ID KANK4_HUMAN Reviewed; 995 AA.
AC Q5T7N3; B1ALP7; Q6P9A0; Q86T71; Q86VE6; Q8NAX3;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 24-JAN-2024, entry version 141.
DE RecName: Full=KN motif and ankyrin repeat domain-containing protein 4;
DE AltName: Full=Ankyrin repeat domain-containing protein 38;
GN Name=KANK4; Synonyms=ANKRD38;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS ARG-822;
RP ALA-840 AND LEU-935.
RC TISSUE=Kidney;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ARG-822;
RP ALA-840 AND LEU-935.
RC TISSUE=Placenta;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 292-995, AND VARIANTS ARG-822;
RP ALA-840 AND LEU-935.
RC TISSUE=Spinal cord;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP POSSIBLE FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=17996375; DOI=10.1016/j.bbagen.2007.09.017;
RA Zhu Y., Kakinuma N., Wang Y., Kiyama R.;
RT "Kank proteins: a new family of ankyrin-repeat domain-containing
RT proteins.";
RL Biochim. Biophys. Acta 1780:128-133(2008).
RN [6]
RP SUBCELLULAR LOCATION, VARIANT HIS-801, AND CHARACTERIZATION OF VARIANT
RP HIS-801.
RX PubMed=25961457; DOI=10.1172/jci79504;
RA Gee H.Y., Zhang F., Ashraf S., Kohl S., Sadowski C.E., Vega-Warner V.,
RA Zhou W., Lovric S., Fang H., Nettleton M., Zhu J.Y., Hoefele J.,
RA Weber L.T., Podracka L., Boor A., Fehrenbach H., Innis J.W., Washburn J.,
RA Levy S., Lifton R.P., Otto E.A., Han Z., Hildebrandt F.;
RT "KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.";
RL J. Clin. Invest. 125:2375-2384(2015).
CC -!- FUNCTION: May be involved in the control of cytoskeleton formation by
CC regulating actin polymerization. {ECO:0000269|PubMed:17996375}.
CC -!- INTERACTION:
CC Q5T7N3; P41240: CSK; NbExp=3; IntAct=EBI-9355810, EBI-1380630;
CC Q5T7N3; Q93034: CUL5; NbExp=3; IntAct=EBI-9355810, EBI-1057139;
CC Q5T7N3; O14929: HAT1; NbExp=3; IntAct=EBI-9355810, EBI-2339359;
CC Q5T7N3; Q9NSC5: HOMER3; NbExp=3; IntAct=EBI-9355810, EBI-748420;
CC Q5T7N3; Q8WY64: MYLIP; NbExp=3; IntAct=EBI-9355810, EBI-6952711;
CC Q5T7N3; O75865-2: TRAPPC6A; NbExp=3; IntAct=EBI-9355810, EBI-8451480;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17996375,
CC ECO:0000269|PubMed:25961457}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5T7N3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T7N3-2; Sequence=VSP_019552, VSP_019553;
CC -!- TISSUE SPECIFICITY: Strongly expressed in colon, liver, lung, skeletal
CC muscle and kidney. {ECO:0000269|PubMed:17996375}.
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DR EMBL; AK091941; BAC03774.1; -; mRNA.
DR EMBL; AL139343; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL162739; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC041418; AAH41418.1; -; mRNA.
DR EMBL; BC060866; AAH60866.1; -; mRNA.
DR EMBL; AL832644; CAD89966.1; -; mRNA.
DR CCDS; CCDS620.1; -. [Q5T7N3-1]
DR CCDS; CCDS81334.1; -. [Q5T7N3-2]
DR RefSeq; NP_001307198.1; NM_001320269.1. [Q5T7N3-2]
DR RefSeq; NP_859063.3; NM_181712.4. [Q5T7N3-1]
DR RefSeq; XP_011539145.1; XM_011540843.2.
DR RefSeq; XP_016855973.1; XM_017000484.1. [Q5T7N3-2]
DR AlphaFoldDB; Q5T7N3; -.
DR SMR; Q5T7N3; -.
DR BioGRID; 127879; 22.
DR IntAct; Q5T7N3; 19.
DR STRING; 9606.ENSP00000360195; -.
DR GlyGen; Q5T7N3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q5T7N3; -.
DR PhosphoSitePlus; Q5T7N3; -.
DR BioMuta; KANK4; -.
DR DMDM; 74745407; -.
DR EPD; Q5T7N3; -.
DR jPOST; Q5T7N3; -.
DR MassIVE; Q5T7N3; -.
DR MaxQB; Q5T7N3; -.
DR PaxDb; 9606-ENSP00000360195; -.
DR PeptideAtlas; Q5T7N3; -.
DR ProteomicsDB; 64669; -. [Q5T7N3-1]
DR ProteomicsDB; 64670; -. [Q5T7N3-2]
DR Pumba; Q5T7N3; -.
DR Antibodypedia; 2864; 42 antibodies from 14 providers.
DR DNASU; 163782; -.
DR Ensembl; ENST00000354381.3; ENSP00000346352.3; ENSG00000132854.19. [Q5T7N3-2]
DR Ensembl; ENST00000371153.9; ENSP00000360195.4; ENSG00000132854.19. [Q5T7N3-1]
DR GeneID; 163782; -.
DR KEGG; hsa:163782; -.
DR MANE-Select; ENST00000371153.9; ENSP00000360195.4; NM_181712.5; NP_859063.3.
DR UCSC; uc001dah.5; human. [Q5T7N3-1]
DR AGR; HGNC:27263; -.
DR CTD; 163782; -.
DR DisGeNET; 163782; -.
DR GeneCards; KANK4; -.
DR HGNC; HGNC:27263; KANK4.
DR HPA; ENSG00000132854; Tissue enhanced (adipose tissue, brain, pancreas, placenta).
DR MIM; 614612; gene.
DR neXtProt; NX_Q5T7N3; -.
DR OpenTargets; ENSG00000132854; -.
DR PharmGKB; PA162392639; -.
DR VEuPathDB; HostDB:ENSG00000132854; -.
DR eggNOG; KOG0514; Eukaryota.
DR GeneTree; ENSGT00940000158468; -.
DR HOGENOM; CLU_004269_0_0_1; -.
DR InParanoid; Q5T7N3; -.
DR OMA; QSCQGDE; -.
DR OrthoDB; 123304at2759; -.
DR PhylomeDB; Q5T7N3; -.
DR TreeFam; TF324499; -.
DR PathwayCommons; Q5T7N3; -.
DR SignaLink; Q5T7N3; -.
DR BioGRID-ORCS; 163782; 11 hits in 1138 CRISPR screens.
DR ChiTaRS; KANK4; human.
DR GenomeRNAi; 163782; -.
DR Pharos; Q5T7N3; Tdark.
DR PRO; PR:Q5T7N3; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T7N3; Protein.
DR Bgee; ENSG00000132854; Expressed in trigeminal ganglion and 152 other cell types or tissues.
DR ExpressionAtlas; Q5T7N3; baseline and differential.
DR Genevisible; Q5T7N3; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0015630; C:microtubule cytoskeleton; IDA:HPA.
DR GO; GO:0030837; P:negative regulation of actin filament polymerization; IBA:GO_Central.
DR Gene3D; 1.25.40.20; Ankyrin repeat-containing domain; 1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR047184; KANK1-4.
DR InterPro; IPR021939; KN_motif.
DR PANTHER; PTHR24168; KN MOTIF AND ANKYRIN REPEAT DOMAIN-CONTAINING; 1.
DR PANTHER; PTHR24168:SF24; KN MOTIF AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 4; 1.
DR Pfam; PF12796; Ank_2; 2.
DR Pfam; PF12075; KN_motif; 1.
DR SMART; SM00248; ANK; 4.
DR SUPFAM; SSF48403; Ankyrin repeat; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; ANK repeat; Coiled coil; Cytoplasm;
KW Reference proteome; Repeat.
FT CHAIN 1..995
FT /note="KN motif and ankyrin repeat domain-containing
FT protein 4"
FT /id="PRO_0000244364"
FT REPEAT 823..853
FT /note="ANK 1"
FT REPEAT 862..890
FT /note="ANK 2"
FT REPEAT 895..924
FT /note="ANK 3"
FT REPEAT 928..958
FT /note="ANK 4"
FT REPEAT 962..992
FT /note="ANK 5"
FT REGION 1..29
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 68..127
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 443..467
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 503..558
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 617..642
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 663..705
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 721..740
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 343..404
FT /evidence="ECO:0000255"
FT COMPBIAS 1..23
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 96..126
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 663..681
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 691..705
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..628
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019552"
FT VAR_SEQ 629..633
FT /note="SSPPV -> MEKTD (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019553"
FT VARIANT 701
FT /note="G -> S (in dbSNP:rs17123306)"
FT /id="VAR_048306"
FT VARIANT 768
FT /note="T -> A (in dbSNP:rs11207949)"
FT /id="VAR_048307"
FT VARIANT 801
FT /note="Y -> H (found in a patient with nephrotic syndrome;
FT uncertain significance; no effect on protein localization;
FT dbSNP:rs145623004)"
FT /evidence="ECO:0000269|PubMed:25961457"
FT /id="VAR_080961"
FT VARIANT 822
FT /note="H -> R (in dbSNP:rs2258470)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_026902"
FT VARIANT 840
FT /note="V -> A (in dbSNP:rs2666472)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_026903"
FT VARIANT 935
FT /note="V -> L (in dbSNP:rs2941679)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_026904"
FT VARIANT 987
FT /note="A -> V (in dbSNP:rs34591898)"
FT /id="VAR_048308"
FT CONFLICT 297
FT /note="E -> G (in Ref. 4; CAD89966)"
FT /evidence="ECO:0000305"
FT CONFLICT 786
FT /note="R -> H (in Ref. 1; BAC03774)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 995 AA; 107342 MW; 25379EB22B44C760 CRC64;
MEKTDAKDQS SQGDEEKDPP KSHPYSVETP YGFHLDLDFL KYVDDIEKGN TIKRIPIHRR
AKQAKFSTLP RNFSLPDSGA RPPAAPPLQN WSPVVPREAS LGTQEQNQSP PLGNAPQAST
SRSEVSYHRK ALLAEATRQL EAAEPEDAEL TFGSGRPQLL RASSMPATLL HSRASEEPGL
SLGPPAPPAL PPLQGEGSVC DGTFEPAEGL AGFHSSSPRA STRIPELVQE GAEPPEGVVK
VPNHLPLPGP PFSFQNVLVV LEDKEDEHNA REAEVLFTPG SPTPSPPPLP SPIPENELLL
EEIELNISEI PPPPPVEVDM RSIGIRVTEE SLGLARVDPG SISSLKQQVS ALEGELSGRT
EELAQVRTAL QQQEEEIKAR EQRIRELEFT VAQLEGQFHQ ENAKDTQGQT DVMVNTDPVH
GLLTRESCDK GIEVNLLGSM ESESWGHRGE ENGLLWGPDG HKQGNQSPAE RVLLPQLSLP
QGPEQVLTSS VHSFLSTELR IEEAGTEQEG GPQGGTRGAG GFLWGSDRKT PPAGREETSS
NLPGKEHPGR PPSSPTDATI GQYVKKIQEL LQEQWNCLEH GYPELASAIK QPASKLSSIQ
SQLLSSLNLL LSAYSAQAHP PKEPPASSSS PPVEISPSTS LKSIMKKKDY GFRAGGNGTK
KNLQFVGVNG GYETTSSEET SGEDSTPEDL SDSEAEKKCD GPDHKHVKDA HLTCEAGQGI
PEGTCHAAQE SGPGEEVPHS KAERYKPSEE FLNACRALSQ HLPETGTTTD QLLRQSLNTI
SQEWFRVSSR KSSSPAVVAS YLHEVQPHSP HFLKLLVNLA DHNGNTALHY SVSHSNFSIV
KLLLETGVCN VDHQNKAGYT AVMITPLASA ETNEDMAVVW KLLREGNVNI QATQGGQTAL
MLGVSHDRED MVQALLSCQA DVNLQDHDGS SALMVACHHG NVDLVRLLLA HPACDSSLTD
KAGRTALSIA LKSPTHMEIA GLLRAHAEQG RSLGL
//
