PHTF2_HUMAN
ID PHTF2_HUMAN Reviewed; 785 AA.
AC Q8N3S3; A0JP04; A0JP05; A4D1C2; B3KQZ2; E9PEE3; G5E9H7; Q6NW35; Q8TBW4;
AC Q9H099;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Protein PHTF2 {ECO:0000305};
GN Name=PHTF2;
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] (ISOFORM 7).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
RC TISSUE=Skeletal muscle, and Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 5 AND 6).
RC TISSUE=Brain, and Skeletal muscle;
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 -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane
CC protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=1;
CC IsoId=Q8N3S3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N3S3-2; Sequence=VSP_031192;
CC Name=3;
CC IsoId=Q8N3S3-3; Sequence=VSP_031192, VSP_031193;
CC Name=4;
CC IsoId=Q8N3S3-4; Sequence=VSP_031192, VSP_031193, VSP_031194;
CC Name=5;
CC IsoId=Q8N3S3-5; Sequence=VSP_031192, VSP_046275, VSP_046276;
CC Name=6;
CC IsoId=Q8N3S3-6; Sequence=VSP_031192, VSP_031193, VSP_046275,
CC VSP_046276;
CC Name=7;
CC IsoId=Q8N3S3-7; Sequence=VSP_031192, VSP_031193, VSP_057299,
CC VSP_057300;
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; AK090643; BAG52204.1; -; mRNA.
DR EMBL; AL136883; CAB66817.1; -; mRNA.
DR EMBL; AL831969; CAD38610.1; -; mRNA.
DR EMBL; AC004955; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC004990; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC073520; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236949; EAL24195.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW77027.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW77028.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW77031.1; -; Genomic_DNA.
DR EMBL; BC022419; AAH22419.1; -; mRNA.
DR EMBL; BC067742; AAH67742.1; -; mRNA.
DR EMBL; BC127093; AAI27094.1; -; mRNA.
DR EMBL; BC127094; AAI27095.1; -; mRNA.
DR CCDS; CCDS47621.1; -. [Q8N3S3-2]
DR CCDS; CCDS47622.1; -. [Q8N3S3-3]
DR CCDS; CCDS47623.1; -. [Q8N3S3-5]
DR CCDS; CCDS47624.1; -. [Q8N3S3-6]
DR RefSeq; NP_001120829.1; NM_001127357.1. [Q8N3S3-2]
DR RefSeq; NP_001120830.1; NM_001127358.1. [Q8N3S3-3]
DR RefSeq; NP_001120831.1; NM_001127359.1. [Q8N3S3-5]
DR RefSeq; NP_001120832.1; NM_001127360.1. [Q8N3S3-6]
DR RefSeq; NP_065165.3; NM_020432.4. [Q8N3S3-3]
DR RefSeq; XP_005250565.1; XM_005250508.4. [Q8N3S3-2]
DR RefSeq; XP_005250566.1; XM_005250509.4. [Q8N3S3-2]
DR AlphaFoldDB; Q8N3S3; -.
DR BioGRID; 121413; 15.
DR IntAct; Q8N3S3; 6.
DR STRING; 9606.ENSP00000403042; -.
DR GlyGen; Q8N3S3; 3 sites.
DR iPTMnet; Q8N3S3; -.
DR PhosphoSitePlus; Q8N3S3; -.
DR BioMuta; PHTF2; -.
DR DMDM; 166987998; -.
DR EPD; Q8N3S3; -.
DR jPOST; Q8N3S3; -.
DR MassIVE; Q8N3S3; -.
DR MaxQB; Q8N3S3; -.
DR PaxDb; Q8N3S3; -.
DR PeptideAtlas; Q8N3S3; -.
DR PRIDE; Q8N3S3; -.
DR ProteomicsDB; 19870; -.
DR ProteomicsDB; 33943; -.
DR ProteomicsDB; 3570; -.
DR ProteomicsDB; 71829; -. [Q8N3S3-1]
DR ProteomicsDB; 71830; -. [Q8N3S3-2]
DR ProteomicsDB; 71831; -. [Q8N3S3-3]
DR ProteomicsDB; 71832; -. [Q8N3S3-4]
DR Antibodypedia; 53023; 79 antibodies from 16 providers.
DR DNASU; 57157; -.
DR Ensembl; ENST00000248550.7; ENSP00000248550.7; ENSG00000006576.16. [Q8N3S3-1]
DR Ensembl; ENST00000275575.11; ENSP00000275575.7; ENSG00000006576.16. [Q8N3S3-4]
DR Ensembl; ENST00000307305.12; ENSP00000307699.8; ENSG00000006576.16. [Q8N3S3-3]
DR Ensembl; ENST00000415251.6; ENSP00000408035.2; ENSG00000006576.16. [Q8N3S3-6]
DR Ensembl; ENST00000416283.6; ENSP00000400958.3; ENSG00000006576.16. [Q8N3S3-1]
DR Ensembl; ENST00000422959.6; ENSP00000403042.2; ENSG00000006576.16. [Q8N3S3-2]
DR Ensembl; ENST00000424760.5; ENSP00000403620.1; ENSG00000006576.16. [Q8N3S3-7]
DR Ensembl; ENST00000450574.5; ENSP00000387355.1; ENSG00000006576.16. [Q8N3S3-5]
DR GeneID; 57157; -.
DR KEGG; hsa:57157; -.
DR UCSC; uc003ugo.5; human. [Q8N3S3-1]
DR CTD; 57157; -.
DR DisGeNET; 57157; -.
DR GeneCards; PHTF2; -.
DR HGNC; HGNC:13411; PHTF2.
DR HPA; ENSG00000006576; Tissue enhanced (skeletal muscle, tongue).
DR neXtProt; NX_Q8N3S3; -.
DR OpenTargets; ENSG00000006576; -.
DR PharmGKB; PA33279; -.
DR VEuPathDB; HostDB:ENSG00000006576; -.
DR eggNOG; ENOG502QQGQ; Eukaryota.
DR GeneTree; ENSGT00390000011648; -.
DR HOGENOM; CLU_013937_0_0_1; -.
DR InParanoid; Q8N3S3; -.
DR OMA; MDRISCT; -.
DR OrthoDB; 710715at2759; -.
DR PhylomeDB; Q8N3S3; -.
DR TreeFam; TF323570; -.
DR PathwayCommons; Q8N3S3; -.
DR SignaLink; Q8N3S3; -.
DR BioGRID-ORCS; 57157; 7 hits in 1083 CRISPR screens.
DR ChiTaRS; PHTF2; human.
DR GeneWiki; PHTF2; -.
DR GenomeRNAi; 57157; -.
DR Pharos; Q8N3S3; Tdark.
DR PRO; PR:Q8N3S3; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8N3S3; protein.
DR Bgee; ENSG00000006576; Expressed in tibia and 204 other tissues.
DR Genevisible; Q8N3S3; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR039775; PHTF1/2.
DR InterPro; IPR021980; PHTF1/2_N.
DR PANTHER; PTHR12680; PTHR12680; 1.
DR Pfam; PF12129; Phtf-FEM1B_bdg; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..785
FT /note="Protein PHTF2"
FT /id="PRO_0000318509"
FT TRANSMEM 136..156
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 164..184
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 497..517
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 553..573
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 634..654
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 668..688
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 760..780
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 46..191
FT /note="PHTF"
FT /evidence="ECO:0000255"
FT REGION 190..239
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 304..401
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 223..239
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 305..338
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 342..360
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 376..391
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 329
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 697
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 756
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 16..49
FT /note="Missing (in isoform 2, isoform 3, isoform 4, isoform
FT 5, isoform 6 and isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_031192"
FT VAR_SEQ 69..72
FT /note="Missing (in isoform 3, isoform 4, isoform 6 and
FT isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_031193"
FT VAR_SEQ 374..390
FT /note="DAPKSGTSCSSRCSSSR -> VYTLSLSVYIRIYFICY (in isoform 5
FT and isoform 6)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046275"
FT VAR_SEQ 391..785
FT /note="Missing (in isoform 5 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046276"
FT VAR_SEQ 581..584
FT /note="RLLF -> VGIM (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_057299"
FT VAR_SEQ 585..785
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_057300"
FT VAR_SEQ 654..705
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_031194"
FT CONFLICT 3
FT /note="S -> P (in Ref. 2; CAD38610)"
FT /evidence="ECO:0000305"
FT CONFLICT Q8N3S3-5:350
FT /note="R -> H (in Ref. 6; AAH22419)"
FT /evidence="ECO:0000305"
FT CONFLICT Q8N3S3-6:346
FT /note="R -> H (in Ref. 6; AAH67742)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 785 AA; 88757 MW; F4260D28E7261126 CRC64;
MASKVTDAIV WYQKKEFLSV ATTAPGPQQV LPGYCQCSLK DQGLFIQCLI GAYDQQIWEK
SVEQREIKFI KLGLRNKPKK TAHVKPDLID VDLVRGSAFA KAKPESPWTS LTRKGIVRVV
FFPFFFRWWL QVTSKVIFFW LLVLYLLQVA AIVLFCSTSS PHSIPLTEVI GPIWLMLLLG
TVHCQIVSTR TPKPPLSTGG KRRRKLRKAA HLEVHREGDG SSTTDNTQEG AVQNHGTSTS
HSVGTVFRDL WHAAFFLSGS KKAKNSIDKS TETDNGYVSL DGKKTVKSGE DGIQNHEPQC
ETIRPEETAW NTGTLRNGPS KDTQRTITNV SDEVSSEEGP ETGYSLRRHV DRTSEGVLRN
RKSHHYKKHY PNEDAPKSGT SCSSRCSSSR QDSESARPES ETEDVLWEDL LHCAECHSSC
TSETDVENHQ INPCVKKEYR DDPFHQSHLP WLHSSHPGLE KISAIVWEGN DCKKADMSVL
EISGMIMNRV NSHIPGIGYQ IFGNAVSLIL GLTPFVFRLS QATDLEQLTA HSASELYVIA
FGSNEDVIVL SMVIISFVVR VSLVWIFFFL LCVAERTYKQ RLLFAKLFGH LTSARRARKS
EVPHFRLKKV QNIKMWLSLR SYLKRRGPQR SVDVIVSSAF LLTISVVFIC CAQLLHVHEI
FLDCHYNWEL VIWCISLTLF LLRFVTLGSE TSKKYSNTSI LLTEQINLYL KMEKKPNKKE
ELTLVNNVLK LATKLLKELD SPFRLYGLTM NPLLYNITQV VILSAVSGVI SDLLGFNLKL
WKIKS
