TM14C_HUMAN
ID TM14C_HUMAN Reviewed; 112 AA.
AC Q9P0S9; Q5T4I6;
DT 10-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Transmembrane protein 14C;
GN Name=TMEM14C; Synonyms=C6orf53; ORFNames=HSPC194;
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].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta, 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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [7]
RP STRUCTURE BY NMR.
RX PubMed=22609626; DOI=10.1038/nmeth.2033;
RA Klammt C., Maslennikov I., Bayrhuber M., Eichmann C., Vajpai N., Chiu E.J.,
RA Blain K.Y., Esquivies L., Kwon J.H., Balana B., Pieper U., Sali A.,
RA Slesinger P.A., Kwiatkowski W., Riek R., Choe S.;
RT "Facile backbone structure determination of human membrane proteins by NMR
RT spectroscopy.";
RL Nat. Methods 9:834-839(2012).
CC -!- FUNCTION: Required for normal heme biosynthesis. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9P0S9; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-2339195, EBI-11343438;
CC Q9P0S9; Q9BXK5: BCL2L13; NbExp=3; IntAct=EBI-2339195, EBI-747430;
CC Q9P0S9; Q13323: BIK; NbExp=3; IntAct=EBI-2339195, EBI-700794;
CC Q9P0S9; O00501: CLDN5; NbExp=3; IntAct=EBI-2339195, EBI-18400628;
CC Q9P0S9; P21964: COMT; NbExp=3; IntAct=EBI-2339195, EBI-372265;
CC Q9P0S9; O75208: COQ9; NbExp=3; IntAct=EBI-2339195, EBI-724524;
CC Q9P0S9; Q96BA8: CREB3L1; NbExp=5; IntAct=EBI-2339195, EBI-6942903;
CC Q9P0S9; P00387: CYB5R3; NbExp=3; IntAct=EBI-2339195, EBI-1046040;
CC Q9P0S9; Q15125: EBP; NbExp=3; IntAct=EBI-2339195, EBI-3915253;
CC Q9P0S9; A1L3X0: ELOVL7; NbExp=3; IntAct=EBI-2339195, EBI-10285373;
CC Q9P0S9; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-2339195, EBI-18304435;
CC Q9P0S9; P08034: GJB1; NbExp=3; IntAct=EBI-2339195, EBI-17565645;
CC Q9P0S9; Q5T7V8: GORAB; NbExp=3; IntAct=EBI-2339195, EBI-3917143;
CC Q9P0S9; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-2339195, EBI-13345167;
CC Q9P0S9; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-2339195, EBI-18053395;
CC Q9P0S9; Q8N6L0: KASH5; NbExp=3; IntAct=EBI-2339195, EBI-749265;
CC Q9P0S9; Q5T0T0: MARCHF8; NbExp=3; IntAct=EBI-2339195, EBI-14061946;
CC Q9P0S9; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-2339195, EBI-11956541;
CC Q9P0S9; Q8N4V1: MMGT1; NbExp=3; IntAct=EBI-2339195, EBI-6163737;
CC Q9P0S9; Q96E29: MTERF3; NbExp=3; IntAct=EBI-2339195, EBI-7825321;
CC Q9P0S9; P15941-11: MUC1; NbExp=3; IntAct=EBI-2339195, EBI-17263240;
CC Q9P0S9; Q6IBW4-4: NCAPH2; NbExp=3; IntAct=EBI-2339195, EBI-10247000;
CC Q9P0S9; Q68D85: NCR3LG1; NbExp=3; IntAct=EBI-2339195, EBI-14061804;
CC Q9P0S9; Q13113: PDZK1IP1; NbExp=3; IntAct=EBI-2339195, EBI-716063;
CC Q9P0S9; O60664: PLIN3; NbExp=3; IntAct=EBI-2339195, EBI-725795;
CC Q9P0S9; A0A0S2Z4U3: SDC3; NbExp=3; IntAct=EBI-2339195, EBI-10204280;
CC Q9P0S9; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-2339195, EBI-18159983;
CC Q9P0S9; Q8WWF3: SSMEM1; NbExp=3; IntAct=EBI-2339195, EBI-17280858;
CC Q9P0S9; Q16623: STX1A; NbExp=3; IntAct=EBI-2339195, EBI-712466;
CC Q9P0S9; P21579: SYT1; NbExp=3; IntAct=EBI-2339195, EBI-524909;
CC Q9P0S9; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-2339195, EBI-8638294;
CC Q9P0S9; Q53FP2: TMEM35A; NbExp=3; IntAct=EBI-2339195, EBI-11722971;
CC Q9P0S9; Q4KMG9: TMEM52B; NbExp=3; IntAct=EBI-2339195, EBI-18178701;
CC Q9P0S9; Q9BSE2: TMEM79; NbExp=3; IntAct=EBI-2339195, EBI-8649725;
CC Q9P0S9; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-2339195, EBI-2548832;
CC Q9P0S9; Q9Y320: TMX2; NbExp=3; IntAct=EBI-2339195, EBI-6447886;
CC Q9P0S9; Q9H7M9: VSIR; NbExp=3; IntAct=EBI-2339195, EBI-744988;
CC Q9P0S9; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-2339195, EBI-12837904;
CC Q9P0S9; Q5T4F4: ZFYVE27; NbExp=3; IntAct=EBI-2339195, EBI-3892947;
CC -!- SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000250}; Multi-pass
CC membrane protein {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the TMEM14 family. {ECO:0000305}.
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DR EMBL; AF151028; AAF36114.1; -; mRNA.
DR EMBL; AL358777; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471087; EAW55271.1; -; Genomic_DNA.
DR EMBL; BC002496; AAH02496.1; -; mRNA.
DR EMBL; BC010086; AAH10086.1; -; mRNA.
DR CCDS; CCDS4514.1; -.
DR RefSeq; NP_001158730.1; NM_001165258.1.
DR RefSeq; NP_057546.1; NM_016462.3.
DR PDB; 2LOS; NMR; -; A=1-112.
DR PDBsum; 2LOS; -.
DR AlphaFoldDB; Q9P0S9; -.
DR BMRB; Q9P0S9; -.
DR SMR; Q9P0S9; -.
DR BioGRID; 119585; 57.
DR IntAct; Q9P0S9; 47.
DR MINT; Q9P0S9; -.
DR STRING; 9606.ENSP00000444561; -.
DR TCDB; 2.A.126.1.18; the fatty acid exporter (fax) family.
DR GlyGen; Q9P0S9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9P0S9; -.
DR PhosphoSitePlus; Q9P0S9; -.
DR SwissPalm; Q9P0S9; -.
DR BioMuta; TMEM14C; -.
DR DMDM; 27734405; -.
DR EPD; Q9P0S9; -.
DR jPOST; Q9P0S9; -.
DR MassIVE; Q9P0S9; -.
DR MaxQB; Q9P0S9; -.
DR PaxDb; Q9P0S9; -.
DR PeptideAtlas; Q9P0S9; -.
DR PRIDE; Q9P0S9; -.
DR ProteomicsDB; 83594; -.
DR TopDownProteomics; Q9P0S9; -.
DR DNASU; 51522; -.
DR Ensembl; ENST00000229563.6; ENSP00000229563.5; ENSG00000111843.14.
DR Ensembl; ENST00000541412.5; ENSP00000444561.1; ENSG00000111843.14.
DR Ensembl; ENST00000642513.1; ENSP00000495127.1; ENSG00000284936.2.
DR Ensembl; ENST00000643226.2; ENSP00000495742.1; ENSG00000284936.2.
DR GeneID; 51522; -.
DR KEGG; hsa:51522; -.
DR MANE-Select; ENST00000229563.6; ENSP00000229563.5; NM_016462.4; NP_057546.1.
DR UCSC; uc003mzh.4; human.
DR CTD; 51522; -.
DR DisGeNET; 51522; -.
DR GeneCards; TMEM14C; -.
DR HGNC; HGNC:20952; TMEM14C.
DR HPA; ENSG00000111843; Low tissue specificity.
DR MIM; 615318; gene.
DR neXtProt; NX_Q9P0S9; -.
DR OpenTargets; ENSG00000111843; -.
DR PharmGKB; PA134874746; -.
DR VEuPathDB; HostDB:ENSG00000111843; -.
DR eggNOG; KOG4267; Eukaryota.
DR GeneTree; ENSGT00940000154772; -.
DR HOGENOM; CLU_096652_4_0_1; -.
DR InParanoid; Q9P0S9; -.
DR OMA; ANSHKIM; -.
DR OrthoDB; 1642026at2759; -.
DR PhylomeDB; Q9P0S9; -.
DR TreeFam; TF323345; -.
DR PathwayCommons; Q9P0S9; -.
DR SignaLink; Q9P0S9; -.
DR BioGRID-ORCS; 51522; 9 hits in 1017 CRISPR screens.
DR ChiTaRS; TMEM14C; human.
DR GenomeRNAi; 51522; -.
DR Pharos; Q9P0S9; Tdark.
DR PRO; PR:Q9P0S9; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9P0S9; protein.
DR Bgee; ENSG00000111843; Expressed in right adrenal gland cortex and 97 other tissues.
DR ExpressionAtlas; Q9P0S9; baseline and differential.
DR Genevisible; Q9P0S9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:Ensembl.
DR GO; GO:0031966; C:mitochondrial membrane; IBA:GO_Central.
DR GO; GO:0030218; P:erythrocyte differentiation; IEA:Ensembl.
DR GO; GO:0006783; P:heme biosynthetic process; IEA:UniProtKB-KW.
DR GO; GO:0006839; P:mitochondrial transport; IEA:Ensembl.
DR GO; GO:0071705; P:nitrogen compound transport; IEA:Ensembl.
DR GO; GO:0071702; P:organic substance transport; IEA:Ensembl.
DR GO; GO:0070453; P:regulation of heme biosynthetic process; IBA:GO_Central.
DR Gene3D; 1.10.10.1740; -; 1.
DR InterPro; IPR005349; TMEM14.
DR InterPro; IPR044890; TMEM14_sf.
DR PANTHER; PTHR12668; PTHR12668; 1.
DR Pfam; PF03647; Tmemb_14; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Heme biosynthesis; Membrane; Mitochondrion;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..112
FT /note="Transmembrane protein 14C"
FT /id="PRO_0000221173"
FT TRANSMEM 7..27
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 32..52
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 62..82
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 88..108
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 106
FT /note="S -> R (in dbSNP:rs1045961)"
FT /id="VAR_046947"
FT VARIANT 108
FT /note="F -> L (in dbSNP:rs1045964)"
FT /id="VAR_046948"
FT VARIANT 109
FT /note="N -> I (in dbSNP:rs1045967)"
FT /id="VAR_046949"
FT VARIANT 112
FT /note="H -> D (in dbSNP:rs1045986)"
FT /id="VAR_046950"
FT HELIX 10..29
FT /evidence="ECO:0007829|PDB:2LOS"
FT HELIX 35..52
FT /evidence="ECO:0007829|PDB:2LOS"
FT STRAND 54..57
FT /evidence="ECO:0007829|PDB:2LOS"
FT HELIX 59..74
FT /evidence="ECO:0007829|PDB:2LOS"
FT STRAND 76..78
FT /evidence="ECO:0007829|PDB:2LOS"
FT STRAND 87..89
FT /evidence="ECO:0007829|PDB:2LOS"
FT HELIX 91..104
FT /evidence="ECO:0007829|PDB:2LOS"
FT STRAND 105..107
FT /evidence="ECO:0007829|PDB:2LOS"
SQ SEQUENCE 112 AA; 11565 MW; 0C54AD12A50A96E0 CRC64;
MQDTGSVVPL HWFGFGYAAL VASGGIIGYV KAGSVPSLAA GLLFGSLAGL GAYQLSQDPR
NVWVFLATSG TLAGIMGMRF YHSGKFMPAG LIAGASLLMV AKVGVSMFNR PH
