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Protein

Immunoglobulin lambda-like polypeptide 1

Gene

IGLL1

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

Functioni

Critical for B-cell development.1 Publication

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-202733 Cell surface interactions at the vascular wall

Names & Taxonomyi

Protein namesi
Recommended name:
Immunoglobulin lambda-like polypeptide 1
Alternative name(s):
CD179 antigen-like family member B
Ig lambda-5
Immunoglobulin omega polypeptide
Immunoglobulin-related protein 14.1
CD_antigen: CD179b
Gene namesi
Name:IGLL1
Synonyms:IGL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000128322.6
HGNCiHGNC:5870 IGLL1
MIMi146770 gene
neXtProtiNX_P15814

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Agammaglobulinemia 2, autosomal recessive (AGM2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
See also OMIM:613500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034869142P → L in AGM2. 1 PublicationCorresponds to variant dbSNP:rs1064422EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3543
MalaCardsiIGLL1
MIMi613500 phenotype
OpenTargetsiENSG00000128322
Orphaneti33110 Autosomal agammaglobulinemia
PharmGKBiPA29756

Polymorphism and mutation databases

BioMutaiIGLL1
DMDMi123944

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 37Sequence analysisAdd BLAST37
ChainiPRO_000001477738 – 213Immunoglobulin lambda-like polypeptide 1Add BLAST176

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi135 ↔ 194PROSITE-ProRule annotation1 Publication
Disulfide bondi212Interchain (with a heavy chain)PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

MaxQBiP15814
PaxDbiP15814
PeptideAtlasiP15814
PRIDEiP15814
ProteomicsDBi53223
53224 [P15814-2]

PTM databases

iPTMnetiP15814
PhosphoSitePlusiP15814

Expressioni

Tissue specificityi

Expressed only in pre-B-cells and a special B-cell line (which is surface Ig negative).1 Publication

Gene expression databases

BgeeiENSG00000128322 Expressed in 61 organ(s), highest expression level in bone marrow
CleanExiHS_IGLL1
ExpressionAtlasiP15814 baseline and differential
GenevisibleiP15814 HS

Organism-specific databases

HPAiHPA051134
HPA071406

Interactioni

Subunit structurei

Associates non-covalently with VPREB1.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109759, 3 interactors
CORUMiP15814
IntActiP15814, 6 interactors
MINTiP15814
STRINGi9606.ENSP00000329312

Structurei

Secondary structure

1213
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP15814
SMRiP15814
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP15814

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini114 – 208Ig-like C1-typeAdd BLAST95

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni97 – 108J region (By similarity to lambda light-chain)Add BLAST12
Regioni109 – 213C region (By similarity to lambda light-chain)Add BLAST105

Keywords - Domaini

Immunoglobulin domain, Signal

Phylogenomic databases

eggNOGiENOG410J0XA Eukaryota
ENOG410YZ00 LUCA
GeneTreeiENSGT00730000110696
HOGENOMiHOG000119396
HOVERGENiHBG108319
InParanoidiP15814
KOiK06554
OMAiKHNSVTH
OrthoDBiEOG091G0XV9
PhylomeDBiP15814
TreeFamiTF335549

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
IPR003597 Ig_C1-set
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
SMARTiView protein in SMART
SM00407 IGc1, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS00290 IG_MHC, 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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P15814-1) [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
MRPGTGQGGL EAPGEPGPNL RQRWPLLLLG LAVVTHGLLR PTAASQSRAL
60 70 80 90 100
GPGAPGGSSR SSLRSRWGRF LLQRGSWTGP RCWPRGFQSK HNSVTHVFGS
110 120 130 140 150
GTQLTVLSQP KATPSVTLFP PSSEELQANK ATLVCLMNDF YPGILTVTWK
160 170 180 190 200
ADGTPITQGV EMTTPSKQSN NKYAASSYLS LTPEQWRSRR SYSCQVMHEG
210
STVEKTVAPA ECS
Length:213
Mass (Da):22,963
Last modified:April 1, 1990 - v1
Checksum:i9133A7742B943C79
GO
Isoform 2 (identifier: P15814-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-213: FLLQRGSWTG...EKTVAPAECS → SAQGHPLGHSVPAVL

Note: No experimental confirmation available.
Show »
Length:84
Mass (Da):8,574
Checksum:i60CEE4A92442032A
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JEE0C9JEE0_HUMAN
Immunoglobulin lambda-like polypept...
IGLL1
180Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034869142P → L in AGM2. 1 PublicationCorresponds to variant dbSNP:rs1064422EnsemblClinVar.1
Natural variantiVAR_059392189R → H. Corresponds to variant dbSNP:rs8138122EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04274870 – 213FLLQR…PAECS → SAQGHPLGHSVPAVL in isoform 2. 1 PublicationAdd BLAST144

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M27749 mRNA Translation: AAA36100.1
M34513, M34511, M34512 Genomic DNA Translation: AAA36096.1
AP000345 Genomic DNA No translation available.
BC030239 mRNA Translation: AAH30239.2
BC012293 mRNA Translation: AAH12293.1
X03528 Genomic DNA Translation: CAA27229.1
X03530 Genomic DNA Translation: CAA27231.1
CCDSiCCDS13809.1 [P15814-1]
CCDS13810.1 [P15814-2]
PIRiA33911
RefSeqiNP_064455.1, NM_020070.3 [P15814-1]
NP_690594.1, NM_152855.2 [P15814-2]
UniGeneiHs.348935

Genome annotation databases

EnsembliENST00000249053; ENSP00000249053; ENSG00000128322 [P15814-2]
ENST00000330377; ENSP00000329312; ENSG00000128322 [P15814-1]
GeneIDi3543
KEGGihsa:3543
UCSCiuc002zxd.4 human [P15814-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

IGLL1base

IGLL1 mutation db

Wikipedia

IGLL1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M27749 mRNA Translation: AAA36100.1
M34513, M34511, M34512 Genomic DNA Translation: AAA36096.1
AP000345 Genomic DNA No translation available.
BC030239 mRNA Translation: AAH30239.2
BC012293 mRNA Translation: AAH12293.1
X03528 Genomic DNA Translation: CAA27229.1
X03530 Genomic DNA Translation: CAA27231.1
CCDSiCCDS13809.1 [P15814-1]
CCDS13810.1 [P15814-2]
PIRiA33911
RefSeqiNP_064455.1, NM_020070.3 [P15814-1]
NP_690594.1, NM_152855.2 [P15814-2]
UniGeneiHs.348935

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2H32X-ray2.70B93-213[»]
2H3NX-ray2.30B/D94-209[»]
2LKQNMR-A59-82[»]
ProteinModelPortaliP15814
SMRiP15814
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109759, 3 interactors
CORUMiP15814
IntActiP15814, 6 interactors
MINTiP15814
STRINGi9606.ENSP00000329312

PTM databases

iPTMnetiP15814
PhosphoSitePlusiP15814

Polymorphism and mutation databases

BioMutaiIGLL1
DMDMi123944

Proteomic databases

MaxQBiP15814
PaxDbiP15814
PeptideAtlasiP15814
PRIDEiP15814
ProteomicsDBi53223
53224 [P15814-2]

Protocols and materials databases

DNASUi3543
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000249053; ENSP00000249053; ENSG00000128322 [P15814-2]
ENST00000330377; ENSP00000329312; ENSG00000128322 [P15814-1]
GeneIDi3543
KEGGihsa:3543
UCSCiuc002zxd.4 human [P15814-1]

Organism-specific databases

CTDi3543
DisGeNETi3543
EuPathDBiHostDB:ENSG00000128322.6
GeneCardsiIGLL1
HGNCiHGNC:5870 IGLL1
HPAiHPA051134
HPA071406
MalaCardsiIGLL1
MIMi146770 gene
613500 phenotype
neXtProtiNX_P15814
OpenTargetsiENSG00000128322
Orphaneti33110 Autosomal agammaglobulinemia
PharmGKBiPA29756
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J0XA Eukaryota
ENOG410YZ00 LUCA
GeneTreeiENSGT00730000110696
HOGENOMiHOG000119396
HOVERGENiHBG108319
InParanoidiP15814
KOiK06554
OMAiKHNSVTH
OrthoDBiEOG091G0XV9
PhylomeDBiP15814
TreeFamiTF335549

Enzyme and pathway databases

ReactomeiR-HSA-202733 Cell surface interactions at the vascular wall

Miscellaneous databases

EvolutionaryTraceiP15814
GeneWikiiIGLL1
GenomeRNAii3543
PROiPR:P15814
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128322 Expressed in 61 organ(s), highest expression level in bone marrow
CleanExiHS_IGLL1
ExpressionAtlasiP15814 baseline and differential
GenevisibleiP15814 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
IPR003597 Ig_C1-set
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
SMARTiView protein in SMART
SM00407 IGc1, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS00290 IG_MHC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiIGLL1_HUMAN
AccessioniPrimary (citable) accession number: P15814
Secondary accession number(s): Q0P681
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: October 10, 2018
This is version 172 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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