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Protein

MANSC domain-containing protein 1

Gene

MANSC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

HGNCiHGNC:25505. MANSC1.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi54682.
OpenTargetsiENSG00000111261.
ENSG00000281818.
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...)Sequence analysis1
Glycosylationi222N-linked (GlcNAc...)Sequence analysis1
Glycosylationi251N-linked (GlcNAc...)Sequence analysis1
Glycosylationi327N-linked (GlcNAc...)Sequence analysis1
Glycosylationi352N-linked (GlcNAc...)Sequence 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. 88 interactors.
IntActiQ9H8J5. 1 interactor.
STRINGi9606.ENSP00000438205.

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

Sequence similaritiesi

Contains 1 MANSC domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiIPR013980. MANSC_dom.
IPR011106. MANSC_N.
[Graphical view]
PfamiPF07502. MANEC. 1 hit.
[Graphical view]
SMARTiSM00765. MANEC. 1 hit.
[Graphical view]
PROSITEiPS50986. MANSC. 1 hit.
[Graphical view]

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 → I.1 PublicationCorresponds to variant rs3741798dbSNPEnsembl.1
Natural variantiVAR_061682141L → V.Corresponds to variant rs34668262dbSNPEnsembl.1
Natural variantiVAR_051151165D → N.Corresponds to variant rs17375215dbSNPEnsembl.1
Natural variantiVAR_021841375N → Y.Corresponds to variant rs3741803dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9H8J5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120101. 88 interactors.
IntActiQ9H8J5. 1 interactor.
STRINGi9606.ENSP00000438205.

PTM databases

iPTMnetiQ9H8J5.
PhosphoSitePlusiQ9H8J5.

Polymorphism and mutation databases

BioMutaiMANSC1.
DMDMi48428493.

Proteomic databases

MaxQBiQ9H8J5.
PaxDbiQ9H8J5.
PeptideAtlasiQ9H8J5.
PRIDEiQ9H8J5.

Protocols and materials databases

DNASUi54682.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi54682.
DisGeNETi54682.
GeneCardsiMANSC1.
HGNCiHGNC:25505. MANSC1.
HPAiHPA007955.
HPA007956.
neXtProtiNX_Q9H8J5.
OpenTargetsiENSG00000111261.
ENSG00000281818.
PharmGKBiPA134948173.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii54682.
PROiQ9H8J5.

Gene expression databases

BgeeiENSG00000111261.
CleanExiHS_MANSC1.
ExpressionAtlasiQ9H8J5. baseline and differential.
GenevisibleiQ9H8J5. HS.

Family and domain databases

InterProiIPR013980. MANSC_dom.
IPR011106. MANSC_N.
[Graphical view]
PfamiPF07502. MANEC. 1 hit.
[Graphical view]
SMARTiSM00765. MANEC. 1 hit.
[Graphical view]
PROSITEiPS50986. MANSC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMANS1_HUMAN
AccessioniPrimary (citable) accession number: Q9H8J5
Secondary accession number(s): Q8NEC1, Q9NW60
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 102 of the entry and version 1 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 12
    Human chromosome 12: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.