TM130_HUMAN
ID TM130_HUMAN Reviewed; 435 AA.
AC Q8N3G9; A4D266; B7Z364; Q8IY46; Q8N0W9; Q8N3R2;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Transmembrane protein 130;
DE Flags: Precursor;
GN Name=TMEM130; ORFNames=UNQ719/PRO1383;
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 2).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Hippocampus;
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 MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Amygdala;
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 [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 AND 3).
RC TISSUE=Brain;
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 [7]
RP SUBCELLULAR LOCATION.
RX PubMed=11256614; DOI=10.1093/embo-reports/kvd058;
RA Simpson J.C., Wellenreuther R., Poustka A., Pepperkok R., Wiemann S.;
RT "Systematic subcellular localization of novel proteins identified by large-
RT scale cDNA sequencing.";
RL EMBO Rep. 1:287-292(2000).
CC -!- INTERACTION:
CC Q8N3G9; Q14416: GRM2; NbExp=3; IntAct=EBI-19763514, EBI-10232876;
CC Q8N3G9; Q6N075: MFSD5; NbExp=3; IntAct=EBI-19763514, EBI-3920969;
CC Q8N3G9; Q16617: NKG7; NbExp=3; IntAct=EBI-19763514, EBI-3919611;
CC Q8N3G9; Q6UX06: OLFM4; NbExp=3; IntAct=EBI-19763514, EBI-2804156;
CC Q8N3G9; Q07326: PIGF; NbExp=3; IntAct=EBI-19763514, EBI-17180304;
CC Q8N3G9; P22732: SLC2A5; NbExp=3; IntAct=EBI-19763514, EBI-2825135;
CC Q8N3G9; Q969S0: SLC35B4; NbExp=3; IntAct=EBI-19763514, EBI-10281213;
CC Q8N3G9; Q9NV29: TMEM100; NbExp=3; IntAct=EBI-19763514, EBI-8644968;
CC Q8N3G9; O60636: TSPAN2; NbExp=3; IntAct=EBI-19763514, EBI-3914288;
CC Q8N3G9; Q96EC8: YIPF6; NbExp=3; IntAct=EBI-19763514, EBI-751210;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane
CC {ECO:0000269|PubMed:11256614}; Single-pass type I membrane protein
CC {ECO:0000269|PubMed:11256614}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N3G9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N3G9-2; Sequence=VSP_023258;
CC Name=3;
CC IsoId=Q8N3G9-3; Sequence=VSP_023257, VSP_023258;
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DR EMBL; AY358583; AAQ88946.1; -; mRNA.
DR EMBL; AK295543; BAH12100.1; -; mRNA.
DR EMBL; AL832523; CAD38628.1; -; mRNA.
DR EMBL; AL834348; CAD39013.1; -; mRNA.
DR EMBL; AL834349; CAD39014.1; -; mRNA.
DR EMBL; CH471091; EAW76701.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW76704.1; -; Genomic_DNA.
DR EMBL; CH236956; EAL23888.1; -; Genomic_DNA.
DR EMBL; BC030793; AAH30793.1; -; mRNA.
DR EMBL; BC037895; AAH37895.2; -; mRNA.
DR CCDS; CCDS47649.1; -. [Q8N3G9-3]
DR CCDS; CCDS47650.1; -. [Q8N3G9-1]
DR CCDS; CCDS5658.1; -. [Q8N3G9-2]
DR RefSeq; NP_001127922.1; NM_001134450.1. [Q8N3G9-1]
DR RefSeq; NP_001127923.1; NM_001134451.1. [Q8N3G9-3]
DR RefSeq; NP_690877.1; NM_152913.2. [Q8N3G9-2]
DR AlphaFoldDB; Q8N3G9; -.
DR BioGRID; 128818; 36.
DR IntAct; Q8N3G9; 10.
DR STRING; 9606.ENSP00000413163; -.
DR GlyGen; Q8N3G9; 3 sites.
DR iPTMnet; Q8N3G9; -.
DR PhosphoSitePlus; Q8N3G9; -.
DR BioMuta; TMEM130; -.
DR DMDM; 74714845; -.
DR MassIVE; Q8N3G9; -.
DR PaxDb; Q8N3G9; -.
DR PeptideAtlas; Q8N3G9; -.
DR PRIDE; Q8N3G9; -.
DR ProteomicsDB; 71800; -. [Q8N3G9-1]
DR ProteomicsDB; 71801; -. [Q8N3G9-2]
DR ProteomicsDB; 71802; -. [Q8N3G9-3]
DR Antibodypedia; 2578; 25 antibodies from 11 providers.
DR DNASU; 222865; -.
DR Ensembl; ENST00000339375.9; ENSP00000341256.4; ENSG00000166448.15. [Q8N3G9-2]
DR Ensembl; ENST00000345589.4; ENSP00000330262.4; ENSG00000166448.15. [Q8N3G9-3]
DR Ensembl; ENST00000416379.6; ENSP00000413163.2; ENSG00000166448.15. [Q8N3G9-1]
DR GeneID; 222865; -.
DR KEGG; hsa:222865; -.
DR MANE-Select; ENST00000339375.9; ENSP00000341256.4; NM_152913.3; NP_690877.1. [Q8N3G9-2]
DR UCSC; uc003upn.4; human. [Q8N3G9-1]
DR CTD; 222865; -.
DR DisGeNET; 222865; -.
DR GeneCards; TMEM130; -.
DR HGNC; HGNC:25429; TMEM130.
DR HPA; ENSG00000166448; Group enriched (adrenal gland, brain, pituitary gland, testis).
DR neXtProt; NX_Q8N3G9; -.
DR OpenTargets; ENSG00000166448; -.
DR PharmGKB; PA143485650; -.
DR VEuPathDB; HostDB:ENSG00000166448; -.
DR eggNOG; ENOG502QSPZ; Eukaryota.
DR GeneTree; ENSGT00950000183188; -.
DR InParanoid; Q8N3G9; -.
DR OMA; NCWLCRP; -.
DR OrthoDB; 892333at2759; -.
DR PhylomeDB; Q8N3G9; -.
DR TreeFam; TF336431; -.
DR PathwayCommons; Q8N3G9; -.
DR SignaLink; Q8N3G9; -.
DR BioGRID-ORCS; 222865; 50 hits in 1068 CRISPR screens.
DR ChiTaRS; TMEM130; human.
DR GeneWiki; TMEM130; -.
DR GenomeRNAi; 222865; -.
DR Pharos; Q8N3G9; Tdark.
DR PRO; PR:Q8N3G9; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8N3G9; protein.
DR Bgee; ENSG00000166448; Expressed in Brodmann (1909) area 9 and 126 other tissues.
DR ExpressionAtlas; Q8N3G9; baseline and differential.
DR Genevisible; Q8N3G9; HS.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR045219; PKAT.
DR InterPro; IPR000601; PKD_dom.
DR InterPro; IPR035986; PKD_dom_sf.
DR PANTHER; PTHR11861; PTHR11861; 1.
DR SUPFAM; SSF49299; SSF49299; 2.
DR PROSITE; PS50093; PKD; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Golgi apparatus; Membrane;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..24
FT /evidence="ECO:0000255"
FT CHAIN 25..435
FT /note="Transmembrane protein 130"
FT /id="PRO_0000278276"
FT TOPO_DOM 25..339
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 340..360
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 361..435
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 147..233
FT /note="PKD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00151"
FT CARBOHYD 34
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 197
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 300
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 29..130
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_023257"
FT VAR_SEQ 374..385
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:12975309,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_023258"
FT VARIANT 407
FT /note="E -> V (in dbSNP:rs17161477)"
FT /id="VAR_030740"
FT CONFLICT 104
FT /note="P -> S (in Ref. 3; CAD38628)"
FT /evidence="ECO:0000305"
FT CONFLICT 346
FT /note="C -> R (in Ref. 6; AAH37895)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 435 AA; 48329 MW; 737509A3F8263A4F CRC64;
MAQAVWSRLG RILWLACLLP WAPAGVAAGL YELNLTTDSP ATTGAVVTIS ASLVAKDNGS
LALPADAHLY RFHWIHTPLV LTGKMEKGLS STIRVVGHVP GEFPVSVWVT AADCWMCQPV
ARGFVVLPIT EFLVGDLVVT QNTSLPWPSS YLTKTVLKVS FLLHDPSNFL KTALFLYSWD
FGDGTQMVTE DSVVYYNYSI IGTFTVKLKV VAEWEEVEPD ATRAVKQKTG DFSASLKLQE
TLRGIQVLGP TLIQTFQKMT VTLNFLGSPP LTVCWRLKPE CLPLEEGECH PVSVASTAYN
LTHTFRDPGD YCFSIRAENI ISKTHQYHKI QVWPSRIQPA VFAFPCATLI TVMLAFIMYM
TLRNATQQKD MVEVADFDFS PMSDKNPEPP SGVRCCCQMC CGPFLLETPS EYLEIVRENH
GLLPPLYKSV KTYTV
