T121B_HUMAN
ID T121B_HUMAN Reviewed; 578 AA.
AC Q9BXQ6; A8MYY1;
DT 16-APR-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Transmembrane protein 121B {ECO:0000305};
DE AltName: Full=Cat eye syndrome critical region protein 6 {ECO:0000303|PubMed:11381032};
GN Name=TMEM121B {ECO:0000312|HGNC:HGNC:1844};
GN Synonyms=CECR6 {ECO:0000303|PubMed:11381032};
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).
RX PubMed=11381032; DOI=10.1101/gr.154901;
RA Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A.,
RA Bridgland L.J., Hu S., Birren B., Minoshima S., Shimizu N., Pan H.,
RA Nguyen T., Fang F., Fu Y., Ray L., Wu H., Shaull S., Phan S., Yao Z.,
RA Chen F., Huan A., Hu P., Wang Q., Loh P., Qi S., Roe B.A., McDermid H.E.;
RT "Analysis of the cat eye syndrome critical region in humans and the region
RT of conserved synteny in mice: a search for candidate genes at or near the
RT human chromosome 22 pericentromere.";
RL Genome Res. 11:1053-1070(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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=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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BXQ6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BXQ6-2; Sequence=VSP_045398;
CC -!- TISSUE SPECIFICITY: Widely expressed, especially in adult heart, brain,
CC prostate, testes, peripherical blood leukocytes and fetal brain.
CC -!- MISCELLANEOUS: Candidate gene for the Cat Eye Syndrome (CES), a
CC developmental disorder associated with the duplication of a 2 Mb region
CC of 22q11.2. Duplication usually takes in the form of a surpernumerary
CC bisatellited isodicentric chromosome, resulting in four copies of the
CC region (represents an inv dup(22)(q11)). CES is characterized
CC clinically by the combination of coloboma of the iris and anal atresia
CC with fistula, downslanting palpebral fissures, preauricular tags and/or
CC pits, frequent occurrence of heart and renal malformations, and normal
CC or near-normal mental development. {ECO:0000305|PubMed:11381032}.
CC -!- SIMILARITY: Belongs to the TMEM121 family. {ECO:0000305}.
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DR EMBL; AF307451; AAK30049.1; -; mRNA.
DR EMBL; AK095609; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC006946; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS13740.1; -. [Q9BXQ6-1]
DR CCDS; CCDS54494.1; -. [Q9BXQ6-2]
DR RefSeq; NP_001156551.1; NM_001163079.1. [Q9BXQ6-2]
DR RefSeq; NP_114096.1; NM_031890.3. [Q9BXQ6-1]
DR RefSeq; XP_011544426.1; XM_011546124.2. [Q9BXQ6-1]
DR AlphaFoldDB; Q9BXQ6; -.
DR SMR; Q9BXQ6; -.
DR BioGRID; 118172; 2.
DR STRING; 9606.ENSP00000329318; -.
DR GlyGen; Q9BXQ6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BXQ6; -.
DR PhosphoSitePlus; Q9BXQ6; -.
DR BioMuta; TMEM121B; -.
DR DMDM; 20177840; -.
DR MassIVE; Q9BXQ6; -.
DR PaxDb; Q9BXQ6; -.
DR PeptideAtlas; Q9BXQ6; -.
DR PRIDE; Q9BXQ6; -.
DR ProteomicsDB; 2436; -.
DR ProteomicsDB; 79482; -. [Q9BXQ6-1]
DR Antibodypedia; 22642; 118 antibodies from 17 providers.
DR DNASU; 27439; -.
DR Ensembl; ENST00000331437.4; ENSP00000329318.3; ENSG00000183307.4. [Q9BXQ6-1]
DR Ensembl; ENST00000399875.1; ENSP00000382764.1; ENSG00000183307.4. [Q9BXQ6-2]
DR GeneID; 27439; -.
DR KEGG; hsa:27439; -.
DR MANE-Select; ENST00000331437.4; ENSP00000329318.3; NM_031890.4; NP_114096.1.
DR UCSC; uc002zma.2; human. [Q9BXQ6-1]
DR CTD; 27439; -.
DR DisGeNET; 27439; -.
DR GeneCards; TMEM121B; -.
DR HGNC; HGNC:1844; TMEM121B.
DR HPA; ENSG00000183307; Group enriched (brain, prostate).
DR neXtProt; NX_Q9BXQ6; -.
DR OpenTargets; ENSG00000183307; -.
DR PharmGKB; PA26387; -.
DR VEuPathDB; HostDB:ENSG00000183307; -.
DR eggNOG; ENOG502R54H; Eukaryota.
DR GeneTree; ENSGT00940000154822; -.
DR HOGENOM; CLU_071314_0_0_1; -.
DR InParanoid; Q9BXQ6; -.
DR OMA; GCPDRSG; -.
DR OrthoDB; 1029672at2759; -.
DR PhylomeDB; Q9BXQ6; -.
DR TreeFam; TF336944; -.
DR PathwayCommons; Q9BXQ6; -.
DR BioGRID-ORCS; 27439; 11 hits in 1058 CRISPR screens.
DR GenomeRNAi; 27439; -.
DR Pharos; Q9BXQ6; Tdark.
DR PRO; PR:Q9BXQ6; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9BXQ6; protein.
DR Bgee; ENSG00000183307; Expressed in cortical plate and 101 other tissues.
DR Genevisible; Q9BXQ6; HS.
DR InterPro; IPR026624; CECR6.
DR InterPro; IPR032776; CECR6/TMEM121.
DR PANTHER; PTHR47399; PTHR47399; 1.
DR Pfam; PF14997; CECR6_TMEM121; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..578
FT /note="Transmembrane protein 121B"
FT /id="PRO_0000089466"
FT REGION 1..129
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 529..557
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 41..56
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 113..129
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 536..551
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 167
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99MX7"
FT MOD_RES 552
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99MX7"
FT VAR_SEQ 1..355
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045398"
SQ SEQUENCE 578 AA; 58425 MW; 19ECE9E0873A2891 CRC64;
MRPALGHPRS VSSASGSFPP PPAAARLQPL FLRGGSFRGR RGSGDSSTST STSRGGGGGR
RGGGGGSPSS STGAEREDDD ESLSVSKPLV PNAALLGPPA QVGAPAGPAP VAFSSSAATS
SSTSTPTSSC SMTAADFGGG AAAGAVGGPG SRSAGGAGGT GTGSGASCCP CCCCCGCPDR
PGRRGRRRGC APSPRCRWGY QALSVVLLLA QGGLLDLYLI AVTDLYWCSW IATDLVVVVG
WAIFFAKNSR GRRGGAASGA HNHHLHHHHA APPLHLPAPS AATAGAKARG ARGGAGGAGG
GLGAAAAAGE FAFAYLAWLI YSIAFTPKVV LILGTSILDL IELRAPFGTT GFRLTMALSV
PLLYSLVRAI SEAGAPPGSA GPLLLQPQRH RAAGCFLGTC LDLLDSFTLV ELMLEGRVPL
PAHLRYLLIA VYFLTLASPV LWLYELNAAA AAAASWGQAS GPGSCSRLLR LLGGCLVDVP
LLALRCLLVV SYQQPLSIFM LKNLFFLGCR GLEALEGCWD RGNRASPSRA RGGYGAPPSA
PPPPPPPPQG GSQLGHCISE NEGGAHGYVN TLAVASQN
