LR75A_HUMAN
ID LR75A_HUMAN Reviewed; 344 AA.
AC Q8NAA5;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Leucine-rich repeat-containing protein 75A;
DE AltName: Full=Leucine-rich repeat-containing protein FAM211A;
GN Name=LRRC75A; Synonyms=C17orf76, FAM211A;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 48-344 (ISOFORM 2).
RC TISSUE=Spleen;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NAA5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NAA5-2; Sequence=VSP_025134, VSP_025135;
CC -!- SIMILARITY: Belongs to the LRRC75 family. {ECO:0000305}.
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DR EMBL; AC127540; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093484; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK093015; BAC04020.1; -; mRNA.
DR CCDS; CCDS11178.2; -. [Q8NAA5-2]
DR CCDS; CCDS45620.1; -. [Q8NAA5-1]
DR RefSeq; NP_001107039.1; NM_001113567.2. [Q8NAA5-1]
DR RefSeq; NP_997270.2; NM_207387.3. [Q8NAA5-2]
DR AlphaFoldDB; Q8NAA5; -.
DR STRING; 9606.ENSP00000419502; -.
DR GlyGen; Q8NAA5; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NAA5; -.
DR PhosphoSitePlus; Q8NAA5; -.
DR BioMuta; LRRC75A; -.
DR DMDM; 147640319; -.
DR jPOST; Q8NAA5; -.
DR MassIVE; Q8NAA5; -.
DR MaxQB; Q8NAA5; -.
DR PaxDb; Q8NAA5; -.
DR PeptideAtlas; Q8NAA5; -.
DR PRIDE; Q8NAA5; -.
DR ProteomicsDB; 72664; -. [Q8NAA5-1]
DR ProteomicsDB; 72665; -. [Q8NAA5-2]
DR Antibodypedia; 25337; 19 antibodies from 10 providers.
DR DNASU; 388341; -.
DR Ensembl; ENST00000409083.7; ENSP00000386504.3; ENSG00000181350.12. [Q8NAA5-2]
DR Ensembl; ENST00000470794.2; ENSP00000419502.1; ENSG00000181350.12. [Q8NAA5-1]
DR GeneID; 388341; -.
DR KEGG; hsa:388341; -.
DR MANE-Select; ENST00000470794.2; ENSP00000419502.1; NM_001113567.3; NP_001107039.1.
DR UCSC; uc002gqh.4; human. [Q8NAA5-1]
DR CTD; 388341; -.
DR GeneCards; LRRC75A; -.
DR HGNC; HGNC:32403; LRRC75A.
DR HPA; ENSG00000181350; Tissue enhanced (intestine).
DR neXtProt; NX_Q8NAA5; -.
DR OpenTargets; ENSG00000181350; -.
DR PharmGKB; PA143485400; -.
DR VEuPathDB; HostDB:ENSG00000181350; -.
DR eggNOG; ENOG502QVX0; Eukaryota.
DR GeneTree; ENSGT00940000161370; -.
DR HOGENOM; CLU_112938_0_0_1; -.
DR InParanoid; Q8NAA5; -.
DR OMA; RCPKQGH; -.
DR PhylomeDB; Q8NAA5; -.
DR TreeFam; TF332831; -.
DR PathwayCommons; Q8NAA5; -.
DR SignaLink; Q8NAA5; -.
DR BioGRID-ORCS; 388341; 16 hits in 1064 CRISPR screens.
DR ChiTaRS; LRRC75A; human.
DR GenomeRNAi; 388341; -.
DR Pharos; Q8NAA5; Tdark.
DR PRO; PR:Q8NAA5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8NAA5; protein.
DR Bgee; ENSG00000181350; Expressed in ileal mucosa and 110 other tissues.
DR Genevisible; Q8NAA5; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR032675; LRR_dom_sf.
PE 2: Evidence at transcript level;
KW Alternative splicing; Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..344
FT /note="Leucine-rich repeat-containing protein 75A"
FT /id="PRO_0000286624"
FT REPEAT 204..217
FT /note="LRR 1"
FT REPEAT 229..242
FT /note="LRR 2"
FT REGION 1..25
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 295..344
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 126..212
FT /note="EGDALGAMEKLCRQLTYHLSPHSQWRRHRGLVKRKPQACLKAVLAGSPPDNT
FT VDLSGIPLTSRDLERVTSYLQRCGEQVDSVELGFT -> PQGCPGRKPPRQHSGPVGNP
FT TDLPRPGAGDQLPTALWGAGRQRGAGLHRPHGRHGPAAAASTQHPAPPHHTGTQWQPVD
FT PGRAARPH (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025134"
FT VAR_SEQ 213..344
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025135"
SQ SEQUENCE 344 AA; 37780 MW; E76D268A6D393A0C CRC64;
MGTRQTKGSL AERASPGAAP GPRRERPDFW ASLLLRAGDK AGRAGAGMPP YHRRVGMVQE
LLRMVRQGRR EEAGTLLQHL RQDLGMESTS LDDVLYRYAS FRNLVDPITH DLIISLARYI
HCPKPEGDAL GAMEKLCRQL TYHLSPHSQW RRHRGLVKRK PQACLKAVLA GSPPDNTVDL
SGIPLTSRDL ERVTSYLQRC GEQVDSVELG FTGLTDDMVL QLLPALSTLP RLTTLALNGN
RLTRAVLRDL TDILKDPSKF PNVTWIDLGN NVDIFSLPQP FLLSLRKRSP KQGHLPTILE
LGEGPGSGEE VREGTVGQED PGGGPVAPAE DHHEGKETVA AAQT
