CRIPT_HUMAN
ID CRIPT_HUMAN Reviewed; 101 AA.
AC Q9P021;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Cysteine-rich PDZ-binding protein;
DE AltName: Full=Cysteine-rich interactor of PDZ three;
DE Short=Cysteine-rich interactor of PDZ3;
GN Name=CRIPT; ORFNames=HSPC139;
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].
RC TISSUE=Blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Tongue;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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].
RC TISSUE=Brain, and Kidney;
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 INTERACTION WITH DLG4.
RX PubMed=17474715; DOI=10.1021/bi062088k;
RA Saro D., Li T., Rupasinghe C., Paredes A., Caspers N., Spaller M.R.;
RT "A thermodynamic ligand binding study of the third PDZ domain (PDZ3) from
RT the mammalian neuronal protein PSD-95.";
RL Biochemistry 46:6340-6352(2007).
RN [7]
RP INVOLVEMENT IN SSMCF.
RX PubMed=24389050; DOI=10.1101/gr.160572.113;
RA Shaheen R., Faqeih E., Ansari S., Abdel-Salam G., Al-Hassnan Z.N.,
RA Al-Shidi T., Alomar R., Sogaty S., Alkuraya F.S.;
RT "Genomic analysis of primordial dwarfism reveals novel disease genes.";
RL Genome Res. 24:291-299(2014).
RN [8]
RP INVOLVEMENT IN SSMCF, AND VARIANT SSMCF TYR-3.
RX PubMed=27250922; DOI=10.1002/ajmg.a.37780;
RA Leduc M.S., Niu Z., Bi W., Zhu W., Miloslavskaya I., Chiang T., Streff H.,
RA Seavitt J.R., Murray S.A., Eng C., Chan A., Yang Y., Lalani S.R.;
RT "CRIPT exonic deletion and a novel missense mutation in a female with short
RT stature, dysmorphic features, microcephaly, and pigmentary abnormalities.";
RL Am. J. Med. Genet. A 170:2206-2211(2016).
CC -!- FUNCTION: Involved in the cytoskeletal anchoring of DLG4 in excitatory
CC synapses. {ECO:0000250|UniProtKB:Q792Q4}.
CC -!- SUBUNIT: Interacts with TUBB1. Interacts strongly with the PDZ3 domain
CC of members of the DLG4 family. Associates with microtubules (By
CC similarity). Interacts with DLG4. {ECO:0000250,
CC ECO:0000269|PubMed:17474715}.
CC -!- INTERACTION:
CC Q9P021; P78352: DLG4; NbExp=5; IntAct=EBI-946968, EBI-80389;
CC Q9P021; O76024: WFS1; NbExp=3; IntAct=EBI-946968, EBI-720609;
CC Q9P021; Q62936: Dlg3; Xeno; NbExp=5; IntAct=EBI-946968, EBI-349596;
CC Q9P021; P31016: Dlg4; Xeno; NbExp=2; IntAct=EBI-946968, EBI-375655;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Synapse {ECO:0000250}.
CC Cell projection, dendritic spine {ECO:0000250}. Note=Colocalizes with
CC DLG4 in asymmetric synapses. {ECO:0000250}.
CC -!- DISEASE: Short stature with microcephaly and distinctive facies (SSMCF)
CC [MIM:615789]: An autosomal recessive disease characterized by dwarfism,
CC microcephaly, and distinctive facial dysmorphism involving frontal
CC bossing, high forehead, sparse hair and eyebrows, telecanthus, mild
CC proptosis, anteverted nares, and flat nasal bridge.
CC {ECO:0000269|PubMed:24389050, ECO:0000269|PubMed:27250922}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the CRIPT family. {ECO:0000305}.
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DR EMBL; AF161488; AAF29103.1; -; mRNA.
DR EMBL; AK291298; BAF83987.1; -; mRNA.
DR EMBL; AC018682; AAY14836.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00239.1; -; Genomic_DNA.
DR EMBL; BC006980; AAH06980.1; -; mRNA.
DR EMBL; BC018653; AAH18653.1; -; mRNA.
DR CCDS; CCDS1829.1; -.
DR RefSeq; NP_054890.1; NM_014171.5.
DR PDB; 7DVQ; EM; 2.89 A; 0=1-101.
DR PDBsum; 7DVQ; -.
DR AlphaFoldDB; Q9P021; -.
DR SMR; Q9P021; -.
DR BioGRID; 114812; 18.
DR DIP; DIP-41219N; -.
DR IntAct; Q9P021; 18.
DR MINT; Q9P021; -.
DR STRING; 9606.ENSP00000238892; -.
DR iPTMnet; Q9P021; -.
DR PhosphoSitePlus; Q9P021; -.
DR SwissPalm; Q9P021; -.
DR BioMuta; CRIPT; -.
DR DMDM; 74734765; -.
DR EPD; Q9P021; -.
DR jPOST; Q9P021; -.
DR MassIVE; Q9P021; -.
DR MaxQB; Q9P021; -.
DR PaxDb; Q9P021; -.
DR PeptideAtlas; Q9P021; -.
DR PRIDE; Q9P021; -.
DR ProteomicsDB; 83536; -.
DR TopDownProteomics; Q9P021; -.
DR Antibodypedia; 29983; 101 antibodies from 22 providers.
DR DNASU; 9419; -.
DR Ensembl; ENST00000238892.4; ENSP00000238892.3; ENSG00000119878.6.
DR GeneID; 9419; -.
DR KEGG; hsa:9419; -.
DR MANE-Select; ENST00000238892.4; ENSP00000238892.3; NM_014171.6; NP_054890.1.
DR UCSC; uc002rve.5; human.
DR CTD; 9419; -.
DR DisGeNET; 9419; -.
DR GeneCards; CRIPT; -.
DR HGNC; HGNC:14312; CRIPT.
DR HPA; ENSG00000119878; Low tissue specificity.
DR MalaCards; CRIPT; -.
DR MIM; 604594; gene.
DR MIM; 615789; phenotype.
DR neXtProt; NX_Q9P021; -.
DR OpenTargets; ENSG00000119878; -.
DR PharmGKB; PA145149101; -.
DR VEuPathDB; HostDB:ENSG00000119878; -.
DR eggNOG; KOG3476; Eukaryota.
DR GeneTree; ENSGT00950000183100; -.
DR HOGENOM; CLU_133934_0_0_1; -.
DR InParanoid; Q9P021; -.
DR OMA; KTGFAIC; -.
DR OrthoDB; 1599604at2759; -.
DR PhylomeDB; Q9P021; -.
DR TreeFam; TF300144; -.
DR PathwayCommons; Q9P021; -.
DR SignaLink; Q9P021; -.
DR BioGRID-ORCS; 9419; 91 hits in 1062 CRISPR screens.
DR ChiTaRS; CRIPT; human.
DR GeneWiki; CRIPT; -.
DR GenomeRNAi; 9419; -.
DR Pharos; Q9P021; Tbio.
DR PRO; PR:Q9P021; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9P021; protein.
DR Bgee; ENSG00000119878; Expressed in endothelial cell and 203 other tissues.
DR Genevisible; Q9P021; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0030425; C:dendrite; ISS:UniProtKB.
DR GO; GO:0043198; C:dendritic shaft; ISS:UniProtKB.
DR GO; GO:0043197; C:dendritic spine; ISS:UniProtKB.
DR GO; GO:0043025; C:neuronal cell body; ISS:UniProtKB.
DR GO; GO:0014069; C:postsynaptic density; ISS:UniProtKB.
DR GO; GO:0008017; F:microtubule binding; ISS:CAFA.
DR GO; GO:0030165; F:PDZ domain binding; IDA:UniProtKB.
DR GO; GO:0044877; F:protein-containing complex binding; ISS:UniProtKB.
DR GO; GO:0097110; F:scaffold protein binding; IDA:BHF-UCL.
DR GO; GO:0031122; P:cytoplasmic microtubule organization; ISS:UniProtKB.
DR GO; GO:0045184; P:establishment of protein localization; ISS:UniProtKB.
DR GO; GO:0035372; P:protein localization to microtubule; ISS:UniProtKB.
DR GO; GO:1902897; P:regulation of postsynaptic density protein 95 clustering; ISS:CAFA.
DR InterPro; IPR019367; PDZ-binding_CRIPT.
DR PANTHER; PTHR11805; PTHR11805; 1.
DR Pfam; PF10235; Cript; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Cell projection; Cytoplasm; Disease variant; Dwarfism;
KW Reference proteome; Synapse.
FT CHAIN 1..101
FT /note="Cysteine-rich PDZ-binding protein"
FT /id="PRO_0000314563"
FT REGION 95..101
FT /note="Sufficient for interaction with DLG4"
FT /evidence="ECO:0000269|PubMed:17474715"
FT REGION 98..101
FT /note="PDZ3-binding"
FT VARIANT 3
FT /note="C -> Y (in SSMCF; dbSNP:rs757078301)"
FT /evidence="ECO:0000269|PubMed:27250922"
FT /id="VAR_078425"
FT HELIX 6..9
FT /evidence="ECO:0007829|PDB:7DVQ"
FT STRAND 24..26
FT /evidence="ECO:0007829|PDB:7DVQ"
FT TURN 27..29
FT /evidence="ECO:0007829|PDB:7DVQ"
FT STRAND 30..32
FT /evidence="ECO:0007829|PDB:7DVQ"
FT TURN 38..40
FT /evidence="ECO:0007829|PDB:7DVQ"
FT STRAND 41..43
FT /evidence="ECO:0007829|PDB:7DVQ"
FT STRAND 49..53
FT /evidence="ECO:0007829|PDB:7DVQ"
FT TURN 59..61
FT /evidence="ECO:0007829|PDB:7DVQ"
FT HELIX 74..80
FT /evidence="ECO:0007829|PDB:7DVQ"
FT TURN 84..86
FT /evidence="ECO:0007829|PDB:7DVQ"
FT STRAND 94..96
FT /evidence="ECO:0007829|PDB:7DVQ"
SQ SEQUENCE 101 AA; 11216 MW; 161B0F4CA87DFBAD CRC64;
MVCEKCEKKL GTVITPDTWK DGARNTTESG GRKLNENKAL TSKKARFDPY GKNKFSTCRI
CKSSVHQPGS HYCQGCAYKK GICAMCGKKV LDTKNYKQTS V
