SIM29_HUMAN
ID SIM29_HUMAN Reviewed; 102 AA.
AC Q86T20; A0A1C7CYX6; A8K299;
DT 02-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 23-MAY-2018, sequence version 3.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Small integral membrane protein 29 {ECO:0000312|HGNC:HGNC:1340};
DE AltName: Full=Protein LBH {ECO:0000303|PubMed:10036196};
GN Name=SMIM29 {ECO:0000312|HGNC:HGNC:1340};
GN Synonyms=C6orf1, LBH {ECO:0000303|PubMed:10036196};
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 1).
RC TISSUE=Thalamus;
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=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 [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] (ISOFORMS 1 AND 2).
RC TISSUE=B-cell, and PNS;
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 TISSUE SPECIFICITY.
RX PubMed=10036196; DOI=10.1006/geno.1998.5684;
RA Kazmierczak B., Borrmann L., Bullerdiek J.;
RT "Assignment of a new gene (LBH).";
RL Genomics 56:136-137(1999).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane
CC protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86T20-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86T20-2; Sequence=VSP_059576;
CC -!- TISSUE SPECIFICITY: Expressed in spleen, thymus, prostate, testis,
CC uterus, small intestine, colon and peripheral blood leukocytes.
CC {ECO:0000269|PubMed:10036196}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH23627.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=AAH47919.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=BAF82853.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=EAX03775.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK290164; BAF82853.1; ALT_SEQ; mRNA.
DR EMBL; AL354740; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AY062936; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03775.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC023627; AAH23627.1; ALT_SEQ; mRNA.
DR EMBL; BC047919; AAH47919.1; ALT_SEQ; mRNA.
DR CCDS; CCDS4790.1; -. [Q86T20-1]
DR RefSeq; NP_001008703.1; NM_001008703.2. [Q86T20-1]
DR RefSeq; NP_001008704.1; NM_001008704.2. [Q86T20-2]
DR RefSeq; NP_848603.2; NM_178508.4. [Q86T20-1]
DR AlphaFoldDB; Q86T20; -.
DR SMR; Q86T20; -.
DR BioGRID; 128734; 1.
DR GlyGen; Q86T20; 1 site.
DR BioMuta; SMIM29; -.
DR DMDM; 296434441; -.
DR jPOST; Q86T20; -.
DR MassIVE; Q86T20; -.
DR PaxDb; Q86T20; -.
DR PeptideAtlas; Q86T20; -.
DR PRIDE; Q86T20; -.
DR Antibodypedia; 49194; 61 antibodies from 12 providers.
DR DNASU; 221491; -.
DR Ensembl; ENST00000394990.8; ENSP00000378441.5; ENSG00000186577.14. [Q86T20-2]
DR Ensembl; ENST00000468145.1; ENSP00000418884.2; ENSG00000186577.14. [Q86T20-2]
DR Ensembl; ENST00000476320.6; ENSP00000417604.2; ENSG00000186577.14. [Q86T20-1]
DR Ensembl; ENST00000481533.5; ENSP00000418062.2; ENSG00000186577.14. [Q86T20-1]
DR GeneID; 221491; -.
DR KEGG; hsa:221491; -.
DR MANE-Select; ENST00000476320.6; ENSP00000417604.2; NM_001008703.4; NP_001008703.2.
DR UCSC; uc003ojf.5; human. [Q86T20-1]
DR CTD; 221491; -.
DR DisGeNET; 221491; -.
DR GeneCards; SMIM29; -.
DR HGNC; HGNC:1340; SMIM29.
DR HPA; ENSG00000186577; Tissue enhanced (brain).
DR MIM; 611419; gene.
DR neXtProt; NX_Q86T20; -.
DR OpenTargets; ENSG00000186577; -.
DR PharmGKB; PA25922; -.
DR VEuPathDB; HostDB:ENSG00000186577; -.
DR eggNOG; ENOG502TJYS; Eukaryota.
DR GeneTree; ENSGT00410000025882; -.
DR HOGENOM; CLU_140428_0_0_1; -.
DR InParanoid; Q86T20; -.
DR OMA; MMYIQKK; -.
DR OrthoDB; 1344740at2759; -.
DR PhylomeDB; Q86T20; -.
DR TreeFam; TF338380; -.
DR PathwayCommons; Q86T20; -.
DR BioGRID-ORCS; 221491; 23 hits in 1067 CRISPR screens.
DR ChiTaRS; C6orf1; human.
DR GenomeRNAi; 221491; -.
DR Pharos; Q86T20; Tbio.
DR PRO; PR:Q86T20; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q86T20; protein.
DR Bgee; ENSG00000186577; Expressed in cingulate cortex and 157 other tissues.
DR ExpressionAtlas; Q86T20; baseline and differential.
DR Genevisible; Q86T20; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR043239; SMIM29.
DR PANTHER; PTHR47730; PTHR47730; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..102
FT /note="Small integral membrane protein 29"
FT /id="PRO_0000019539"
FT TRANSMEM 21..41
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 3
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 18..37
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_059576"
SQ SEQUENCE 102 AA; 11550 MW; DC24B6B829CE3A90 CRC64;
MSNTTVPNAP QANSDSMVGY VLGPFFLITL VGVVVAVVMY VQKKKRVDRL RHHLLPMYSY
DPAEELHEAE QELLSDMGDP KVVHGWQSGY QHKRMPLLDV KT
