ID   KANK1_HUMAN             Reviewed;        1352 AA.
AC   Q14678; D3DRH3; Q5W0W0; Q8IY65; Q8WX74;
DT   29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT   30-AUG-2005, sequence version 3.
DT   08-MAR-2011, entry version 93.
DE   RecName: Full=KN motif and ankyrin repeat domain-containing protein 1;
DE   AltName: Full=Ankyrin repeat domain-containing protein 15;
DE   AltName: Full=Kidney ankyrin repeat-containing protein;
GN   Name=KANK1; Synonyms=ANKRD15, KANK, KIAA0172;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-464.
RC   TISSUE=Bone marrow;
RX   MEDLINE=96281124; PubMed=8724849; DOI=10.1093/dnares/3.1.17;
RA   Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.;
RT   "Prediction of the coding sequences of unidentified human genes. V.
RT   The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by
RT   analysis of cDNA clones from human cell line KG-1.";
RL   DNA Res. 3:17-24(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
RA   Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
RA   Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
RA   Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
RA   Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
RA   Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
RA   Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
RA   Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
RA   Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
RA   Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
RA   Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
RA   Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
RA   McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
RA   Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
RA   Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
RA   Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
RA   Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
RA   Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
RA   Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
RA   Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
RA   Rogers J., Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLN-432.
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS LYS-206 AND
RP   GLN-432.
RC   TISSUE=Testis;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   PUTATIVE FUNCTION, AND SUBCELLULAR LOCATION.
RX   MEDLINE=22229386; PubMed=12133830; DOI=10.1074/jbc.M204244200;
RA   Sarkar S., Roy B.C., Hatano N., Aoyagi T., Gohji K., Kiyama R.;
RT   "A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a
RT   growth suppressor of renal cell carcinoma.";
RL   J. Biol. Chem. 277:36585-36591(2002).
RN   [6]
RP   INVOLVEMENT IN CPSQ2.
RX   PubMed=16301218; DOI=10.1093/hmg/ddi415;
RA   Lerer I., Sagi M., Meiner V., Cohen T., Zlotogora J., Abeliovich D.;
RT   "Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-
RT   dependent inheritance of familial cerebral palsy.";
RL   Hum. Mol. Genet. 14:3911-3920(2005).
RN   [7]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-325, AND MASS
RP   SPECTROMETRY.
RC   TISSUE=Leukemic T-cell;
RX   PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA   Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA   Rodionov V., Han D.K.;
RT   "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT   reveals system-wide modulation of protein-protein interactions.";
RL   Sci. Signal. 2:RA46-RA46(2009).
CC   -!- FUNCTION: Potential tumor suppressor for renal cell carcinoma.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm.
CC   -!- DISEASE: Defects in KANK1 are the cause of cerebral palsy spastic
CC       quadriplegic type 2 (CPSQ2) [MIM:612900]. A non-progressive
CC       disorder of movement and/or posture resulting from defects in the
CC       developing central nervous system. Affected individuals manifest
CC       congenital hypotonia evolving over the first year to spastic
CC       quadriplegia with accompanying transient nystagmus and varying
CC       degrees of mental retardation. Neuroimaging shows brain atrophy
CC       and ventriculomegaly.
CC   -!- SIMILARITY: Contains 5 ANK repeats.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAA11489.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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DR   EMBL; D79994; BAA11489.2; ALT_INIT; mRNA.
DR   EMBL; AL136979; CAH70388.1; -; Genomic_DNA.
DR   EMBL; CH471071; EAW58821.1; -; Genomic_DNA.
DR   EMBL; CH471071; EAW58822.1; -; Genomic_DNA.
DR   EMBL; BC037495; AAH37495.1; -; mRNA.
DR   IPI; IPI00339320; -.
DR   RefSeq; NP_055973.2; NM_015158.2.
DR   UniGene; Hs.306764; -.
DR   ProteinModelPortal; Q14678; -.
DR   SMR; Q14678; 1161-1324.
DR   STRING; Q14678; -.
DR   PhosphoSite; Q14678; -.
DR   PRIDE; Q14678; -.
DR   Ensembl; ENST00000382297; ENSP00000371734; ENSG00000107104.
DR   Ensembl; ENST00000382303; ENSP00000371740; ENSG00000107104.
DR   GeneID; 23189; -.
DR   KEGG; hsa:23189; -.
DR   UCSC; uc003zgl.1; human.
DR   CTD; 23189; -.
DR   GeneCards; GC09P000461; -.
DR   HGNC; HGNC:19309; KANK1.
DR   HPA; HPA005539; -.
DR   MIM; 607704; gene.
DR   MIM; 612900; phenotype.
DR   neXtProt; NX_Q14678; -.
DR   Orphanet; 91498; Familial congenital palsy of trochlear nerve.
DR   HOGENOM; HBG446458; -.
DR   HOVERGEN; HBG050511; -.
DR   InParanoid; Q14678; -.
DR   OMA; ESVEQST; -.
DR   OrthoDB; EOG49P9ZW; -.
DR   NextBio; 44663; -.
DR   ArrayExpress; Q14678; -.
DR   Bgee; Q14678; -.
DR   CleanEx; HS_KANK1; -.
DR   Genevestigator; Q14678; -.
DR   GermOnline; ENSG00000107104; Homo sapiens.
DR   GO; GO:0005737; C:cytoplasm; IDA:HPA.
DR   GO; GO:0030837; P:negative regulation of actin filament polymerization; IDA:MGI.
DR   InterPro; IPR002110; Ankyrin_rpt.
DR   InterPro; IPR020683; Ankyrin_rpt-contain_dom.
DR   InterPro; IPR021939; KN_motif.
DR   Gene3D; G3DSA:1.25.40.20; ANK; 1.
DR   Pfam; PF00023; Ank; 3.
DR   Pfam; PF12075; KN_motif; 1.
DR   SMART; SM00248; ANK; 6.
DR   SUPFAM; SSF48403; ANK; 1.
DR   PROSITE; PS50297; ANK_REP_REGION; 1.
DR   PROSITE; PS50088; ANK_REPEAT; 3.
PE   1: Evidence at protein level;
KW   ANK repeat; Coiled coil; Complete proteome; Cytoplasm; Phosphoprotein;
KW   Polymorphism; Repeat; Tumor suppressor.
FT   CHAIN         1   1352       KN motif and ankyrin repeat domain-
FT                                containing protein 1.
FT                                /FTId=PRO_0000066911.
FT   REPEAT     1161   1191       ANK 1.
FT   REPEAT     1195   1228       ANK 2.
FT   REPEAT     1233   1262       ANK 3.
FT   REPEAT     1266   1298       ANK 4.
FT   REPEAT     1300   1329       ANK 5.
FT   COILED      258    316       Potential.
FT   COILED      361    395       Potential.
FT   COILED      446    500       Potential.
FT   MOD_RES     325    325       Phosphoserine.
FT   VARIANT     206    206       N -> K (in dbSNP:rs17857145).
FT                                /FTId=VAR_026212.
FT   VARIANT     210    210       H -> Q (in dbSNP:rs28374506).
FT                                /FTId=VAR_048298.
FT   VARIANT     321    321       K -> R (in dbSNP:rs17857159).
FT                                /FTId=VAR_048299.
FT   VARIANT     432    432       E -> Q (in dbSNP:rs4465020).
FT                                /FTId=VAR_026213.
FT   VARIANT     464    464       S -> A (in dbSNP:rs912174).
FT                                /FTId=VAR_016697.
FT   VARIANT     664    664       A -> V (in dbSNP:rs3824421).
FT                                /FTId=VAR_048300.
FT   VARIANT     667    667       R -> H (in dbSNP:rs3824420).
FT                                /FTId=VAR_048301.
FT   VARIANT     901    901       N -> S (in dbSNP:rs12352313).
FT                                /FTId=VAR_048302.
FT   VARIANT    1055   1055       I -> T (in dbSNP:rs34832656).
FT                                /FTId=VAR_048303.
SQ   SEQUENCE   1352 AA;  147289 MW;  0C3993143391363B CRC64;
     MAHTTKVNGS ASGKAGDILS GDQDKEQKDP YFVETPYGYQ LDLDFLKYVD DIQKGNTIKR
     LNIQKRRKPS VPCPEPRTTS GQQGIWTSTE SLSSSNSDDN KQCPNFLIAR SQVTSTPISK
     PPPPLETSLP FLTIPENRQL PPPSPQLPKH NLHVTKTLME TRRRLEQERA TMQMTPGEFR
     RPRLASFGGM GTTSSLPSFV GSGNHNPAKH QLQNGYQGNG DYGSYAPAAP TTSSMGSSIR
     HSPLSSGIST PVTNVSPMHL QHIREQMAIA LKRLKELEEQ VRTIPVLQVK ISVLQEEKRQ
     LVSQLKNQRA ASQINVCGVR KRSYSAGNAS QLEQLSRARR SGGELYIDYE EEEMETVEQS
     TQRIKEFRQL TADMQALEQK IQDSSCEASS ELRENGECRS VAVGAEENMN DIVVYHRGSR
     SCKDAAVGTL VEMRNCGVSV TEAMLGVMTE ADKEIELQQQ TIESLKEKIY RLEVQLRETT
     HDREMTKLKQ ELQAAGSRKK VDKATMAQPL VFSKVVEAVV QTRDQMVGSH MDLVDTCVGT
     SVETNSVGIS CQPECKNKVV GPELPMNWWI VKERVEMHDR CAGRSVEMCD KSVSVEVSVC
     ETGSNTEESV NDLTLLKTNL NLKEVRSIGC GDCSVDVTVC SPKECASRGV NTEAVSQVEA
     AVMAVPRTAD QDTSTDLEQV HQFTNTETAT LIESCTNTCL STLDKQTSTQ TVETRTVAVG
     EGRVKDINSS TKTRSIGVGT LLSGHSGFDR PSAVKTKESG VGQININDNY LVGLKMRTIA
     CGPPQLTVGL TASRRSVGVG DDPVGESLEN PQPQAPLGMM TGLDHYIERI QKLLAEQQTL
     LAENYSELAE AFGEPHSQMG SLNSQLISTL SSINSVMKSA STEELRNPDF QKTSLGKITG
     NYLGYTCKCG GLQSGSPLSS QTSQPEQEVG TSEGKPISSL DAFPTQEGTL SPVNLTDDQI
     AAGLYACTNN ESTLKSIMKK KDGNKDSNGA KKNLQFVGIN GGYETTSSDD SSSDESSSSE
     SDDECDVIEY PLEEEEEEED EDTRGMAEGH HAVNIEGLKS ARVEDEMQVQ ECEPEKVEIR
     ERYELSEKML SACNLLKNTI NDPKALTSKD MRFCLNTLQH EWFRVSSQKS AIPAMVGDYI
     AAFEAISPDV LRYVINLADG NGNTALHYSV SHSNFEIVKL LLDADVCNVD HQNKAGYTPI
     MLAALAAVEA EKDMRIVEEL FGCGDVNAKA SQAGQTALML AVSHGRIDMV KGLLACGADV
     NIQDDEGSTA LMCASEHGHV EIVKLLLAQP GCNGHLEDND GSTALSIALE AGHKDIAVLL
     YAHVNFAKAQ SPGTPRLGRK TSPGPTHRGS FD
//