TMM44_HUMAN
ID TMM44_HUMAN Reviewed; 475 AA.
AC Q2T9K0; A1L3V7; B7ZLZ5; B7ZLZ6; C9JJ62; E9PGA9; Q0P6F7; Q6ZT47; Q8IXR1;
AC Q8N4G3;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 22-FEB-2012, sequence version 3.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Transmembrane protein 44;
GN Name=TMEM44;
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], AND VARIANT HIS-232.
RC TISSUE=Brain;
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 GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 5), PARTIAL
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND VARIANTS ASN-24;
RP HIS-232 AND ARG-284.
RC TISSUE=Brain, Cerebellum, Fetal brain, Skin, and Uterus;
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 [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-465, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- INTERACTION:
CC Q2T9K0-2; O95471: CLDN7; NbExp=3; IntAct=EBI-13076526, EBI-740744;
CC Q2T9K0-2; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-13076526, EBI-18535450;
CC Q2T9K0-2; Q8N2U9: SLC66A2; NbExp=3; IntAct=EBI-13076526, EBI-3907610;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q2T9K0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2T9K0-2; Sequence=VSP_024565;
CC Name=3;
CC IsoId=Q2T9K0-4; Sequence=VSP_024565, VSP_024569, VSP_024571;
CC Name=4;
CC IsoId=Q2T9K0-6; Sequence=VSP_024565, VSP_039211;
CC Name=5;
CC IsoId=Q2T9K0-7; Sequence=VSP_024565, VSP_046357;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH34353.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC86747.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};
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DR EMBL; AK126914; BAC86747.1; ALT_SEQ; mRNA.
DR EMBL; AC046143; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC034353; AAH34353.1; ALT_INIT; mRNA.
DR EMBL; BC014883; AAH14883.1; -; mRNA.
DR EMBL; BC111485; AAI11486.1; -; mRNA.
DR EMBL; BC130297; AAI30298.1; -; mRNA.
DR EMBL; BC144158; AAI44159.1; -; mRNA.
DR EMBL; BC144159; AAI44160.1; -; mRNA.
DR CCDS; CCDS3308.2; -. [Q2T9K0-7]
DR CCDS; CCDS33921.1; -. [Q2T9K0-2]
DR CCDS; CCDS54698.1; -. [Q2T9K0-4]
DR CCDS; CCDS54699.1; -. [Q2T9K0-1]
DR RefSeq; NP_001011655.1; NM_001011655.2. [Q2T9K0-2]
DR RefSeq; NP_001159777.1; NM_001166305.1. [Q2T9K0-1]
DR RefSeq; NP_001159778.1; NM_001166306.1. [Q2T9K0-4]
DR RefSeq; NP_612408.3; NM_138399.4. [Q2T9K0-7]
DR RefSeq; XP_005269428.1; XM_005269371.4. [Q2T9K0-6]
DR AlphaFoldDB; Q2T9K0; -.
DR BioGRID; 125003; 15.
DR IntAct; Q2T9K0; 7.
DR MINT; Q2T9K0; -.
DR STRING; 9606.ENSP00000376227; -.
DR iPTMnet; Q2T9K0; -.
DR PhosphoSitePlus; Q2T9K0; -.
DR BioMuta; TMEM44; -.
DR DMDM; 378405227; -.
DR EPD; Q2T9K0; -.
DR jPOST; Q2T9K0; -.
DR MassIVE; Q2T9K0; -.
DR MaxQB; Q2T9K0; -.
DR PaxDb; Q2T9K0; -.
DR PeptideAtlas; Q2T9K0; -.
DR PRIDE; Q2T9K0; -.
DR ProteomicsDB; 20275; -.
DR ProteomicsDB; 61447; -. [Q2T9K0-1]
DR ProteomicsDB; 61448; -. [Q2T9K0-2]
DR ProteomicsDB; 61449; -. [Q2T9K0-4]
DR ProteomicsDB; 61450; -. [Q2T9K0-6]
DR Antibodypedia; 50183; 41 antibodies from 11 providers.
DR DNASU; 93109; -.
DR Ensembl; ENST00000347147.9; ENSP00000333355.6; ENSG00000145014.18. [Q2T9K0-2]
DR Ensembl; ENST00000381975.7; ENSP00000371402.3; ENSG00000145014.18. [Q2T9K0-4]
DR Ensembl; ENST00000392432.6; ENSP00000376227.2; ENSG00000145014.18. [Q2T9K0-1]
DR Ensembl; ENST00000473092.5; ENSP00000418674.1; ENSG00000145014.18. [Q2T9K0-7]
DR GeneID; 93109; -.
DR KEGG; hsa:93109; -.
DR MANE-Select; ENST00000347147.9; ENSP00000333355.6; NM_001011655.3; NP_001011655.1. [Q2T9K0-2]
DR UCSC; uc003fue.4; human. [Q2T9K0-1]
DR CTD; 93109; -.
DR DisGeNET; 93109; -.
DR GeneCards; TMEM44; -.
DR HGNC; HGNC:25120; TMEM44.
DR HPA; ENSG00000145014; Low tissue specificity.
DR neXtProt; NX_Q2T9K0; -.
DR OpenTargets; ENSG00000145014; -.
DR PharmGKB; PA134916107; -.
DR VEuPathDB; HostDB:ENSG00000145014; -.
DR eggNOG; ENOG502RRA0; Eukaryota.
DR GeneTree; ENSGT00390000018718; -.
DR HOGENOM; CLU_053989_0_0_1; -.
DR InParanoid; Q2T9K0; -.
DR OMA; RKVCLKE; -.
DR OrthoDB; 657466at2759; -.
DR PhylomeDB; Q2T9K0; -.
DR TreeFam; TF337424; -.
DR PathwayCommons; Q2T9K0; -.
DR SignaLink; Q2T9K0; -.
DR BioGRID-ORCS; 93109; 16 hits in 1078 CRISPR screens.
DR ChiTaRS; TMEM44; human.
DR GenomeRNAi; 93109; -.
DR Pharos; Q2T9K0; Tdark.
DR PRO; PR:Q2T9K0; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q2T9K0; protein.
DR Bgee; ENSG00000145014; Expressed in mucosa of transverse colon and 128 other tissues.
DR ExpressionAtlas; Q2T9K0; baseline and differential.
DR Genevisible; Q2T9K0; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..475
FT /note="Transmembrane protein 44"
FT /id="PRO_0000284544"
FT TOPO_DOM 1..29
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 30..50
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 51..61
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 62..82
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 83..88
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 89..109
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 110..135
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 136..156
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 157..179
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 180..200
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 201..259
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 260..280
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 281..294
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 295..315
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 316..475
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 390..475
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 392..407
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 421..436
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 465
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 205..251
FT /note="Missing (in isoform 2, isoform 3, isoform 4 and
FT isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024565"
FT VAR_SEQ 388..443
FT /note="GCSATRLPGDGQTSAGDASLQDPPSYPPVQVIRARVSSGSSSEVSSINSDLE
FT WDPE -> AVPPGCQVTGRRAPEMRPCRTPRRTLPFRSSGPGCLPAAPLRSPPSTPTWS
FT GTLKM (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024569"
FT VAR_SEQ 439
FT /note="E -> EQKYWEALNSEQ (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_039211"
FT VAR_SEQ 439
FT /note="E -> EKYWEALNSEQ (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046357"
FT VAR_SEQ 444..475
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024571"
FT VARIANT 24
FT /note="H -> N (in dbSNP:rs1675955)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031775"
FT VARIANT 232
FT /note="R -> H (in dbSNP:rs12695036)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_066998"
FT VARIANT 284
FT /note="Q -> R (in dbSNP:rs922282)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_066999"
SQ SEQUENCE 475 AA; 52201 MW; 18278671EDCFBDB9 CRC64;
MGEAPSPAPA LWDWDYLDRC FARHRVCISF GLWICASSCW IAAHALLLYL RCAQKPRQDQ
SALCAACCLL TSLCDTVGAL LARQLTIQVF TGAYLAAIDL VNFMFILFPV CGSKFKSNSD
REARERKRRR QLRASVFALA LPLSLGPCWA LWVAVPKASA TIRGPQRRLL ASLLQENTEI
LGYLLGSVAA FGSWASRIPP LSRIAPPPTL GITTQHEIWR GQMSKPSQSP SRSPSGHWRA
AAQRQVLGTE MCRGKTFPSI HLWTRLLSAL AGLLYASAIV AHDQHPEYLL RATPWFLTSL
GRAALDLAII FLSCVMKSKM RQALGFAKEA RESPDTQALL TCAEKEEENQ ENLDWVPLTT
LSHCKSLRTM TAISRYMELT IEPVQQAGCS ATRLPGDGQT SAGDASLQDP PSYPPVQVIR
ARVSSGSSSE VSSINSDLEW DPEDVNLEGS KENVELLGSQ VHQDSVRTAH LSDDD
