UniProtKB - Q9H4F8 (SMOC1_HUMAN)
Protein
SPARC-related modular calcium-binding protein 1
Gene
SMOC1
Organism
Homo sapiens (Human)
Status
Functioni
Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation.3 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 372 – 383 | 1Sequence analysisAdd BLAST | 12 | |
Calcium bindingi | 409 – 420 | 2Sequence analysisAdd BLAST | 12 |
GO - Molecular functioni
- calcium ion binding Source: InterPro
- extracellular matrix binding Source: GO_Central
- heparin binding Source: GO_Central
GO - Biological processi
- cell differentiation Source: UniProtKB-KW
- extracellular matrix organization Source: GO_Central
- eye development Source: UniProtKB
- limb development Source: UniProtKB
- regulation of osteoblast differentiation Source: UniProtKB
Keywordsi
Molecular function | Developmental protein |
Biological process | Differentiation |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9H4F8 |
SIGNORi | Q9H4F8 |
Names & Taxonomyi
Protein namesi | Recommended name: SPARC-related modular calcium-binding protein 1Alternative name(s): Secreted modular calcium-binding protein 1 Short name: SMOC-1 |
Gene namesi | Name:SMOC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20318, SMOC1 |
MIMi | 608488, gene |
neXtProti | NX_Q9H4F8 |
VEuPathDBi | HostDB:ENSG00000198732.10 |
Subcellular locationi
Extracellular region or secreted
- basement membrane 2 Publications
Note: In or around the basement membrane.
Extracellular region or secreted
- basement membrane Source: GO_Central
- extracellular space Source: GO_Central
Keywords - Cellular componenti
Basement membrane, Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Ophthalmoacromelic syndrome (OAS)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069326 | 278 | R → C in OAS. 1 PublicationCorresponds to variant dbSNP:rs776638586EnsemblClinVar. | 1 | |
Natural variantiVAR_069327 | 283 | T → N in OAS. 1 Publication | 1 | |
Natural variantiVAR_069328 | 286 | R → H in OAS. 1 PublicationCorresponds to variant dbSNP:rs1365818420EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, MicrophthalmiaOrganism-specific databases
DisGeNETi | 64093 |
GeneReviewsi | SMOC1 |
MalaCardsi | SMOC1 |
MIMi | 206920, phenotype |
OpenTargetsi | ENSG00000198732 |
Orphaneti | 1106, Microphthalmia with limb anomalies |
PharmGKBi | PA134942329 |
Miscellaneous databases
Pharosi | Q9H4F8, Tbio |
Genetic variation databases
BioMutai | SMOC1 |
DMDMi | 38258649 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 26 | Sequence analysisAdd BLAST | 26 | |
ChainiPRO_0000020316 | 27 – 434 | SPARC-related modular calcium-binding protein 1Add BLAST | 408 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 43 ↔ 74 | PROSITE-ProRule annotation | ||
Disulfide bondi | 47 ↔ 67 | PROSITE-ProRule annotation | ||
Disulfide bondi | 56 ↔ 87 | PROSITE-ProRule annotation | ||
Disulfide bondi | 95 ↔ 118 | By similarity | ||
Disulfide bondi | 129 ↔ 136 | By similarity | ||
Disulfide bondi | 138 ↔ 158 | By similarity | ||
Glycosylationi | 214 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 227 ↔ 251 | By similarity | ||
Disulfide bondi | 262 ↔ 269 | By similarity | ||
Disulfide bondi | 271 ↔ 292 | By similarity | ||
Glycosylationi | 374 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Glycosylated.1 Publication
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q9H4F8 |
jPOSTi | Q9H4F8 |
MassIVEi | Q9H4F8 |
MaxQBi | Q9H4F8 |
PaxDbi | Q9H4F8 |
PeptideAtlasi | Q9H4F8 |
PRIDEi | Q9H4F8 |
ProteomicsDBi | 80829 [Q9H4F8-1] 80830 [Q9H4F8-2] |
PTM databases
GlyGeni | Q9H4F8, 5 sites, 2 O-linked glycans (2 sites) |
iPTMneti | Q9H4F8 |
PhosphoSitePlusi | Q9H4F8 |
Expressioni
Tissue specificityi
Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen.1 Publication
Gene expression databases
Bgeei | ENSG00000198732, Expressed in subventricular zone (inner) (primate) and 181 other tissues |
ExpressionAtlasi | Q9H4F8, baseline and differential |
Genevisiblei | Q9H4F8, HS |
Organism-specific databases
HPAi | ENSG00000198732, Tissue enhanced (brain, liver) |
Interactioni
Binary interactionsi
Hide detailsQ9H4F8
With | #Exp. | IntAct |
---|---|---|
KRTAP10-8 [P60410] | 3 | EBI-2801103,EBI-10171774 |
NOTCH2NLA [Q7Z3S9] | 4 | EBI-2801103,EBI-945833 |
TCF4 [P15884] | 3 | EBI-2801103,EBI-533224 |
Hoxa1 [P09022] from Mus musculus. | 2 | EBI-2801103,EBI-3957603 |
Isoform 2 [Q9H4F8-2]
With | #Exp. | IntAct |
---|---|---|
CYSRT1 [A8MQ03] | 3 | EBI-12162539,EBI-3867333 |
KRTAP1-1 [Q07627] | 3 | EBI-12162539,EBI-11959885 |
NR4A3 [Q92570] | 3 | EBI-12162539,EBI-13644623 |
VGLL3 - isoform 2 [A8MV65-2] | 3 | EBI-12162539,EBI-11957216 |
Protein-protein interaction databases
BioGRIDi | 122055, 43 interactors |
IntActi | Q9H4F8, 31 interactors |
STRINGi | 9606.ENSP00000355110 |
Miscellaneous databases
RNActi | Q9H4F8, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 37 – 89 | Kazal-likePROSITE-ProRule annotationAdd BLAST | 53 | |
Domaini | 92 – 158 | Thyroglobulin type-1 1PROSITE-ProRule annotationAdd BLAST | 67 | |
Domaini | 224 – 292 | Thyroglobulin type-1 2PROSITE-ProRule annotationAdd BLAST | 69 | |
Domaini | 359 – 394 | EF-hand 1Add BLAST | 36 | |
Domaini | 396 – 431 | EF-hand 2Add BLAST | 36 |
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | KOG4578, Eukaryota |
GeneTreei | ENSGT00390000018436 |
HOGENOMi | CLU_023483_0_0_1 |
InParanoidi | Q9H4F8 |
OMAi | WKSEDER |
OrthoDBi | 1057719at2759 |
PhylomeDBi | Q9H4F8 |
TreeFami | TF320666 |
Family and domain databases
CDDi | cd16240, EFh_SPARC_SMOC1, 1 hit cd00191, TY, 2 hits |
Gene3Di | 4.10.800.10, 2 hits |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002350, Kazal_dom IPR036058, Kazal_dom_sf IPR037639, SMOC1_EC IPR019577, SPARC/Testican_Ca-bd-dom IPR000716, Thyroglobulin_1 IPR036857, Thyroglobulin_1_sf |
Pfami | View protein in Pfam PF07648, Kazal_2, 1 hit PF10591, SPARC_Ca_bdg, 1 hit PF00086, Thyroglobulin_1, 2 hits |
SMARTi | View protein in SMART SM00280, KAZAL, 1 hit SM00211, TY, 2 hits |
SUPFAMi | SSF100895, SSF100895, 1 hit SSF47473, SSF47473, 1 hit SSF57610, SSF57610, 2 hits |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 2 hits PS51465, KAZAL_2, 1 hit PS00484, THYROGLOBULIN_1_1, 2 hits PS51162, THYROGLOBULIN_1_2, 2 hits |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9H4F8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLPARCARLL TPHLLLVLVQ LSPARGHRTT GPRFLISDRD PQCNLHCSRT
60 70 80 90 100
QPKPICASDG RSYESMCEYQ RAKCRDPTLG VVHRGRCKDA GQSKCRLERA
110 120 130 140 150
QALEQAKKPQ EAVFVPECGE DGSFTQVQCH TYTGYCWCVT PDGKPISGSS
160 170 180 190 200
VQNKTPVCSG SVTDKPLSQG NSGRKDDGSK PTPTMETQPV FDGDEITAPT
210 220 230 240 250
LWIKHLVIKD SKLNNTNIRN SEKVYSCDQE RQSALEEAQQ NPREGIVIPE
260 270 280 290 300
CAPGGLYKPV QCHQSTGYCW CVLVDTGRPL PGTSTRYVMP SCESDARAKT
310 320 330 340 350
TEADDPFKDR ELPGCPEGKK MEFITSLLDA LTTDMVQAIN SAAPTGGGRF
360 370 380 390 400
SEPDPSHTLE ERVVHWYFSQ LDSNSSNDIN KREMKPFKRY VKKKAKPKKC
410 420 430
ARRFTDYCDL NKDKVISLPE LKGCLGVSKE GRLV
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034498 | 82 | V → M. Corresponds to variant dbSNP:rs10150925EnsemblClinVar. | 1 | |
Natural variantiVAR_069326 | 278 | R → C in OAS. 1 PublicationCorresponds to variant dbSNP:rs776638586EnsemblClinVar. | 1 | |
Natural variantiVAR_069327 | 283 | T → N in OAS. 1 Publication | 1 | |
Natural variantiVAR_069328 | 286 | R → H in OAS. 1 PublicationCorresponds to variant dbSNP:rs1365818420EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008720 | 430 | E → EV in isoform 2. 2 Publications | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ249900 mRNA Translation: CAC10352.1 AK289988 mRNA Translation: BAF82677.1 AK313063 mRNA Translation: BAG35892.1 AL135747 Genomic DNA No translation available. AL157789 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW81013.1 CH471061 Genomic DNA Translation: EAW81014.1 BC008608 mRNA Translation: AAH08608.1 BC011548 mRNA Translation: AAH11548.1 |
CCDSi | CCDS32110.1 [Q9H4F8-2] CCDS9798.1 [Q9H4F8-1] |
RefSeqi | NP_001030024.1, NM_001034852.2 [Q9H4F8-2] NP_071420.1, NM_022137.5 [Q9H4F8-1] |
Genome annotation databases
Ensembli | ENST00000361956; ENSP00000355110; ENSG00000198732 [Q9H4F8-2] ENST00000381280; ENSP00000370680; ENSG00000198732 [Q9H4F8-1] |
GeneIDi | 64093 |
KEGGi | hsa:64093 |
UCSCi | uc001xls.3, human [Q9H4F8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ249900 mRNA Translation: CAC10352.1 AK289988 mRNA Translation: BAF82677.1 AK313063 mRNA Translation: BAG35892.1 AL135747 Genomic DNA No translation available. AL157789 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW81013.1 CH471061 Genomic DNA Translation: EAW81014.1 BC008608 mRNA Translation: AAH08608.1 BC011548 mRNA Translation: AAH11548.1 |
CCDSi | CCDS32110.1 [Q9H4F8-2] CCDS9798.1 [Q9H4F8-1] |
RefSeqi | NP_001030024.1, NM_001034852.2 [Q9H4F8-2] NP_071420.1, NM_022137.5 [Q9H4F8-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 122055, 43 interactors |
IntActi | Q9H4F8, 31 interactors |
STRINGi | 9606.ENSP00000355110 |
PTM databases
GlyGeni | Q9H4F8, 5 sites, 2 O-linked glycans (2 sites) |
iPTMneti | Q9H4F8 |
PhosphoSitePlusi | Q9H4F8 |
Genetic variation databases
BioMutai | SMOC1 |
DMDMi | 38258649 |
Proteomic databases
EPDi | Q9H4F8 |
jPOSTi | Q9H4F8 |
MassIVEi | Q9H4F8 |
MaxQBi | Q9H4F8 |
PaxDbi | Q9H4F8 |
PeptideAtlasi | Q9H4F8 |
PRIDEi | Q9H4F8 |
ProteomicsDBi | 80829 [Q9H4F8-1] 80830 [Q9H4F8-2] |
Protocols and materials databases
Antibodypediai | 125, 121 antibodies |
DNASUi | 64093 |
Genome annotation databases
Ensembli | ENST00000361956; ENSP00000355110; ENSG00000198732 [Q9H4F8-2] ENST00000381280; ENSP00000370680; ENSG00000198732 [Q9H4F8-1] |
GeneIDi | 64093 |
KEGGi | hsa:64093 |
UCSCi | uc001xls.3, human [Q9H4F8-1] |
Organism-specific databases
CTDi | 64093 |
DisGeNETi | 64093 |
GeneCardsi | SMOC1 |
GeneReviewsi | SMOC1 |
HGNCi | HGNC:20318, SMOC1 |
HPAi | ENSG00000198732, Tissue enhanced (brain, liver) |
MalaCardsi | SMOC1 |
MIMi | 206920, phenotype 608488, gene |
neXtProti | NX_Q9H4F8 |
OpenTargetsi | ENSG00000198732 |
Orphaneti | 1106, Microphthalmia with limb anomalies |
PharmGKBi | PA134942329 |
VEuPathDBi | HostDB:ENSG00000198732.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4578, Eukaryota |
GeneTreei | ENSGT00390000018436 |
HOGENOMi | CLU_023483_0_0_1 |
InParanoidi | Q9H4F8 |
OMAi | WKSEDER |
OrthoDBi | 1057719at2759 |
PhylomeDBi | Q9H4F8 |
TreeFami | TF320666 |
Enzyme and pathway databases
PathwayCommonsi | Q9H4F8 |
SIGNORi | Q9H4F8 |
Miscellaneous databases
BioGRID-ORCSi | 64093, 2 hits in 871 CRISPR screens |
ChiTaRSi | SMOC1, human |
GenomeRNAii | 64093 |
Pharosi | Q9H4F8, Tbio |
PROi | PR:Q9H4F8 |
RNActi | Q9H4F8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198732, Expressed in subventricular zone (inner) (primate) and 181 other tissues |
ExpressionAtlasi | Q9H4F8, baseline and differential |
Genevisiblei | Q9H4F8, HS |
Family and domain databases
CDDi | cd16240, EFh_SPARC_SMOC1, 1 hit cd00191, TY, 2 hits |
Gene3Di | 4.10.800.10, 2 hits |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002350, Kazal_dom IPR036058, Kazal_dom_sf IPR037639, SMOC1_EC IPR019577, SPARC/Testican_Ca-bd-dom IPR000716, Thyroglobulin_1 IPR036857, Thyroglobulin_1_sf |
Pfami | View protein in Pfam PF07648, Kazal_2, 1 hit PF10591, SPARC_Ca_bdg, 1 hit PF00086, Thyroglobulin_1, 2 hits |
SMARTi | View protein in SMART SM00280, KAZAL, 1 hit SM00211, TY, 2 hits |
SUPFAMi | SSF100895, SSF100895, 1 hit SSF47473, SSF47473, 1 hit SSF57610, SSF57610, 2 hits |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 2 hits PS51465, KAZAL_2, 1 hit PS00484, THYROGLOBULIN_1_1, 2 hits PS51162, THYROGLOBULIN_1_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SMOC1_HUMAN | |
Accessioni | Q9H4F8Primary (citable) accession number: Q9H4F8 Secondary accession number(s): A8K1S3, B2R7P5, Q96F78 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2003 |
Last sequence update: | March 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 174 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot