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Q9BU23

- LMF2_HUMAN

UniProt

Q9BU23 - LMF2_HUMAN

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Protein
Lipase maturation factor 2
Gene
LMF2, TMEM112B, TMEM153
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in the maturation of specific proteins in the endoplasmic reticulum. May be required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway By similarity.

Names & Taxonomyi

Protein namesi
Recommended name:
Lipase maturation factor 2
Alternative name(s):
Transmembrane protein 112B
Transmembrane protein 153
Gene namesi
Name:LMF2
Synonyms:TMEM112B, TMEM153
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:25096. LMF2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei10 – 3021Helical; Reviewed prediction
Add
BLAST
Transmembranei78 – 9821Helical; Reviewed prediction
Add
BLAST
Transmembranei102 – 12221Helical; Reviewed prediction
Add
BLAST
Transmembranei123 – 14321Helical; Reviewed prediction
Add
BLAST
Transmembranei165 – 18521Helical; Reviewed prediction
Add
BLAST
Transmembranei227 – 24721Helical; Reviewed prediction
Add
BLAST
Transmembranei259 – 27921Helical; Reviewed prediction
Add
BLAST
Transmembranei310 – 33021Helical; Reviewed prediction
Add
BLAST
Transmembranei364 – 38421Helical; Reviewed prediction
Add
BLAST
Transmembranei399 – 41921Helical; Reviewed prediction
Add
BLAST
Transmembranei637 – 65721Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162394144.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 707707Lipase maturation factor 2
PRO_0000324510Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi489 – 4891N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9BU23.
PaxDbiQ9BU23.
PRIDEiQ9BU23.

PTM databases

PhosphoSiteiQ9BU23.

Expressioni

Gene expression databases

BgeeiQ9BU23.
CleanExiHS_LMF2.
GenevestigatoriQ9BU23.

Interactioni

Protein-protein interaction databases

BioGridi124811. 2 interactions.
MINTiMINT-4723161.
STRINGi9606.ENSP00000216080.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG81106.
HOGENOMiHOG000019333.
HOVERGENiHBG108090.
InParanoidiQ9BU23.
OMAiLYTQIPG.
OrthoDBiEOG7B31MK.
PhylomeDBiQ9BU23.
TreeFamiTF314339.

Family and domain databases

InterProiIPR009613. LMF.
[Graphical view]
PfamiPF06762. LMF1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BU23-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MAGSRLPRQL FLQGVAAVFM FAFASLYTQI PGLYGPEGIL PARRTLRPQG    50
KGRWQQLWET PTLLWEAPRL GLDTAQGLEL LSLLGALVAL GALLLSPLRH 100
PVIYLLLWAA YLSACQVGQV FLYFQWDSLL LETGFLAVLV APLRPASHRK 150
EAPQGRQAGA LPHEDLPFWL VRWLLFRLMF ASGVVKLTSR CPAWWGLTAL 200
TYHYETQCLP TPAAWFAHHL PVWLHKLSVV ATFLIEIAVP PLFFAPIRRL 250
RLAAFYSQVL LQVLIIITGN YNFFNLMTLV LTTALLDDQH LAAEPGHGSR 300
KKTATSWPKA LLATLSLLLE LAVYGLLAYG TVHYFGLEVD WQQRTIHSRT 350
TFTFHQFSQW LKTLTLPTVW LGVASLVWEL LSALWRWTQV RGWLRKLSAV 400
VQLSLVGTAT VALFLISLVP YSYVEPGTHG RLWTGAHRLF GAVEHLQLAN 450
SYGLFRRMTG LGGRPEVVLE GSYDGHHWTE IEFMYKPGNL SRPPPVVVPH 500
QPRLDWQMWF AALGPHTHSP WFTSLVLRLL QGKEPVIRLV QSQVARYPFH 550
KQPPTYVRAQ RYKYWFSQPG EQGQWWRRQW VEEFFPSVSL GDPTLETLLR 600
QFGLQEKSPP RTRSANSTLA QALHWTRSQL SPLEAPALLW GLLMAVGAVR 650
FVQALLAPCS LRSSPLAPVS GEKRRPASQK DSGAASEQAT AAPNPCSSSS 700
RTTRRKK 707
Length:707
Mass (Da):79,698
Last modified:March 1, 2004 - v2
Checksum:iF3599AE9549C7E62
GO
Isoform 2 (identifier: Q9BU23-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: MAGSRLPRQLFLQGVAAVFMFAFASLYTQIP → MTCPPT

Show »
Length:682
Mass (Da):76,915
Checksum:i232E393DC1F5A51D
GO
Isoform 3 (identifier: Q9BU23-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     392-504: Missing.

Note: No experimental confirmation available.

Show »
Length:594
Mass (Da):67,156
Checksum:i03FAAE2CF75D5BAF
GO

Sequence cautioni

The sequence BAC85437.1 differs from that shown. Reason: Chimeric cDNA.
The sequence AAB03346.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti68 – 681P → L in a breast cancer sample; somatic mutation. 1 Publication
VAR_039803
Natural varianti479 – 4791T → M.
Corresponds to variant rs8136495 [ dbSNP | Ensembl ].
VAR_039804

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3131MAGSR…YTQIP → MTCPPT in isoform 2.
VSP_032254Add
BLAST
Alternative sequencei392 – 504113Missing in isoform 3.
VSP_032255Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti571 – 5711E → G in BAC85437. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
CR456605 mRNA. Translation: CAG30491.1.
U62317 Genomic DNA. Translation: AAB03346.1. Sequence problems.
BC002942 mRNA. Translation: AAH02942.2.
BC014652 mRNA. Translation: AAH14652.1.
BC021143 mRNA. Translation: AAH21143.1.
AK130818 mRNA. Translation: BAC85437.1. Sequence problems.
CCDSiCCDS14093.2. [Q9BU23-1]
RefSeqiNP_149977.2. NM_033200.2. [Q9BU23-1]
XP_005262012.1. XM_005261955.1. [Q9BU23-2]
UniGeneiHs.150540.

Genome annotation databases

EnsembliENST00000216080; ENSP00000216080; ENSG00000100258. [Q9BU23-2]
ENST00000380796; ENSP00000370173; ENSG00000100258. [Q9BU23-3]
ENST00000474879; ENSP00000424381; ENSG00000100258. [Q9BU23-1]
GeneIDi91289.
KEGGihsa:91289.
UCSCiuc003blo.2. human. [Q9BU23-2]
uc003blp.2. human. [Q9BU23-1]

Polymorphism databases

DMDMi74733167.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
CR456605 mRNA. Translation: CAG30491.1 .
U62317 Genomic DNA. Translation: AAB03346.1 . Sequence problems.
BC002942 mRNA. Translation: AAH02942.2 .
BC014652 mRNA. Translation: AAH14652.1 .
BC021143 mRNA. Translation: AAH21143.1 .
AK130818 mRNA. Translation: BAC85437.1 . Sequence problems.
CCDSi CCDS14093.2. [Q9BU23-1 ]
RefSeqi NP_149977.2. NM_033200.2. [Q9BU23-1 ]
XP_005262012.1. XM_005261955.1. [Q9BU23-2 ]
UniGenei Hs.150540.

3D structure databases

ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124811. 2 interactions.
MINTi MINT-4723161.
STRINGi 9606.ENSP00000216080.

PTM databases

PhosphoSitei Q9BU23.

Polymorphism databases

DMDMi 74733167.

Proteomic databases

MaxQBi Q9BU23.
PaxDbi Q9BU23.
PRIDEi Q9BU23.

Protocols and materials databases

DNASUi 91289.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000216080 ; ENSP00000216080 ; ENSG00000100258 . [Q9BU23-2 ]
ENST00000380796 ; ENSP00000370173 ; ENSG00000100258 . [Q9BU23-3 ]
ENST00000474879 ; ENSP00000424381 ; ENSG00000100258 . [Q9BU23-1 ]
GeneIDi 91289.
KEGGi hsa:91289.
UCSCi uc003blo.2. human. [Q9BU23-2 ]
uc003blp.2. human. [Q9BU23-1 ]

Organism-specific databases

CTDi 91289.
GeneCardsi GC22M050941.
H-InvDB HIX0016614.
HGNCi HGNC:25096. LMF2.
neXtProti NX_Q9BU23.
PharmGKBi PA162394144.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG81106.
HOGENOMi HOG000019333.
HOVERGENi HBG108090.
InParanoidi Q9BU23.
OMAi LYTQIPG.
OrthoDBi EOG7B31MK.
PhylomeDBi Q9BU23.
TreeFami TF314339.

Miscellaneous databases

ChiTaRSi LMF2. human.
GenomeRNAii 91289.
NextBioi 77159.
PROi Q9BU23.

Gene expression databases

Bgeei Q9BU23.
CleanExi HS_LMF2.
Genevestigatori Q9BU23.

Family and domain databases

InterProi IPR009613. LMF.
[Graphical view ]
Pfami PF06762. LMF1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  2. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Kidney and Skin.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 317-707 (ISOFORM 3).
    Tissue: Thymus.
  5. Cited for: IDENTIFICATION.
  6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-68.

Entry informationi

Entry nameiLMF2_HUMAN
AccessioniPrimary (citable) accession number: Q9BU23
Secondary accession number(s): A6NEZ0
, Q13392, Q6ZNR2, Q8WU74, Q96C62
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 1, 2004
Last modified: July 9, 2014
This is version 98 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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