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P35858 (ALS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Insulin-like growth factor-binding protein complex acid labile subunit

Short name=ALS
Gene names
Name:IGFALS
Synonyms:ALS
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length605 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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

Subcellular location

Secretedextracellular space.

Tissue specificity

Plasma.

Sequence similarities

Contains 19 LRR (leucine-rich) repeats.

Contains 1 LRRCT domain.

Contains 1 LRRNT domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P35858-1)

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: P35858-2)

The sequence of this isoform differs from the canonical sequence as follows:
     5-5: K → KAGDLEPQFTPERRFRLCWYQAHSGRALLGPPPQASPPA
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2727 Ref.5
Chain28 – 605578Insulin-like growth factor-binding protein complex acid labile subunit
PRO_0000020695

Regions

Domain32 – 7443LRRNT
Repeat75 – 9622LRR 1
Repeat99 – 12022LRR 2
Repeat123 – 14422LRR 3
Repeat147 – 16822LRR 4
Repeat171 – 19222LRR 5
Repeat195 – 21622LRR 6
Repeat219 – 24022LRR 7
Repeat243 – 26422LRR 8
Repeat267 – 28822LRR 9
Repeat291 – 31222LRR 10
Repeat315 – 33622LRR 11
Repeat339 – 36022LRR 12
Repeat363 – 38422LRR 13
Repeat387 – 40822LRR 14
Repeat411 – 43222LRR 15
Repeat435 – 45622LRR 16
Repeat459 – 48022LRR 17
Repeat483 – 50422LRR 18
Repeat507 – 52822LRR 19
Domain536 – 60570LRRCT

Amino acid modifications

Glycosylation641N-linked (GlcNAc...) Potential
Glycosylation851N-linked (GlcNAc...) Potential
Glycosylation961N-linked (GlcNAc...) Potential
Glycosylation3681N-linked (GlcNAc...) Ref.6 Ref.7
Glycosylation5151N-linked (GlcNAc...) Ref.6
Glycosylation5801N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence51K → KAGDLEPQFTPERRFRLCWY QAHSGRALLGPPPQASPPA in isoform 2.
VSP_044605
Natural variant971L → F.
Corresponds to variant rs35947557 [ dbSNP | Ensembl ].
VAR_050658
Natural variant3071P → L.
Corresponds to variant rs34297640 [ dbSNP | Ensembl ].
VAR_050659
Natural variant4981P → S.
Corresponds to variant rs9282730 [ dbSNP | Ensembl ].
VAR_022034
Natural variant5481R → W.
Corresponds to variant rs9282731 [ dbSNP | Ensembl ].
VAR_022035

Experimental info

Sequence conflict101L → P in BAG64250. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 1994. Version 1.
Checksum: F6562A23CBE918F6

FASTA60566,035
        10         20         30         40         50         60 
MALRKGGLAL ALLLLSWVAL GPRSLEGADP GTPGEAEGPA CPAACVCSYD DDADELSVFC 

        70         80         90        100        110        120 
SSRNLTRLPD GVPGGTQALW LDGNNLSSVP PAAFQNLSSL GFLNLQGGQL GSLEPQALLG 

       130        140        150        160        170        180 
LENLCHLHLE RNQLRSLALG TFAHTPALAS LGLSNNRLSR LEDGLFEGLG SLWDLNLGWN 

       190        200        210        220        230        240 
SLAVLPDAAF RGLGSLRELV LAGNRLAYLQ PALFSGLAEL RELDLSRNAL RAIKANVFVQ 

       250        260        270        280        290        300 
LPRLQKLYLD RNLIAAVAPG AFLGLKALRW LDLSHNRVAG LLEDTFPGLL GLRVLRLSHN 

       310        320        330        340        350        360 
AIASLRPRTF KDLHFLEELQ LGHNRIRQLA ERSFEGLGQL EVLTLDHNQL QEVKAGAFLG 

       370        380        390        400        410        420 
LTNVAVMNLS GNCLRNLPEQ VFRGLGKLHS LHLEGSCLGR IRPHTFTGLS GLRRLFLKDN 

       430        440        450        460        470        480 
GLVGIEEQSL WGLAELLELD LTSNQLTHLP HRLFQGLGKL EYLLLSRNRL AELPADALGP 

       490        500        510        520        530        540 
LQRAFWLDVS HNRLEALPNS LLAPLGRLRY LSLRNNSLRT FTPQPPGLER LWLEGNPWDC 

       550        560        570        580        590        600 
GCPLKALRDF ALQNPSAVPR FVQAICEGDD CQPPAYTYNN ITCASPPEVV GLDLRDLSEA 


HFAPC 

« Hide

Isoform 2 [UniParc].

Checksum: D9DFE527D566B271
Show »

FASTA64370,236

References

« Hide 'large scale' references
[1]"Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex."
Leong S.R., Baxter R.C., Camerato T., Dai J., Wood W.I.
Mol. Endocrinol. 6:870-876(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE.
Tissue: Liver.
[2]"Conservation of a growth hormone-responsive promoter element in the human and mouse acid-labile subunit genes."
Suwanichkul A., Boisclair Y.R., Olney R.C., Durham S.K., Powell D.R.
Endocrinology 141:833-838(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Thymus.
[4]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"High molecular weight insulin-like growth factor binding protein complex. Purification and properties of the acid-labile subunit from human serum."
Baxter R.C., Martin J.L., Beniac V.A.
J. Biol. Chem. 264:11843-11848(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 28-35.
[6]"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-368 AND ASN-515.
Tissue: Plasma.
[7]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-368.
Tissue: Liver.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10446.1. [P35858-1]
CCDS53982.1. [P35858-2]
PIRA41915.
RefSeqNP_001139478.1. NM_001146006.1. [P35858-2]
NP_004961.1. NM_004970.2. [P35858-1]
UniGeneHs.839.

3D structure databases

ProteinModelPortalP35858.
SMRP35858. Positions 38-595.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109704. 3 interactions.
STRING9606.ENSP00000215539.

Polymorphism databases

DMDM543800.

Proteomic databases

PaxDbP35858.
PeptideAtlasP35858.
PRIDEP35858.

Protocols and materials databases

DNASU3483.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000215539; ENSP00000215539; ENSG00000099769. [P35858-1]
ENST00000415638; ENSP00000416683; ENSG00000099769. [P35858-2]
GeneID3483.
KEGGhsa:3483.
UCSCuc002cmy.3. human. [P35858-1]

Organism-specific databases

CTD3483.
GeneCardsGC16M001840.
HGNCHGNC:5468. IGFALS.
HPAHPA040692.
HPA040948.
MIM601489. gene+phenotype.
neXtProtNX_P35858.
Orphanet140941. Short stature due to primary acid-labile subunit deficiency.
PharmGKBPA29702.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4886.
HOGENOMHOG000033909.
HOVERGENHBG000327.
InParanoidP35858.
KOK17256.
OMAQNLPEQV.
OrthoDBEOG712TVW.
PhylomeDBP35858.
TreeFamTF351124.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressP35858.
BgeeP35858.
CleanExHS_IGFALS.
GenevestigatorP35858.

Family and domain databases

InterProIPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamPF00560. LRR_1. 1 hit.
PF13504. LRR_7. 1 hit.
PF13855. LRR_8. 5 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
SMARTSM00369. LRR_TYP. 11 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
PROSITEPS51450. LRR. 18 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiIGFALS.
GenomeRNAi3483.
NextBio13696.
PROP35858.
SOURCESearch...

Entry information

Entry nameALS_HUMAN
AccessionPrimary (citable) accession number: P35858
Secondary accession number(s): B4DZY8, E9PGU3
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: July 9, 2014
This is version 138 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM