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Protein

Isthmin-1

Gene

ISM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Acts as an angiogenesis inhibitor.By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
Isthmin-1
Gene namesi
Name:ISM1
Synonyms:C20orf82, ISM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16213. ISM1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164721080.

Polymorphism and mutation databases

BioMutaiISM1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2929Sequence analysisAdd
BLAST
Chaini30 – 464435Isthmin-1PRO_0000348256Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi39 – 391N-linked (GlcNAc...)Sequence analysis
Disulfide bondi229 ↔ 256PROSITE-ProRule annotation
Disulfide bondi233 ↔ 261PROSITE-ProRule annotation
Disulfide bondi244 ↔ 248PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiB1AKI9.
PeptideAtlasiB1AKI9.
PRIDEiB1AKI9.

PTM databases

iPTMnetiB1AKI9.
PhosphoSiteiB1AKI9.

Expressioni

Gene expression databases

BgeeiB1AKI9.
GenevisibleiB1AKI9. HS.

Organism-specific databases

HPAiHPA050410.

Interactioni

Subunit structurei

Interacts with integrin ITGAV/ITGB5.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000262487.

Structurei

3D structure databases

ProteinModelPortaliB1AKI9.
SMRiB1AKI9. Positions 217-263.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini218 – 26245TSP type-1PROSITE-ProRule annotationAdd
BLAST
Domaini289 – 452164AMOPPROSITE-ProRule annotationAdd
BLAST

Domaini

The C-terminal AMOP domain plays an important role in the anti-angiogenic function of ISM1.By similarity

Sequence similaritiesi

Belongs to the isthmin family.Curated
Contains 1 AMOP domain.PROSITE-ProRule annotation
Contains 1 TSP type-1 domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IE9A. Eukaryota.
ENOG410XT8R. LUCA.
GeneTreeiENSGT00390000018792.
HOGENOMiHOG000113110.
HOVERGENiHBG108010.
InParanoidiB1AKI9.
OMAiMHKVIND.
OrthoDBiEOG776SPR.
PhylomeDBiB1AKI9.
TreeFamiTF331333.

Family and domain databases

InterProiIPR005533. AMOP_dom.
IPR000884. TSP1_rpt.
[Graphical view]
PfamiPF03782. AMOP. 1 hit.
PF00090. TSP_1. 1 hit.
[Graphical view]
SMARTiSM00723. AMOP. 1 hit.
SM00209. TSP1. 1 hit.
[Graphical view]
SUPFAMiSSF82895. SSF82895. 1 hit.
PROSITEiPS50856. AMOP. 1 hit.
PS50092. TSP1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

B1AKI9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVRLAAELLL LLGLLLLTLH ITVLRGSGAA DGPDAAAGNA SQAQLQNNLN
60 70 80 90 100
VGSDTTSETS FSLSKEAPRE HLDHQAAHQP FPRPRFRQET GHPSLQRDFP
110 120 130 140 150
RSFLLDLPNF PDLSKADING QNPNIQVTIE VVDGPDSEAD KDQHPENKPS
160 170 180 190 200
WSVPSPDWRA WWQRSLSLAR ANSGDQDYKY DSTSDDSNFL NPPRGWDHTA
210 220 230 240 250
PGHRTFETKD QPEYDSTDGE GDWSLWSVCS VTCGNGNQKR TRSCGYACTA
260 270 280 290 300
TESRTCDRPN CPGIEDTFRT AATEVSLLAG SEEFNATKLF EVDTDSCERW
310 320 330 340 350
MSCKSEFLKK YMHKVMNDLP SCPCSYPTEV AYSTADIFDR IKRKDFRWKD
360 370 380 390 400
ASGPKEKLEI YKPTARYCIR SMLSLESTTL AAQHCCYGDN MQLITRGKGA
410 420 430 440 450
GTPNLISTEF SAELHYKVDV LPWIICKGDW SRYNEARPPN NGQKCTESPS
460
DEDYIKQFQE AREY
Length:464
Mass (Da):52,107
Last modified:September 2, 2008 - v2
Checksum:i698AF5CCB599D945
GO

Sequence cautioni

The sequence CAC16127.3 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAC36074.2 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence EAX10318.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti193 – 1931P → R.
Corresponds to variant rs3747933 [ dbSNP | Ensembl ].
VAR_052664

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL133463, AL050320 Genomic DNA. Translation: CAC16127.3. Sequence problems.
AL050320, AL133463 Genomic DNA. Translation: CAC36074.2. Sequence problems.
CH471133 Genomic DNA. Translation: EAX10318.1. Sequence problems.
BC017997 mRNA. Translation: AAH17997.1.
CCDSiCCDS46579.1.
RefSeqiNP_543016.1. NM_080826.1.
UniGeneiHs.559353.

Genome annotation databases

EnsembliENST00000262487; ENSP00000262487; ENSG00000101230.
GeneIDi140862.
KEGGihsa:140862.
UCSCiuc010gce.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL133463, AL050320 Genomic DNA. Translation: CAC16127.3. Sequence problems.
AL050320, AL133463 Genomic DNA. Translation: CAC36074.2. Sequence problems.
CH471133 Genomic DNA. Translation: EAX10318.1. Sequence problems.
BC017997 mRNA. Translation: AAH17997.1.
CCDSiCCDS46579.1.
RefSeqiNP_543016.1. NM_080826.1.
UniGeneiHs.559353.

3D structure databases

ProteinModelPortaliB1AKI9.
SMRiB1AKI9. Positions 217-263.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000262487.

PTM databases

iPTMnetiB1AKI9.
PhosphoSiteiB1AKI9.

Polymorphism and mutation databases

BioMutaiISM1.

Proteomic databases

PaxDbiB1AKI9.
PeptideAtlasiB1AKI9.
PRIDEiB1AKI9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262487; ENSP00000262487; ENSG00000101230.
GeneIDi140862.
KEGGihsa:140862.
UCSCiuc010gce.2. human.

Organism-specific databases

CTDi140862.
GeneCardsiISM1.
H-InvDBHIX0015647.
HGNCiHGNC:16213. ISM1.
HPAiHPA050410.
MIMi615793. gene.
neXtProtiNX_B1AKI9.
PharmGKBiPA164721080.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE9A. Eukaryota.
ENOG410XT8R. LUCA.
GeneTreeiENSGT00390000018792.
HOGENOMiHOG000113110.
HOVERGENiHBG108010.
InParanoidiB1AKI9.
OMAiMHKVIND.
OrthoDBiEOG776SPR.
PhylomeDBiB1AKI9.
TreeFamiTF331333.

Miscellaneous databases

ChiTaRSiISM1. human.
GenomeRNAii140862.
PROiB1AKI9.
SOURCEiSearch...

Gene expression databases

BgeeiB1AKI9.
GenevisibleiB1AKI9. HS.

Family and domain databases

InterProiIPR005533. AMOP_dom.
IPR000884. TSP1_rpt.
[Graphical view]
PfamiPF03782. AMOP. 1 hit.
PF00090. TSP_1. 1 hit.
[Graphical view]
SMARTiSM00723. AMOP. 1 hit.
SM00209. TSP1. 1 hit.
[Graphical view]
SUPFAMiSSF82895. SSF82895. 1 hit.
PROSITEiPS50856. AMOP. 1 hit.
PS50092. TSP1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 314-464.
    Tissue: Skin.
  4. "Isthmin is a novel secreted protein expressed as part of the Fgf-8 synexpression group in the Xenopus midbrain-hindbrain organizer."
    Pera E.M., Kim J.I., Martinez S.L., Brechner M., Li S.-Y., Wessely O., De Robertis E.M.
    Mech. Dev. 116:169-172(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.

Entry informationi

Entry nameiISM1_HUMAN
AccessioniPrimary (citable) accession number: B1AKI9
Secondary accession number(s): Q8WVH9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: July 6, 2016
This is version 64 of the entry and version 2 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, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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.