APRG1_HUMAN
ID APRG1_HUMAN Reviewed; 170 AA.
AC Q8IVJ8; B7ZMA0; Q8IVJ5; Q8IVJ9;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 104.
DE RecName: Full=APRG1 tumor suppressor candidate {ECO:0000312|HGNC:HGNC:24082};
DE AltName: Full=AP20 region protein 1 {ECO:0000303|PubMed:12543795};
GN Name=APRG1 {ECO:0000312|HGNC:HGNC:24082}; Synonyms=C3orf35;
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] (ISOFORMS 1; 2 AND 3), AND TISSUE SPECIFICITY
RP (ISOFORMS 1 AND 2).
RC TISSUE=Heart, Kidney, and Placenta;
RX PubMed=12543795;
RA Protopopov A., Kashuba V., Zabarovska V.I., Muravenko O.V., Lerman M.I.,
RA Klein G., Zabarovsky E.R.;
RT "An integrated physical and gene map of the 3.5-Mb chromosome 3p21.3 (AP20)
RT region implicated in major human epithelial malignancies.";
RL Cancer Res. 63:404-412(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
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 [4]
RP INDUCTION (ISOFORM 1).
RX PubMed=16187228; DOI=10.1007/s10549-005-4169-z;
RA Leris A.C., Roberts T.R., Jiang W.G., Newbold R.F., Mokbel K.;
RT "Evidence for a tumour suppressive function of APRG1 in breast cancer.";
RL Breast Cancer Res. Treat. 93:97-100(2005).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Comment=Additional isoforms seem to exist.;
CC Name=1; Synonyms=B {ECO:0000303|PubMed:12543795};
CC IsoId=Q8IVJ8-1; Sequence=Displayed;
CC Name=2; Synonyms=A {ECO:0000303|PubMed:12543795};
CC IsoId=Q8IVJ8-2; Sequence=VSP_025845;
CC Name=3; Synonyms=E {ECO:0000303|PubMed:12543795};
CC IsoId=Q8IVJ8-3; Sequence=VSP_025846;
CC -!- TISSUE SPECIFICITY: [Isoform 1]: Expressed at high levels in the
CC pancreas and placenta. {ECO:0000269|PubMed:12543795}.
CC -!- TISSUE SPECIFICITY: [Isoform 2]: Expressed at high levels in the
CC kidney. {ECO:0000269|PubMed:12543795}.
CC -!- INDUCTION: [Isoform 1]: Expression is lower in malignant breast tissue
CC than in normal tissue. {ECO:0000269|PubMed:16641997}.
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DR EMBL; AJ493599; CAD42702.1; -; mRNA.
DR EMBL; AJ493600; CAD42703.1; -; mRNA.
DR EMBL; AJ493603; CAD42706.1; -; mRNA.
DR EMBL; AC092055; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC136290; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC132691; AAI32692.1; -; mRNA.
DR EMBL; BC133024; AAI33025.1; -; mRNA.
DR EMBL; BC144376; AAI44377.1; -; mRNA.
DR EMBL; BC144377; AAI44378.1; -; mRNA.
DR RefSeq; NP_001289760.1; NM_001302831.1. [Q8IVJ8-3]
DR RefSeq; NP_001289761.1; NM_001302832.1. [Q8IVJ8-3]
DR RefSeq; NP_848029.2; NM_178339.2. [Q8IVJ8-1]
DR RefSeq; NP_848032.1; NM_178342.2. [Q8IVJ8-3]
DR RefSeq; NP_848034.2; NM_178344.2. [Q8IVJ8-3]
DR RefSeq; XP_016861780.1; XM_017006291.1. [Q8IVJ8-3]
DR RefSeq; XP_016861781.1; XM_017006292.1. [Q8IVJ8-3]
DR RefSeq; XP_016861782.1; XM_017006293.1. [Q8IVJ8-3]
DR RefSeq; XP_016861783.1; XM_017006294.1. [Q8IVJ8-3]
DR RefSeq; XP_016861784.1; XM_017006295.1. [Q8IVJ8-3]
DR RefSeq; XP_016861785.1; XM_017006296.1. [Q8IVJ8-3]
DR AlphaFoldDB; Q8IVJ8; -.
DR BioGRID; 130957; 1.
DR IntAct; Q8IVJ8; 1.
DR STRING; 9606.ENSP00000413537; -.
DR iPTMnet; Q8IVJ8; -.
DR PhosphoSitePlus; Q8IVJ8; -.
DR BioMuta; C3orf35; -.
DR PaxDb; Q8IVJ8; -.
DR PRIDE; Q8IVJ8; -.
DR ProteomicsDB; 70716; -. [Q8IVJ8-1]
DR DNASU; 339883; -.
DR GeneID; 339883; -.
DR CTD; 339883; -.
DR DisGeNET; 339883; -.
DR GeneCards; C3orf35; -.
DR HGNC; HGNC:24082; APRG1.
DR MIM; 611429; gene.
DR neXtProt; NX_Q8IVJ8; -.
DR eggNOG; ENOG502RU2H; Eukaryota.
DR InParanoid; Q8IVJ8; -.
DR PhylomeDB; Q8IVJ8; -.
DR PathwayCommons; Q8IVJ8; -.
DR SignaLink; Q8IVJ8; -.
DR BioGRID-ORCS; 339883; 12 hits in 1051 CRISPR screens.
DR GenomeRNAi; 339883; -.
DR Pharos; Q8IVJ8; Tdark.
DR PRO; PR:Q8IVJ8; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q8IVJ8; protein.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..170
FT /note="APRG1 tumor suppressor candidate"
FT /id="PRO_0000288935"
FT TRANSMEM 150..170
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 77..170
FT /note="KKTEVQKREGTDSIPAAGRSGTANQPSIAPHRCLFSRGITALDGLKRGRGCN
FT GAAHLVRGDAWKTKLGEPWVSIALALAGPGAILILELSWFLG -> DCMLVSLAKNKVN
FT VFGAIINMAASVSGVIGGLKFSRTYYVKGI (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12543795,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_025846"
FT VAR_SEQ 79..170
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12543795"
FT /id="VSP_025845"
FT VARIANT 107
FT /note="H -> Y (in dbSNP:rs17266511)"
FT /id="VAR_032538"
FT CONFLICT 104
FT /note="I -> V (in Ref. 1; CAD42703)"
FT /evidence="ECO:0000305"
FT CONFLICT 131
FT /note="A -> S (in Ref. 1; CAD42703)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 170 AA; 18525 MW; BA90128339FE92D3 CRC64;
MKTMATRKRC KLSRTGPEFE NVIKRLLCAR TFHTRIGGDL THGIINRGRR ANAEQMGLQG
SAQHFNIFPL DLWTQGKKTE VQKREGTDSI PAAGRSGTAN QPSIAPHRCL FSRGITALDG
LKRGRGCNGA AHLVRGDAWK TKLGEPWVSI ALALAGPGAI LILELSWFLG
