RIBC2_HUMAN
ID RIBC2_HUMAN Reviewed; 382 AA.
AC Q9H4K1; A0A087X0F7; Q6ICD0; Q9Y413;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2019, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=RIB43A-like with coiled-coils protein 2 {ECO:0000305};
GN Name=RIBC2 {ECO:0000312|HGNC:HGNC:13241}; Synonyms=C22orf11;
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].
RX PubMed=12529303; DOI=10.1101/gr.695703;
RA Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S.,
RA Bye J.M., Beare D.M., Dunham I.;
RT "Reevaluating human gene annotation: a second-generation analysis of
RT chromosome 22.";
RL Genome Res. 13:27-36(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [3]
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-2014) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
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 71-382, AND VARIANTS LEU-268 AND
RP GLN-335.
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 74-382.
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 233-382, AND VARIANTS LEU-268 AND
RP GLN-335.
RC TISSUE=Kidney;
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).
CC -!- FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated
CC doublet microtubules (DMTs) in cilia axoneme, which is required for
CC motile cilia beating. {ECO:0000250|UniProtKB:Q32LJ7}.
CC -!- INTERACTION:
CC Q9H4K1; P14079: tax; Xeno; NbExp=3; IntAct=EBI-740128, EBI-9675698;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q32LJ7}.
CC -!- SIMILARITY: Belongs to the RIB43A family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH03024.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH09904.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAC09526.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAC09526.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=CAG30324.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL442116; CAC09526.1; ALT_SEQ; mRNA.
DR EMBL; AL021391; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471138; EAW73384.1; -; Genomic_DNA.
DR EMBL; BC003024; AAH03024.1; ALT_INIT; mRNA.
DR EMBL; BC009904; AAH09904.1; ALT_INIT; mRNA.
DR EMBL; CR456438; CAG30324.1; ALT_INIT; mRNA.
DR EMBL; CR457398; CAG33679.1; -; mRNA.
DR EMBL; AL050075; CAB43258.1; -; mRNA.
DR CCDS; CCDS14066.2; -.
DR PIR; T08734; T08734.
DR RefSeq; NP_056468.3; NM_015653.4.
DR RefSeq; XP_005261581.1; XM_005261524.4.
DR AlphaFoldDB; Q9H4K1; -.
DR SMR; Q9H4K1; -.
DR BioGRID; 117581; 30.
DR IntAct; Q9H4K1; 30.
DR MINT; Q9H4K1; -.
DR STRING; 9606.ENSP00000483356; -.
DR PhosphoSitePlus; Q9H4K1; -.
DR BioMuta; RIBC2; -.
DR DMDM; 74752644; -.
DR EPD; Q9H4K1; -.
DR MassIVE; Q9H4K1; -.
DR PaxDb; Q9H4K1; -.
DR PeptideAtlas; Q9H4K1; -.
DR PRIDE; Q9H4K1; -.
DR ProteomicsDB; 80849; -.
DR Antibodypedia; 303; 98 antibodies from 15 providers.
DR DNASU; 26150; -.
DR Ensembl; ENST00000614167.2; ENSP00000483356.1; ENSG00000128408.9.
DR GeneID; 26150; -.
DR KEGG; hsa:26150; -.
DR MANE-Select; ENST00000614167.2; ENSP00000483356.1; NM_015653.5; NP_056468.3.
DR UCSC; uc032qrc.2; human.
DR CTD; 26150; -.
DR DisGeNET; 26150; -.
DR GeneCards; RIBC2; -.
DR HGNC; HGNC:13241; RIBC2.
DR HPA; ENSG00000128408; Tissue enhanced (choroid plexus, fallopian tube, testis).
DR neXtProt; NX_Q9H4K1; -.
DR OpenTargets; ENSG00000128408; -.
DR PharmGKB; PA134967342; -.
DR VEuPathDB; HostDB:ENSG00000128408; -.
DR eggNOG; ENOG502QWST; Eukaryota.
DR GeneTree; ENSGT00390000010825; -.
DR HOGENOM; CLU_061822_0_1_1; -.
DR InParanoid; Q9H4K1; -.
DR OMA; NYYRCRY; -.
DR OrthoDB; 1276305at2759; -.
DR PhylomeDB; Q9H4K1; -.
DR PathwayCommons; Q9H4K1; -.
DR SignaLink; Q9H4K1; -.
DR BioGRID-ORCS; 26150; 1 hit in 216 CRISPR screens.
DR ChiTaRS; RIBC2; human.
DR GenomeRNAi; 26150; -.
DR Pharos; Q9H4K1; Tdark.
DR PRO; PR:Q9H4K1; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9H4K1; protein.
DR Bgee; ENSG00000128408; Expressed in bronchial epithelial cell and 113 other tissues.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR InterPro; IPR008805; RIB43A.
DR PANTHER; PTHR14517; PTHR14517; 1.
DR Pfam; PF05914; RIB43A; 1.
PE 1: Evidence at protein level;
KW Cell projection; Coiled coil; Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..382
FT /note="RIB43A-like with coiled-coils protein 2"
FT /id="PRO_0000254098"
FT COILED 222..255
FT /evidence="ECO:0000255"
FT VARIANT 253
FT /note="R -> C (in dbSNP:rs2142661)"
FT /id="VAR_028812"
FT VARIANT 268
FT /note="F -> L (in dbSNP:rs1022478)"
FT /evidence="ECO:0000269|PubMed:15461802,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_028813"
FT VARIANT 335
FT /note="R -> Q (in dbSNP:rs2072770)"
FT /evidence="ECO:0000269|PubMed:15461802,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_028814"
SQ SEQUENCE 382 AA; 45427 MW; B39EC19E335B97D4 CRC64;
MGSQTMAVAL PRDLRQDANL AKRRHAELCR QKRVFNARNR IIGGDTEAWD VQVHDQKIKE
ATEKARHETF AAEMRQNDKI MCILENRKKR DRKNLCRAIN DFQQSFQKPE TRREFDLSDP
LALKKDLPAR QSDNDVRNTI SGMQKFMGED LNFHERKKFQ EEQNREWSLQ QQREWKNARA
EQKCAEALYT ETRLQFDETA KHLQKLESTT RKAVCASVKD FNKSQAIESV ERKKQEKKQE
QEDNLAEITN LLRGDLLSEN PQQAASSFGP HRVVPDRWKG MTQEQLEQIR LVQKQQIQEK
LRLQEEKRQR DLDWDRRRIQ GARATLLFER QQWRRQRDLR RALDSSNLSL AKEQHLQKKY
MNEVYTNQPT GDYFTQFNTG SR
