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HCP5_HUMAN
ID   HCP5_HUMAN              Reviewed;         132 AA.
AC   Q6MZN7; Q04490;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   25-MAY-2022, entry version 89.
DE   RecName: Full=HLA class I histocompatibility antigen protein P5;
DE   AltName: Full=HLA complex protein P5;
DE   AltName: Full=Protein P5-1;
GN   Name=HCP5;
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], AND TISSUE SPECIFICITY.
RC   TISSUE=Spleen;
RX   PubMed=8462994; DOI=10.1007/bf00216390;
RA   Vernet C., Ribouchon M.-T., Chimini G., Jouanolle A.-M., Sidibe I.,
RA   Pontarotti P.;
RT   "A novel coding sequence belonging to a new multicopy gene family mapping
RT   within the human MHC class I region.";
RL   Immunogenetics 38:47-53(1993).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 MRNA].
RC   TISSUE=Rectum tumor;
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).
RN   [4]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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   [6]
RP   FUNCTION.
RX   PubMed=10199916; DOI=10.1007/s002510050513;
RA   Kulski J.K., Dawkins R.L.;
RT   "The P5 multicopy gene family in the MHC is related in sequence to human
RT   endogenous retroviruses HERV-L and HERV-16.";
RL   Immunogenetics 49:404-412(1999).
RN   [7]
RP   VARIANT GLY-112.
RX   PubMed=17641165; DOI=10.1126/science.1143767;
RA   Fellay J., Shianna K.V., Ge D., Colombo S., Ledergerber B., Weale M.,
RA   Zhang K., Gumbs C., Castagna A., Cossarizza A., Cozzi-Lepri A., De Luca A.,
RA   Easterbrook P., Francioli P., Mallal S., Martinez-Picado J., Miro J.M.,
RA   Obel N., Smith J.P., Wyniger J., Descombes P., Antonarakis S.E.,
RA   Letvin N.L., McMichael A.J., Haynes B.F., Telenti A., Goldstein D.B.;
RT   "A whole-genome association study of major determinants for host control of
RT   HIV-1.";
RL   Science 317:944-947(2007).
RN   [8]
RP   VARIANT GLY-112.
RX   PubMed=18301071; DOI=10.1097/qad.0b013e3282f470e4;
RA   Han Y., Lai J., Barditch-Crovo P., Gallant J.E., Williams T.M.,
RA   Siliciano R.F., Blankson J.N.;
RT   "The role of protective HCP5 and HLA-C associated polymorphisms in the
RT   control of HIV-1 replication in a subset of elite suppressors.";
RL   AIDS 22:541-544(2008).
CC   -!- TISSUE SPECIFICITY: Expressed in lymphoid tissues; Detected in spleen
CC       as well as in B-cell lines, NK cell lines and activated lymphocytes.
CC       {ECO:0000269|PubMed:8462994}.
CC   -!- MISCELLANEOUS: Variation Gly-112 is associated with low viral loads in
CC       untreated HIV patients. The level of circulating virus in the plasma of
CC       HIV patients (viral set point) varies among individuals during the
CC       nonsymptomatic phase preceding the progression to AIDS. This
CC       polymorphism explains 9.6% of the total variation in set point and is
CC       associated with the HLA-B*5701 allele, which has the strongest
CC       described protective impact on HIV disease progression. However, it is
CC       possible that HPC5 polymorphism, and not HLA-B*5701 allele, plays a
CC       direct role in the control in viremia in HIV patients.
CC   -!- MISCELLANEOUS: HCP5 is localized within the MHC class I region, but is
CC       not structurally related to MHC class I genes. HCP5 is related in
CC       sequence to human endogenous retroviruses HERV-L and HERV-16. It has
CC       sequence homology with retroviral Pol genes in HERV retroviral element;
CC       thus, it is itself a good candidate to interact with HIV-1, possibly
CC       through an antisense mechanism against retroviral transcript.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAA59986.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; L06175; AAA59986.1; ALT_FRAME; mRNA.
DR   EMBL; AK290875; BAF83564.1; -; mRNA.
DR   EMBL; BX640979; CAE45991.1; -; mRNA.
DR   EMBL; CH471081; EAX03398.1; -; Genomic_DNA.
DR   EMBL; BC106759; AAI06760.1; -; mRNA.
DR   AlphaFoldDB; Q6MZN7; -.
DR   IntAct; Q6MZN7; 1.
DR   MINT; Q6MZN7; -.
DR   iPTMnet; Q6MZN7; -.
DR   PhosphoSitePlus; Q6MZN7; -.
DR   BioMuta; HGNC:21659; -.
DR   PeptideAtlas; Q6MZN7; -.
DR   PRIDE; Q6MZN7; -.
DR   ProteomicsDB; 66575; -.
DR   GeneCards; HCP5; -.
DR   HGNC; HGNC:21659; HCP5.
DR   MIM; 604676; gene.
DR   neXtProt; NX_Q6MZN7; -.
DR   PharmGKB; PA134951826; -.
DR   PathwayCommons; Q6MZN7; -.
DR   ChiTaRS; HCP5; human.
DR   Pharos; Q6MZN7; Tdark.
DR   PRO; PR:Q6MZN7; -.
DR   Proteomes; UP000005640; Unplaced.
DR   RNAct; Q6MZN7; protein.
PE   2: Evidence at transcript level;
KW   Reference proteome.
FT   CHAIN           1..132
FT                   /note="HLA class I histocompatibility antigen protein P5"
FT                   /id="PRO_0000329059"
FT   VARIANT         32
FT                   /note="W -> R (in dbSNP:rs17206855)"
FT                   /id="VAR_042638"
FT   VARIANT         82
FT                   /note="W -> C (in dbSNP:rs2255221)"
FT                   /id="VAR_042639"
FT   VARIANT         93
FT                   /note="G -> E (in dbSNP:rs2255223)"
FT                   /id="VAR_042640"
FT   VARIANT         112
FT                   /note="V -> G (associated with low viral load in HIV
FT                   patients; dbSNP:rs2395029)"
FT                   /evidence="ECO:0000269|PubMed:17641165,
FT                   ECO:0000269|PubMed:18301071"
FT                   /id="VAR_042641"
FT   VARIANT         123
FT                   /note="H -> R (in dbSNP:rs3130907)"
FT                   /id="VAR_042642"
FT   CONFLICT        59..60
FT                   /note="QG -> K (in Ref. 1; AAA59986)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   132 AA;  14098 MW;  33BFBD82E613F773 CRC64;
     MLLRMSEHRN EALGNYLEMR LKSSFLRGLG SWKSNPLRLG GWTILLTLTM GQGEPGGPQG
     DPWVPHELLL PSLCDSSHAS SWGSGSITCA WRGGDSSSHP LVSGHILSNS PVAAVMCSSM
     GTHLSPFKGT LL
 
 
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