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Protein
Submitted name:

Berardinelli-Seip congenital lipodystrophy 2 isoform 1

Gene

BSCL2

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Submitted name:
Berardinelli-Seip congenital lipodystrophy 2 isoform 1Imported
Submitted name:
HCG2020143, isoform CRA_aImported
Gene namesi
Name:BSCL2Imported
ORF Names:hCG_2020143Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Organism-specific databases

EuPathDBiHostDB:ENSG00000168000.14

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei27 – 49HelicalSequence analysisAdd BLAST23
Transmembranei230 – 255HelicalSequence analysisAdd BLAST26

Keywords - Cellular componenti

Membrane

PTM / Processingi

Proteomic databases

PRIDEiA0A024R549

Expressioni

Gene expression databases

BgeeiENSG00000168000 Expressed in 96 organ(s), highest expression level in testis
ExpressionAtlasiA0A024R549 baseline and differential

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helixSequence analysis

Phylogenomic databases

eggNOGiKOG4200 Eukaryota
ENOG4111GRP LUCA
KOiK19365

Family and domain databases

InterProiView protein in InterPro
IPR009617 Seipin
PANTHERiPTHR21212 PTHR21212, 1 hit
PfamiView protein in Pfam
PF06775 Seipin, 1 hit

Sequencei

Sequence statusi: Complete.

A0A024R549-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG
60 70 80 90 100
SFYYSYMPTV SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL
110 120 130 140 150
MYGQPYRVTL ELELPESPVN QDLGMFLVTI SCYTRGGRII STSSRSVMLH
160 170 180 190 200
YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE VELYADYREN SYVPTTGAII
210 220 230 240 250
EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA SNFTFLSVIV
260 270 280 290 300
LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE
310 320 330 340 350
STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG
360 370 380 390
SWEDAALLTE ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS
Length:398
Mass (Da):44,392
Last modified:July 9, 2014 - v1
Checksum:i9FB1B37E72493DB9
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Non-terminal residuei398Imported1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
KU178595 mRNA Translation: ALQ34053.1
CH471076 Genomic DNA Translation: EAW74075.1
RefSeqiNP_116056.3, NM_032667.6
UniGeneiHs.533709

Genome annotation databases

GeneIDi26580
KEGGihsa:26580

Similar proteinsi

Entry informationi

Entry nameiA0A024R549_HUMAN
AccessioniPrimary (citable) accession number: A0A024R549
Entry historyiIntegrated into UniProtKB/TrEMBL: July 9, 2014
Last sequence update: July 9, 2014
Last modified: September 12, 2018
This is version 34 of the entry and version 1 of the sequence. See complete history.
Entry statusiUnreviewed (UniProtKB/TrEMBL)
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.
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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