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

Insulin-like growth factor-binding protein complex acid labile subunit

Gene

IGFALS

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

Functioni

Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.

GO - Molecular functioni

  • insulin-like growth factor binding Source: ProtInc

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • cellular protein metabolic process Source: Reactome
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099769-MONOMER.
ReactomeiR-HSA-381426. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs).

Names & Taxonomyi

Protein namesi
Recommended name:
Insulin-like growth factor-binding protein complex acid labile subunit
Short name:
ALS
Gene namesi
Name:IGFALS
Synonyms:ALS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:5468. IGFALS.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular region Source: UniProtKB
  • extracellular space Source: ProtInc
  • insulin-like growth factor ternary complex Source: BHF-UCL
  • nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Acid-labile subunit deficiency (ACLSD)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings.
See also OMIM:615961
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07247560C → S in ACLSD. 1 Publication1
Natural variantiVAR_07247673P → L in ACLSD. 1 PublicationCorresponds to variant rs766004600dbSNPEnsembl.1
Natural variantiVAR_074071127L → P in ACLSD. 1 Publication1
Natural variantiVAR_072477134L → Q in ACLSD. 1 Publication1
Natural variantiVAR_072478197R → RSLR in ACLSD. 1 Publication1
Natural variantiVAR_072479244L → F in ACLSD. 1 PublicationCorresponds to variant rs774634302dbSNPEnsembl.1
Natural variantiVAR_072480276N → S in ACLSD. 1 PublicationCorresponds to variant rs551618643dbSNPEnsembl.1
Natural variantiVAR_072481439L → LLEL in ACLSD. 1 Publication1
Natural variantiVAR_072482440D → N in ACLSD. 1 PublicationCorresponds to variant rs776840046dbSNPEnsembl.1
Natural variantiVAR_072483540C → R in ACLSD. 1 PublicationCorresponds to variant rs121909247dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3483.
MalaCardsiIGFALS.
MIMi615961. phenotype.
OpenTargetsiENSG00000099769.
Orphaneti140941. Short stature due to primary acid-labile subunit deficiency.
PharmGKBiPA29702.

Polymorphism and mutation databases

BioMutaiIGFALS.
DMDMi543800.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 271 PublicationAdd BLAST27
ChainiPRO_000002069528 – 605Insulin-like growth factor-binding protein complex acid labile subunitAdd BLAST578

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi64N-linked (GlcNAc...)Sequence analysis1
Glycosylationi85N-linked (GlcNAc...)Sequence analysis1
Glycosylationi96N-linked (GlcNAc...)Sequence analysis1
Glycosylationi368N-linked (GlcNAc...)2 Publications1
Glycosylationi515N-linked (GlcNAc...)1 Publication1
Glycosylationi580N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP35858.
PeptideAtlasiP35858.
PRIDEiP35858.

PTM databases

iPTMnetiP35858.
PhosphoSitePlusiP35858.

Expressioni

Tissue specificityi

Plasma.

Gene expression databases

BgeeiENSG00000099769.
CleanExiHS_IGFALS.
ExpressionAtlasiP35858. baseline and differential.
GenevisibleiP35858. HS.

Organism-specific databases

HPAiHPA040692.
HPA040948.

Interactioni

Subunit structurei

Forms a ternary complex of about 140 to 150 kDa with IGF-I or IGF-II and IGFBP-3.

GO - Molecular functioni

  • insulin-like growth factor binding Source: ProtInc

Protein-protein interaction databases

BioGridi109704. 4 interactors.
STRINGi9606.ENSP00000416683.

Structurei

3D structure databases

ProteinModelPortaliP35858.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini32 – 74LRRNTAdd BLAST43
Repeati75 – 96LRR 1Add BLAST22
Repeati99 – 120LRR 2Add BLAST22
Repeati123 – 144LRR 3Add BLAST22
Repeati147 – 168LRR 4Add BLAST22
Repeati171 – 192LRR 5Add BLAST22
Repeati195 – 216LRR 6Add BLAST22
Repeati219 – 240LRR 7Add BLAST22
Repeati243 – 264LRR 8Add BLAST22
Repeati267 – 288LRR 9Add BLAST22
Repeati291 – 312LRR 10Add BLAST22
Repeati315 – 336LRR 11Add BLAST22
Repeati339 – 360LRR 12Add BLAST22
Repeati363 – 384LRR 13Add BLAST22
Repeati387 – 408LRR 14Add BLAST22
Repeati411 – 432LRR 15Add BLAST22
Repeati435 – 456LRR 16Add BLAST22
Repeati459 – 480LRR 17Add BLAST22
Repeati483 – 504LRR 18Add BLAST22
Repeati507 – 528LRR 19Add BLAST22
Domaini536 – 605LRRCTAdd BLAST70

Sequence similaritiesi

Contains 19 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated
Contains 1 LRRNT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00760000118777.
HOGENOMiHOG000033909.
HOVERGENiHBG000327.
InParanoidiP35858.
KOiK17256.
OMAiQCPAVCT.
OrthoDBiEOG091G04O7.
PhylomeDBiP35858.
TreeFamiTF351124.

Family and domain databases

Gene3Di3.80.10.10. 4 hits.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRRNT.
[Graphical view]
PfamiPF13855. LRR_8. 5 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 19 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 18 hits.
[Graphical view]

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

Isoform 1 (identifier: P35858-1) [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
MALRKGGLAL ALLLLSWVAL GPRSLEGADP GTPGEAEGPA CPAACVCSYD
60 70 80 90 100
DDADELSVFC SSRNLTRLPD GVPGGTQALW LDGNNLSSVP PAAFQNLSSL
110 120 130 140 150
GFLNLQGGQL GSLEPQALLG LENLCHLHLE RNQLRSLALG TFAHTPALAS
160 170 180 190 200
LGLSNNRLSR LEDGLFEGLG SLWDLNLGWN SLAVLPDAAF RGLGSLRELV
210 220 230 240 250
LAGNRLAYLQ PALFSGLAEL RELDLSRNAL RAIKANVFVQ LPRLQKLYLD
260 270 280 290 300
RNLIAAVAPG AFLGLKALRW LDLSHNRVAG LLEDTFPGLL GLRVLRLSHN
310 320 330 340 350
AIASLRPRTF KDLHFLEELQ LGHNRIRQLA ERSFEGLGQL EVLTLDHNQL
360 370 380 390 400
QEVKAGAFLG LTNVAVMNLS GNCLRNLPEQ VFRGLGKLHS LHLEGSCLGR
410 420 430 440 450
IRPHTFTGLS GLRRLFLKDN GLVGIEEQSL WGLAELLELD LTSNQLTHLP
460 470 480 490 500
HRLFQGLGKL EYLLLSRNRL AELPADALGP LQRAFWLDVS HNRLEALPNS
510 520 530 540 550
LLAPLGRLRY LSLRNNSLRT FTPQPPGLER LWLEGNPWDC GCPLKALRDF
560 570 580 590 600
ALQNPSAVPR FVQAICEGDD CQPPAYTYNN ITCASPPEVV GLDLRDLSEA

HFAPC
Length:605
Mass (Da):66,035
Last modified:June 1, 1994 - v1
Checksum:iF6562A23CBE918F6
GO
Isoform 2 (identifier: P35858-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     5-5: K → KAGDLEPQFTPERRFRLCWYQAHSGRALLGPPPQASPPA

Note: No experimental confirmation available.
Show »
Length:643
Mass (Da):70,236
Checksum:iD9DFE527D566B271
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10L → P in BAG64250 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07247560C → S in ACLSD. 1 Publication1
Natural variantiVAR_07247673P → L in ACLSD. 1 PublicationCorresponds to variant rs766004600dbSNPEnsembl.1
Natural variantiVAR_05065897L → F.Corresponds to variant rs35947557dbSNPEnsembl.1
Natural variantiVAR_074071127L → P in ACLSD. 1 Publication1
Natural variantiVAR_072477134L → Q in ACLSD. 1 Publication1
Natural variantiVAR_072478197R → RSLR in ACLSD. 1 Publication1
Natural variantiVAR_072479244L → F in ACLSD. 1 PublicationCorresponds to variant rs774634302dbSNPEnsembl.1
Natural variantiVAR_072480276N → S in ACLSD. 1 PublicationCorresponds to variant rs551618643dbSNPEnsembl.1
Natural variantiVAR_050659307P → L.Corresponds to variant rs34297640dbSNPEnsembl.1
Natural variantiVAR_072481439L → LLEL in ACLSD. 1 Publication1
Natural variantiVAR_072482440D → N in ACLSD. 1 PublicationCorresponds to variant rs776840046dbSNPEnsembl.1
Natural variantiVAR_022034498P → S.Corresponds to variant rs9282730dbSNPEnsembl.1
Natural variantiVAR_072483540C → R in ACLSD. 1 PublicationCorresponds to variant rs121909247dbSNPEnsembl.1
Natural variantiVAR_022035548R → W.Corresponds to variant rs9282731dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0446055K → KAGDLEPQFTPERRFRLCWY QAHSGRALLGPPPQASPPA in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M86826 mRNA. Translation: AAA36047.1.
AF192554 Genomic DNA. Translation: AAF06774.1.
AK303146 mRNA. Translation: BAG64250.1.
AC012180 Genomic DNA. No translation available.
AL031724 Genomic DNA. Translation: CAC36078.1.
CCDSiCCDS10446.1. [P35858-1]
CCDS53982.1. [P35858-2]
PIRiA41915.
RefSeqiNP_001139478.1. NM_001146006.1. [P35858-2]
NP_004961.1. NM_004970.2. [P35858-1]
UniGeneiHs.839.

Genome annotation databases

EnsembliENST00000215539; ENSP00000215539; ENSG00000099769. [P35858-1]
ENST00000415638; ENSP00000416683; ENSG00000099769. [P35858-2]
GeneIDi3483.
KEGGihsa:3483.
UCSCiuc002cmy.4. human. [P35858-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M86826 mRNA. Translation: AAA36047.1.
AF192554 Genomic DNA. Translation: AAF06774.1.
AK303146 mRNA. Translation: BAG64250.1.
AC012180 Genomic DNA. No translation available.
AL031724 Genomic DNA. Translation: CAC36078.1.
CCDSiCCDS10446.1. [P35858-1]
CCDS53982.1. [P35858-2]
PIRiA41915.
RefSeqiNP_001139478.1. NM_001146006.1. [P35858-2]
NP_004961.1. NM_004970.2. [P35858-1]
UniGeneiHs.839.

3D structure databases

ProteinModelPortaliP35858.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109704. 4 interactors.
STRINGi9606.ENSP00000416683.

PTM databases

iPTMnetiP35858.
PhosphoSitePlusiP35858.

Polymorphism and mutation databases

BioMutaiIGFALS.
DMDMi543800.

Proteomic databases

PaxDbiP35858.
PeptideAtlasiP35858.
PRIDEiP35858.

Protocols and materials databases

DNASUi3483.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000215539; ENSP00000215539; ENSG00000099769. [P35858-1]
ENST00000415638; ENSP00000416683; ENSG00000099769. [P35858-2]
GeneIDi3483.
KEGGihsa:3483.
UCSCiuc002cmy.4. human. [P35858-1]

Organism-specific databases

CTDi3483.
DisGeNETi3483.
GeneCardsiIGFALS.
HGNCiHGNC:5468. IGFALS.
HPAiHPA040692.
HPA040948.
MalaCardsiIGFALS.
MIMi601489. gene.
615961. phenotype.
neXtProtiNX_P35858.
OpenTargetsiENSG00000099769.
Orphaneti140941. Short stature due to primary acid-labile subunit deficiency.
PharmGKBiPA29702.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00760000118777.
HOGENOMiHOG000033909.
HOVERGENiHBG000327.
InParanoidiP35858.
KOiK17256.
OMAiQCPAVCT.
OrthoDBiEOG091G04O7.
PhylomeDBiP35858.
TreeFamiTF351124.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099769-MONOMER.
ReactomeiR-HSA-381426. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs).

Miscellaneous databases

GeneWikiiIGFALS.
GenomeRNAii3483.
PROiP35858.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000099769.
CleanExiHS_IGFALS.
ExpressionAtlasiP35858. baseline and differential.
GenevisibleiP35858. HS.

Family and domain databases

Gene3Di3.80.10.10. 4 hits.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRRNT.
[Graphical view]
PfamiPF13855. LRR_8. 5 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 19 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 18 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiALS_HUMAN
AccessioniPrimary (citable) accession number: P35858
Secondary accession number(s): B4DZY8, E9PGU3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: November 2, 2016
This is version 159 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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.