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CL054_HUMAN
ID   CL054_HUMAN             Reviewed;         127 AA.
AC   Q6X4T0; Q6X4S9; Q8N5S2;
DT   06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT   06-FEB-2007, sequence version 2.
DT   03-AUG-2022, entry version 105.
DE   RecName: Full=Uncharacterized protein C12orf54;
GN   Name=C12orf54; ORFNames=HSD-29, HSD-30, HSD29, HSD30;
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 VARIANT
RP   SER-86.
RC   TISSUE=Testis;
RA   Yang C.B., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.;
RT   "A new spermatogenesis-related gene.";
RL   Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q6X4T0-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q6X4T0-2; Sequence=VSP_022708, VSP_022709;
CC   -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC       premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC       decay. {ECO:0000305}.
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DR   EMBL; AY255793; AAP15250.1; -; mRNA.
DR   EMBL; AY255794; AAP15251.1; -; mRNA.
DR   EMBL; BC031670; AAH31670.1; -; mRNA.
DR   CCDS; CCDS8764.1; -. [Q6X4T0-1]
DR   RefSeq; NP_689532.1; NM_152319.3. [Q6X4T0-1]
DR   AlphaFoldDB; Q6X4T0; -.
DR   SMR; Q6X4T0; -.
DR   STRING; 9606.ENSP00000316898; -.
DR   iPTMnet; Q6X4T0; -.
DR   PhosphoSitePlus; Q6X4T0; -.
DR   BioMuta; C12orf54; -.
DR   PaxDb; Q6X4T0; -.
DR   PeptideAtlas; Q6X4T0; -.
DR   PRIDE; Q6X4T0; -.
DR   ProteomicsDB; 67780; -. [Q6X4T0-1]
DR   Antibodypedia; 49457; 45 antibodies from 11 providers.
DR   DNASU; 121273; -.
DR   Ensembl; ENST00000548364.7; ENSP00000447109.1; ENSG00000177627.11. [Q6X4T0-1]
DR   GeneID; 121273; -.
DR   KEGG; hsa:121273; -.
DR   MANE-Select; ENST00000548364.7; ENSP00000447109.1; NM_152319.4; NP_689532.1.
DR   UCSC; uc001rrr.4; human. [Q6X4T0-1]
DR   CTD; 121273; -.
DR   DisGeNET; 121273; -.
DR   GeneCards; C12orf54; -.
DR   HGNC; HGNC:28553; C12orf54.
DR   HPA; ENSG00000177627; Tissue enriched (testis).
DR   neXtProt; NX_Q6X4T0; -.
DR   OpenTargets; ENSG00000177627; -.
DR   PharmGKB; PA143485383; -.
DR   VEuPathDB; HostDB:ENSG00000177627; -.
DR   eggNOG; ENOG502RVJP; Eukaryota.
DR   GeneTree; ENSGT00390000014843; -.
DR   HOGENOM; CLU_162771_0_0_1; -.
DR   InParanoid; Q6X4T0; -.
DR   OMA; DSSMTPK; -.
DR   PhylomeDB; Q6X4T0; -.
DR   TreeFam; TF353746; -.
DR   PathwayCommons; Q6X4T0; -.
DR   BioGRID-ORCS; 121273; 10 hits in 1037 CRISPR screens.
DR   ChiTaRS; C12orf54; human.
DR   GenomeRNAi; 121273; -.
DR   Pharos; Q6X4T0; Tdark.
DR   PRO; PR:Q6X4T0; -.
DR   Proteomes; UP000005640; Chromosome 12.
DR   RNAct; Q6X4T0; protein.
DR   Bgee; ENSG00000177627; Expressed in sperm and 123 other tissues.
DR   ExpressionAtlas; Q6X4T0; baseline and differential.
DR   Genevisible; Q6X4T0; HS.
DR   InterPro; IPR031465; DUF4681.
DR   Pfam; PF15732; DUF4681; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Reference proteome.
FT   CHAIN           1..127
FT                   /note="Uncharacterized protein C12orf54"
FT                   /id="PRO_0000274305"
FT   REGION          1..34
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          64..127
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        68..82
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        94..127
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         57
FT                   /note="L -> STTDLSVQAAKARRCLTVPLRKCDNTNRKLYLLELVSARILYVVA
FT                   (in isoform 2)"
FT                   /evidence="ECO:0000303|Ref.1"
FT                   /id="VSP_022708"
FT   VAR_SEQ         58..127
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|Ref.1"
FT                   /id="VSP_022709"
FT   VARIANT         86
FT                   /note="P -> S (in dbSNP:rs11458)"
FT                   /evidence="ECO:0000269|Ref.1"
FT                   /id="VAR_030252"
SQ   SEQUENCE   127 AA;  14485 MW;  2E7E9955325DA86B CRC64;
     MAQHPCQDQE QKVEMTSKQQ RSTSIEETMR PQEKQVTITE TLWDQVLTVF KDIQKELQED
     ARIRGMSNCS MTPMTSAPRT GSIRPPDSLM TPKLRRLQFS SGEQPSGGRI HNLKTQLFSQ
     SAYYPGP
 
 
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