C144A_HUMAN
ID C144A_HUMAN Reviewed; 1427 AA.
AC A2RUR9; O60311; Q6ZU57;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 06-MAR-2007, sequence version 1.
DT 03-AUG-2022, entry version 104.
DE RecName: Full=Coiled-coil domain-containing protein 144A;
GN Name=CCDC144A; Synonyms=KIAA0565;
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).
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.
RA Ohara O., Nagase T., Ishikawa K.;
RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 238-1410 (ISOFORM 3).
RC TISSUE=Testis;
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 [6]
RP FUNCTION.
RX PubMed=32991878; DOI=10.1016/j.lfs.2020.118498;
RA Narula S., Tandon S., Kumar D., Varshney S., Adlakha K., Sengupta S.,
RA Singh S.K., Tandon C.;
RT "Human kidney stone matrix proteins alleviate hyperoxaluria induced renal
RT stress by targeting cell-crystal interactions.";
RL Life Sci. 262:118498-118498(2020).
CC -!- FUNCTION: May play a role in preventing the formation of kidney stones
CC through inhibition of calcium oxalate monohydrate (COM)
CC crystallization, attenuating COM-induced apoptotic injury to renal
CC epithelial cells (PubMed:32991878). May exhibit antilithiatic
CC (preventing the formation of kidney stones) activity through crystal
CC binding, hindering the crystal attachment to renal epithelial cells, a
CC pre-requisite to initiate inflammatory response (PubMed:32991878).
CC {ECO:0000269|PubMed:32991878}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=A2RUR9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A2RUR9-2; Sequence=VSP_029787, VSP_029789, VSP_029791;
CC Name=3;
CC IsoId=A2RUR9-3; Sequence=VSP_029788, VSP_029790, VSP_029791;
CC -!- SIMILARITY: Belongs to the CCDC144 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA25491.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA25491.2; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC86369.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB011137; BAA25491.2; ALT_SEQ; mRNA.
DR EMBL; AC098850; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC133019; AAI33020.1; -; mRNA.
DR EMBL; AK125971; BAC86369.1; ALT_FRAME; mRNA.
DR CCDS; CCDS45621.1; -. [A2RUR9-1]
DR RefSeq; NP_055510.1; NM_014695.2. [A2RUR9-1]
DR AlphaFoldDB; A2RUR9; -.
DR SMR; A2RUR9; -.
DR BioGRID; 115069; 3.
DR IntAct; A2RUR9; 1.
DR STRING; 9606.ENSP00000353717; -.
DR iPTMnet; A2RUR9; -.
DR PhosphoSitePlus; A2RUR9; -.
DR BioMuta; CCDC144A; -.
DR EPD; A2RUR9; -.
DR jPOST; A2RUR9; -.
DR MassIVE; A2RUR9; -.
DR PaxDb; A2RUR9; -.
DR PRIDE; A2RUR9; -.
DR ProteomicsDB; 516; -. [A2RUR9-1]
DR ProteomicsDB; 517; -. [A2RUR9-2]
DR ProteomicsDB; 518; -. [A2RUR9-3]
DR Antibodypedia; 6447; 43 antibodies from 12 providers.
DR DNASU; 9720; -.
DR Ensembl; ENST00000360524.12; ENSP00000353717.8; ENSG00000170160.18. [A2RUR9-1]
DR GeneID; 9720; -.
DR KEGG; hsa:9720; -.
DR UCSC; uc002gqk.2; human. [A2RUR9-1]
DR CTD; 9720; -.
DR DisGeNET; 9720; -.
DR GeneCards; CCDC144A; -.
DR HGNC; HGNC:29072; CCDC144A.
DR HPA; ENSG00000170160; Tissue enhanced (testis).
DR MIM; 619413; gene.
DR neXtProt; NX_A2RUR9; -.
DR OpenTargets; ENSG00000170160; -.
DR PharmGKB; PA162381473; -.
DR VEuPathDB; HostDB:ENSG00000170160; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000166080; -.
DR InParanoid; A2RUR9; -.
DR OrthoDB; 305292at2759; -.
DR PhylomeDB; A2RUR9; -.
DR TreeFam; TF342629; -.
DR PathwayCommons; A2RUR9; -.
DR SignaLink; A2RUR9; -.
DR BioGRID-ORCS; 9720; 145 hits in 1020 CRISPR screens.
DR ChiTaRS; CCDC144A; human.
DR GenomeRNAi; 9720; -.
DR Pharos; A2RUR9; Tdark.
DR PRO; PR:A2RUR9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; A2RUR9; protein.
DR Bgee; ENSG00000170160; Expressed in sural nerve and 103 other tissues.
DR ExpressionAtlas; A2RUR9; baseline and differential.
DR Genevisible; A2RUR9; HS.
DR InterPro; IPR040118; C144A/B/C.
DR InterPro; IPR039497; CC144C-like_CC_dom.
DR InterPro; IPR021885; DUF3496.
DR PANTHER; PTHR22245; PTHR22245; 1.
DR Pfam; PF14915; CCDC144C; 1.
DR Pfam; PF12001; DUF3496; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..1427
FT /note="Coiled-coil domain-containing protein 144A"
FT /id="PRO_0000312279"
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 87..189
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 213..261
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 453..485
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 528..586
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 490..545
FT /evidence="ECO:0000255"
FT COILED 648..1129
FT /evidence="ECO:0000255"
FT COILED 1155..1309
FT /evidence="ECO:0000255"
FT COMPBIAS 103..120
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 121..153
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 168..183
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 453..472
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 538..557
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 559..582
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..697
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9628581"
FT /id="VSP_029787"
FT VAR_SEQ 247..526
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029788"
FT VAR_SEQ 698..701
FT /note="LYDL -> MFNC (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9628581"
FT /id="VSP_029789"
FT VAR_SEQ 1124
FT /note="K -> KVVMREFQQEWTDLLKQQPTSEATSRCHINLDETQDSKKKLGQIRSE
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029790"
FT VAR_SEQ 1367..1427
FT /note="MQQKLQNDLTAEVAGSSQTGLHRIPQCSSFSSSSLHLLLCSICQPFFLILQL
FT LLNMNLDPI -> VSYLFSFGVQISDRILVCYLVK (in isoform 2 and
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:9628581"
FT /id="VSP_029791"
FT CONFLICT 1085
FT /note="Q -> R (in Ref. 5; BAC86369)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1427 AA; 165125 MW; 9538A4F523D8D5C5 CRC64;
MASWGGEKRG GAEGSPKPAV YATRKTPSVG SQGDQWYLGY PGDQWSSGFP YSWWKNSVGS
ESKHGEGALD QPQHDVRLED LGELHRAARS GDVPGVEHIL APGDTGVDKR DRKKSIQQLV
PEYKEKQTPE SLPQNNNPDW HPTNLTLSDE TCQRSKNLKV DDKCPSVSPS MPENQSATKE
LGQMNLTERE KMDTGVVLLS GNDTLHDLCQ SQLPENKESK EAEQDSELTS EEEQERLKGC
ENKQPQKTSQ EPEMAKDCDR EDIPIYPVLP HVQKSEEMWI EQGKLEWKNQ LKLVINELKQ
RFGEIYEKYK IPACPEEEPL LDNSTRGTDV KDIPFNLTNN IPGCEEEDAS EISVSVVFET
FPEQKEPSLK NIIHPYYHPY SGSQEHVCQS SSKFHLHENK LDCDNDNKPG IGHIFSTDKN
FHNDASTKKA RNPEVVMVEM KEDQEFDLQM TKNMNQNSDS GSTNNYKSLK PKLENLSSLP
PDSDRTSEVY LHEELQQDMQ KFKNEVNTLE EEFLALKKED VQLHKDVEEE MEKHRSNSTE
LSGTLTDGTT VGNDDDGLNQ QIPRKENGEH DRPADKTSNE KNEVKNQIYP EADFADSMEP
SEIASEDCEL SHSVYENFML LIEQLRMEYK DSASLPRIQD TFCLCEHLLK LKNNHCDQLT
VKLKQMENMV SVLQNELSET KKTKLQLELQ KIEWEKELYD LRLALKQENE EKRNADMLYN
KDSEQLRIKE EECGKVVETK QQLKWNLRRL VKELRTVRNN LDLVVQERND AQKQLSEEQD
ARILQDQILT SKQKELEMAR KKMNSEISHR HQKEKDLFHE DCMLQEEIAL LRLEIDTIKN
QNKQKEKKYF EDIEAVKEKN DNLQKIIKLN EETLTETILQ YSGQLNNLTA ENKILNSELE
NGKQNQERLE IEMESYRCRL AAAVRDCDQS QTARDLKLDF QRTRQEWVRL HDKMKVDMSG
LQAKNEILSE KLSNAESKIN SLQIQLHNTR DALGRESLIL ERVQRDLSQT QCQKKETEQM
YQIEQSKLKK YIAKQESVEE RLSQLQSENM LLRQQLDDAH KKANSQEKTS STIQDQFHSA
AKNLQAESEK QILSLQEKNK ELMDEYNHLK ERMDQCEKEK AGRKIDLTEA QETVPSRCLH
LDAENEVLQL QQTLFSMKAI QKQCETLQKN KKQLKQEVVN LKSYMERNML ERGKAEWHKL
LIEERARKEI EEKLNEAILT LQKQAAVSHE QLVQLREDNT TSIKTQMELT IKDLESEISR
IKTSQADFNK TELERYKELY LEEVKVRESL SNELSRTNEM IAEVSTQLTV EKEQTRSRSL
FTAYATRPVL ESPCVGNLND SEGLNRKHIP RKKRSALKDM ESYLLKMQQK LQNDLTAEVA
GSSQTGLHRI PQCSSFSSSS LHLLLCSICQ PFFLILQLLL NMNLDPI
