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Entry version 185 (12 Aug 2020)
Sequence version 1 (01 Jun 1994)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P35858

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Insulin-like growth factor-binding protein complex acid labile subunit
Short name:
ALS
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IGFALS
Synonyms:ALS
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000099769.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5468, IGFALS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601489, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P35858

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07247560C → S in ACLSD. 1 Publication1
Natural variantiVAR_07247673P → L in ACLSD. 1 PublicationCorresponds to variant dbSNP:rs766004600Ensembl.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 dbSNP:rs774634302Ensembl.1
Natural variantiVAR_072480276N → S in ACLSD. 1 PublicationCorresponds to variant dbSNP:rs551618643EnsemblClinVar.1
Natural variantiVAR_072481439L → LLEL in ACLSD. 1 Publication1
Natural variantiVAR_072482440D → N in ACLSD. 1 PublicationCorresponds to variant dbSNP:rs776840046Ensembl.1
Natural variantiVAR_072483540C → R in ACLSD. 1 PublicationCorresponds to variant dbSNP:rs121909247EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3483

MalaCards human disease database

More...
MalaCardsi
IGFALS
MIMi615961, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000099769

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
140941, Short stature due to primary acid-labile subunit deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29702

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P35858, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB09130, Copper
DB01277, Mecasermin
DB01593, Zinc
DB14487, Zinc acetate
DB14533, Zinc chloride
DB14548, Zinc sulfate, unspecified form

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IGFALS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
543800

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 271 PublicationAdd BLAST27
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002069528 – 605Insulin-like growth factor-binding protein complex acid labile subunitAdd BLAST578

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi64N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi85N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi96N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi368N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi515N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi580N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
non-CPTAC-2678

Encyclopedia of Proteome Dynamics

More...
EPDi
P35858

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P35858

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P35858

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P35858

PeptideAtlas

More...
PeptideAtlasi
P35858

PRoteomics IDEntifications database

More...
PRIDEi
P35858

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
20394
55158 [P35858-1]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1401, 17 N-Linked glycans (4 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
P35858, 9 sites, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P35858

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P35858

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Plasma.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000099769, Expressed in liver and 165 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P35858, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P35858, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000099769, Tissue enriched (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
109704, 5 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P35858

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000416683

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P35858, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini32 – 74LRRNTAdd BLAST43
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0619, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160824

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000288_18_6_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P35858

KEGG Orthology (KO)

More...
KOi
K17256

Identification of Orthologs from Complete Genome Data

More...
OMAi
HLDRGCL

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P35858

TreeFam database of animal gene trees

More...
TreeFami
TF351124

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.80.10.10, 4 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000483, Cys-rich_flank_reg_C
IPR001611, Leu-rich_rpt
IPR003591, Leu-rich_rpt_typical-subtyp
IPR032675, LRR_dom_sf
IPR000372, LRRNT

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13855, LRR_8, 5 hits
PF01462, LRRNT, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00369, LRR_TYP, 19 hits
SM00082, LRRCT, 1 hit
SM00013, LRRNT, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51450, LRR, 18 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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: P35858-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Show »
Length:643
Mass (Da):70,236
Checksum:iD9DFE527D566B271
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BSX8H3BSX8_HUMAN
Insulin-like growth factor-binding ...
IGFALS
131Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs766004600Ensembl.1
Natural variantiVAR_05065897L → F. Corresponds to variant dbSNP:rs35947557EnsemblClinVar.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 dbSNP:rs774634302Ensembl.1
Natural variantiVAR_072480276N → S in ACLSD. 1 PublicationCorresponds to variant dbSNP:rs551618643EnsemblClinVar.1
Natural variantiVAR_050659307P → L. Corresponds to variant dbSNP:rs34297640EnsemblClinVar.1
Natural variantiVAR_072481439L → LLEL in ACLSD. 1 Publication1
Natural variantiVAR_072482440D → N in ACLSD. 1 PublicationCorresponds to variant dbSNP:rs776840046Ensembl.1
Natural variantiVAR_022034498P → S. Corresponds to variant dbSNP:rs9282730EnsemblClinVar.1
Natural variantiVAR_072483540C → R in ACLSD. 1 PublicationCorresponds to variant dbSNP:rs121909247EnsemblClinVar.1
Natural variantiVAR_022035548R → W. Corresponds to variant dbSNP:rs9282731EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0446055K → KAGDLEPQFTPERRFRLCWY QAHSGRALLGPPPQASPPA in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS10446.1 [P35858-1]
CCDS53982.1 [P35858-2]

Protein sequence database of the Protein Information Resource

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PIRi
A41915

NCBI Reference Sequences

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RefSeqi
NP_001139478.1, NM_001146006.1 [P35858-2]
NP_004961.1, NM_004970.2 [P35858-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000215539; ENSP00000215539; ENSG00000099769 [P35858-1]
ENST00000415638; ENSP00000416683; ENSG00000099769 [P35858-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3483

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3483

UCSC genome browser

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UCSCi
uc002cmy.4, human [P35858-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi109704, 5 interactors
CORUMiP35858
STRINGi9606.ENSP00000416683

Chemistry databases

DrugBankiDB09130, Copper
DB01277, Mecasermin
DB01593, Zinc
DB14487, Zinc acetate
DB14533, Zinc chloride
DB14548, Zinc sulfate, unspecified form

PTM databases

GlyConnecti1401, 17 N-Linked glycans (4 sites)
GlyGeniP35858, 9 sites, 1 O-linked glycan (1 site)
iPTMnetiP35858
PhosphoSitePlusiP35858

Polymorphism and mutation databases

BioMutaiIGFALS
DMDMi543800

Proteomic databases

CPTACinon-CPTAC-2678
EPDiP35858
jPOSTiP35858
MassIVEiP35858
PaxDbiP35858
PeptideAtlasiP35858
PRIDEiP35858
ProteomicsDBi20394
55158 [P35858-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
42497, 246 antibodies

The DNASU plasmid repository

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DNASUi
3483

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3483
DisGeNETi3483
EuPathDBiHostDB:ENSG00000099769.5

GeneCards: human genes, protein and diseases

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GeneCardsi
IGFALS
HGNCiHGNC:5468, IGFALS
HPAiENSG00000099769, Tissue enriched (liver)
MalaCardsiIGFALS
MIMi601489, gene
615961, phenotype
neXtProtiNX_P35858
OpenTargetsiENSG00000099769
Orphaneti140941, Short stature due to primary acid-labile subunit deficiency
PharmGKBiPA29702

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0619, Eukaryota
GeneTreeiENSGT00940000160824
HOGENOMiCLU_000288_18_6_1
InParanoidiP35858
KOiK17256
OMAiHLDRGCL
PhylomeDBiP35858
TreeFamiTF351124

Enzyme and pathway databases

PathwayCommonsiP35858
ReactomeiR-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
3483, 4 hits in 872 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
IGFALS, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
IGFALS

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3483
PharosiP35858, Tbio

Protein Ontology

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PROi
PR:P35858
RNActiP35858, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000099769, Expressed in liver and 165 other tissues
ExpressionAtlasiP35858, baseline and differential
GenevisibleiP35858, HS

Family and domain databases

Gene3Di3.80.10.10, 4 hits
InterProiView protein in InterPro
IPR000483, Cys-rich_flank_reg_C
IPR001611, Leu-rich_rpt
IPR003591, Leu-rich_rpt_typical-subtyp
IPR032675, LRR_dom_sf
IPR000372, LRRNT
PfamiView protein in Pfam
PF13855, LRR_8, 5 hits
PF01462, LRRNT, 1 hit
SMARTiView protein in SMART
SM00369, LRR_TYP, 19 hits
SM00082, LRRCT, 1 hit
SM00013, LRRNT, 1 hit
PROSITEiView protein in PROSITE
PS51450, LRR, 18 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiALS_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P35858
Secondary accession number(s): B4DZY8, E9PGU3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: August 12, 2020
This is version 185 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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