TM125_HUMAN
ID TM125_HUMAN Reviewed; 219 AA.
AC Q96AQ2; D3DPX1;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Transmembrane protein 125;
GN Name=TMEM125;
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].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
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 [3]
RP VARIANT [LARGE SCALE ANALYSIS] LEU-107.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; CH471059; EAX07110.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX07111.1; -; Genomic_DNA.
DR EMBL; BC016858; AAH16858.1; -; mRNA.
DR CCDS; CCDS480.1; -.
DR RefSeq; NP_001307173.1; NM_001320244.1.
DR RefSeq; NP_653227.1; NM_144626.2.
DR RefSeq; XP_005270524.1; XM_005270467.3.
DR RefSeq; XP_011539007.1; XM_011540705.2.
DR AlphaFoldDB; Q96AQ2; -.
DR STRING; 9606.ENSP00000429275; -.
DR iPTMnet; Q96AQ2; -.
DR PhosphoSitePlus; Q96AQ2; -.
DR BioMuta; TMEM125; -.
DR DMDM; 74731141; -.
DR MassIVE; Q96AQ2; -.
DR PaxDb; Q96AQ2; -.
DR PeptideAtlas; Q96AQ2; -.
DR PRIDE; Q96AQ2; -.
DR ProteomicsDB; 75986; -.
DR Antibodypedia; 18202; 35 antibodies from 10 providers.
DR DNASU; 128218; -.
DR Ensembl; ENST00000432792.6; ENSP00000429275.1; ENSG00000179178.11.
DR Ensembl; ENST00000439858.6; ENSP00000429775.1; ENSG00000179178.11.
DR GeneID; 128218; -.
DR KEGG; hsa:128218; -.
DR MANE-Select; ENST00000439858.6; ENSP00000429775.1; NM_144626.3; NP_653227.1.
DR UCSC; uc001cir.4; human.
DR CTD; 128218; -.
DR DisGeNET; 128218; -.
DR GeneCards; TMEM125; -.
DR HGNC; HGNC:28275; TMEM125.
DR HPA; ENSG00000179178; Tissue enhanced (lung, pancreas).
DR neXtProt; NX_Q96AQ2; -.
DR OpenTargets; ENSG00000179178; -.
DR PharmGKB; PA143485644; -.
DR VEuPathDB; HostDB:ENSG00000179178; -.
DR eggNOG; ENOG502S0IK; Eukaryota.
DR GeneTree; ENSGT00390000003015; -.
DR HOGENOM; CLU_118850_0_0_1; -.
DR InParanoid; Q96AQ2; -.
DR OMA; EHVELWW; -.
DR OrthoDB; 1443352at2759; -.
DR PhylomeDB; Q96AQ2; -.
DR TreeFam; TF332758; -.
DR PathwayCommons; Q96AQ2; -.
DR BioGRID-ORCS; 128218; 10 hits in 1063 CRISPR screens.
DR ChiTaRS; TMEM125; human.
DR GenomeRNAi; 128218; -.
DR Pharos; Q96AQ2; Tdark.
DR PRO; PR:Q96AQ2; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q96AQ2; protein.
DR Bgee; ENSG00000179178; Expressed in ileal mucosa and 144 other tissues.
DR ExpressionAtlas; Q96AQ2; baseline and differential.
DR Genevisible; Q96AQ2; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR028165; TMEM125.
DR PANTHER; PTHR31416; PTHR31416; 1.
DR Pfam; PF15109; TMEM125; 1.
PE 2: Evidence at transcript level;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..219
FT /note="Transmembrane protein 125"
FT /id="PRO_0000251716"
FT TRANSMEM 36..56
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 68..88
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 114..134
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 147..167
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 107
FT /note="R -> L (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035669"
FT VARIANT 112
FT /note="A -> D (in dbSNP:rs35880191)"
FT /id="VAR_051428"
SQ SEQUENCE 219 AA; 22172 MW; 868D23D63AD804A0 CRC64;
MSEQEAQAPG GRGLPPDMLA EQVELWWSQQ PRRSALCFVV AVGLVAGCGA GGVALLSTTS
SRSGEWRLAT GTVLCLLALL VLVKQLMSSA VQDMNCIRQA HHVALLRSGG GADALVVLLS
GLVLLVTGLT LAGLAAAPAP ARPLAAMLSV GIALAALGSL LLLGLLLYQV GVSGHCPSIC
MATPSTHSGH GGHGSIFSIS GQLSAGRRHE TTSSIASLI
