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