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Q8NAA5

- LR75A_HUMAN

UniProt

Q8NAA5 - LR75A_HUMAN

Protein

Leucine-rich repeat-containing protein 75A

Gene

LRRC75A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 2 (15 May 2007)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Leucine-rich repeat-containing protein 75A
    Alternative name(s):
    Leucine-rich repeat-containing protein FAM211A
    Gene namesi
    Name:LRRC75A
    Synonyms:C17orf76, FAM211A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:32403. LRRC75A.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485400.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 344344Leucine-rich repeat-containing protein 75APRO_0000286624Add
    BLAST

    Proteomic databases

    MaxQBiQ8NAA5.
    PaxDbiQ8NAA5.
    PRIDEiQ8NAA5.

    PTM databases

    PhosphoSiteiQ8NAA5.

    Expressioni

    Gene expression databases

    BgeeiQ8NAA5.
    CleanExiHS_C17orf76.
    GenevestigatoriQ8NAA5.

    Organism-specific databases

    HPAiHPA028528.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NAA5.
    SMRiQ8NAA5. Positions 175-271.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati204 – 21714LRR 1Add
    BLAST
    Repeati229 – 24214LRR 2Add
    BLAST

    Sequence similaritiesi

    Belongs to the LRRC75 family.Curated
    Contains 2 LRR (leucine-rich) repeats.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG41786.
    HOGENOMiHOG000111942.
    HOVERGENiHBG066484.
    InParanoidiQ8NAA5.
    OMAiKFPSVTW.
    OrthoDBiEOG7RZ5RM.
    PhylomeDBiQ8NAA5.
    TreeFamiTF332831.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NAA5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGTRQTKGSL AERASPGAAP GPRRERPDFW ASLLLRAGDK AGRAGAGMPP    50
    YHRRVGMVQE LLRMVRQGRR EEAGTLLQHL RQDLGMESTS LDDVLYRYAS 100
    FRNLVDPITH DLIISLARYI HCPKPEGDAL GAMEKLCRQL TYHLSPHSQW 150
    RRHRGLVKRK PQACLKAVLA GSPPDNTVDL SGIPLTSRDL ERVTSYLQRC 200
    GEQVDSVELG FTGLTDDMVL QLLPALSTLP RLTTLALNGN RLTRAVLRDL 250
    TDILKDPSKF PNVTWIDLGN NVDIFSLPQP FLLSLRKRSP KQGHLPTILE 300
    LGEGPGSGEE VREGTVGQED PGGGPVAPAE DHHEGKETVA AAQT 344
    Length:344
    Mass (Da):37,780
    Last modified:May 15, 2007 - v2
    Checksum:iE76D268A6D393A0C
    GO
    Isoform 2 (identifier: Q8NAA5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         126-212: EGDALGAMEK...QVDSVELGFT → PQGCPGRKPP...VDPGRAARPH
         213-344: Missing.

    Show »
    Length:212
    Mass (Da):23,031
    Checksum:i26D91F09C3814BEE
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei126 – 21287EGDAL…ELGFT → PQGCPGRKPPRQHSGPVGNP TDLPRPGAGDQLPTALWGAG RQRGAGLHRPHGRHGPAAAA STQHPAPPHHTGTQWQPVDP GRAARPH in isoform 2. 1 PublicationVSP_025134Add
    BLAST
    Alternative sequencei213 – 344132Missing in isoform 2. 1 PublicationVSP_025135Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC127540 Genomic DNA. No translation available.
    AC093484 Genomic DNA. No translation available.
    AK093015 mRNA. Translation: BAC04020.1.
    CCDSiCCDS11178.2. [Q8NAA5-2]
    CCDS45620.1. [Q8NAA5-1]
    RefSeqiNP_001107039.1. NM_001113567.2. [Q8NAA5-1]
    NP_997270.2. NM_207387.3. [Q8NAA5-2]
    UniGeneiHs.25425.

    Genome annotation databases

    EnsembliENST00000409083; ENSP00000386504; ENSG00000181350. [Q8NAA5-2]
    ENST00000470794; ENSP00000419502; ENSG00000181350. [Q8NAA5-1]
    GeneIDi388341.
    KEGGihsa:388341.
    UCSCiuc002gqh.3. human. [Q8NAA5-2]
    uc010cph.2. human. [Q8NAA5-1]

    Polymorphism databases

    DMDMi147640319.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC127540 Genomic DNA. No translation available.
    AC093484 Genomic DNA. No translation available.
    AK093015 mRNA. Translation: BAC04020.1 .
    CCDSi CCDS11178.2. [Q8NAA5-2 ]
    CCDS45620.1. [Q8NAA5-1 ]
    RefSeqi NP_001107039.1. NM_001113567.2. [Q8NAA5-1 ]
    NP_997270.2. NM_207387.3. [Q8NAA5-2 ]
    UniGenei Hs.25425.

    3D structure databases

    ProteinModelPortali Q8NAA5.
    SMRi Q8NAA5. Positions 175-271.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q8NAA5.

    Polymorphism databases

    DMDMi 147640319.

    Proteomic databases

    MaxQBi Q8NAA5.
    PaxDbi Q8NAA5.
    PRIDEi Q8NAA5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000409083 ; ENSP00000386504 ; ENSG00000181350 . [Q8NAA5-2 ]
    ENST00000470794 ; ENSP00000419502 ; ENSG00000181350 . [Q8NAA5-1 ]
    GeneIDi 388341.
    KEGGi hsa:388341.
    UCSCi uc002gqh.3. human. [Q8NAA5-2 ]
    uc010cph.2. human. [Q8NAA5-1 ]

    Organism-specific databases

    CTDi 388341.
    GeneCardsi GC17M016344.
    HGNCi HGNC:32403. LRRC75A.
    HPAi HPA028528.
    neXtProti NX_Q8NAA5.
    PharmGKBi PA143485400.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41786.
    HOGENOMi HOG000111942.
    HOVERGENi HBG066484.
    InParanoidi Q8NAA5.
    OMAi KFPSVTW.
    OrthoDBi EOG7RZ5RM.
    PhylomeDBi Q8NAA5.
    TreeFami TF332831.

    Miscellaneous databases

    GenomeRNAii 388341.
    NextBioi 101984.
    PROi Q8NAA5.

    Gene expression databases

    Bgeei Q8NAA5.
    CleanExi HS_C17orf76.
    Genevestigatori Q8NAA5.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 48-344 (ISOFORM 2).
      Tissue: Spleen.

    Entry informationi

    Entry nameiLR75A_HUMAN
    AccessioniPrimary (citable) accession number: Q8NAA5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: May 15, 2007
    Last modified: October 1, 2014
    This is version 80 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3