IPP_HUMAN
ID IPP_HUMAN Reviewed; 584 AA.
AC Q9Y573; A2A6V4; D3DQ11; Q8N5C3;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Actin-binding protein IPP;
DE AltName: Full=Intracisternal A particle-promoted polypeptide;
DE Short=IPP;
DE AltName: Full=Kelch-like protein 27;
GN Name=IPP; Synonyms=KLHL27;
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 [MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=10072760; DOI=10.1016/s0378-1119(99)00006-2;
RA Kim I.F., Mohammadi E., Huang R.C.;
RT "Isolation and characterization of IPP, a novel human gene encoding an
RT actin-binding, kelch-like protein.";
RL Gene 228:73-83(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Thyroid;
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 [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-264.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ARG-264.
RC TISSUE=Uterus;
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 [6]
RP CHROMOSOMAL LOCATION.
RX PubMed=8432546; DOI=10.1006/geno.1993.1048;
RA Chang-Yeh A., Jabs E.W., Li X., Dracopoli N.C., Huang R.C.;
RT "The IPP gene is assigned to human chromosome 1p32-1p22.";
RL Genomics 15:239-241(1993).
CC -!- FUNCTION: May play a role in organizing the actin cytoskeleton.
CC -!- INTERACTION:
CC Q9Y573-2; Q96ED9-2: HOOK2; NbExp=3; IntAct=EBI-10976190, EBI-10961706;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y573-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y573-2; Sequence=VSP_040993;
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DR EMBL; AF156857; AAD39007.1; -; mRNA.
DR EMBL; AK023880; BAG51233.1; -; mRNA.
DR EMBL; AL604028; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX664740; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR589949; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX06950.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX06951.1; -; Genomic_DNA.
DR EMBL; BC032544; AAH32544.1; -; mRNA.
DR CCDS; CCDS30702.1; -. [Q9Y573-1]
DR CCDS; CCDS44132.1; -. [Q9Y573-2]
DR RefSeq; NP_001138821.1; NM_001145349.1. [Q9Y573-2]
DR RefSeq; NP_005888.1; NM_005897.2. [Q9Y573-1]
DR AlphaFoldDB; Q9Y573; -.
DR SMR; Q9Y573; -.
DR BioGRID; 109861; 36.
DR IntAct; Q9Y573; 14.
DR STRING; 9606.ENSP00000379739; -.
DR iPTMnet; Q9Y573; -.
DR PhosphoSitePlus; Q9Y573; -.
DR BioMuta; IPP; -.
DR DMDM; 13431578; -.
DR EPD; Q9Y573; -.
DR jPOST; Q9Y573; -.
DR MassIVE; Q9Y573; -.
DR MaxQB; Q9Y573; -.
DR PaxDb; Q9Y573; -.
DR PeptideAtlas; Q9Y573; -.
DR PRIDE; Q9Y573; -.
DR ProteomicsDB; 86302; -. [Q9Y573-1]
DR ProteomicsDB; 86303; -. [Q9Y573-2]
DR Antibodypedia; 32715; 70 antibodies from 17 providers.
DR DNASU; 3652; -.
DR Ensembl; ENST00000359942.8; ENSP00000353024.4; ENSG00000197429.11. [Q9Y573-2]
DR Ensembl; ENST00000396478.4; ENSP00000379739.3; ENSG00000197429.11. [Q9Y573-1]
DR GeneID; 3652; -.
DR KEGG; hsa:3652; -.
DR MANE-Select; ENST00000396478.4; ENSP00000379739.3; NM_005897.3; NP_005888.1.
DR UCSC; uc001cos.5; human. [Q9Y573-1]
DR CTD; 3652; -.
DR DisGeNET; 3652; -.
DR GeneCards; IPP; -.
DR HGNC; HGNC:6108; IPP.
DR HPA; ENSG00000197429; Low tissue specificity.
DR MIM; 147485; gene.
DR neXtProt; NX_Q9Y573; -.
DR OpenTargets; ENSG00000197429; -.
DR PharmGKB; PA29908; -.
DR VEuPathDB; HostDB:ENSG00000197429; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000158629; -.
DR HOGENOM; CLU_004253_14_1_1; -.
DR InParanoid; Q9Y573; -.
DR OMA; QAAYNWI; -.
DR OrthoDB; 938011at2759; -.
DR PhylomeDB; Q9Y573; -.
DR TreeFam; TF329218; -.
DR PathwayCommons; Q9Y573; -.
DR SignaLink; Q9Y573; -.
DR BioGRID-ORCS; 3652; 14 hits in 1114 CRISPR screens.
DR ChiTaRS; IPP; human.
DR GenomeRNAi; 3652; -.
DR Pharos; Q9Y573; Tbio.
DR PRO; PR:Q9Y573; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9Y573; protein.
DR Bgee; ENSG00000197429; Expressed in skeletal muscle tissue of biceps brachii and 199 other tissues.
DR Genevisible; Q9Y573; HS.
DR GO; GO:0015629; C:actin cytoskeleton; TAS:ProtInc.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0003779; F:actin binding; TAS:ProtInc.
DR Gene3D; 2.120.10.80; -; 2.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR017096; BTB-kelch_protein.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR011043; Gal_Oxase/kelch_b-propeller.
DR InterPro; IPR030104; IPP.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR24412:SF35; PTHR24412:SF35; 1.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF01344; Kelch_1; 6.
DR PIRSF; PIRSF037037; Kelch-like_protein_gigaxonin; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00612; Kelch; 6.
DR SUPFAM; SSF50965; SSF50965; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW Actin-binding; Alternative splicing; Cytoplasm; Cytoskeleton; Kelch repeat;
KW Reference proteome; Repeat.
FT CHAIN 1..584
FT /note="Actin-binding protein IPP"
FT /id="PRO_0000119075"
FT DOMAIN 37..104
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REPEAT 289..343
FT /note="Kelch 1"
FT REPEAT 344..390
FT /note="Kelch 2"
FT REPEAT 391..437
FT /note="Kelch 3"
FT REPEAT 439..485
FT /note="Kelch 4"
FT REPEAT 487..533
FT /note="Kelch 5"
FT REPEAT 535..583
FT /note="Kelch 6"
FT VAR_SEQ 551..584
FT /note="GTLDSVEVYNPHSDTWTEIGNMITSRCEGGVAVL -> DTHRYEVFRLKWEN
FT MCILFNDHKTLTKGIFNL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040993"
FT VARIANT 264
FT /note="K -> R (in dbSNP:rs28375469)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4"
FT /id="VAR_050045"
SQ SEQUENCE 584 AA; 65261 MW; C63EF25D74924AB8 CRC64;
MANEDCPKAA DSPFSSDKHA QLILAQINKM RNGQHFCDVQ LQVGQESFKA HRLVLAASSP
YFAALFTGGM KESSKDVVPI LGIEAGIFQI LLDFIYTGIV NIGVNNVQEL IIAADMLQLT
EVVHLCCEFL KGQIDPLNCI GIFQFSEQIA CHDLLEFSEN YIHVHFLEVH SGEEFLALTK
DQLIKILRSE ELSIEDEYQV FLAAMQWILK DLGKRRKHVV EVLDPIRFPL LPPQRLLKYI
EGVSDFNLRV ALQTLLKEYC EVCKSPKENK FCSFLQTSKV RPRKKARKYL YAVGGYTRLQ
GGRWSDSRAL SCVERFDTFS QYWTTVSSLH QARSGLGVTV LGGMVYAIGG EKDSMIFDCT
ECYDPVTKQW TTVASMNHPR CGLGVCVCYG AIYALGGWVG AEIGNTIERF DPDENKWEVV
GNMAVSRYYF GCCEMQGLIY VIGGISNEGI ELRSFEVYDP LSKRWSPLPP MGTRRAYLGV
AALNDCIYSV GGWNETQDAL HTVEKYSFEE EKWVEVASMK VPRAGMCVVA VNGLLYVSGG
RSSSHDFLAP GTLDSVEVYN PHSDTWTEIG NMITSRCEGG VAVL