KATIP_HUMAN
ID KATIP_HUMAN Reviewed; 1618 AA.
AC O60303; A7E2C2;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 4.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Katanin-interacting protein;
GN Name=KATNIP {ECO:0000312|HGNC:HGNC:29068}; Synonyms=KIAA0556;
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], AND VARIANT THR-1267.
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-1267.
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 [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-691, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-453 AND SER-660, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP INVOLVEMENT IN JBTS26, FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH
RP IFT172; KATNA1; KATNAL1; KATNB1; KATNBL1 AND MICROTUBULES.
RX PubMed=26714646; DOI=10.1186/s13059-015-0858-z;
RA Sanders A.A., de Vrieze E., Alazami A.M., Alzahrani F., Malarkey E.B.,
RA Sorusch N., Tebbe L., Kuhns S., van Dam T.J., Alhashem A., Tabarki B.,
RA Lu Q., Lambacher N.J., Kennedy J.E., Bowie R.V., Hetterschijt L.,
RA van Beersum S., van Reeuwijk J., Boldt K., Kremer H., Kesterson R.A.,
RA Monies D., Abouelhoda M., Roepman R., Huynen M.H., Ueffing M.,
RA Russell R.B., Wolfrum U., Yoder B.K., van Wijk E., Alkuraya F.S.,
RA Blacque O.E.;
RT "KIAA0556 is a novel ciliary basal body component mutated in Joubert
RT syndrome.";
RL Genome Biol. 16:R293.1-R293.23(2015).
RN [8]
RP VARIANT JBTS26 558-ARG--CYS-1618 DEL.
RX PubMed=30237576; DOI=10.1038/s41436-018-0138-x;
RA Maddirevula S., Alzahrani F., Al-Owain M., Al Muhaizea M.A., Kayyali H.R.,
RA AlHashem A., Rahbeeni Z., Al-Otaibi M., Alzaidan H.I., Balobaid A.,
RA El Khashab H.Y., Bubshait D.K., Faden M., Yamani S.A., Dabbagh O.,
RA Al-Mureikhi M., Jasser A.A., Alsaif H.S., Alluhaydan I., Seidahmed M.Z.,
RA Alabbasi B.H., Almogarri I., Kurdi W., Akleh H., Qari A., Al Tala S.M.,
RA Alhomaidi S., Kentab A.Y., Salih M.A., Chedrawi A., Alameer S., Tabarki B.,
RA Shamseldin H.E., Patel N., Ibrahim N., Abdulwahab F., Samira M., Goljan E.,
RA Abouelhoda M., Meyer B.F., Hashem M., Shaheen R., AlShahwan S.,
RA Alfadhel M., Ben-Omran T., Al-Qattan M.M., Monies D., Alkuraya F.S.;
RT "Autozygome and high throughput confirmation of disease genes candidacy.";
RL Genet. Med. 21:736-742(2019).
CC -!- FUNCTION: May influence the stability of microtubules (MT), possibly
CC through interaction with the MT-severing katanin complex.
CC {ECO:0000269|PubMed:26714646}.
CC -!- SUBUNIT: Interacts with microtubules. Interacts with 4 subunits of the
CC katanin complex: KATNA1, KATNAL1, KATNB1 and KATNBL1.
CC {ECO:0000269|PubMed:26714646}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:26714646}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000269|PubMed:26714646}. Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:26714646}. Note=When overexpressed, localizes to
CC the cytoplasm where it associates with acetylated alpha-tubulin.
CC {ECO:0000269|PubMed:26714646}.
CC -!- DISEASE: Joubert syndrome 26 (JBTS26) [MIM:616784]: A form of Joubert
CC syndrome, a disorder presenting with cerebellar ataxia, oculomotor
CC apraxia, hypotonia, neonatal breathing abnormalities and psychomotor
CC delay. Neuroradiologically, it is characterized by cerebellar vermian
CC hypoplasia/aplasia, thickened and reoriented superior cerebellar
CC peduncles, and an abnormally large interpeduncular fossa, giving the
CC appearance of a molar tooth on transaxial slices (molar tooth sign).
CC Additional variable features include retinal dystrophy, renal disease,
CC liver fibrosis, and polydactyly. JBTS26 inheritance is autosomal
CC recessive. {ECO:0000269|PubMed:26714646, ECO:0000269|PubMed:30237576}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA25482.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB011128; BAA25482.2; ALT_INIT; mRNA.
DR EMBL; AC002551; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC008732; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC016597; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC025275; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092330; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC150276; AAI50277.1; -; mRNA.
DR CCDS; CCDS32415.1; -.
DR PIR; T00330; T00330.
DR RefSeq; NP_056017.3; NM_015202.3.
DR AlphaFoldDB; O60303; -.
DR BioGRID; 116851; 11.
DR IntAct; O60303; 129.
DR STRING; 9606.ENSP00000261588; -.
DR iPTMnet; O60303; -.
DR PhosphoSitePlus; O60303; -.
DR BioMuta; KIAA0556; -.
DR EPD; O60303; -.
DR jPOST; O60303; -.
DR MassIVE; O60303; -.
DR MaxQB; O60303; -.
DR PaxDb; O60303; -.
DR PeptideAtlas; O60303; -.
DR PRIDE; O60303; -.
DR ProteomicsDB; 49331; -.
DR Antibodypedia; 26294; 29 antibodies from 10 providers.
DR DNASU; 23247; -.
DR Ensembl; ENST00000261588.10; ENSP00000261588.4; ENSG00000047578.14.
DR GeneID; 23247; -.
DR KEGG; hsa:23247; -.
DR MANE-Select; ENST00000261588.10; ENSP00000261588.4; NM_015202.5; NP_056017.4.
DR UCSC; uc002dow.4; human.
DR CTD; 23247; -.
DR DisGeNET; 23247; -.
DR GeneCards; KATNIP; -.
DR GeneReviews; KATNIP; -.
DR HGNC; HGNC:29068; KATNIP.
DR HPA; ENSG00000047578; Low tissue specificity.
DR MalaCards; KATNIP; -.
DR MIM; 616650; gene.
DR MIM; 616784; phenotype.
DR neXtProt; NX_O60303; -.
DR OpenTargets; ENSG00000047578; -.
DR Orphanet; 475; Joubert syndrome.
DR PharmGKB; PA162392880; -.
DR VEuPathDB; HostDB:ENSG00000047578; -.
DR eggNOG; ENOG502QRY1; Eukaryota.
DR GeneTree; ENSGT00390000004566; -.
DR HOGENOM; CLU_003418_0_1_1; -.
DR InParanoid; O60303; -.
DR OMA; QKPPWLA; -.
DR OrthoDB; 361541at2759; -.
DR PhylomeDB; O60303; -.
DR TreeFam; TF314150; -.
DR PathwayCommons; O60303; -.
DR SignaLink; O60303; -.
DR BioGRID-ORCS; 23247; 12 hits in 1081 CRISPR screens.
DR ChiTaRS; KIAA0556; human.
DR GenomeRNAi; 23247; -.
DR Pharos; O60303; Tdark.
DR PRO; PR:O60303; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; O60303; protein.
DR Bgee; ENSG00000047578; Expressed in right uterine tube and 166 other tissues.
DR ExpressionAtlas; O60303; baseline and differential.
DR Genevisible; O60303; HS.
DR GO; GO:0042995; C:cell projection; IEA:UniProtKB-KW.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IEA:Ensembl.
DR InterPro; IPR026704; KATNIP.
DR InterPro; IPR027859; KATNIP_dom.
DR PANTHER; PTHR21534; PTHR21534; 1.
DR Pfam; PF14652; DUF4457; 2.
PE 1: Evidence at protein level;
KW Cell projection; Ciliopathy; Coiled coil; Cytoplasm; Cytoskeleton;
KW Joubert syndrome; Phosphoprotein; Reference proteome.
FT CHAIN 1..1618
FT /note="Katanin-interacting protein"
FT /id="PRO_0000313090"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 84..106
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 119..138
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 212..260
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 616..691
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 706..727
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 743..899
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 932..963
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1154..1176
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 613..643
FT /evidence="ECO:0000255"
FT COMPBIAS 220..250
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 616..648
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 667..691
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 797..812
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 851..896
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1154..1168
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 453
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 660
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 691
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT VARIANT 522
FT /note="T -> M (in dbSNP:rs12930355)"
FT /id="VAR_037654"
FT VARIANT 535
FT /note="A -> S (in dbSNP:rs11643103)"
FT /id="VAR_037655"
FT VARIANT 558..1618
FT /note="Missing (in JBTS26; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30237576"
FT /id="VAR_082145"
FT VARIANT 885
FT /note="R -> Q (in dbSNP:rs16976970)"
FT /id="VAR_037656"
FT VARIANT 1240
FT /note="A -> V (in dbSNP:rs55953014)"
FT /id="VAR_061238"
FT VARIANT 1267
FT /note="A -> T (in dbSNP:rs4787984)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9628581"
FT /id="VAR_037657"
FT VARIANT 1368
FT /note="R -> Q (in dbSNP:rs11644502)"
FT /id="VAR_037658"
FT VARIANT 1597
FT /note="V -> I (in dbSNP:rs2287790)"
FT /id="VAR_037659"
SQ SEQUENCE 1618 AA; 180918 MW; B0E22A6B3D2F5E18 CRC64;
MDGQTLRKAE RSWSCSREKK EGYAKDMVTD FDEKHDEYLI LLQQRNRILK HLKSKDPVQL
RLEHLEQGFS VYVNGANSEL KSSPRKAIHS DFSRSASHTE GTHDYGRRTL FREAEEALRR
SSRTAPSKVQ RRGWHQKSVQ IRTEAGPRLH IEPPVDYSDD FELCGDVTLQ ANNTSEDRPQ
ELRRSLELSV NLQRKQKDCS SDEYDSIEED ILSEPEPEDP ALVGHPRHDR PPSSGDWTQK
DVHGEQETEG RSSPGPDTLV VLEFNPASKS HKRERNLSAK RKDNAEVFVP TKPEPNLTPQ
APAVFPDQER MCSRPGSRRE RPLSATRKTL CEAEYPEEDA SAVLQAIQVE NAALQRALLS
RKAEQPASPL QDAEGPPAKP WTSLLEEKEE TLELLPITTA TTTQEPAGAA GGARAINQAM
DRIGLLGSRQ QQKLLKVLQA VESDSAHLGR VVSPTKEQVS DTEDKQRMRA DEIKDAIYVT
MEILSNWGNS WWVGLTEVEF FDLNDTKLYV SPHDVDIRNT ATPGELGRLV NRNLAGKKDS
SPWTCPFHPP LQLFFVIRNT RQLGDFHLAK IKVRNYWTAD GDLDIGAKNV KLYVNRNLIF
NGKLDKGDRE APADHSILVD QKNEKSEQLE EAMNAHSEES KGTHEMAGAS GDKELGLGCS
PPAETLADAK LSSQGNVSGK RKNSTNCRKD SLSQLEEYLR LSAVPTSMGD MPSAPATSPP
VKCPPVHEEP SLIQQLENLM GRKICEPPGK TPSWLQPSPT GKDRKQGGRK PKPLWLSPEK
PLAWKGRLPS DDVIGEGPGE TEARDKGLRH EPGWGTSRSV NTKERPQRAT TKVHSDDSDI
FNQPPNRERP ASGRRGSRKD AGSSSHGDDQ PASREDTWSS RTPSRSRWRS EQEHTLHESW
SSLSAFDRSH RGRISNTELP GDILDELLQQ KSSRHSDLPP SKKGEQPGLS RGQDGYSGET
DAGGDFKIPV LPYGQRLVID IKSTWGDRHY VGLNGIEIFS SKGEPVQISN IKADPPDINI
LPAYGKDPRV VTNLIDGVNR TQDDMHVWLA PFTRGRSHSI TIDFTHPCHV ALIRIWNYNK
SRIHSFRGVK DITMLLDTQC IFEGEIAKAS GTLAGAPEHF GDTILFTTDD DILEAIFYSD
EMFDLDVGSL DSLQDEEAMR RPSTADGEGD ERPFTQAGLG ADERIPELEL PSSSPVPQVT
TPEPGIYHGI CLQLNFTASW GDLHYLGLTG LEVVGKEGQA LPIHLHQISA SPRDLNELPE
YSDDSRALDK LIDGTNITME DEHMWLIPFS PGLDHVVTIR LDRAESIAGL RFWNYNKSPE
DTYRGAKIVH VSLDGLCVSP PEGFLIRKGP GNCHFDFAQE ILFVDYLRAQ LLPQPARRLD
MRSLECASMD YEAPLMPCGF IFQFQLLTSW GDPYYIGLTG LELYDERGEK IPLSENNIAA
FPDSVNSLEG VGGDVRTPDK LIDQVNDTSD GRHMWLAPIL PGLVNRVYVI FDLPTTVSMI
KLWNYAKTPH RGVKEFGLLV DDLLVYNGIL AMVSHLVGGI LPTCEPTVPY HTILFTEDRD
IRHQEKHTTI SNQAEDQDVQ MMNENQIITN AKRKQSVVDP ALRPKTCISE KETRRRRC
