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P35858

- ALS_HUMAN

UniProt

P35858 - ALS_HUMAN

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
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 1 (01 Jun 1994)
      Previous versions | rss
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    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

    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: UniProt
    4. nucleus Source: HPA

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    MIMi601489. gene+phenotype.
    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

    ArrayExpressiP35858.
    BgeeiP35858.
    CleanExiHS_IGFALS.
    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.
    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

    MALRKGGLAL ALLLLSWVAL GPRSLEGADP GTPGEAEGPA CPAACVCSYD    50
    DDADELSVFC SSRNLTRLPD GVPGGTQALW LDGNNLSSVP PAAFQNLSSL 100
    GFLNLQGGQL GSLEPQALLG LENLCHLHLE RNQLRSLALG TFAHTPALAS 150
    LGLSNNRLSR LEDGLFEGLG SLWDLNLGWN SLAVLPDAAF RGLGSLRELV 200
    LAGNRLAYLQ PALFSGLAEL RELDLSRNAL RAIKANVFVQ LPRLQKLYLD 250
    RNLIAAVAPG AFLGLKALRW LDLSHNRVAG LLEDTFPGLL GLRVLRLSHN 300
    AIASLRPRTF KDLHFLEELQ LGHNRIRQLA ERSFEGLGQL EVLTLDHNQL 350
    QEVKAGAFLG LTNVAVMNLS GNCLRNLPEQ VFRGLGKLHS LHLEGSCLGR 400
    IRPHTFTGLS GLRRLFLKDN GLVGIEEQSL WGLAELLELD LTSNQLTHLP 450
    HRLFQGLGKL EYLLLSRNRL AELPADALGP LQRAFWLDVS HNRLEALPNS 500
    LLAPLGRLRY LSLRNNSLRT FTPQPPGLER LWLEGNPWDC GCPLKALRDF 550
    ALQNPSAVPR FVQAICEGDD CQPPAYTYNN ITCASPPEVV GLDLRDLSEA 600
    HFAPC 605
    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+phenotype.
    neXtProti NX_P35858.
    Orphaneti 140941. Short stature due to primary acid-labile subunit deficiency.
    PharmGKBi PA29702.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4886.
    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

    ArrayExpressi P35858.
    Bgeei P35858.
    CleanExi HS_IGFALS.
    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

    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 1, 2014
    This is version 140 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