UN93A_HUMAN
ID UN93A_HUMAN Reviewed; 457 AA.
AC Q86WB7; B3KRP5; Q4QQJ4; Q5JZD6;
DT 07-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Protein unc-93 homolog A;
DE Short=HmUnc-93A;
DE Short=Unc-93A;
GN Name=UNC93A;
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] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND VARIANTS ILE-292; HIS-387; THR-403; ILE-409 AND ALA-445.
RC TISSUE=Ovary;
RX PubMed=12381271; DOI=10.1186/1471-2156-3-20;
RA Liu Y., Dodds P., Emilion G., Mungall A.J., Dunham I., Beck S., Wells R.S.,
RA Charnock F.M.L., Ganesan T.S.;
RT "The human homologue of unc-93 maps to chromosome 6q27 - characterisation
RT and analysis in sporadic epithelial ovarian cancer.";
RL BMC Genet. 3:20-20(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Liver, and Spleen;
RA Kollewe A.;
RT "Cloning and characterization of mammalian homologs of unc-93 from
RT Caenorhabditis elegans, a protein relevant for muscle contraction.";
RL Thesis (2001), University of Hannover, Germany.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Liver;
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 -!- INTERACTION:
CC Q86WB7-2; O95870: ABHD16A; NbExp=3; IntAct=EBI-13356252, EBI-348517;
CC Q86WB7-2; Q13520: AQP6; NbExp=3; IntAct=EBI-13356252, EBI-13059134;
CC Q86WB7-2; Q9HD20-3: ATP13A1; NbExp=3; IntAct=EBI-13356252, EBI-12069500;
CC Q86WB7-2; P13236: CCL4; NbExp=3; IntAct=EBI-13356252, EBI-2873970;
CC Q86WB7-2; Q08708: CD300C; NbExp=3; IntAct=EBI-13356252, EBI-3915344;
CC Q86WB7-2; O14735: CDIPT; NbExp=3; IntAct=EBI-13356252, EBI-358858;
CC Q86WB7-2; P48165: GJA8; NbExp=3; IntAct=EBI-13356252, EBI-17458373;
CC Q86WB7-2; Q96P66: GPR101; NbExp=3; IntAct=EBI-13356252, EBI-17935713;
CC Q86WB7-2; Q8TDV0: GPR151; NbExp=3; IntAct=EBI-13356252, EBI-11955647;
CC Q86WB7-2; Q9UIQ6-2: LNPEP; NbExp=3; IntAct=EBI-13356252, EBI-12133176;
CC Q86WB7-2; Q02094: RHAG; NbExp=3; IntAct=EBI-13356252, EBI-14772355;
CC Q86WB7-2; Q6ICL7: SLC35E4; NbExp=3; IntAct=EBI-13356252, EBI-12867720;
CC Q86WB7-2; Q92504: SLC39A7; NbExp=3; IntAct=EBI-13356252, EBI-1051105;
CC Q86WB7-2; Q6P1K1: SLC48A1; NbExp=3; IntAct=EBI-13356252, EBI-1222191;
CC Q86WB7-2; O43759-2: SYNGR1; NbExp=3; IntAct=EBI-13356252, EBI-12187159;
CC Q86WB7-2; Q9NPL8: TIMMDC1; NbExp=3; IntAct=EBI-13356252, EBI-6268651;
CC Q86WB7-2; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-13356252, EBI-8638294;
CC Q86WB7-2; Q96Q45-2: TMEM237; NbExp=6; IntAct=EBI-13356252, EBI-10982110;
CC Q86WB7-2; Q9Y320: TMX2; NbExp=3; IntAct=EBI-13356252, EBI-6447886;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12381271};
CC Multi-pass membrane protein {ECO:0000269|PubMed:12381271}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86WB7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86WB7-2; Sequence=VSP_042772;
CC -!- TISSUE SPECIFICITY: Expressed in testis, small intestine, spleen,
CC prostate and ovary. {ECO:0000269|PubMed:12381271}.
CC -!- MISCELLANEOUS: Although UNC93A gene is located in a region of the
CC genome frequently associated with ovarian cancer, no evidence have been
CC found for a tumor suppressor function.
CC -!- SIMILARITY: Belongs to the unc-93 family. {ECO:0000305}.
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DR EMBL; AJ508812; CAD48541.1; -; mRNA.
DR EMBL; AJ422141; CAD19521.1; -; mRNA.
DR EMBL; AK091987; BAG52457.1; -; mRNA.
DR EMBL; AL021331; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC098248; AAH98248.1; -; mRNA.
DR EMBL; BC099718; AAH99718.1; -; mRNA.
DR EMBL; BC105635; AAI05636.1; -; mRNA.
DR CCDS; CCDS47515.1; -. [Q86WB7-2]
DR CCDS; CCDS5300.1; -. [Q86WB7-1]
DR RefSeq; NP_001137419.1; NM_001143947.1. [Q86WB7-2]
DR RefSeq; NP_061847.2; NM_018974.3. [Q86WB7-1]
DR RefSeq; XP_011534207.1; XM_011535905.2. [Q86WB7-1]
DR RefSeq; XP_011534208.1; XM_011535906.2. [Q86WB7-1]
DR RefSeq; XP_011534209.1; XM_011535907.2. [Q86WB7-1]
DR RefSeq; XP_016866447.1; XM_017010958.1. [Q86WB7-1]
DR AlphaFoldDB; Q86WB7; -.
DR SMR; Q86WB7; -.
DR BioGRID; 119937; 23.
DR IntAct; Q86WB7; 19.
DR STRING; 9606.ENSP00000230256; -.
DR GlyGen; Q86WB7; 1 site.
DR BioMuta; UNC93A; -.
DR DMDM; 67462066; -.
DR MassIVE; Q86WB7; -.
DR PaxDb; Q86WB7; -.
DR PeptideAtlas; Q86WB7; -.
DR PRIDE; Q86WB7; -.
DR ProteomicsDB; 70143; -. [Q86WB7-1]
DR ProteomicsDB; 70144; -. [Q86WB7-2]
DR Antibodypedia; 33537; 105 antibodies from 21 providers.
DR DNASU; 54346; -.
DR Ensembl; ENST00000230256.8; ENSP00000230256.3; ENSG00000112494.10. [Q86WB7-1]
DR Ensembl; ENST00000366829.2; ENSP00000355794.2; ENSG00000112494.10. [Q86WB7-2]
DR GeneID; 54346; -.
DR KEGG; hsa:54346; -.
DR MANE-Select; ENST00000230256.8; ENSP00000230256.3; NM_018974.4; NP_061847.2.
DR UCSC; uc003qvq.4; human. [Q86WB7-1]
DR CTD; 54346; -.
DR DisGeNET; 54346; -.
DR GeneCards; UNC93A; -.
DR HGNC; HGNC:12570; UNC93A.
DR HPA; ENSG00000112494; Group enriched (esophagus, intestine, liver, skin).
DR MIM; 607995; gene.
DR neXtProt; NX_Q86WB7; -.
DR OpenTargets; ENSG00000112494; -.
DR PharmGKB; PA37207; -.
DR VEuPathDB; HostDB:ENSG00000112494; -.
DR eggNOG; KOG3097; Eukaryota.
DR GeneTree; ENSGT00530000063359; -.
DR HOGENOM; CLU_025356_1_1_1; -.
DR InParanoid; Q86WB7; -.
DR OMA; FLCLEYK; -.
DR OrthoDB; 1145833at2759; -.
DR PhylomeDB; Q86WB7; -.
DR TreeFam; TF314905; -.
DR PathwayCommons; Q86WB7; -.
DR SignaLink; Q86WB7; -.
DR BioGRID-ORCS; 54346; 13 hits in 1062 CRISPR screens.
DR GenomeRNAi; 54346; -.
DR Pharos; Q86WB7; Tdark.
DR PRO; PR:Q86WB7; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q86WB7; protein.
DR Bgee; ENSG00000112494; Expressed in skin of leg and 55 other tissues.
DR ExpressionAtlas; Q86WB7; baseline and differential.
DR Genevisible; Q86WB7; HS.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR Gene3D; 1.20.1250.20; -; 2.
DR InterPro; IPR010291; Ion_channel_UNC-93.
DR InterPro; IPR036259; MFS_trans_sf.
DR Pfam; PF05978; UNC-93; 1.
DR SUPFAM; SSF103473; SSF103473; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Glycoprotein; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..457
FT /note="Protein unc-93 homolog A"
FT /id="PRO_0000190036"
FT TRANSMEM 8..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 42..62
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 65..85
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 86..106
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 140..160
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 202..222
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 257..277
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 291..311
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 320..340
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 344..364
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 395..415
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 190
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 167..208
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_042772"
FT VARIANT 6
FT /note="R -> K (in dbSNP:rs36110805)"
FT /id="VAR_052473"
FT VARIANT 128
FT /note="K -> Q (in dbSNP:rs35313366)"
FT /id="VAR_052474"
FT VARIANT 292
FT /note="V -> I (in dbSNP:rs2072767)"
FT /evidence="ECO:0000269|PubMed:12381271"
FT /id="VAR_022650"
FT VARIANT 295
FT /note="V -> M (in dbSNP:rs4708771)"
FT /id="VAR_052475"
FT VARIANT 308
FT /note="V -> M (in dbSNP:rs35854179)"
FT /id="VAR_061874"
FT VARIANT 387
FT /note="Y -> H (in dbSNP:rs663227)"
FT /evidence="ECO:0000269|PubMed:12381271"
FT /id="VAR_022651"
FT VARIANT 403
FT /note="M -> I (in dbSNP:rs9459921)"
FT /id="VAR_059849"
FT VARIANT 403
FT /note="M -> T (in dbSNP:rs663606)"
FT /evidence="ECO:0000269|PubMed:12381271"
FT /id="VAR_022652"
FT VARIANT 409
FT /note="V -> I (in dbSNP:rs7739897)"
FT /evidence="ECO:0000269|PubMed:12381271"
FT /id="VAR_022653"
FT VARIANT 445
FT /note="V -> A (in dbSNP:rs752323292)"
FT /evidence="ECO:0000269|PubMed:12381271"
FT /id="VAR_022654"
SQ SEQUENCE 457 AA; 50270 MW; B73491988637AA26 CRC64;
MDRSLRNVLV VSFGFLLLFT AYGGLQSLQS SLYSEEGLGV TALSTLYGGM LLSSMFLPPL
LIERLGCKGT IILSMCGYVA FSVGNFFASW YTLIPTSILL GLGAAPLWSA QCTYLTITGN
THAEKAGKRG KDMVNQYFGI FFLIFQSSGV WGNLISSLVF GQTPSQETLP EEQLTSCGAS
DCLMATTTTN STQRPSQQLV YTLLGIYTGS GVLAVLMIAA FLQPIRDVQR ESEGEKKSVP
FWSTLLSTFK LYRDKRLCLL ILLPLYSGLQ QGFLSSEYTR SYVTCTLGIQ FVGYVMICFS
ATDALCSVLY GKVSQYTGRA VLYVLGAVTH VSCMIALLLW RPRADHLAVF FVFSGLWGVA
DAVWQTQNNA LYGVLFEKSK EAAFANYRLW EALGFVIAFG YSMFLCVHVK LYILLGVLSL
TMVAYGLVEC VESKNPIRPH APGQVNQAED EEIQTKM
