MAL2_HUMAN
ID MAL2_HUMAN Reviewed; 176 AA.
AC Q969L2; B2R520; Q6ZMD9;
DT 27-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Protein MAL2;
GN Name=MAL2;
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 [MRNA], TISSUE SPECIFICITY, AND INTERACTION WITH
RP TPD52L2.
RX PubMed=11549320; DOI=10.1006/geno.2001.6610;
RA Wilson S.H.D., Bailey A.M., Nourse C.R., Mattei M.-G., Byrne J.A.;
RT "Identification of MAL2, a novel member of the mal proteolipid family,
RT though interactions with TPD52-like proteins in the yeast two-hybrid
RT system.";
RL Genomics 76:81-88(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [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=Ovary;
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 FUNCTION, SUBCELLULAR LOCATION, AND GLYCOSYLATION AT ASN-132.
RX PubMed=12370246; DOI=10.1083/jcb.200206033;
RA de Marco M.C., Martin-Belmonte F., Kremer L., Albar J.P., Correas I.,
RA Vaerman J.P., Marazuela M., Byrne J.A., Alonso M.A.;
RT "MAL2, a novel raft protein of the MAL family, is an essential component of
RT the machinery for transcytosis in hepatoma HepG2 cells.";
RL J. Cell Biol. 159:37-44(2002).
RN [6]
RP TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=14576188; DOI=10.1210/en.2003-0652;
RA Marazuela M., Martin-Belmonte F., Garcia-Lopez M.A., Aranda J.F.,
RA de Marco M.C., Alonso M.A.;
RT "Expression and distribution of MAL2, an essential element of the machinery
RT for basolateral-to-apical transcytosis, in human thyroid epithelial
RT cells.";
RL Endocrinology 145:1011-1016(2004).
RN [7]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-132.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of multiple
RT enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
CC -!- FUNCTION: Member of the machinery of polarized transport. Required for
CC the indirect transcytotic route at the step of the egress of the
CC transcytosing cargo from perinuclear endosomes in order for it to
CC travel to the apical surface via a raft-dependent pathway.
CC {ECO:0000269|PubMed:12370246}.
CC -!- SUBUNIT: Interacts with TPD52L2. {ECO:0000269|PubMed:11549320}.
CC -!- INTERACTION:
CC Q969L2; Q13520: AQP6; NbExp=3; IntAct=EBI-944295, EBI-13059134;
CC Q969L2; P53365: ARFIP2; NbExp=6; IntAct=EBI-944295, EBI-638194;
CC Q969L2; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-944295, EBI-11343438;
CC Q969L2; O15342: ATP6V0E1; NbExp=3; IntAct=EBI-944295, EBI-12935759;
CC Q969L2; P55212: CASP6; NbExp=3; IntAct=EBI-944295, EBI-718729;
CC Q969L2; O95971: CD160; NbExp=3; IntAct=EBI-944295, EBI-4314390;
CC Q969L2; P34810: CD68; NbExp=3; IntAct=EBI-944295, EBI-2826276;
CC Q969L2; Q8NI60: COQ8A; NbExp=5; IntAct=EBI-944295, EBI-745535;
CC Q969L2; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-944295, EBI-6942903;
CC Q969L2; Q5VYK3: ECPAS; NbExp=5; IntAct=EBI-944295, EBI-521451;
CC Q969L2; Q9BU27: FAM3A; NbExp=3; IntAct=EBI-944295, EBI-10298603;
CC Q969L2; A0A0S2Z4D9: GAD1; NbExp=3; IntAct=EBI-944295, EBI-16430771;
CC Q969L2; Q99259: GAD1; NbExp=6; IntAct=EBI-944295, EBI-743184;
CC Q969L2; Q05329: GAD2; NbExp=6; IntAct=EBI-944295, EBI-9304251;
CC Q969L2; P08034: GJB1; NbExp=3; IntAct=EBI-944295, EBI-17565645;
CC Q969L2; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-944295, EBI-13345167;
CC Q969L2; Q9UBD0: HSFX2; NbExp=3; IntAct=EBI-944295, EBI-947253;
CC Q969L2; P13473-2: LAMP2; NbExp=3; IntAct=EBI-944295, EBI-21591415;
CC Q969L2; Q9NQG6: MIEF1; NbExp=3; IntAct=EBI-944295, EBI-740987;
CC Q969L2; Q6IN84: MRM1; NbExp=3; IntAct=EBI-944295, EBI-5454865;
CC Q969L2; Q96E29: MTERF3; NbExp=3; IntAct=EBI-944295, EBI-7825321;
CC Q969L2; P15941-11: MUC1; NbExp=3; IntAct=EBI-944295, EBI-17263240;
CC Q969L2; Q9HB07: MYG1; NbExp=3; IntAct=EBI-944295, EBI-709754;
CC Q969L2; Q9ULP0-2: NDRG4; NbExp=8; IntAct=EBI-944295, EBI-11978907;
CC Q969L2; Q8NET5: NFAM1; NbExp=3; IntAct=EBI-944295, EBI-11990542;
CC Q969L2; Q5JS98: PBX3; NbExp=3; IntAct=EBI-944295, EBI-10244393;
CC Q969L2; Q96AL5: PBX3; NbExp=3; IntAct=EBI-944295, EBI-741171;
CC Q969L2; Q9BSJ6: PIMREG; NbExp=3; IntAct=EBI-944295, EBI-2568609;
CC Q969L2; Q9UKF7-2: PITPNC1; NbExp=3; IntAct=EBI-944295, EBI-14223623;
CC Q969L2; Q9UGP5-2: POLL; NbExp=3; IntAct=EBI-944295, EBI-10320765;
CC Q969L2; P43378: PTPN9; NbExp=4; IntAct=EBI-944295, EBI-742898;
CC Q969L2; Q6IQ43: PTPN9; NbExp=3; IntAct=EBI-944295, EBI-10250413;
CC Q969L2; Q96AX2: RAB37; NbExp=3; IntAct=EBI-944295, EBI-748121;
CC Q969L2; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-944295, EBI-7545592;
CC Q969L2; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-944295, EBI-10192441;
CC Q969L2; A8MRB1: S100B; NbExp=3; IntAct=EBI-944295, EBI-16432654;
CC Q969L2; Q9NY72: SCN3B; NbExp=3; IntAct=EBI-944295, EBI-17247926;
CC Q969L2; O00141: SGK1; NbExp=3; IntAct=EBI-944295, EBI-1042854;
CC Q969L2; Q6FGM0: SH3GL1; NbExp=3; IntAct=EBI-944295, EBI-10173690;
CC Q969L2; Q99961: SH3GL1; NbExp=5; IntAct=EBI-944295, EBI-697911;
CC Q969L2; Q9Y371: SH3GLB1; NbExp=6; IntAct=EBI-944295, EBI-2623095;
CC Q969L2; P34897: SHMT2; NbExp=3; IntAct=EBI-944295, EBI-352908;
CC Q969L2; Q9NQQ7-3: SLC35C2; NbExp=3; IntAct=EBI-944295, EBI-17295964;
CC Q969L2; Q9P2R7: SUCLA2; NbExp=3; IntAct=EBI-944295, EBI-2269898;
CC Q969L2; Q9BW92: TARS2; NbExp=3; IntAct=EBI-944295, EBI-1045099;
CC Q969L2; Q969Z0: TBRG4; NbExp=3; IntAct=EBI-944295, EBI-702328;
CC Q969L2; Q8WY91: THAP4; NbExp=5; IntAct=EBI-944295, EBI-726691;
CC Q969L2; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-944295, EBI-8638294;
CC Q969L2; P49638: TTPA; NbExp=5; IntAct=EBI-944295, EBI-10210710;
CC Q969L2; Q5SU16: TUBB; NbExp=3; IntAct=EBI-944295, EBI-10245038;
CC Q969L2; Q5ST30-3: VARS2; NbExp=3; IntAct=EBI-944295, EBI-10244969;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC Apical cell membrane; Multi-pass membrane protein. Endomembrane system.
CC Cytoplasm, perinuclear region. Note=Associated with lipid rafts. In
CC polarized epithelial cells, restricted to the apical surface. In
CC hepatocytes, as well as in polarized hepatoma Hep-G2 cells, found in
CC the canalicular membrane, equivalent to the apical surface, beneath the
CC canalicular actin cytoskeleton. In non-polarized Hep-G2 cells,
CC distributed to the perinuclear region.
CC -!- TISSUE SPECIFICITY: Predominantly expressed in kidney, lung, and liver.
CC Also found in thyroid gland, stomach and, at lower levels in testis and
CC small intestine. {ECO:0000269|PubMed:11549320,
CC ECO:0000269|PubMed:14576188}.
CC -!- SIMILARITY: Belongs to the MAL family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAD18789.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY007723; AAG15576.1; -; mRNA.
DR EMBL; AK172820; BAD18789.1; ALT_FRAME; mRNA.
DR EMBL; AK312030; BAG34967.1; -; mRNA.
DR EMBL; CH471060; EAW91981.1; -; Genomic_DNA.
DR EMBL; BC012367; AAH12367.1; -; mRNA.
DR CCDS; CCDS75780.1; -.
DR RefSeq; NP_443118.1; NM_052886.2.
DR AlphaFoldDB; Q969L2; -.
DR BioGRID; 125321; 54.
DR IntAct; Q969L2; 55.
DR STRING; 9606.ENSP00000479708; -.
DR GlyGen; Q969L2; 1 site.
DR iPTMnet; Q969L2; -.
DR PhosphoSitePlus; Q969L2; -.
DR BioMuta; MAL2; -.
DR DMDM; 21263778; -.
DR EPD; Q969L2; -.
DR jPOST; Q969L2; -.
DR MassIVE; Q969L2; -.
DR MaxQB; Q969L2; -.
DR PeptideAtlas; Q969L2; -.
DR PRIDE; Q969L2; -.
DR ProteomicsDB; 75788; -.
DR Antibodypedia; 26765; 32 antibodies from 9 providers.
DR DNASU; 114569; -.
DR Ensembl; ENST00000614891.5; ENSP00000479708.1; ENSG00000147676.14.
DR GeneID; 114569; -.
DR KEGG; hsa:114569; -.
DR MANE-Select; ENST00000614891.5; ENSP00000479708.1; NM_052886.3; NP_443118.1.
DR UCSC; uc033bxh.1; human.
DR CTD; 114569; -.
DR DisGeNET; 114569; -.
DR GeneCards; MAL2; -.
DR HGNC; HGNC:13634; MAL2.
DR HPA; ENSG00000147676; Tissue enhanced (esophagus).
DR MIM; 609684; gene.
DR neXtProt; NX_Q969L2; -.
DR OpenTargets; ENSG00000147676; -.
DR PharmGKB; PA30566; -.
DR VEuPathDB; HostDB:ENSG00000147676; -.
DR eggNOG; KOG4788; Eukaryota.
DR GeneTree; ENSGT00940000159514; -.
DR HOGENOM; CLU_112950_2_0_1; -.
DR InParanoid; Q969L2; -.
DR OMA; FAYHFVV; -.
DR OrthoDB; 1387690at2759; -.
DR PhylomeDB; Q969L2; -.
DR PathwayCommons; Q969L2; -.
DR SignaLink; Q969L2; -.
DR BioGRID-ORCS; 114569; 7 hits in 239 CRISPR screens.
DR ChiTaRS; MAL2; human.
DR GeneWiki; MAL2_(gene); -.
DR GenomeRNAi; 114569; -.
DR Pharos; Q969L2; Tbio.
DR PRO; PR:Q969L2; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q969L2; protein.
DR Bgee; ENSG00000147676; Expressed in upper arm skin and 173 other tissues.
DR ExpressionAtlas; Q969L2; baseline and differential.
DR Genevisible; Q969L2; HS.
DR GO; GO:0016324; C:apical plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl.
DR GO; GO:0098686; C:hippocampal mossy fiber to CA3 synapse; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR GO; GO:0030285; C:integral component of synaptic vesicle membrane; IEA:Ensembl.
DR GO; GO:0045121; C:membrane raft; IDA:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0019911; F:structural constituent of myelin sheath; IBA:GO_Central.
DR GO; GO:0042552; P:myelination; IBA:GO_Central.
DR GO; GO:0045056; P:transcytosis; IEA:InterPro.
DR InterPro; IPR013295; MAL.
DR InterPro; IPR033240; MAL2.
DR InterPro; IPR008253; Marvel.
DR PANTHER; PTHR22776:SF42; PTHR22776:SF42; 1.
DR Pfam; PF01284; MARVEL; 1.
DR PRINTS; PR01884; MALPROTEIN.
DR PROSITE; PS51225; MARVEL; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Cytoplasm; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..176
FT /note="Protein MAL2"
FT /id="PRO_0000156808"
FT TOPO_DOM 1..34
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 35..55
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 56..66
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 67..87
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 88..102
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 103..123
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 124..149
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 150..170
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 171..176
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 31..175
FT /note="MARVEL"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00581"
FT CARBOHYD 132
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:12370246,
FT ECO:0000269|PubMed:19159218"
FT VARIANT 92
FT /note="A -> T (in dbSNP:rs2303398)"
FT /id="VAR_050016"
SQ SEQUENCE 176 AA; 19125 MW; BACDA0BF3A26FD44 CRC64;
MSAGGASVPP PPNPAVSFPP PRVTLPAGPD ILRTYSGAFV CLEILFGGLV WILVASSNVP
LPLLQGWVMF VSVTAFFFSL LFLGMFLSGM VAQIDANWNF LDFAYHFTVF VFYFGAFLLE
AAATSLHDLH CNTTITGQPL LSDNQYNINV AASIFAFMTT ACYGCSLGLA LRRWRP
