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Protein

VIP36-like protein

Gene

LMAN2L

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

Functioni

May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei93CarbohydratePROSITE-ProRule annotation1
Binding sitei128CarbohydratePROSITE-ProRule annotation1
Metal bindingi159CalciumPROSITE-ProRule annotation1
Metal bindingi161CalciumPROSITE-ProRule annotation1
Metal bindingi163CalciumPROSITE-ProRule annotation1
Binding sitei188CarbohydratePROSITE-ProRule annotation1
Metal bindingi191CalciumPROSITE-ProRule annotation1

GO - Molecular functioni

  • mannose binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

  • endoplasmic reticulum organization Source: GO_Central
  • ER to Golgi vesicle-mediated transport Source: UniProtKB
  • Golgi organization Source: GO_Central
  • protein folding Source: UniProtKB
  • protein transport Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Lectin, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.
R-HSA-5694530. Cargo concentration in the ER.

Names & Taxonomyi

Protein namesi
Recommended name:
VIP36-like protein
Alternative name(s):
Lectin mannose-binding 2-like
Short name:
LMAN2-like protein
Gene namesi
Name:LMAN2L
Synonyms:VIPL
ORF Names:PSEC0028, UNQ368/PRO704
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:19263. LMAN2L.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini45 – 313LumenalSequence analysisAdd BLAST269
Transmembranei314 – 336HelicalSequence analysisAdd BLAST23
Topological domaini337 – 348CytoplasmicSequence analysisAdd BLAST12

GO - Cellular componenti

  • endoplasmic reticulum-Golgi intermediate compartment Source: GO_Central
  • endoplasmic reticulum membrane Source: UniProtKB
  • ER to Golgi transport vesicle Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • Golgi membrane Source: GO_Central
  • integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 52 (MRT52)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood.
See also OMIM:616887
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07642953R → Q in MRT52; no effect on general protein glycosylation. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi344 – 346RKR → SSS: Loss of ER retention. 1 Publication3

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi81562.
MIMi616887. phenotype.
OpenTargetsiENSG00000114988.
PharmGKBiPA134937652.

Polymorphism and mutation databases

BioMutaiLMAN2L.
DMDMi29611906.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 44Sequence analysisAdd BLAST44
ChainiPRO_000001766845 – 348VIP36-like proteinAdd BLAST304

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi181N-linked (GlcNAc...) (high mannose)1 Publication1
Disulfide bondi200 ↔ 237PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9H0V9.
MaxQBiQ9H0V9.
PaxDbiQ9H0V9.
PeptideAtlasiQ9H0V9.
PRIDEiQ9H0V9.
TopDownProteomicsiQ9H0V9-1. [Q9H0V9-1]
Q9H0V9-2. [Q9H0V9-2]

PTM databases

iPTMnetiQ9H0V9.
PhosphoSitePlusiQ9H0V9.
SwissPalmiQ9H0V9.

Expressioni

Tissue specificityi

Expressed in numerous tissues. Highest expression in skeletal muscle and kidney, intermediate levels in heart, liver and placenta, low levels in brain, thymus, spleen, small intestine and lung.1 Publication

Gene expression databases

BgeeiENSG00000114988.
CleanExiHS_LMAN2L.
ExpressionAtlasiQ9H0V9. baseline and differential.
GenevisibleiQ9H0V9. HS.

Organism-specific databases

HPAiHPA026600.

Interactioni

Protein-protein interaction databases

BioGridi123525. 35 interactors.
IntActiQ9H0V9. 3 interactors.
MINTiMINT-5003536.
STRINGi9606.ENSP00000366280.

Structurei

3D structure databases

ProteinModelPortaliQ9H0V9.
SMRiQ9H0V9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 274L-type lectin-likePROSITE-ProRule annotationAdd BLAST226

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni161 – 163Carbohydrate bindingPROSITE-ProRule annotation3
Regioni258 – 260Carbohydrate bindingPROSITE-ProRule annotation3

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi344 – 346Endoplasmic reticulum retention signal3

Sequence similaritiesi

Contains 1 L-type lectin-like domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3839. Eukaryota.
ENOG410YH8V. LUCA.
GeneTreeiENSGT00530000062977.
HOGENOMiHOG000164540.
HOVERGENiHBG052334.
InParanoidiQ9H0V9.
KOiK10083.
OMAiGQGPQQV.
OrthoDBiEOG091G0AZ1.
PhylomeDBiQ9H0V9.
TreeFamiTF313311.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
InterProiIPR013320. ConA-like_dom.
IPR005052. Lectin_leg.
[Graphical view]
PfamiPF03388. Lectin_leg-like. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS51328. L_LECTIN_LIKE. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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

Isoform 1 (identifier: Q9H0V9-1) [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
MAATLGPLGS WQQWRRCLSA RDGSRMLLLL LLLGSGQGPQ QVGAGQTFEY
60 70 80 90 100
LKREHSLSKP YQGVGTGSSS LWNLMGNAMV MTQYIRLTPD MQSKQGALWN
110 120 130 140 150
RVPCFLRDWE LQVHFKIHGQ GKKNLHGDGL AIWYTKDRMQ PGPVFGNMDK
160 170 180 190 200
FVGLGVFVDT YPNEEKQQER VFPYISAMVN NGSLSYDHER DGRPTELGGC
210 220 230 240 250
TAIVRNLHYD TFLVIRYVKR HLTIMMDIDG KHEWRDCIEV PGVRLPRGYY
260 270 280 290 300
FGTSSITGDL SDNHDVISLK LFELTVERTP EEEKLHRDVF LPSVDNMKLP
310 320 330 340
EMTAPLPPLS GLALFLIVFF SLVFSVFAIV IGIILYNKWQ EQSRKRFY
Length:348
Mass (Da):39,711
Last modified:March 1, 2001 - v1
Checksum:iF79382E20AE67751
GO
Isoform 2 (identifier: Q9H0V9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     169-169: E → EAQKRRYSPGVQ

Show »
Length:359
Mass (Da):40,982
Checksum:iAD6D7005E85787B1
GO
Isoform 3 (identifier: Q9H0V9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MAATLGPLGSWQQWRRCLSARDGSRMLLLLLLLGS → MDKERRICMGMAWQSGTQRIGCSQAQKRRYSPGVQ
     36-169: Missing.

Note: No experimental confirmation available.
Show »
Length:214
Mass (Da):24,712
Checksum:iCBAA3745F78E3D39
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4T → A in BAC11559 (PubMed:16303743).Curated1
Sequence conflicti69S → P in BAD96548 (Ref. 5) Curated1
Sequence conflicti288D → G in BAC11559 (PubMed:16303743).Curated1
Sequence conflicti345K → R in BAD96548 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07642953R → Q in MRT52; no effect on general protein glycosylation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0544391 – 35MAATL…LLLGS → MDKERRICMGMAWQSGTQRI GCSQAQKRRYSPGVQ in isoform 3. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_05444036 – 169Missing in isoform 3. 1 PublicationAdd BLAST134
Alternative sequenceiVSP_017940169E → EAQKRRYSPGVQ in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ549957 mRNA. Translation: CAD71268.1.
AL136617 mRNA. Translation: CAB66552.1.
AY358929 mRNA. Translation: AAQ89288.1.
AK299740 mRNA. Translation: BAG61635.1.
AK222828 mRNA. Translation: BAD96548.1.
AK075347 mRNA. Translation: BAC11559.1.
BX648002 mRNA. Translation: CAH56196.1.
AC068539 Genomic DNA. Translation: AAX93211.1.
CH471207 Genomic DNA. Translation: EAW71341.1.
CH471207 Genomic DNA. Translation: EAW71343.1.
BC000347 mRNA. Translation: AAH00347.2.
BC005822 mRNA. Translation: AAH05822.2.
BC005862 mRNA. Translation: AAH05862.2.
BC067265 mRNA. Translation: AAH67265.1.
CCDSiCCDS2023.1. [Q9H0V9-1]
CCDS46365.1. [Q9H0V9-2]
RefSeqiNP_001135764.1. NM_001142292.1. [Q9H0V9-2]
NP_001309275.1. NM_001322346.1. [Q9H0V9-3]
NP_001309276.1. NM_001322347.1.
NP_001309279.1. NM_001322350.1.
NP_001309280.1. NM_001322351.1.
NP_001309283.1. NM_001322354.1. [Q9H0V9-3]
NP_110432.1. NM_030805.3. [Q9H0V9-1]
UniGeneiHs.655743.

Genome annotation databases

EnsembliENST00000264963; ENSP00000264963; ENSG00000114988. [Q9H0V9-1]
ENST00000377079; ENSP00000366280; ENSG00000114988. [Q9H0V9-2]
GeneIDi81562.
KEGGihsa:81562.
UCSCiuc002swu.4. human. [Q9H0V9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ549957 mRNA. Translation: CAD71268.1.
AL136617 mRNA. Translation: CAB66552.1.
AY358929 mRNA. Translation: AAQ89288.1.
AK299740 mRNA. Translation: BAG61635.1.
AK222828 mRNA. Translation: BAD96548.1.
AK075347 mRNA. Translation: BAC11559.1.
BX648002 mRNA. Translation: CAH56196.1.
AC068539 Genomic DNA. Translation: AAX93211.1.
CH471207 Genomic DNA. Translation: EAW71341.1.
CH471207 Genomic DNA. Translation: EAW71343.1.
BC000347 mRNA. Translation: AAH00347.2.
BC005822 mRNA. Translation: AAH05822.2.
BC005862 mRNA. Translation: AAH05862.2.
BC067265 mRNA. Translation: AAH67265.1.
CCDSiCCDS2023.1. [Q9H0V9-1]
CCDS46365.1. [Q9H0V9-2]
RefSeqiNP_001135764.1. NM_001142292.1. [Q9H0V9-2]
NP_001309275.1. NM_001322346.1. [Q9H0V9-3]
NP_001309276.1. NM_001322347.1.
NP_001309279.1. NM_001322350.1.
NP_001309280.1. NM_001322351.1.
NP_001309283.1. NM_001322354.1. [Q9H0V9-3]
NP_110432.1. NM_030805.3. [Q9H0V9-1]
UniGeneiHs.655743.

3D structure databases

ProteinModelPortaliQ9H0V9.
SMRiQ9H0V9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123525. 35 interactors.
IntActiQ9H0V9. 3 interactors.
MINTiMINT-5003536.
STRINGi9606.ENSP00000366280.

PTM databases

iPTMnetiQ9H0V9.
PhosphoSitePlusiQ9H0V9.
SwissPalmiQ9H0V9.

Polymorphism and mutation databases

BioMutaiLMAN2L.
DMDMi29611906.

Proteomic databases

EPDiQ9H0V9.
MaxQBiQ9H0V9.
PaxDbiQ9H0V9.
PeptideAtlasiQ9H0V9.
PRIDEiQ9H0V9.
TopDownProteomicsiQ9H0V9-1. [Q9H0V9-1]
Q9H0V9-2. [Q9H0V9-2]

Protocols and materials databases

DNASUi81562.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264963; ENSP00000264963; ENSG00000114988. [Q9H0V9-1]
ENST00000377079; ENSP00000366280; ENSG00000114988. [Q9H0V9-2]
GeneIDi81562.
KEGGihsa:81562.
UCSCiuc002swu.4. human. [Q9H0V9-1]

Organism-specific databases

CTDi81562.
DisGeNETi81562.
GeneCardsiLMAN2L.
HGNCiHGNC:19263. LMAN2L.
HPAiHPA026600.
MIMi609552. gene.
616887. phenotype.
neXtProtiNX_Q9H0V9.
OpenTargetsiENSG00000114988.
PharmGKBiPA134937652.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3839. Eukaryota.
ENOG410YH8V. LUCA.
GeneTreeiENSGT00530000062977.
HOGENOMiHOG000164540.
HOVERGENiHBG052334.
InParanoidiQ9H0V9.
KOiK10083.
OMAiGQGPQQV.
OrthoDBiEOG091G0AZ1.
PhylomeDBiQ9H0V9.
TreeFamiTF313311.

Enzyme and pathway databases

ReactomeiR-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.
R-HSA-5694530. Cargo concentration in the ER.

Miscellaneous databases

ChiTaRSiLMAN2L. human.
GeneWikiiLMAN2L.
GenomeRNAii81562.
PROiQ9H0V9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114988.
CleanExiHS_LMAN2L.
ExpressionAtlasiQ9H0V9. baseline and differential.
GenevisibleiQ9H0V9. HS.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
InterProiIPR013320. ConA-like_dom.
IPR005052. Lectin_leg.
[Graphical view]
PfamiPF03388. Lectin_leg-like. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS51328. L_LECTIN_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLMA2L_HUMAN
AccessioniPrimary (citable) accession number: Q9H0V9
Secondary accession number(s): B4DSH3
, D3DXH6, Q53GV3, Q53S67, Q63HN6, Q8NBQ6, Q9BQ14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 4, 2003
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 150 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 2
    Human chromosome 2: 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.