CI057_HUMAN
ID CI057_HUMAN Reviewed; 161 AA.
AC Q5W0N0; A1L456;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Uncharacterized protein C9orf57;
GN Name=C9orf57;
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 GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Testis;
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 -!- INTERACTION:
CC Q5W0N0-2; Q9Y4H4: GPSM3; NbExp=3; IntAct=EBI-18101667, EBI-347538;
CC Q5W0N0-2; P78337: PITX1; NbExp=3; IntAct=EBI-18101667, EBI-748265;
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=Q5W0N0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5W0N0-2; Sequence=VSP_056909;
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DR EMBL; AL138751; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL583829; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC044620; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC130404; AAI30405.1; -; mRNA.
DR EMBL; BC144273; AAI44274.1; -; mRNA.
DR RefSeq; NP_001122090.1; NM_001128618.1.
DR AlphaFoldDB; Q5W0N0; -.
DR BioGRID; 126506; 2.
DR IntAct; Q5W0N0; 2.
DR STRING; 9606.ENSP00000366223; -.
DR BioMuta; C9orf57; -.
DR DMDM; 74747958; -.
DR MassIVE; Q5W0N0; -.
DR PaxDb; Q5W0N0; -.
DR PeptideAtlas; Q5W0N0; -.
DR PRIDE; Q5W0N0; -.
DR Antibodypedia; 49709; 73 antibodies from 11 providers.
DR DNASU; 138240; -.
DR Ensembl; ENST00000377024.8; ENSP00000366223.3; ENSG00000204669.11. [Q5W0N0-1]
DR Ensembl; ENST00000424431.3; ENSP00000412956.2; ENSG00000204669.11. [Q5W0N0-2]
DR GeneID; 138240; -.
DR KEGG; hsa:138240; -.
DR UCSC; uc004aip.4; human. [Q5W0N0-1]
DR CTD; 138240; -.
DR GeneCards; C9orf57; -.
DR HGNC; HGNC:27037; C9orf57.
DR HPA; ENSG00000204669; Tissue enriched (testis).
DR neXtProt; NX_Q5W0N0; -.
DR OpenTargets; ENSG00000204669; -.
DR PharmGKB; PA134955143; -.
DR VEuPathDB; HostDB:ENSG00000204669; -.
DR eggNOG; ENOG502RU2K; Eukaryota.
DR GeneTree; ENSGT00410000028408; -.
DR HOGENOM; CLU_139240_0_0_1; -.
DR InParanoid; Q5W0N0; -.
DR OrthoDB; 1515405at2759; -.
DR PhylomeDB; Q5W0N0; -.
DR TreeFam; TF343601; -.
DR PathwayCommons; Q5W0N0; -.
DR SignaLink; Q5W0N0; -.
DR BioGRID-ORCS; 138240; 10 hits in 1015 CRISPR screens.
DR GenomeRNAi; 138240; -.
DR Pharos; Q5W0N0; Tdark.
DR PRO; PR:Q5W0N0; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5W0N0; protein.
DR Bgee; ENSG00000204669; Expressed in right testis and 17 other tissues.
DR ExpressionAtlas; Q5W0N0; baseline and differential.
DR Genevisible; Q5W0N0; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR031710; DUF4723.
DR Pfam; PF15851; DUF4723; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..161
FT /note="Uncharacterized protein C9orf57"
FT /id="PRO_0000227549"
FT TRANSMEM 30..50
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..54
FT /note="MKKIEISGTCLSFHLLFGLEIRMRRIVFAGVILFRLLGVILFRLLGVILFGR
FT LG -> MGVGFTELEYLAPWLRPPFS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056909"
SQ SEQUENCE 161 AA; 18115 MW; AD2470442D4FB85A CRC64;
MKKIEISGTC LSFHLLFGLE IRMRRIVFAG VILFRLLGVI LFRLLGVILF GRLGDLGTCQ
TKPGQYWKEE VHIQDVGGLI CRACNLSLPF HGCLLDLGTC QAEPGQYCKE EVHIQGGIQW
YSVKGCTKNT SECFKSTLVK RILQLHELVT THCCNHSLCN F
