISDNDSTENE APEPRERVPS VAEAPQLRPA 
       560        570        580        590        600
GTAAAKTSRQ ECQLSRESQH IPTAEGASGS NTEEEIRMEL SPDLISACLA 
       610        620        630        640        650
LEKYLDNPNA LTERELKVAY TTVLQEWLRL ACRSDAHPEL VRRHLVTFRA 
       660        670        680        690        700
MSARLLDYVV NIADSNGNTA LHYSVSHANF PVVQQLLDSG VCKVDKQNRA 
       710        720        730        740        750
GYSPIMLTAL ATLKTQDDIE TVLQLFRLGN INAKASQAGQ TALMLAVSHG 
       760        770        780        790        800
RVDVVKALLA CEADVNVQDD DGSTALMCAC EHGHKEIAGL LLAVPSCDIS 
       810        820        830        840        850
LTDRDGSTAL MVALDAGQSE IASMLYSRMN IKCSFAPMSD DESPTSSSAE 

E
Length:851
Mass (Da):91,174
Last modified:October 25, 2004 - v1
Checksum:iC14CD8B937A7B6E8
GO
Isoform 2 (identifier: Q63ZY3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     472-472: T → TAPPLSSPP

Note: No experimental confirmation available.
Show »
Length:859
Mass (Da):91,921
Checksum:i0629BE4E0E29FCEE
GO
Isoform 3 (identifier: Q63ZY3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     835-841: FAPMSDD → VSLNPAG
     842-851: Missing.

Note: No experimental confirmation available.
Show »
Length:841
Mass (Da):90,044
Checksum:iD82155CD26E514F1
GO

Sequence cautioni

The sequence BAA92081 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA96042 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14531 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti525D → N in BAA96042 (PubMed:10819331).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048304118G → S. Corresponds to variant dbSNP:rs755237Ensembl.1
Natural variantiVAR_048305401M → T. Corresponds to variant dbSNP:rs17616661Ensembl.1
Natural variantiVAR_072431670A → V in PPKWH. 1 PublicationCorresponds to variant dbSNP:rs606231303EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019427472T → TAPPLSSPP in isoform 2. 1 Publication1
Alternative sequenceiVSP_019428835 – 841FAPMSDD → VSLNPAG in isoform 3. 1 Publication7
Alternative sequenceiVSP_019429842 – 851Missing in isoform 3. 1 Publication10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY639929 mRNA Translation: AAT57879.1
AB284125 mRNA Translation: BAG06864.1
AB040951 mRNA Translation: BAA96042.2 Different initiation.
CH471106 Genomic DNA Translation: EAW84177.1
BC082762 mRNA Translation: AAH82762.1
BC098105 mRNA Translation: AAH98105.1
BC098286 mRNA Translation: AAH98286.1
BC098312 mRNA Translation: AAH98312.1
BC105989 mRNA Translation: AAI05990.1
AK002094 mRNA Translation: BAA92081.1 Different initiation.
AK023332 mRNA Translation: BAB14531.1 Different initiation.
CCDSiCCDS12255.1 [Q63ZY3-1]
CCDS54219.1 [Q63ZY3-2]
RefSeqiNP_001129663.1, NM_001136191.2 [Q63ZY3-1]
NP_001316380.1, NM_001329451.1 [Q63ZY3-1]
NP_056308.3, NM_015493.6 [Q63ZY3-2]
UniGeneiHs.284208
Hs.723365
Hs.744940

Genome annotation databases

EnsembliENST00000586659; ENSP00000465650; ENSG00000197256 [Q63ZY3-1]
ENST00000589359; ENSP00000468002; ENSG00000197256 [Q63ZY3-2]
ENST00000589894; ENSP00000467029; ENSG00000197256 [Q63ZY3-3]
GeneIDi25959
KEGGihsa:25959
UCSCiuc002mqo.5 human [Q63ZY3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKANK2_HUMAN
AccessioniPrimary (citable) accession number: Q63ZY3
Secondary accession number(s): B0I1P4
, Q3KQZ3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: October 25, 2004
Last modified: July 18, 2018
This is version 136 of the entry and version 1 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 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health