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Protein

MANSC domain-containing protein 1

Gene

MANSC1

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

Names & Taxonomyi

Protein namesi
Recommended name:
MANSC domain-containing protein 1
Alternative name(s):
Loss of heterozygosity 12 chromosomal region 3 protein
Gene namesi
Name:MANSC1
Synonyms:LOH12CR3
ORF Names:UNQ316/PRO361
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111261.13
HGNCiHGNC:25505 MANSC1
neXtProtiNX_Q9H8J5

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 385ExtracellularSequence analysisAdd BLAST359
Transmembranei386 – 408HelicalSequence analysisAdd BLAST23
Topological domaini409 – 431CytoplasmicSequence analysisAdd BLAST23

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi54682
OpenTargetsiENSG00000111261
PharmGKBiPA134948173

Polymorphism and mutation databases

BioMutaiMANSC1
DMDMi48428493

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000002163627 – 431MANSC domain-containing protein 1Add BLAST405

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi72N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi222N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi251N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi327N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi352N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9H8J5
PaxDbiQ9H8J5
PeptideAtlasiQ9H8J5
PRIDEiQ9H8J5

PTM databases

iPTMnetiQ9H8J5
PhosphoSitePlusiQ9H8J5

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000111261
CleanExiHS_MANSC1
ExpressionAtlasiQ9H8J5 baseline and differential
GenevisibleiQ9H8J5 HS

Organism-specific databases

HPAiHPA007955
HPA007956

Interactioni

Protein-protein interaction databases

BioGridi120101, 98 interactors
IntActiQ9H8J5, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliQ9H8J5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 117MANSCPROSITE-ProRule annotationAdd BLAST85

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi237 – 332Thr-richAdd BLAST96

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IT12 Eukaryota
ENOG4112D4M LUCA
GeneTreeiENSGT00450000040401
HOGENOMiHOG000113476
HOVERGENiHBG052406
InParanoidiQ9H8J5
OMAiNCYLFFC
OrthoDBiEOG091G0OU5
PhylomeDBiQ9H8J5
TreeFamiTF336966

Family and domain databases

InterProiView protein in InterPro
IPR013980 MANSC_dom
IPR011106 MANSC_N
PfamiView protein in Pfam
PF07502 MANEC, 1 hit
SMARTiView protein in SMART
SM00765 MANEC, 1 hit
PROSITEiView protein in PROSITE
PS50986 MANSC, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H8J5-1) [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

        10         20         30         40         50
MFFGGEGSLT YTLVIICFLT LRLSASQNCL KKSLEDVVID IQSSLSKGIR
60 70 80 90 100
GNEPVYTSTQ EDCINSCCST KNISGDKACN LMIFDTRKTA RQPNCYLFFC
110 120 130 140 150
PNEEACPLKP AKGLMSYRII TDFPSLTRNL PSQELPQEDS LLHGQFSQAV
160 170 180 190 200
TPLAHHHTDY SKPTDISWRD TLSQKFGSSD HLEKLFKMDE ASAQLLAYKE
210 220 230 240 250
KGHSQSSQFS SDQEIAHLLP ENVSALPATV AVASPHTTSA TPKPATLLPT
260 270 280 290 300
NASVTPSGTS QPQLATTAPP VTTVTSQPPT TLISTVFTRA AATLQAMATT
310 320 330 340 350
AVLTTTFQAP TDSKGSLETI PFTEISNLTL NTGNVYNPTA LSMSNVESST
360 370 380 390 400
MNKTASWEGR EASPGSSSQG SVPENQYGLP FEKWLLIGSL LFGVLFLVIG
410 420 430
LVLLGRILSE SLRRKRYSRL DYLINGIYVD I
Length:431
Mass (Da):46,810
Last modified:March 1, 2001 - v1
Checksum:i189136416F0F89AE
GO
Isoform 2 (identifier: Q9H8J5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     14-47: Missing.

Note: No experimental confirmation available.
Show »
Length:397
Mass (Da):43,063
Checksum:iE2FEFF2E61122C62
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02184055V → I1 PublicationCorresponds to variant dbSNP:rs3741798Ensembl.1
Natural variantiVAR_061682141L → V. Corresponds to variant dbSNP:rs34668262Ensembl.1
Natural variantiVAR_051151165D → N. Corresponds to variant dbSNP:rs17375215Ensembl.1
Natural variantiVAR_021841375N → Y. Corresponds to variant dbSNP:rs3741803Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05592714 – 47Missing in isoform 2. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358563 mRNA Translation: AAQ88926.1
AK001160 mRNA Translation: BAA91526.1
AK023622 mRNA Translation: BAB14621.1
AC007621 Genomic DNA No translation available.
CH471094 Genomic DNA Translation: EAW96254.1
BC032998 mRNA Translation: AAH32998.1
CCDSiCCDS8648.1 [Q9H8J5-1]
RefSeqiNP_060520.2, NM_018050.2 [Q9H8J5-1]
XP_016875020.1, XM_017019531.1 [Q9H8J5-2]
UniGeneiHs.591145

Genome annotation databases

EnsembliENST00000396349; ENSP00000379638; ENSG00000111261 [Q9H8J5-2]
ENST00000535902; ENSP00000438205; ENSG00000111261 [Q9H8J5-1]
ENST00000626912; ENSP00000487244; ENSG00000281818 [Q9H8J5-2]
ENST00000629245; ENSP00000487587; ENSG00000281818 [Q9H8J5-1]
GeneIDi54682
KEGGihsa:54682
UCSCiuc001rai.2 human [Q9H8J5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMANS1_HUMAN
AccessioniPrimary (citable) accession number: Q9H8J5
Secondary accession number(s): Q8NEC1, Q9NW60
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: March 1, 2001
Last modified: February 28, 2018
This is version 109 of the entry and version 1 of the sequence. See 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
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Main funding by: National Institutes of Health