Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein Lines homolog 1

Gene

LINS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

  • cognition Source: HGNC
Complete GO annotation...

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

HGNCiHGNC:30922. LINS1.

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 27 (MRT27)2 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

Keywords - Diseasei

Mental retardation

Organism-specific databases

MalaCardsiLINS.
MIMi614340. phenotype.
Orphaneti88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBiPA142671544.

Polymorphism and mutation databases

BioMutaiLINS1.
DMDMi317373380.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 757757Protein Lines homolog 1PRO_0000317749Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei635 – 6351PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8NG48.
PaxDbiQ8NG48.
PRIDEiQ8NG48.

PTM databases

iPTMnetiQ8NG48.
PhosphoSiteiQ8NG48.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ8NG48.
CleanExiHS_LINS1.
ExpressionAtlasiQ8NG48. baseline and differential.
GenevisibleiQ8NG48. HS.

Organism-specific databases

HPAiHPA038578.
HPA038579.

Interactioni

Protein-protein interaction databases

BioGridi120479. 3 interactions.
STRINGi9606.ENSP00000318423.

Structurei

3D structure databases

ProteinModelPortaliQ8NG48.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the protein lines family.Curated

Phylogenomic databases

eggNOGiENOG410IVK7. Eukaryota.
ENOG410XSHH. LUCA.
GeneTreeiENSGT00390000001790.
HOVERGENiHBG071668.
InParanoidiQ8NG48.
OMAiTLSNSWI.
OrthoDBiEOG70087K.
PhylomeDBiQ8NG48.
TreeFamiTF332955.

Family and domain databases

InterProiIPR029415. Lines_C.
IPR032794. LINES_N.
IPR024875. Protein_Lines.
[Graphical view]
PANTHERiPTHR16057. PTHR16057. 3 hits.
PfamiPF14695. LINES_C. 1 hit.
PF14694. LINES_N. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti29 – 291I → V.1 Publication
Corresponds to variant rs11247226 [ dbSNP | Ensembl ].
VAR_038668
Natural varianti331 – 3311A → V.
Corresponds to variant rs34967129 [ dbSNP | Ensembl ].
VAR_038669
Natural varianti406 – 4061V → M.2 Publications
Corresponds to variant rs12719734 [ dbSNP | Ensembl ].
VAR_038670
Natural varianti472 – 4721S → T.
Corresponds to variant rs2411837 [ dbSNP | Ensembl ].
VAR_038671
Natural varianti541 – 5411I → V.
Corresponds to variant rs12915007 [ dbSNP | Ensembl ].
VAR_038672
Natural varianti641 – 6411E → D.
Corresponds to variant rs12157 [ dbSNP | Ensembl ].
VAR_038673
Natural varianti680 – 6801R → S.
Corresponds to variant rs8451 [ dbSNP | Ensembl ].
VAR_038674

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei408 – 43629VDLQR…HNPCK → GNSPNSFCMQCVIIYLSTVI HNYQISGLV in isoform 2. 1 PublicationVSP_031142Add
BLAST
Alternative sequencei408 – 4092VD → GA in isoform 3. 1 PublicationVSP_031143
Alternative sequencei410 – 757348Missing in isoform 3. 1 PublicationVSP_031144Add
BLAST
Alternative sequencei437 – 757321Missing in isoform 2. 1 PublicationVSP_031145Add
BLAST

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.
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

Cross-referencesi

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.
UniGeneiHs.105633.

3D structure databases

ProteinModelPortaliQ8NG48.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120479. 3 interactions.
STRINGi9606.ENSP00000318423.

PTM databases

iPTMnetiQ8NG48.
PhosphoSiteiQ8NG48.

Polymorphism and mutation databases

BioMutaiLINS1.
DMDMi317373380.

Proteomic databases

MaxQBiQ8NG48.
PaxDbiQ8NG48.
PRIDEiQ8NG48.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55180.
GeneCardsiLINS.
HGNCiHGNC:30922. LINS1.
HPAiHPA038578.
HPA038579.
MalaCardsiLINS.
MIMi610350. gene.
614340. phenotype.
neXtProtiNX_Q8NG48.
Orphaneti88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBiPA142671544.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVK7. Eukaryota.
ENOG410XSHH. LUCA.
GeneTreeiENSGT00390000001790.
HOVERGENiHBG071668.
InParanoidiQ8NG48.
OMAiTLSNSWI.
OrthoDBiEOG70087K.
PhylomeDBiQ8NG48.
TreeFamiTF332955.

Miscellaneous databases

ChiTaRSiLINS. human.
GenomeRNAii55180.
PROiQ8NG48.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NG48.
CleanExiHS_LINS1.
ExpressionAtlasiQ8NG48. baseline and differential.
GenevisibleiQ8NG48. HS.

Family and domain databases

InterProiIPR029415. Lines_C.
IPR032794. LINES_N.
IPR024875. Protein_Lines.
[Graphical view]
PANTHERiPTHR16057. PTHR16057. 3 hits.
PfamiPF14695. LINES_C. 1 hit.
PF14694. LINES_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of human WINS1 and mouse Wins2, homologous to Drosophila segment polarity gene Lines (Lin)."
    Katoh M.
    Int. J. Mol. Med. 10:155-159(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT MET-406.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    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.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANTS VAL-29 AND MET-406.
  3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: INVOLVEMENT IN MRT27.
  5. "LINS, a modulator of the WNT signaling pathway, is involved in human cognition."
    Akawi N.A., Al-Jasmi F., Al-Shamsi A.M., Ali B.R., Al-Gazali L.
    Orphanet J. Rare Dis. 8:87-87(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MRT27.

Entry informationi

Entry nameiLINES_HUMAN
AccessioniPrimary (citable) accession number: Q8NG48
Secondary accession number(s): Q96FW2, Q9NVQ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: January 11, 2011
Last modified: June 8, 2016
This is version 87 of the entry and version 2 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 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

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.