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Protein

Kazal-type serine protease inhibitor domain-containing protein 1

Gene

KAZALD1

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

Functioni

Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes matrix assembly (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Osteogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Kazal-type serine protease inhibitor domain-containing protein 1
Gene namesi
Name:KAZALD1
ORF Names:FKSG28, FKSG40, UNQ2945/PRO21184
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107821.14
HGNCiHGNC:25460 KAZALD1
MIMi609208 gene
neXtProtiNX_Q96I82

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

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi81621
OpenTargetsiENSG00000107821
PharmGKBiPA134953983

Polymorphism and mutation databases

BioMutaiKAZALD1
DMDMi68565605

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 301 PublicationAdd BLAST30
ChainiPRO_000001507631 – 304Kazal-type serine protease inhibitor domain-containing protein 1Add BLAST274

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi135 ↔ 168PROSITE-ProRule annotation
Glycosylationi159N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi183N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi193 ↔ 253PROSITE-ProRule annotation
Glycosylationi277N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ96I82
PeptideAtlasiQ96I82
PRIDEiQ96I82
ProteomicsDBi76816
76817 [Q96I82-2]

Expressioni

Gene expression databases

BgeeiENSG00000107821
CleanExiHS_KAZALD1
GenevisibleiQ96I82 HS

Organism-specific databases

HPAiHPA011800

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

STRINGi9606.ENSP00000359219

Structurei

3D structure databases

ProteinModelPortaliQ96I82
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 124IGFBP N-terminalPROSITE-ProRule annotationAdd BLAST76
Domaini120 – 170Kazal-likePROSITE-ProRule annotationAdd BLAST51
Domaini172 – 269Ig-like C2-typeAdd BLAST98

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi53 – 82Cys-richAdd BLAST30

Keywords - Domaini

Immunoglobulin domain, Signal

Phylogenomic databases

eggNOGiENOG410IEZ4 Eukaryota
ENOG410Y7A9 LUCA
GeneTreeiENSGT00530000063555
HOGENOMiHOG000261684
HOVERGENiHBG031621
InParanoidiQ96I82
OMAiGRCGEQL
OrthoDBiEOG091G0QK5
PhylomeDBiQ96I82
TreeFamiTF331645

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR009030 Growth_fac_rcpt_cys_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR000867 IGFBP-like
IPR011390 IGFBP_rP_mac25
IPR002350 Kazal_dom
IPR036058 Kazal_dom_sf
PANTHERiPTHR14186 PTHR14186, 1 hit
PfamiView protein in Pfam
PF07679 I-set, 1 hit
PF00219 IGFBP, 1 hit
PF07648 Kazal_2, 1 hit
PIRSFiPIRSF018239 IGFBP_rP_mac25, 1 hit
SMARTiView protein in SMART
SM00409 IG, 1 hit
SM00408 IGc2, 1 hit
SM00280 KAZAL, 1 hit
SUPFAMiSSF100895 SSF100895, 1 hit
SSF48726 SSF48726, 1 hit
SSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS51323 IGFBP_N_2, 1 hit
PS51465 KAZAL_2, 1 hit

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: Q96I82-1) [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
MLPPPRPAAA LALPVLLLLL VVLTPPPTGA RPSPGPDYLR RGWMRLLAEG
60 70 80 90 100
EGCAPCRPEE CAAPRGCLAG RVRDACGCCW ECANLEGQLC DLDPSAHFYG
110 120 130 140 150
HCGEQLECRL DTGGDLSRGE VPEPLCACRS QSPLCGSDGH TYSQICRLQE
160 170 180 190 200
AARARPDANL TVAHPGPCES GPQIVSHPYD TWNVTGQDVI FGCEVFAYPM
210 220 230 240 250
ASIEWRKDGL DIQLPGDDPH ISVQFRGGPQ RFEVTGWLQI QAVRPSDEGT
260 270 280 290 300
YRCLGRNALG QVEAPASLTV LTPDQLNSTG IPQLRSLNLV PEEEAESEEN

DDYY
Length:304
Mass (Da):32,945
Last modified:December 1, 2001 - v1
Checksum:iD6259658B62E99CD
GO
Isoform 2 (identifier: Q96I82-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     182-252: WNVTGQDVIF...VRPSDEGTYR → QRGPRLQTLG...EGVPSGGSFW
     253-304: Missing.

Show »
Length:252
Mass (Da):26,525
Checksum:i6A9AB2C8515509B8
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02273976C → G1 PublicationCorresponds to variant dbSNP:rs11547671Ensembl.1
Natural variantiVAR_033628236G → D. Corresponds to variant dbSNP:rs11190812Ensembl.1
Natural variantiVAR_033629255G → A1 PublicationCorresponds to variant dbSNP:rs807037Ensembl.1
Natural variantiVAR_049977256R → H. Corresponds to variant dbSNP:rs36116329Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014303182 – 252WNVTG…EGTYR → QRGPRLQTLGTEDTLTTLVG AGGMARAVACGEAPGEHLAL QVLCLSGKRRHLWQVGSTGS SEGVPSGGSFW in isoform 2. 2 PublicationsAdd BLAST71
Alternative sequenceiVSP_014304253 – 304Missing in isoform 2. 2 PublicationsAdd BLAST52

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY014271 mRNA Translation: AAG50354.1
AF333487 mRNA Translation: AAG50291.1
AY359087 mRNA Translation: AAQ89445.1
AK172862 mRNA Translation: BAD18818.1
AL133215 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49782.1
CH471066 Genomic DNA Translation: EAW49783.1
CH471066 Genomic DNA Translation: EAW49784.1
BC007758 mRNA Translation: AAH07758.1
CCDSiCCDS7509.1 [Q96I82-1]
RefSeqiNP_001306232.1, NM_001319303.1
NP_112191.2, NM_030929.4 [Q96I82-1]
XP_016872203.1, XM_017016714.1 [Q96I82-1]
XP_016872204.1, XM_017016715.1 [Q96I82-1]
UniGeneiHs.534859
Hs.632079
Hs.733496

Genome annotation databases

EnsembliENST00000370200; ENSP00000359219; ENSG00000107821 [Q96I82-1]
GeneIDi81621
KEGGihsa:81621
UCSCiuc001ksr.4 human [Q96I82-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKAZD1_HUMAN
AccessioniPrimary (citable) accession number: Q96I82
Secondary accession number(s): D3DR74, Q6ZMB1, Q9BQ73
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: December 1, 2001
Last modified: June 20, 2018
This is version 138 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, Direct protein sequencing, Reference proteome

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