CC020_HUMAN
ID CC020_HUMAN Reviewed; 904 AA.
AC Q8ND61; Q7L0U6; Q8NCP2; Q9H0I7;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Uncharacterized protein C3orf20;
GN Name=C3orf20;
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 MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP THR-298; VAL-407 AND VAL-422.
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP TYR-230; THR-298; VAL-407 AND VAL-422.
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).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8ND61-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8ND61-2; Sequence=VSP_017722;
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DR EMBL; AL136781; CAB66715.1; -; mRNA.
DR EMBL; AL834386; CAD39049.1; -; mRNA.
DR EMBL; BC030599; AAH30599.1; -; mRNA.
DR EMBL; BC038406; AAH38406.2; -; mRNA.
DR CCDS; CCDS33706.1; -. [Q8ND61-1]
DR CCDS; CCDS54555.1; -. [Q8ND61-2]
DR RefSeq; NP_001171886.1; NM_001184957.1. [Q8ND61-2]
DR RefSeq; NP_001171887.1; NM_001184958.1. [Q8ND61-2]
DR RefSeq; NP_115513.4; NM_032137.4. [Q8ND61-1]
DR AlphaFoldDB; Q8ND61; -.
DR BioGRID; 123872; 6.
DR IntAct; Q8ND61; 1.
DR STRING; 9606.ENSP00000253697; -.
DR iPTMnet; Q8ND61; -.
DR PhosphoSitePlus; Q8ND61; -.
DR BioMuta; C3orf20; -.
DR DMDM; 116241285; -.
DR jPOST; Q8ND61; -.
DR MassIVE; Q8ND61; -.
DR MaxQB; Q8ND61; -.
DR PaxDb; Q8ND61; -.
DR PeptideAtlas; Q8ND61; -.
DR PRIDE; Q8ND61; -.
DR ProteomicsDB; 72981; -. [Q8ND61-1]
DR ProteomicsDB; 72982; -. [Q8ND61-2]
DR Antibodypedia; 45080; 69 antibodies from 15 providers.
DR DNASU; 84077; -.
DR Ensembl; ENST00000253697.8; ENSP00000253697.3; ENSG00000131379.10. [Q8ND61-1]
DR Ensembl; ENST00000412910.1; ENSP00000396081.1; ENSG00000131379.10. [Q8ND61-2]
DR Ensembl; ENST00000435614.5; ENSP00000402933.1; ENSG00000131379.10. [Q8ND61-2]
DR GeneID; 84077; -.
DR KEGG; hsa:84077; -.
DR MANE-Select; ENST00000253697.8; ENSP00000253697.3; NM_032137.5; NP_115513.4.
DR UCSC; uc003byy.4; human. [Q8ND61-1]
DR CTD; 84077; -.
DR DisGeNET; 84077; -.
DR GeneCards; C3orf20; -.
DR HGNC; HGNC:25320; C3orf20.
DR HPA; ENSG00000131379; Tissue enriched (testis).
DR neXtProt; NX_Q8ND61; -.
DR OpenTargets; ENSG00000131379; -.
DR PharmGKB; PA134977176; -.
DR VEuPathDB; HostDB:ENSG00000131379; -.
DR eggNOG; KOG4106; Eukaryota.
DR GeneTree; ENSGT00940000153655; -.
DR HOGENOM; CLU_015383_0_0_1; -.
DR InParanoid; Q8ND61; -.
DR OMA; QEMCRHI; -.
DR OrthoDB; 891307at2759; -.
DR PhylomeDB; Q8ND61; -.
DR TreeFam; TF333451; -.
DR PathwayCommons; Q8ND61; -.
DR SignaLink; Q8ND61; -.
DR BioGRID-ORCS; 84077; 4 hits in 1050 CRISPR screens.
DR ChiTaRS; C3orf20; human.
DR GenomeRNAi; 84077; -.
DR Pharos; Q8ND61; Tdark.
DR PRO; PR:Q8ND61; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8ND61; protein.
DR Bgee; ENSG00000131379; Expressed in sperm and 37 other tissues.
DR ExpressionAtlas; Q8ND61; baseline and differential.
DR Genevisible; Q8ND61; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR029281; FAM194_C.
DR Pfam; PF14977; FAM194; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..904
FT /note="Uncharacterized protein C3orf20"
FT /id="PRO_0000228843"
FT TRANSMEM 778..798
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 247..275
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 328..360
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 342..360
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..122
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_017722"
FT VARIANT 42
FT /note="G -> D (in dbSNP:rs17040154)"
FT /id="VAR_027886"
FT VARIANT 65
FT /note="D -> N (in dbSNP:rs9821143)"
FT /id="VAR_027887"
FT VARIANT 176
FT /note="A -> T (in dbSNP:rs17040196)"
FT /id="VAR_025722"
FT VARIANT 205
FT /note="Q -> R (in dbSNP:rs34230332)"
FT /id="VAR_056770"
FT VARIANT 230
FT /note="S -> Y (in dbSNP:rs17852774)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027888"
FT VARIANT 298
FT /note="A -> T (in dbSNP:rs17040196)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_027889"
FT VARIANT 407
FT /note="I -> V (in dbSNP:rs6765537)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_027890"
FT VARIANT 422
FT /note="L -> V (in dbSNP:rs6790129)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_027891"
FT VARIANT 689
FT /note="A -> V (in dbSNP:rs34045813)"
FT /id="VAR_056771"
SQ SEQUENCE 904 AA; 101266 MW; 82A77FA4740D8263 CRC64;
MSYIKSNLEL YQQYTAMAPK LLARISKLLM ICQNAGISVP KGIRNIFEFT WEELISDPSV
PTPSDILGLE VSFGAPLVVL MEPTFVQVPT LKKPLPPPPP APPRPVLLAT TGAAKRSTLS
PTMARQVRTH QETLNRFQQQ SIHLLTELLR LKMKAMVESM SVGANPLDIT RRFVEASQLL
HLNAKEMAFN CLISTAGRSG YSSGQLWKES LANMSAIGVN SPYQLIYHSS TACLSFSLSA
GKEAKKKIGK SRTTEDVSMP PLHRGVGTPA NSLEFSDPCP EAREKLQELC RHIEAERATW
KGRNISYPMI LRNYKAKMPS HLMLARKGDS QTPGLHYPPT AGAQTLSPTS HPSSANHHFS
QHCQEGKAPK KAFKFHYTFY DGSSFVYYPS GNVAVCQIPT CCRGRTITCL FNDIPGFSLL
ALFNTEGQGC VHYNLKTSCP YVLILDEEGG TTNDQQGYVV HKWSWTSRTE TLLSLEYKVN
EEMKLKVLGQ DSITVTFTSL NETVTLTVSA NNCPHGMAYD KRLNRRISNM DDKVYKMSRA
LAEIKKRFQK TVTQFINSIL LAAGLFTIEY PTKKEEEEFV RFKMRSRTHP ERLPKLSLYS
GESLLRSQSG HLESSIAETL KDEPESAPVS PVRKTTKIHT KAKVTSRGKA REGRSPTRWA
ALPSDCPLVL RKLMLKEDTR AGCKCLVKAP LVSDVELERF LLAPRDPSQV LVFGIISSQN
YTSTGQLQWL LNTLYNHQQR GRGSPCIQCR YDSYRLLQYD LDSPLQEDPP LMVKKNSVVQ
GMILMFAGGK LIFGGRVLNG YGLSKQNLLK QIFRSQQDYK MGYFLPDDYK FSVPNSVLSL
EDSESVKKAE SEDIQGSSSS LALEDYVEKE LSLEAEKTRE PEVELHPLSR DSKITSWKKQ
ASKK