CA043_HUMAN
ID CA043_HUMAN Reviewed; 253 AA.
AC Q9BWL3; A8K3G8; D3DV72; D3DV74; Q5M801; Q5VU73; Q5VU83; Q96HP7; Q9UFU2;
AC Q9UGL7; Q9UGL8; Q9Y2R6;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Protein C1orf43;
DE AltName: Full=Hepatitis C virus NS5A-transactivated protein 4 {ECO:0000303|Ref.3};
DE Short=HCV NS5A-transactivated protein 4 {ECO:0000303|Ref.3};
DE AltName: Full=Protein NICE-3;
DE AltName: Full=S863-3;
GN Name=C1orf43; Synonyms=NICE3, NS5ATP4 {ECO:0000303|Ref.3};
GN ORFNames=HSPC012;
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 2 AND 4), AND NUCLEOTIDE SEQUENCE
RP [MRNA] OF 37-253 (ISOFORM 1).
RC TISSUE=Keratinocyte;
RX PubMed=11230159; DOI=10.1101/gr.114801;
RA Marenholz I., Zirra M., Fischer D.F., Backendorf C., Ziegler A.,
RA Mischke D.;
RT "Identification of human epidermal differentiation complex (EDC)-encoded
RT genes by subtractive hybridization of entire YACs to a gridded keratinocyte
RT cDNA library.";
RL Genome Res. 11:341-355(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Aorta;
RA Liu B., Zhao B., Wang X.Y., Xu Y.Y., Liu Y.Q., Song L., Ye J., Sheng H.,
RA Gao Y., Zhang C.L., Wei Y.J., Zhang J., Song L., Jiang Y.X., Zhao Z.W.,
RA Ding J.F., Liu L.S., Gao R.L., Wu Q.Y., Qiang B.Q., Yuan J.G., Liew C.C.,
RA Zhao M.S., Hui R.T.;
RL Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Liu Y., Cheng J., Wang G., Wang J., Zhang L., Chen J., Li L.;
RT "Cloning and identification of human gene 4 transactivated by hepatitis C
RT virus NS5A protein.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [8]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 5).
RC TISSUE=Brain, Cervix, Kidney, Lung, and Skin;
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 [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 53-253 (ISOFORM 1).
RC TISSUE=Uterus;
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 [11]
RP FUNCTION, SUBCELLULAR LOCATION, AND DOMAIN.
RX PubMed=31540829; DOI=10.1016/j.chom.2019.08.017;
RA Jeng E.E., Bhadkamkar V., Ibe N.U., Gause H., Jiang L., Chan J., Jian R.,
RA Jimenez-Morales D., Stevenson E., Krogan N.J., Swaney D.L., Snyder M.P.,
RA Mukherjee S., Bassik M.C.;
RT "Systematic Identification of Host Cell Regulators of Legionella
RT pneumophila Pathogenesis Using a Genome-wide CRISPR Screen.";
RL Cell Host Microbe 26:551.E6-563.E6(2019).
CC -!- FUNCTION: General regulator of phagocytosis. Required to uptake Gram
CC negative bacterium by macrophages. {ECO:0000269|PubMed:31540829}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}. Golgi apparatus {ECO:0000269|PubMed:31540829}.
CC Mitochondrion {ECO:0000269|PubMed:31540829}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q9BWL3-1; Sequence=Displayed;
CC Name=2; Synonyms=Nice-3;
CC IsoId=Q9BWL3-2; Sequence=VSP_014417;
CC Name=3;
CC IsoId=Q9BWL3-3; Sequence=VSP_014421;
CC Name=4;
CC IsoId=Q9BWL3-4; Sequence=VSP_014417, VSP_014418;
CC Name=5;
CC IsoId=Q9BWL3-5; Sequence=VSP_014418, VSP_014419, VSP_014420;
CC -!- DOMAIN: N-terminal region is required for phagocytosis of Gram negative
CC bacterium. {ECO:0000269|PubMed:31540829}.
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DR EMBL; AJ243663; CAB65094.1; -; mRNA.
DR EMBL; AJ243664; CAB65095.1; -; mRNA.
DR EMBL; AJ243665; CAB65096.1; -; mRNA.
DR EMBL; AF109185; AAQ13494.1; -; mRNA.
DR EMBL; AF529365; AAQ09599.1; -; mRNA.
DR EMBL; AF077036; AAD27769.1; -; mRNA.
DR EMBL; AK290583; BAF83272.1; -; mRNA.
DR EMBL; CR457131; CAG33412.1; -; mRNA.
DR EMBL; AL590431; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW53221.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53223.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53224.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53226.1; -; Genomic_DNA.
DR EMBL; BC000152; AAH00152.1; -; mRNA.
DR EMBL; BC001377; AAH01377.1; -; mRNA.
DR EMBL; BC006514; AAH06514.1; -; mRNA.
DR EMBL; BC008306; AAH08306.1; -; mRNA.
DR EMBL; BC014391; AAH14391.1; -; mRNA.
DR EMBL; BC088353; AAH88353.1; -; mRNA.
DR EMBL; AL117463; CAB55939.2; -; mRNA.
DR CCDS; CCDS1061.1; -. [Q9BWL3-2]
DR CCDS; CCDS1062.1; -. [Q9BWL3-4]
DR CCDS; CCDS41404.1; -. [Q9BWL3-1]
DR CCDS; CCDS76220.1; -. [Q9BWL3-3]
DR PIR; T17249; T17249.
DR RefSeq; NP_001092086.1; NM_001098616.2. [Q9BWL3-1]
DR RefSeq; NP_001284646.1; NM_001297717.1. [Q9BWL3-5]
DR RefSeq; NP_001284647.1; NM_001297718.1.
DR RefSeq; NP_001284649.1; NM_001297720.1.
DR RefSeq; NP_001284650.1; NM_001297721.1.
DR RefSeq; NP_001284652.1; NM_001297723.1. [Q9BWL3-3]
DR RefSeq; NP_056264.1; NM_015449.3. [Q9BWL3-2]
DR RefSeq; NP_620077.1; NM_138740.3. [Q9BWL3-4]
DR AlphaFoldDB; Q9BWL3; -.
DR SMR; Q9BWL3; -.
DR BioGRID; 117416; 95.
DR IntAct; Q9BWL3; 29.
DR MINT; Q9BWL3; -.
DR STRING; 9606.ENSP00000357507; -.
DR iPTMnet; Q9BWL3; -.
DR PhosphoSitePlus; Q9BWL3; -.
DR BioMuta; C1orf43; -.
DR DMDM; 68565268; -.
DR EPD; Q9BWL3; -.
DR jPOST; Q9BWL3; -.
DR MassIVE; Q9BWL3; -.
DR MaxQB; Q9BWL3; -.
DR PaxDb; Q9BWL3; -.
DR PeptideAtlas; Q9BWL3; -.
DR PRIDE; Q9BWL3; -.
DR ProteomicsDB; 79287; -. [Q9BWL3-1]
DR ProteomicsDB; 79288; -. [Q9BWL3-2]
DR ProteomicsDB; 79289; -. [Q9BWL3-3]
DR ProteomicsDB; 79290; -. [Q9BWL3-4]
DR ProteomicsDB; 79291; -. [Q9BWL3-5]
DR Antibodypedia; 2492; 69 antibodies from 15 providers.
DR DNASU; 25912; -.
DR Ensembl; ENST00000350592.7; ENSP00000271925.5; ENSG00000143612.21. [Q9BWL3-2]
DR Ensembl; ENST00000362076.8; ENSP00000354496.4; ENSG00000143612.21. [Q9BWL3-4]
DR Ensembl; ENST00000368518.5; ENSP00000357504.1; ENSG00000143612.21. [Q9BWL3-3]
DR Ensembl; ENST00000368521.10; ENSP00000357507.4; ENSG00000143612.21. [Q9BWL3-1]
DR GeneID; 25912; -.
DR KEGG; hsa:25912; -.
DR MANE-Select; ENST00000368521.10; ENSP00000357507.4; NM_001098616.3; NP_001092086.1.
DR UCSC; uc001feg.3; human. [Q9BWL3-1]
DR CTD; 25912; -.
DR DisGeNET; 25912; -.
DR GeneCards; C1orf43; -.
DR HGNC; HGNC:29876; C1orf43.
DR HPA; ENSG00000143612; Low tissue specificity.
DR MIM; 617428; gene.
DR neXtProt; NX_Q9BWL3; -.
DR OpenTargets; ENSG00000143612; -.
DR PharmGKB; PA134961848; -.
DR VEuPathDB; HostDB:ENSG00000143612; -.
DR eggNOG; ENOG502QUKH; Eukaryota.
DR GeneTree; ENSGT00510000047366; -.
DR HOGENOM; CLU_068266_0_0_1; -.
DR InParanoid; Q9BWL3; -.
DR OMA; QHAKVNM; -.
DR OrthoDB; 1581753at2759; -.
DR PhylomeDB; Q9BWL3; -.
DR TreeFam; TF324880; -.
DR PathwayCommons; Q9BWL3; -.
DR SignaLink; Q9BWL3; -.
DR BioGRID-ORCS; 25912; 17 hits in 1069 CRISPR screens.
DR ChiTaRS; C1orf43; human.
DR GenomeRNAi; 25912; -.
DR Pharos; Q9BWL3; Tbio.
DR PRO; PR:Q9BWL3; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9BWL3; protein.
DR Bgee; ENSG00000143612; Expressed in left ventricle myocardium and 189 other tissues.
DR ExpressionAtlas; Q9BWL3; baseline and differential.
DR Genevisible; Q9BWL3; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
DR GO; GO:0006909; P:phagocytosis; IMP:UniProtKB.
DR InterPro; IPR010876; C1orf43.
DR PANTHER; PTHR21425; PTHR21425; 1.
DR Pfam; PF07406; NICE-3; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Golgi apparatus; Membrane; Mitochondrion;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..253
FT /note="Protein C1orf43"
FT /id="PRO_0000089256"
FT TRANSMEM 11..31
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 23..56
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:11042152,
FT ECO:0000303|PubMed:11230159, ECO:0000303|PubMed:15489334,
FT ECO:0000303|Ref.6"
FT /id="VSP_014417"
FT VAR_SEQ 96..114
FT /note="SCYNYLYRMKALDAIRTSE -> K (in isoform 4 and isoform
FT 5)"
FT /evidence="ECO:0000303|PubMed:11230159,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_014418"
FT VAR_SEQ 170
FT /note="V -> G (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014419"
FT VAR_SEQ 171..253
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014420"
FT VAR_SEQ 190..253
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_014421"
FT CONFLICT 39
FT /note="A -> V (in Ref. 1; CAB65096)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 253 AA; 28779 MW; 0C8117E25C660C76 CRC64;
MASGSNWLSG VNVVLVMAYG SLVFVLLFIF VKRQIMRFAM KSRRGPHVPV GHNAPKDLKE
EIDIRLSRVQ DIKYEPQLLA DDDARLLQLE TQGNQSCYNY LYRMKALDAI RTSEIPFHSE
GRHPRSLMGK NFRSYLLDLR NTSTPFKGVR KALIDTLLDG YETARYGTGV FGQNEYLRYQ
EALSELATAV KARIGSSQRH HQSAAKDLTQ SPEVSPTTIQ VTYLPSSQKS KRAKHFLELK
SFKDNYNTLE STL
