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Protein

SPARC-related modular calcium-binding protein 1

Gene

SMOC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi372 – 3831Sequence analysisAdd BLAST12
Calcium bindingi409 – 4202Sequence analysisAdd BLAST12

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • eye development Source: UniProtKB
  • limb development Source: UniProtKB
  • regulation of osteoblast differentiation Source: UniProtKB
  • signal transduction Source: InterPro

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation
LigandCalcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
SPARC-related modular calcium-binding protein 1
Alternative name(s):
Secreted modular calcium-binding protein 1
Short name:
SMOC-1
Gene namesi
Name:SMOC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000198732.10
HGNCiHGNC:20318 SMOC1
MIMi608488 gene
neXtProtiNX_Q9H4F8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Ophthalmoacromelic syndrome (OAS)4 Publications
The disease is caused by mutations 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.
See also OMIM:206920
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069326278R → C in OAS. 1 PublicationCorresponds to variant dbSNP:rs776638586Ensembl.1
Natural variantiVAR_069327283T → N in OAS. 1 Publication1
Natural variantiVAR_069328286R → H in OAS. 1 Publication1

Keywords - Diseasei

Disease mutation, Microphthalmia

Organism-specific databases

DisGeNETi64093
MalaCardsiSMOC1
MIMi206920 phenotype
OpenTargetsiENSG00000198732
Orphaneti1106 Microphthalmia with limb anomalies
PharmGKBiPA134942329

Polymorphism and mutation databases

BioMutaiSMOC1
DMDMi38258649

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000002031627 – 434SPARC-related modular calcium-binding protein 1Add BLAST408

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi95 ↔ 118By similarity
Disulfide bondi129 ↔ 136By similarity
Disulfide bondi138 ↔ 158By similarity
Glycosylationi214N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi227 ↔ 251By similarity
Disulfide bondi262 ↔ 269By similarity
Disulfide bondi271 ↔ 292By similarity
Glycosylationi374N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

Glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ9H4F8
PaxDbiQ9H4F8
PeptideAtlasiQ9H4F8
PRIDEiQ9H4F8

PTM databases

iPTMnetiQ9H4F8
PhosphoSitePlusiQ9H4F8

Expressioni

Tissue specificityi

Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen.1 Publication

Gene expression databases

BgeeiENSG00000198732
CleanExiHS_SMOC1
ExpressionAtlasiQ9H4F8 baseline and differential
GenevisibleiQ9H4F8 HS

Organism-specific databases

HPAiCAB034427
HPA004153

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi122055, 30 interactors
IntActiQ9H4F8, 8 interactors
STRINGi9606.ENSP00000355110

Structurei

3D structure databases

ProteinModelPortaliQ9H4F8
SMRiQ9H4F8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini37 – 89Kazal-likePROSITE-ProRule annotationAdd BLAST53
Domaini92 – 158Thyroglobulin type-1 1PROSITE-ProRule annotationAdd BLAST67
Domaini224 – 292Thyroglobulin type-1 2PROSITE-ProRule annotationAdd BLAST69
Domaini359 – 394EF-hand 1Add BLAST36
Domaini396 – 431EF-hand 2Add BLAST36

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG4578 Eukaryota
ENOG410YP7C LUCA
GeneTreeiENSGT00390000018436
HOGENOMiHOG000234328
HOVERGENiHBG058558
InParanoidiQ9H4F8
OMAiRGHRTTG
OrthoDBiEOG091G083O
PhylomeDBiQ9H4F8
TreeFamiTF320666

Family and domain databases

CDDicd16240 EFh_SPARC_SMOC1, 1 hit
cd00191 TY, 2 hits
Gene3Di4.10.800.10, 2 hits
InterProiView 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
PfamiView protein in Pfam
PF07648 Kazal_2, 1 hit
PF10591 SPARC_Ca_bdg, 1 hit
PF00086 Thyroglobulin_1, 2 hits
SMARTiView protein in SMART
SM00280 KAZAL, 1 hit
SM00211 TY, 2 hits
SUPFAMiSSF100895 SSF100895, 1 hit
SSF47473 SSF47473, 1 hit
SSF57610 SSF57610, 2 hits
PROSITEiView 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

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. AlignAdd to basket

Isoform 1 (identifier: Q9H4F8-1) [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
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
Length:434
Mass (Da):48,163
Last modified:March 1, 2001 - v1
Checksum:i2CB639212BA42478
GO
Isoform 2 (identifier: Q9H4F8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     430-430: E → EV

Note: No experimental confirmation available.
Show »
Length:435
Mass (Da):48,262
Checksum:i3E1945054B9BA424
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03449882V → M. Corresponds to variant dbSNP:rs10150925Ensembl.1
Natural variantiVAR_069326278R → C in OAS. 1 PublicationCorresponds to variant dbSNP:rs776638586Ensembl.1
Natural variantiVAR_069327283T → N in OAS. 1 Publication1
Natural variantiVAR_069328286R → H in OAS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008720430E → EV in isoform 2. 2 Publications1

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
CCDSiCCDS32110.1 [Q9H4F8-2]
CCDS9798.1 [Q9H4F8-1]
RefSeqiNP_001030024.1, NM_001034852.2 [Q9H4F8-2]
NP_071420.1, NM_022137.5 [Q9H4F8-1]
UniGeneiHs.497349

Genome annotation databases

EnsembliENST00000361956; ENSP00000355110; ENSG00000198732 [Q9H4F8-2]
ENST00000381280; ENSP00000370680; ENSG00000198732 [Q9H4F8-1]
GeneIDi64093
KEGGihsa:64093
UCSCiuc001xls.3 human [Q9H4F8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSMOC1_HUMAN
AccessioniPrimary (citable) accession number: Q9H4F8
Secondary accession number(s): A8K1S3, B2R7P5, Q96F78
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: March 1, 2001
Last modified: March 28, 2018
This is version 154 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health