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Protein

Protein Lines homolog 1

Gene

LINS1

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

Functioni

GO - Biological processi

  • cognition Source: HGNC

Names & Taxonomyi

Protein namesi
Recommended name:
Protein Lines homolog 1Imported
Alternative name(s):
Wnt-signaling molecule Lines homolog 1Curated
Gene namesi
Name:LINS1Imported
Synonyms:LINSCurated, WINS1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000140471.16
HGNCiHGNC:30922 LINS1
MIMi610350 gene
neXtProtiNX_Q8NG48

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 27 (MRT27)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:614340
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078341313E → K in MRT27; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519019Ensembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi55180
MalaCardsiLINS1
MIMi614340 phenotype
OpenTargetsiENSG00000140471
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA142671544

Polymorphism and mutation databases

BioMutaiLINS1
DMDMi317373380

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003177491 – 757Protein Lines homolog 1Add BLAST757

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei635PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8NG48
PaxDbiQ8NG48
PeptideAtlasiQ8NG48
PRIDEiQ8NG48

PTM databases

iPTMnetiQ8NG48
PhosphoSitePlusiQ8NG48

Expressioni

Tissue specificityi

Expressed in adult testis, prostate, prostate, spleen, thymus, skeletal muscle, fetal kidney and brain.1 Publication

Gene expression databases

BgeeiENSG00000140471
CleanExiHS_LINS1
ExpressionAtlasiQ8NG48 baseline and differential
GenevisibleiQ8NG48 HS

Organism-specific databases

HPAiHPA038578
HPA038579

Interactioni

Protein-protein interaction databases

BioGridi120479, 4 interactors
IntActiQ8NG48, 1 interactor
STRINGi9606.ENSP00000318423

Structurei

3D structure databases

ProteinModelPortaliQ8NG48
SMRiQ8NG48
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the protein lines family.Curated

Phylogenomic databases

eggNOGiENOG410IVK7 Eukaryota
ENOG410XSHH LUCA
GeneTreeiENSGT00390000001790
HOVERGENiHBG071668
InParanoidiQ8NG48
KOiK22533
OMAiCFLEYFV
OrthoDBiEOG091G023I
PhylomeDBiQ8NG48
TreeFamiTF332955

Family and domain databases

InterProiView protein in InterPro
IPR029415 Lines_C
IPR032794 LINES_N
IPR024875 Protein_Lines
PANTHERiPTHR16057 PTHR16057, 1 hit
PfamiView protein in Pfam
PF14695 LINES_C, 1 hit
PF14694 LINES_N, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NG48-1) [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
MKVFCEVLEE LYKKVLLGAT LENDSHDYIF YLNPAVSDQD CSTATSLEWA
60 70 80 90 100
NTCGIQGRHQ PISVGVAPIA VAPVCLKTNS QMSGSREVML LQLTVIKVMT
110 120 130 140 150
TRILSVKTEF HAKEQYRDVI KILLESAKVD SKLICMFQNS DKLLSHMAAQ
160 170 180 190 200
CLALLLYFQL REKITLSNSW IAFCQKNLSE YSESNKAIYC LWTLTAIIKE
210 220 230 240 250
IFKDSCSQKT EILKQFLTHF DTIFEVFYNS LFSQHFENCR DTSKIVNILM
260 270 280 290 300
CFLDLLELLI ASRIHLKLHF TCQRILFLKP SCMLEVITWP IQAFVKRKVI
310 320 330 340 350
IFLKKCLLCK VGEDLCRGSV PALMPPDHHV AVDMLALANA VLQAVNSGLL
360 370 380 390 400
KTLSVYEKHS FFGGDEVQPE CELITSPDHV ILRAASLVIM KSLEIKFQNY
410 420 430 440 450
SSASEVKVDL QRFMSELLTF LKPHLQPSLQ LHNPCKWLSR VFIEQDDDML
460 470 480 490 500
EAAKASLGIY LTLTRGCEAT ESLTQGKEMW DHHTHENGYN PHCIFLFFLK
510 520 530 540 550
NIGFDSTVLL DFLISSETCF LEYFVRYLKL LQKDWDNFFT ICNNFDATES
560 570 580 590 600
KYDISICGCV PSLVQDQSSN QTIPHRLTAP HSHRDVCARH SWASDAPSEP
610 620 630 640 650
LKAVMSKGAH TMCASSLSSP RASQSLVDYD SSDDSDVEST EQCLANSKQT
660 670 680 690 700
SLHQQATKEI QDAAGTSRDK KEFSLEPPSR PLVLKEFDTA FSFDCEVAPN
710 720 730 740 750
DVVSEVGIFY RIVKCFQELQ DAICRLQKKN LFPYNPTALL KLLKYIEVIS

NKTMNTL
Length:757
Mass (Da):85,857
Last modified:January 11, 2011 - v2
Checksum:i95A40879A494BB8F
GO
Isoform 2 (identifier: Q8NG48-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     408-436: VDLQRFMSELLTFLKPHLQPSLQLHNPCK → GNSPNSFCMQCVIIYLSTVIHNYQISGLV
     437-757: Missing.

Note: No experimental confirmation available.
Show »
Length:436
Mass (Da):49,325
Checksum:i16AE9A927FEA1FAB
GO
Isoform 3 (identifier: Q8NG48-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     408-409: VD → GA
     410-757: Missing.

Note: No experimental confirmation available.
Show »
Length:409
Mass (Da):46,269
Checksum:i3960324BEBDD4894
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03866829I → V1 PublicationCorresponds to variant dbSNP:rs11247226Ensembl.1
Natural variantiVAR_078341313E → K in MRT27; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519019Ensembl.1
Natural variantiVAR_038669331A → V. Corresponds to variant dbSNP:rs34967129Ensembl.1
Natural variantiVAR_038670406V → M2 PublicationsCorresponds to variant dbSNP:rs12719734Ensembl.1
Natural variantiVAR_038671472S → T. Corresponds to variant dbSNP:rs2411837Ensembl.1
Natural variantiVAR_038672541I → V. Corresponds to variant dbSNP:rs12915007Ensembl.1
Natural variantiVAR_038673641E → D. Corresponds to variant dbSNP:rs12157Ensembl.1
Natural variantiVAR_038674680R → S. Corresponds to variant dbSNP:rs8451Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_031142408 – 436VDLQR…HNPCK → GNSPNSFCMQCVIIYLSTVI HNYQISGLV in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_031143408 – 409VD → GA in isoform 3. 1 Publication2
Alternative sequenceiVSP_031144410 – 757Missing in isoform 3. 1 PublicationAdd BLAST348
Alternative sequenceiVSP_031145437 – 757Missing in isoform 2. 1 PublicationAdd BLAST321

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB083157 mRNA Translation: BAB93864.1
AK001445 mRNA Translation: BAA91696.1
AK292972 mRNA Translation: BAF85661.1
AC027020 Genomic DNA No translation available.
AC090695 Genomic DNA No translation available.
CCDSiCCDS10385.1 [Q8NG48-1]
RefSeqiNP_001035706.1, NM_001040616.2
XP_005254998.1, XM_005254941.1 [Q8NG48-1]
UniGeneiHs.105633

Genome annotation databases

EnsembliENST00000314742; ENSP00000318423; ENSG00000140471 [Q8NG48-1]
ENST00000561308; ENSP00000454200; ENSG00000140471 [Q8NG48-2]
GeneIDi55180
KEGGihsa:55180
UCSCiuc002bwg.4 human [Q8NG48-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLINES_HUMAN
AccessioniPrimary (citable) accession number: Q8NG48
Secondary accession number(s): Q96FW2, Q9NVQ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: January 11, 2011
Last modified: May 23, 2018
This is version 101 of the entry and version 2 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

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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