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P35858

- ALS_HUMAN

UniProt

P35858 - ALS_HUMAN

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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: 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

  1. insulin-like growth factor binding Source: ProtInc

GO - Biological processi

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

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

ReactomeiREACT_15428. 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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:5468. IGFALS.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: UniProtKB
  2. extracellular space Source: ProtInc
  3. extracellular vesicular exosome Source: UniProtKB
  4. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

Orphaneti140941. Short stature due to primary acid-labile subunit deficiency.
PharmGKBiPA29702.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 27271 PublicationAdd
BLAST
Chaini28 – 605578Insulin-like growth factor-binding protein complex acid labile subunitPRO_0000020695Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi64 – 641N-linked (GlcNAc...)Sequence Analysis
Glycosylationi85 – 851N-linked (GlcNAc...)Sequence Analysis
Glycosylationi96 – 961N-linked (GlcNAc...)Sequence Analysis
Glycosylationi368 – 3681N-linked (GlcNAc...)2 Publications
Glycosylationi515 – 5151N-linked (GlcNAc...)1 Publication
Glycosylationi580 – 5801N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP35858.
PeptideAtlasiP35858.
PRIDEiP35858.

Expressioni

Tissue specificityi

Plasma.

Gene expression databases

BgeeiP35858.
CleanExiHS_IGFALS.
ExpressionAtlasiP35858. baseline and differential.
GenevestigatoriP35858.

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.

Protein-protein interaction databases

BioGridi109704. 3 interactions.
STRINGi9606.ENSP00000215539.

Structurei

3D structure databases

ProteinModelPortaliP35858.
SMRiP35858. Positions 38-595.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini32 – 7443LRRNTAdd
BLAST
Repeati75 – 9622LRR 1Add
BLAST
Repeati99 – 12022LRR 2Add
BLAST
Repeati123 – 14422LRR 3Add
BLAST
Repeati147 – 16822LRR 4Add
BLAST
Repeati171 – 19222LRR 5Add
BLAST
Repeati195 – 21622LRR 6Add
BLAST
Repeati219 – 24022LRR 7Add
BLAST
Repeati243 – 26422LRR 8Add
BLAST
Repeati267 – 28822LRR 9Add
BLAST
Repeati291 – 31222LRR 10Add
BLAST
Repeati315 – 33622LRR 11Add
BLAST
Repeati339 – 36022LRR 12Add
BLAST
Repeati363 – 38422LRR 13Add
BLAST
Repeati387 – 40822LRR 14Add
BLAST
Repeati411 – 43222LRR 15Add
BLAST
Repeati435 – 45622LRR 16Add
BLAST
Repeati459 – 48022LRR 17Add
BLAST
Repeati483 – 50422LRR 18Add
BLAST
Repeati507 – 52822LRR 19Add
BLAST
Domaini536 – 60570LRRCTAdd
BLAST

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

eggNOGiCOG4886.
GeneTreeiENSGT00760000118777.
HOGENOMiHOG000033909.
HOVERGENiHBG000327.
InParanoidiP35858.
KOiK17256.
OMAiQNLPEQV.
OrthoDBiEOG712TVW.
PhylomeDBiP35858.
TreeFamiTF351124.

Family and domain databases

InterProiIPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamiPF00560. LRR_1. 1 hit.
PF13504. LRR_7. 1 hit.
PF13855. LRR_8. 5 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 11 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti10 – 101L → P in BAG64250. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti97 – 971L → F.
Corresponds to variant rs35947557 [ dbSNP | Ensembl ].
VAR_050658
Natural varianti307 – 3071P → L.
Corresponds to variant rs34297640 [ dbSNP | Ensembl ].
VAR_050659
Natural varianti498 – 4981P → S.
Corresponds to variant rs9282730 [ dbSNP | Ensembl ].
VAR_022034
Natural varianti548 – 5481R → W.
Corresponds to variant rs9282731 [ dbSNP | Ensembl ].
VAR_022035

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei5 – 51K → KAGDLEPQFTPERRFRLCWY QAHSGRALLGPPPQASPPA in isoform 2. 1 PublicationVSP_044605

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [P35858-1]

Polymorphism databases

DMDMi543800.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10446.1. [P35858-1 ]
CCDS53982.1. [P35858-2 ]
PIRi A41915.
RefSeqi NP_001139478.1. NM_001146006.1. [P35858-2 ]
NP_004961.1. NM_004970.2. [P35858-1 ]
UniGenei Hs.839.

3D structure databases

ProteinModelPortali P35858.
SMRi P35858. Positions 38-595.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109704. 3 interactions.
STRINGi 9606.ENSP00000215539.

Polymorphism databases

DMDMi 543800.

Proteomic databases

PaxDbi P35858.
PeptideAtlasi P35858.
PRIDEi P35858.

Protocols and materials databases

DNASUi 3483.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000215539 ; ENSP00000215539 ; ENSG00000099769 . [P35858-1 ]
ENST00000415638 ; ENSP00000416683 ; ENSG00000099769 . [P35858-2 ]
GeneIDi 3483.
KEGGi hsa:3483.
UCSCi uc002cmy.3. human. [P35858-1 ]

Organism-specific databases

CTDi 3483.
GeneCardsi GC16M001840.
HGNCi HGNC:5468. IGFALS.
HPAi HPA040692.
HPA040948.
MIMi 601489. gene.
neXtProti NX_P35858.
Orphaneti 140941. Short stature due to primary acid-labile subunit deficiency.
PharmGKBi PA29702.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG4886.
GeneTreei ENSGT00760000118777.
HOGENOMi HOG000033909.
HOVERGENi HBG000327.
InParanoidi P35858.
KOi K17256.
OMAi QNLPEQV.
OrthoDBi EOG712TVW.
PhylomeDBi P35858.
TreeFami TF351124.

Enzyme and pathway databases

Reactomei REACT_15428. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs).

Miscellaneous databases

GeneWikii IGFALS.
GenomeRNAii 3483.
NextBioi 13696.
PROi P35858.
SOURCEi Search...

Gene expression databases

Bgeei P35858.
CleanExi HS_IGFALS.
ExpressionAtlasi P35858. baseline and differential.
Genevestigatori P35858.

Family and domain databases

InterProi IPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view ]
Pfami PF00560. LRR_1. 1 hit.
PF13504. LRR_7. 1 hit.
PF13855. LRR_8. 5 hits.
PF01462. LRRNT. 1 hit.
[Graphical view ]
SMARTi SM00369. LRR_TYP. 11 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view ]
PROSITEi PS51450. LRR. 18 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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.

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: October 29, 2014
This is version 141 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

External Data

Dasty 3