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Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein)

 BSCL2_HUMAN             Reviewed;         398 AA.
Q96G97; G3XAE4; Q567S1; Q96SV1; Q9BSQ0;
26-APR-2005, integrated into UniProtKB/Swiss-Prot.
24-NOV-2009, sequence version 3.
13-FEB-2019, entry version 149.
RecName: Full=Seipin;
AltName: Full=Bernardinelli-Seip congenital lipodystrophy type 2 protein;
Name=BSCL2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1] {ECO:0000305, ECO:0000312|EMBL:BAC11543.1}
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Retinoblastoma {ECO:0000312|EMBL:BAC11543.1}, and
Teratocarcinoma {ECO:0000312|EMBL:BAB55175.1};
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[2] {ECO:0000305}
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
Yu W., Sarginson J., Gibbs R.A.;
Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases.
[3] {ECO:0000305}
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16554811; DOI=10.1038/nature04632;
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
Sakaki Y.;
"Human chromosome 11 DNA sequence and analysis including novel gene
identification.";
Nature 440:497-500(2006).
[5] {ECO:0000305, ECO:0000312|EMBL:AAH04911.1}
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Kidney {ECO:0000312|EMBL:AAH12140.1},
Lung {ECO:0000312|EMBL:AAH04911.1},
Pancreas {ECO:0000312|EMBL:AAH41640.1}, and Pituitary;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6] {ECO:0000305}
TISSUE SPECIFICITY, AND VARIANT CGL2 PRO-212.
PubMed=11479539; DOI=10.1038/ng585;
Magre J., Delepine M., Khallouf E., Gedde-Dahl T. Jr.,
Van Maldergem L., Sobel E., Papp J., Meier M., Megarbane A., Bachy A.,
Verloes A., d'Abronzo F.H., Seemanova E., Assan R., Baudic N.,
Bourut C., Czernichow P., Huet F., Grigorescu F., de Kerdanet M.,
Lacombe D., Labrune P., Lanza M., Loret H., Matsuda F., Navarro J.,
Nivelon-Chevalier A., Polak M., Robert J.J., Tric P., Tubiana-Rufi N.,
Vigouroux C., Weissenbach J., Savasta S., Maassen J.A., Trygstad O.,
Bogalho P., Freitas P., Medina J.L., Bonnicci F., Joffe B.I.,
Loyson G., Panz V.R., Raal F.J., O'Rahilly S., Stephenson T.,
Kahn C.R., Lathrop M., Capeau J.;
"Identification of the gene altered in Berardinelli-Seip congenital
lipodystrophy on chromosome 11q13.";
Nat. Genet. 28:365-370(2001).
[7] {ECO:0000305}
SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-88, AND VARIANTS SPG17 AND
HMN5A SER-88 AND LEU-90.
PubMed=14981520; DOI=10.1038/ng1313;
Windpassinger C., Auer-Grumbach M., Irobi J., Patel H., Petek E.,
Hoerl G., Malli R., Reed J.A., Dierick I., Verpoorten N., Warner T.T.,
Proukakis C., Van den Bergh P., Verellen C., Van Maldergem L.,
Merlini L., De Jonghe P., Timmerman V., Crosby A.H., Wagner K.;
"Heterozygous missense mutations in BSCL2 are associated with distal
hereditary motor neuropathy and Silver syndrome.";
Nat. Genet. 36:271-276(2004).
[8]
SUBCELLULAR LOCATION, AND TOPOLOGY.
PubMed=16574104; DOI=10.1016/j.febslet.2006.03.040;
Lundin C., Nordstrom R., Wagner K., Windpassinger C., Andersson H.,
von Heijne G., Nilsson I.;
"Membrane topology of the human seipin protein.";
FEBS Lett. 580:2281-2284(2006).
[9]
SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND VARIANT PRO-212.
PubMed=18458148; DOI=10.2337/db08-0184;
Payne V.A., Grimsey N., Tuthill A., Virtue S., Gray S.L.,
Dalla Nora E., Semple R.K., O'Rahilly S., Rochford J.J.;
"The human lipodystrophy gene BSCL2/seipin may be essential for normal
adipocyte differentiation.";
Diabetes 57:2055-2060(2008).
[10]
TISSUE SPECIFICITY, AND CHARACTERIZATION OF VARIANT SPG17 SER-88.
PubMed=18585921; DOI=10.1016/j.nbd.2008.05.004;
Ito D., Fujisawa T., Iida H., Suzuki N.;
"Characterization of seipin/BSCL2, a protein associated with spastic
paraplegia 17.";
Neurobiol. Dis. 31:266-277(2008).
[11]
FUNCTION.
PubMed=19278620; DOI=10.1016/j.biochi.2009.01.011;
Boutet E., El Mourabit H., Prot M., Nemani M., Khallouf E., Colard O.,
Maurice M., Durand-Schneider A.M., Chretien Y., Gres S., Wolf C.,
Saulnier-Blache J.S., Capeau J., Magre J.;
"Seipin deficiency alters fatty acid Delta9 desaturation and lipid
droplet formation in Berardinelli-Seip congenital lipodystrophy.";
Biochimie 91:796-803(2009).
[12]
FUNCTION, AND VARIANT LEU-90.
PubMed=21533227; DOI=10.1371/journal.pgen.1001364;
Tian Y., Bi J., Shui G., Liu Z., Xiang Y., Liu Y., Wenk M.R., Yang H.,
Huang X.;
"Tissue-autonomous function of Drosophila seipin in preventing ectopic
lipid droplet formation.";
PLoS Genet. 7:E1001364-E1001364(2011).
[13]
INVOLVEMENT IN PELD.
PubMed=23564749; DOI=10.1136/jmedgenet-2013-101525;
Guillen-Navarro E., Sanchez-Iglesias S., Domingo-Jimenez R.,
Victoria B., Ruiz-Riquelme A., Rabano A., Loidi L., Beiras A.,
Gonzalez-Mendez B., Ramos A., Lopez-Gonzalez V.,
Ballesta-Martinez M.J., Garrido-Pumar M., Aguiar P., Ruibal A.,
Requena J.R., Araujo-Vilar D.;
"A new seipin-associated neurodegenerative syndrome.";
J. Med. Genet. 50:401-409(2013).
[14]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-289 AND SER-372, AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[15]
VARIANT HMN5A SER-88, AND VARIANT SPG17 LEU-90.
PubMed=17663003; DOI=10.1016/j.jns.2007.06.047;
Rohkamm B., Reilly M.M., Lochmueller H., Schlotter-Weigel B.,
Barisic N., Schoels L., Nicholson G., Pareyson D., Laura M.,
Janecke A.R., Miltenberger-Miltenyi G., John E., Fischer C., Grill F.,
Wakeling W., Davis M., Pieber T.R., Auer-Grumbach M.;
"Further evidence for genetic heterogeneity of distal HMN type V, CMT2
with predominant hand involvement and Silver syndrome.";
J. Neurol. Sci. 263:100-106(2007).
[16]
VARIANT SPG17 LEU-90.
PubMed=24604904; DOI=10.1136/jnnp-2013-306740;
Klein C.J., Middha S., Duan X., Wu Y., Litchy W.J., Gu W., Dyck P.J.,
Gavrilova R.H., Smith D.I., Kocher J.P., Dyck P.J.;
"Application of whole exome sequencing in undiagnosed inherited
polyneuropathies.";
J. Neurol. Neurosurg. Psych. 85:1265-1272(2014).
-!- FUNCTION: Is a regulator of lipid catabolism essential for
adipocyte differentiation. May also be involved in the central
regulation of energy homeostasis (By similarity). Necessary for
correct lipid storage and lipid droplets maintenance; may play a
tissue-autonomous role in controlling lipid storage in adipocytes
and in preventing ectopic lipid droplet formation in non-adipose
tissues. {ECO:0000250, ECO:0000269|PubMed:19278620,
ECO:0000269|PubMed:21533227}.
-!- INTERACTION:
P42857:NSG1; NbExp=3; IntAct=EBI-10178113, EBI-6380741;
Q9H8W4:PLEKHF2; NbExp=3; IntAct=EBI-10178113, EBI-742388;
Q9BZL3:SMIM3; NbExp=4; IntAct=EBI-741806, EBI-741850;
H3BR10:SMLR1; NbExp=3; IntAct=EBI-10178113, EBI-10178109;
Q96HH6:TMEM19; NbExp=4; IntAct=EBI-741806, EBI-741829;
-!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
{ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:16574104,
ECO:0000269|PubMed:18458148}; Multi-pass membrane protein
{ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:16574104,
ECO:0000269|PubMed:18458148}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q96G97-2; Sequence=Displayed;
Name=2;
IsoId=Q96G97-3; Sequence=VSP_051726, VSP_051727;
Note=No experimental confirmation available. {ECO:0000305};
Name=3;
IsoId=Q96G97-4; Sequence=VSP_044545;
Note=No experimental confirmation available. {ECO:0000305};
-!- TISSUE SPECIFICITY: Expressed in motor neurons in the spinal cord
and cortical neurons in the frontal lobe (at protein level).
Highly expressed in brain, testis and adipose tissue.
{ECO:0000269|PubMed:11479539, ECO:0000269|PubMed:18458148,
ECO:0000269|PubMed:18585921}.
-!- DISEASE: Congenital generalized lipodystrophy 2 (CGL2)
[MIM:269700]: An autosomal recessive disorder characterized by a
near complete absence of adipose tissue, extreme insulin
resistance, hypertriglyceridemia, hepatic steatosis and early
onset of diabetes. {ECO:0000269|PubMed:11479539}. Note=The disease
is caused by mutations affecting the gene represented in this
entry.
-!- DISEASE: Spastic paraplegia 17, autosomal dominant (SPG17)
[MIM:270685]: A form of spastic paraplegia, a neurodegenerative
disorder characterized by a slow, gradual, progressive weakness
and spasticity of the lower limbs. Rate of progression and the
severity of symptoms are quite variable. Initial symptoms may
include difficulty with balance, weakness and stiffness in the
legs, muscle spasms, and dragging the toes when walking. In some
forms of the disorder, bladder symptoms (such as incontinence) may
appear, or the weakness and stiffness may spread to other parts of
the body. SPG17 is characterized by prominent amyotrophy of the
hand muscles, the presence of mild to severe pyramidal tract signs
and spastic paraplegia. SPG17 is a motor neuron disease
overlapping with distal spinal muscular atrophy type 5.
{ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:17663003,
ECO:0000269|PubMed:18585921, ECO:0000269|PubMed:24604904}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Neuronopathy, distal hereditary motor, 5A (HMN5A)
[MIM:600794]: A disorder characterized by distal muscular atrophy
mainly affecting the upper extremities, in contrast to other
distal motor neuronopathies. These constitute a heterogeneous
group of neuromuscular diseases caused by selective degeneration
of motor neurons in the anterior horn of the spinal cord, without
sensory deficit in the posterior horn. The overall clinical
picture consists of a classical distal muscular atrophy syndrome
in the legs without clinical sensory loss. The disease starts with
weakness and wasting of distal muscles of the anterior tibial and
peroneal compartments of the legs. Later on, weakness and atrophy
may expand to the proximal muscles of the lower limbs and/or to
the distal upper limbs. {ECO:0000269|PubMed:14981520,
ECO:0000269|PubMed:17663003}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Encephalopathy, progressive, with or without
lipodystrophy (PELD) [MIM:615924]: A neurodegenerative disease
characterized by developmental regression of motor and cognitive
skills in the first years of life, often leading to death in the
first decade, hyperactive behavior, seizures, tremor and ataxic
gait. Patients may show a mild or typical lipodystrophic
appearance. {ECO:0000269|PubMed:23564749}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the seipin family. {ECO:0000305}.
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EMBL; AK027524; BAB55175.1; -; mRNA.
EMBL; AK075317; BAC11543.1; -; mRNA.
EMBL; AF052149; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; CH471076; EAW74070.1; -; Genomic_DNA.
EMBL; CH471076; EAW74074.1; -; Genomic_DNA.
EMBL; AP001458; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC004911; AAH04911.1; -; mRNA.
EMBL; BC012140; AAH12140.1; -; mRNA.
EMBL; BC041640; AAH41640.1; -; mRNA.
EMBL; BC093048; AAH93048.1; -; mRNA.
CCDS; CCDS44627.1; -. [Q96G97-4]
CCDS; CCDS55769.1; -. [Q96G97-3]
CCDS; CCDS8031.1; -. [Q96G97-2]
RefSeq; NP_001116427.1; NM_001122955.3. [Q96G97-4]
RefSeq; NP_001124174.2; NM_001130702.2. [Q96G97-3]
RefSeq; NP_116056.3; NM_032667.6. [Q96G97-2]
UniGene; Hs.533709; -.
PDB; 6DS5; EM; 3.80 A; A/B/C/D/E/F/G/H/I/J/K=2-398.
PDBsum; 6DS5; -.
ProteinModelPortal; Q96G97; -.
SMR; Q96G97; -.
BioGrid; 117749; 44.
CORUM; Q96G97; -.
IntAct; Q96G97; 11.
MINT; Q96G97; -.
STRING; 9606.ENSP00000354032; -.
TCDB; 1.R.1.1.1; the membrane contact site (mcs) family.
CarbonylDB; Q96G97; -.
GlyConnect; 1728; -.
iPTMnet; Q96G97; -.
PhosphoSitePlus; Q96G97; -.
BioMuta; BSCL2; -.
DMDM; 269849705; -.
EPD; Q96G97; -.
jPOST; Q96G97; -.
PaxDb; Q96G97; -.
PeptideAtlas; Q96G97; -.
PRIDE; Q96G97; -.
ProteomicsDB; 76606; -.
ProteomicsDB; 76607; -. [Q96G97-3]
DNASU; 26580; -.
Ensembl; ENST00000278893; ENSP00000278893; ENSG00000168000. [Q96G97-3]
Ensembl; ENST00000360796; ENSP00000354032; ENSG00000168000. [Q96G97-4]
Ensembl; ENST00000403550; ENSP00000385561; ENSG00000168000. [Q96G97-2]
Ensembl; ENST00000407022; ENSP00000384080; ENSG00000168000. [Q96G97-2]
Ensembl; ENST00000421906; ENSP00000413209; ENSG00000168000. [Q96G97-2]
GeneID; 26580; -.
KEGG; hsa:26580; -.
UCSC; uc001nup.4; human. [Q96G97-2]
CTD; 26580; -.
DisGeNET; 26580; -.
EuPathDB; HostDB:ENSG00000168000.14; -.
GeneCards; BSCL2; -.
GeneReviews; BSCL2; -.
HGNC; HGNC:15832; BSCL2.
HPA; HPA042394; -.
MalaCards; BSCL2; -.
MIM; 269700; phenotype.
MIM; 270685; phenotype.
MIM; 600794; phenotype.
MIM; 606158; gene.
MIM; 615924; phenotype.
neXtProt; NX_Q96G97; -.
OpenTargets; ENSG00000168000; -.
Orphanet; 100998; Autosomal dominant spastic paraplegia type 17.
Orphanet; 528; Berardinelli-Seip congenital lipodystrophy.
Orphanet; 139536; Distal hereditary motor neuropathy type 5.
Orphanet; 363400; Severe neurodegenerative syndrome with lipodystrophy.
PharmGKB; PA25432; -.
eggNOG; KOG4200; Eukaryota.
eggNOG; ENOG4111GRP; LUCA.
GeneTree; ENSGT00390000011639; -.
HOGENOM; HOG000220875; -.
HOVERGEN; HBG050736; -.
InParanoid; Q96G97; -.
KO; K19365; -.
OrthoDB; 1390748at2759; -.
PhylomeDB; Q96G97; -.
TreeFam; TF314000; -.
ChiTaRS; BSCL2; human.
GeneWiki; BSCL2; -.
GenomeRNAi; 26580; -.
PRO; PR:Q96G97; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000168000; Expressed in 96 organ(s), highest expression level in testis.
ExpressionAtlas; Q96G97; baseline and differential.
Genevisible; Q96G97; HS.
GO; GO:0030176; C:integral component of endoplasmic reticulum membrane; IDA:UniProtKB.
GO; GO:0045444; P:fat cell differentiation; ISS:UniProtKB.
GO; GO:0016042; P:lipid catabolic process; IEA:UniProtKB-KW.
GO; GO:0034389; P:lipid droplet organization; IMP:UniProtKB.
GO; GO:0019915; P:lipid storage; IMP:UniProtKB.
GO; GO:0050995; P:negative regulation of lipid catabolic process; ISS:UniProtKB.
GO; GO:0120162; P:positive regulation of cold-induced thermogenesis; ISS:YuBioLab.
InterPro; IPR009617; Seipin.
PANTHER; PTHR21212; PTHR21212; 1.
Pfam; PF06775; Seipin; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Congenital generalized lipodystrophy; Diabetes mellitus;
Disease mutation; Endoplasmic reticulum; Glycoprotein;
Hereditary spastic paraplegia; Lipid degradation; Lipid metabolism;
Membrane; Neurodegeneration; Neuropathy; Phosphoprotein;
Reference proteome; Transmembrane; Transmembrane helix.
CHAIN 1 398 Seipin.
/FTId=PRO_0000191679.
TOPO_DOM 1 26 Cytoplasmic. {ECO:0000255}.
TRANSMEM 27 47 Helical. {ECO:0000255}.
TOPO_DOM 48 242 Lumenal. {ECO:0000255}.
TRANSMEM 243 263 Helical. {ECO:0000255}.
TOPO_DOM 264 398 Cytoplasmic. {ECO:0000255}.
MOD_RES 289 289 Phosphoserine.
{ECO:0000244|PubMed:24275569}.
MOD_RES 346 346 Phosphoserine.
{ECO:0000250|UniProtKB:Q5FVJ6}.
MOD_RES 351 351 Phosphoserine.
{ECO:0000250|UniProtKB:Q5FVJ6}.
MOD_RES 372 372 Phosphoserine.
{ECO:0000244|PubMed:24275569}.
CARBOHYD 88 88 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:14981520}.
CARBOHYD 242 242 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 1 M -> MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAAS
HGQGWRPGGRAARNARPEPGARHPALPAM (in isoform
3). {ECO:0000305}.
/FTId=VSP_044545.
VAR_SEQ 225 287 YLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPR
HRFSLQVNIRKRDNSRKEVQRR -> LTSEKETIPGRKSNE
GSLLISQGLKARRSQLRNQMLQRMVRALKIPQGQRVSCPRR
RNQISSP (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_051726.
VAR_SEQ 288 398 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_051727.
VARIANT 88 88 N -> S (in SPG17 and HMN5A; does not
affect protein subcellular location;
dbSNP:rs137852972).
{ECO:0000269|PubMed:14981520,
ECO:0000269|PubMed:17663003,
ECO:0000269|PubMed:18585921}.
/FTId=VAR_022375.
VARIANT 90 90 S -> L (in SPG17 and HMN5A; also found in
patients with hereditary motor and
sensory neuropathy type 2; does not
affect the function in lipid storage;
dbSNP:rs137852973).
{ECO:0000269|PubMed:14981520,
ECO:0000269|PubMed:17663003,
ECO:0000269|PubMed:21533227,
ECO:0000269|PubMed:24604904}.
/FTId=VAR_022376.
VARIANT 212 212 A -> P (in CGL2; increases localization
to nuclear envelope; dbSNP:rs137852971).
{ECO:0000269|PubMed:11479539,
ECO:0000269|PubMed:18458148}.
/FTId=VAR_022377.
SEQUENCE 398 AA; 44392 MW; 9FB1B37E72493DB9 CRC64;
MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG SFYYSYMPTV
SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL MYGQPYRVTL ELELPESPVN
QDLGMFLVTI SCYTRGGRII STSSRSVMLH YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE
VELYADYREN SYVPTTGAII EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA
SNFTFLSVIV LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE
STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG SWEDAALLTE
ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS


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Kits Elisa; taq POLYMERASE

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Pathways :
WP2272: Pathogenic Escherichia coli infection
WP1017: Type II interferon signaling (IFNG)
WP1049: G Protein Signaling Pathways
WP1136: Type II interferon signaling (IFNG)
WP1165: G Protein Signaling Pathways
WP1253: Type II interferon signaling (IFNG)
WP1289: Type II interferon signaling (IFNG)
WP1350: Type II interferon signaling (IFNG)
WP1371: G Protein Signaling Pathways
WP1438: Influenza A virus infection
WP1493: Carbon assimilation C4 pathway
WP1502: Mitochondrial biogenesis
WP1531: Vitamin D synthesis
WP1566: Citrate cycle (TCA cycle)
WP1584: Type II diabetes mellitus
WP1613: 1,4-Dichlorobenzene degradation
WP1616: ABC transporters
WP1624: Bacterial secretion system
WP1625: Base excision repair
WP1644: DNA replication
WP1650: Fluorobenzoate degradation
WP1654: gamma-Hexachlorocyclohexane degradation
WP1657: Glycerolipid metabolism
WP1659: Glycine, serine and threonine metabolism
WP1661: Glyoxylate and dicarboxylate metabolism

Related Genes :
[BSCL2] Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein)
[Bscl2 Gng3lg MNCb-2630] Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein homolog)
[CAV1 CAV] Caveolin-1
[LMNA LMN1] Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lamin) (Renal carcinoma antigen NY-REN-32)]
[FKTN FCMD] Fukutin (EC 2.4.2.-) (Fukuyama-type congenital muscular dystrophy protein) (Ribitol-5-phosphate transferase)
[CACNA1B CACH5 CACNL1A5] Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)
[KCNJ6 GIRK2 KATP2 KCNJ7] G protein-activated inward rectifier potassium channel 2 (GIRK-2) (BIR1) (Inward rectifier K(+) channel Kir3.2) (KATP-2) (Potassium channel, inwardly rectifying subfamily J member 6)
[PPARG NR1C3] Peroxisome proliferator-activated receptor gamma (PPAR-gamma) (Nuclear receptor subfamily 1 group C member 3)
[Fktn Fcmd] Fukutin (EC 2.4.2.-) (Fukuyama-type congenital muscular dystrophy protein) (Ribitol-5-phosphate transferase)
[FBN1 FBN] Fibrillin-1 [Cleaved into: Asprosin]
[botA atx bna bonT CLM_0897] Botulinum neurotoxin type A2 (BoNT/A) (Bontoxilysin-A) (BOTOX) [Cleaved into: Botulinum neurotoxin A2 light chain (LC) (EC 3.4.24.69); Botulinum neurotoxin A2 heavy chain (HC)]
[NHS] Nance-Horan syndrome protein (Congenital cataracts and dental anomalies protein)
[LCA5 C6orf152] Lebercilin (Leber congenital amaurosis 5 protein)
[botA atx bonT] Botulinum neurotoxin type A (BoNT/A) (Bontoxilysin-A) (BOTOX) (Botulinum neurotoxin type A1) [Cleaved into: Botulinum neurotoxin A light chain (LC) (EC 3.4.24.69); Botulinum neurotoxin A heavy chain (HC)]
[HSD3B2 HSDB3B] 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 (3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II) (3-beta-HSD II) (3-beta-HSD adrenal and gonadal type) [Includes: 3-beta-hydroxy-Delta(5)-steroid dehydrogenase (EC 1.1.1.145) (3-beta-hydroxy-5-ene steroid dehydrogenase) (Progesterone reductase); Steroid Delta-isomerase (EC 5.3.3.1) (Delta-5-3-ketosteroid isomerase)]
[PSMB8 LMP7 PSMB5i RING10 Y2] Proteasome subunit beta type-8 (EC 3.4.25.1) (Low molecular mass protein 7) (Macropain subunit C13) (Multicatalytic endopeptidase complex subunit C13) (Proteasome component C13) (Proteasome subunit beta-5i) (Really interesting new gene 10 protein)
[] Botulinum neurotoxin type C (BoNT/C) (Bontoxilysin-C1) (BoNT/C1) (Botulinum neurotoxin type C1) [Cleaved into: Botulinum neurotoxin C light chain (LC) (EC 3.4.24.69); Botulinum neurotoxin C heavy chain (HC)]
[SPINT2 HAI2 KOP] Kunitz-type protease inhibitor 2 (Hepatocyte growth factor activator inhibitor type 2) (HAI-2) (Placental bikunin)
[PAX6 AN2] Paired box protein Pax-6 (Aniridia type II protein) (Oculorhombin)
[KMT2A ALL1 CXXC7 HRX HTRX MLL MLL1 TRX1] Histone-lysine N-methyltransferase 2A (Lysine N-methyltransferase 2A) (EC 2.1.1.43) (ALL-1) (CXXC-type zinc finger protein 7) (Myeloid/lymphoid or mixed-lineage leukemia) (Myeloid/lymphoid or mixed-lineage leukemia protein 1) (Trithorax-like protein) (Zinc finger protein HRX) [Cleaved into: MLL cleavage product N320 (N-terminal cleavage product of 320 kDa) (p320); MLL cleavage product C180 (C-terminal cleavage product of 180 kDa) (p180)]
[botD] Botulinum neurotoxin type D (BoNT/D) (Bontoxilysin-D) [Cleaved into: Botulinum neurotoxin D light chain (LC) (EC 3.4.24.69); Botulinum neurotoxin D heavy chain (HC)]
[NTRK1 MTC TRK TRKA] High affinity nerve growth factor receptor (EC 2.7.10.1) (Neurotrophic tyrosine kinase receptor type 1) (TRK1-transforming tyrosine kinase protein) (Tropomyosin-related kinase A) (Tyrosine kinase receptor) (Tyrosine kinase receptor A) (Trk-A) (gp140trk) (p140-TrkA)
[botB] Botulinum neurotoxin type B (BoNT/B) (Bontoxilysin-B) [Cleaved into: Botulinum neurotoxin B light chain (LC) (EC 3.4.24.69); Botulinum neurotoxin B heavy chain (HC)]
[botE] Botulinum neurotoxin type E (BoNT/E) (Bontoxilysin-E) [Cleaved into: Botulinum neurotoxin E light chain (LC) (EC 3.4.24.69); Botulinum neurotoxin E heavy chain (HC)]
[B4GALT1 GGTB2] Beta-1,4-galactosyltransferase 1 (Beta-1,4-GalTase 1) (Beta4Gal-T1) (b4Gal-T1) (EC 2.4.1.-) (Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase) (Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase) (EC 2.4.1.38) (Lactose synthase A protein) (EC 2.4.1.22) (N-acetyllactosamine synthase) (EC 2.4.1.90) (Nal synthase) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1) [Cleaved into: Processed beta-1,4-galactosyltransferase 1]
[SCN4A] Sodium channel protein type 4 subunit alpha (SkM1) (Sodium channel protein skeletal muscle subunit alpha) (Sodium channel protein type IV subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.4)
[botA bna CBO0806 CLC_0862] Botulinum neurotoxin type A (BoNT/A) (Bontoxilysin-A) (BOTOX) [Cleaved into: Botulinum neurotoxin A light chain (LC) (EC 3.4.24.69); Botulinum neurotoxin A heavy chain (HC)]
[Srebf1 Srebp1] Sterol regulatory element-binding protein 1 (SREBP-1) (Sterol regulatory element-binding transcription factor 1) [Cleaved into: Processed sterol regulatory element-binding protein 1]
[INSR] Insulin receptor (IR) (EC 2.7.10.1) (CD antigen CD220) [Cleaved into: Insulin receptor subunit alpha; Insulin receptor subunit beta]
[KRT1 KRTA] Keratin, type II cytoskeletal 1 (67 kDa cytokeratin) (Cytokeratin-1) (CK-1) (Hair alpha protein) (Keratin-1) (K1) (Type-II keratin Kb1)

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