P15814 (IGLL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	IGLL1
Synonyms:	IGL1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	213 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Critical for B-cell development. Ref.7
Subunit structure	Associates non-covalently with VPREB1. Ref.8
Subcellular location	Secreted Ref.7.
Tissue specificity	Expressed only in pre-B-cells and a special B-cell line (which is surface Ig negative). Ref.5
Involvement in disease	Agammaglobulinemia 2 (AGM2) [MIM:613500]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities	Contains 1 Ig-like C1-type (immunoglobulin-like) domain.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Immunoglobulin domain Signal
PTM	Disulfide bond
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	immune response Non-traceable author statement Ref.1. Source: UniProtKB
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell membrane Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P15814-1)

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.

Isoform 2 (identifier: P15814-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 37

37

Potential

Chain

38 – 213

176

Immunoglobulin lambda-like polypeptide 1

PRO_0000014777

Regions

Domain

114 – 208

95

Ig-like C1-type

Region

97 – 108

12

J region (By similarity to lambda light-chain)

Region

109 – 213

105

C region (By similarity to lambda light-chain)

Amino acid modifications

Disulfide bond

135 ↔ 194

Ref.8

Disulfide bond

212

Interchain (with a heavy chain) By similarity

Natural variations

Alternative sequence

70 – 213

144

FLLQR…PAECS → SAQGHPLGHSVPAVL in isoform 2.

VSP_042748

Natural variant

120

1

P → L.
Corresponds to variant rs1064425 [ dbSNP | Ensembl ].

VAR_049878

Natural variant

142

1

P → L in a patient with agammaglobulinemia. Ref.7
Corresponds to variant rs1064422 [ dbSNP | Ensembl ].

VAR_034869

Natural variant

189

1

R → H.
Corresponds to variant rs8138122 [ dbSNP | Ensembl ].

VAR_059392

Secondary structure

1

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213

Helix Strand Turn

Details...

Turn

61 – 65

5

Helix

66 – 70

5

Helix

72 – 75

4

Beta strand

102 – 108

7

Beta strand

115 – 119

5

Helix

123 – 126

4

Turn

127 – 129

3

Beta strand

131 – 143

13

Beta strand

146 – 151

6

Beta strand

158 – 162

5

Beta strand

173 – 181

9

Helix

183 – 188

6

Beta strand

192 – 198

7

Beta strand

201 – 207

7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 1, 1990. Version 1. Checksum: 9133A7742B943C79	FASTA	213	22,963
	10 20 30 40 50 60 MRPGTGQGGL EAPGEPGPNL RQRWPLLLLG LAVVTHGLLR PTAASQSRAL GPGAPGGSSR 70 80 90 100 110 120 SSLRSRWGRF LLQRGSWTGP RCWPRGFQSK HNSVTHVFGS GTQLTVLSQP KATPSVTLFP 130 140 150 160 170 180 PSSEELQANK ATLVCLMNDF YPGILTVTWK ADGTPITQGV EMTTPSKQSN NKYAASSYLS 190 200 210 LTPEQWRSRR SYSCQVMHEG STVEKTVAPA ECS
	Isoform 2 [UniParc]. Checksum: 60CEE4A92442032A	FASTA	84	8,574
	10 20 30 40 50 60 MRPGTGQGGL EAPGEPGPNL RQRWPLLLLG LAVVTHGLLR PTAASQSRAL GPGAPGGSSR 70 80 SSLRSRWGRS AQGHPLGHSV PAVL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Immunoglobulin lambda light-chain-related genes 14.1 and 16.1 are expressed in pre-B cells and may encode the human immunoglobulin omega light-chain protein." Hollis G.F., Evans R.J., Stafford-Hollis J.M., Korsmeyer S.J., McKearn J.P. Proc. Natl. Acad. Sci. U.S.A. 86:5552-5556(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Genomic structure of the human Ig lambda 1 gene suggests that it may be expressed as an Ig lambda 14.1-like protein or as a canonical B cell Ig lambda light chain: implications for Ig lambda gene evolution." Evans R.J., Hollis G.F. J. Exp. Med. 173:305-311(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Lymphoid tissue.
[3]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Testis.
[5]	"The immunoglobulin lambda-like gene cluster (14.1, 16.1 and F lambda 1) contains gene(s) selectively expressed in pre-B cells and is the human counterpart of the mouse lambda 5 gene." Schiff C., Bensmana M., Guglielmi P., Milili M., Lefranc M.-P., Fougereau M. Int. Immunol. 2:201-207(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-193, TISSUE SPECIFICITY.
[6]	"Identification of three new Ig lambda-like genes in man." Chang H., Dmitrovsky E., Hieter P.A., Mitchell K., Leder P., Turoczi L., Kirsch I.R., Hollis G.F. J. Exp. Med. 163:425-435(1986) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 95-213.
[7]	"Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia." Minegishi Y., Coustan-Smith E., Wang Y.H., Cooper M.D., Campana D., Conley M.E. J. Exp. Med. 187:71-77(1998) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT LEU-142.
[8]	"Structural insight into pre-B cell receptor function." Bankovich A.J., Raunser S., Juo Z.S., Walz T., Davis M.M., Garcia K.C. Science 316:291-294(2007) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 93-209 IN COMPLEX WITH VPREB1, SUBUNIT, DISULFIDE BOND.
+	Additional computationally mapped references.

Web resources

IGLL1base

IGLL1 mutation db

Wikipedia

IGLL1

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00013438.
IPI00333335.

PIR

A33911.

RefSeq

NP_064455.1. NM_020070.3.
NP_690594.1. NM_152855.2.

UniGene

Hs.348935.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2H32	X-ray	2.70	B	93-213	[»]
2H3N	X-ray	2.30	B/D	94-209	[»]
2LKQ	NMR	-	A	59-82	[»]

ProteinModelPortal

P15814.

ModBase

Search...

Protein-protein interaction databases

IntAct

P15814. 2 interactions.

MINT

MINT-4657105.

STRING

9606.ENSP00000329312.

PTM databases

PhosphoSite

P15814.

Polymorphism databases

DMDM

123944.

Proteomic databases

PaxDb

P15814.

PeptideAtlas

P15814.

PRIDE

P15814.

Protocols and materials databases

DNASU

3543.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000249053; ENSP00000249053; ENSG00000128322.
ENST00000330377; ENSP00000329312; ENSG00000128322.

GeneID

3543.

KEGG

hsa:3543.

UCSC

uc002zxd.3. human.

Organism-specific databases

CTD

3543.

GeneCards

GC22M023915.

HGNC

HGNC:5870. IGLL1.

MIM

146770. gene.
613500. phenotype.

neXtProt

NX_P15814.

Orphanet

33110. Autosomal agammaglobulinemia.

PharmGKB

PA29756.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG46716.

HOGENOM

HOG000113013.

HOVERGEN

HBG039526.

InParanoid

P15814.

KO

K06554.

OMA

WGRFLLQ.

PhylomeDB

P15814.

Gene expression databases

ArrayExpress

P15814.

Bgee

P15814.

CleanEx

HS_IGLL1.

Genevestigator

P15814.

GermOnline

ENSG00000128322. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.10. 1 hit.

InterPro

IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003006. Ig/MHC_CS.
IPR003597. Ig_C1-set.
[Graphical view]

Pfam

PF07654. C1-set. 1 hit.
[Graphical view]

SMART

SM00407. IGc1. 1 hit.
[Graphical view]

PROSITE

PS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

P15814.

GenomeRNAi

3543.

NextBio

13836.

SOURCE

Search...

Entry information

Entry name

IGLL1_HUMAN

Accession

Primary (citable) accession number: P15814
Secondary accession number(s): Q0P681

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	April 1, 1990
Last modified:	May 1, 2013
This is version 128 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.