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Protein

Kazal-type serine protease inhibitor domain-containing protein 1

Gene

KAZALD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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 - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, 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

HGNCiHGNC:25460. KAZALD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134953983.

Polymorphism and mutation databases

BioMutaiKAZALD1.
DMDMi68565605.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 30301 PublicationAdd
BLAST
Chaini31 – 304274Kazal-type serine protease inhibitor domain-containing protein 1PRO_0000015076Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi159 – 1591N-linked (GlcNAc...)Sequence analysis
Glycosylationi183 – 1831N-linked (GlcNAc...)Sequence analysis
Disulfide bondi193 ↔ 253PROSITE-ProRule annotation
Glycosylationi277 – 2771N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ96I82.
PeptideAtlasiQ96I82.
PRIDEiQ96I82.

Expressioni

Gene expression databases

BgeeiQ96I82.
CleanExiHS_KAZALD1.
GenevisibleiQ96I82. HS.

Organism-specific databases

HPAiHPA011800.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000359219.

Structurei

3D structure databases

ProteinModelPortaliQ96I82.
SMRiQ96I82. Positions 56-153, 169-284.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini49 – 12476IGFBP N-terminalPROSITE-ProRule annotationAdd
BLAST
Domaini120 – 17051Kazal-likePROSITE-ProRule annotationAdd
BLAST
Domaini172 – 26998Ig-like C2-typeAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi53 – 8230Cys-richAdd
BLAST

Sequence similaritiesi

Contains 1 IGFBP N-terminal domain.PROSITE-ProRule annotation
Contains 1 Kazal-like domain.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Signal

Phylogenomic databases

eggNOGiENOG410IEZ4. Eukaryota.
ENOG410Y7A9. LUCA.
GeneTreeiENSGT00530000063555.
HOGENOMiHOG000261684.
HOVERGENiHBG031621.
InParanoidiQ96I82.
OMAiGRCGEQL.
OrthoDBiEOG7BW0M2.
PhylomeDBiQ96I82.
TreeFamiTF331645.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR009030. Growth_fac_rcpt_.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR000867. IGFBP-like.
IPR011390. IGFBP_rP_mac25.
IPR002350. Kazal_dom.
[Graphical view]
PANTHERiPTHR14186. PTHR14186. 1 hit.
PfamiPF07679. I-set. 1 hit.
PF00219. IGFBP. 1 hit.
PF07648. Kazal_2. 1 hit.
[Graphical view]
PIRSFiPIRSF018239. IGFBP_rP_mac25. 1 hit.
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
SM00280. KAZAL. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS51323. IGFBP_N_2. 1 hit.
PS51465. KAZAL_2. 1 hit.
[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. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761C → G.1 Publication
Corresponds to variant rs11547671 [ dbSNP | Ensembl ].
VAR_022739
Natural varianti236 – 2361G → D.
Corresponds to variant rs11190812 [ dbSNP | Ensembl ].
VAR_033628
Natural varianti255 – 2551G → A.1 Publication
Corresponds to variant rs807037 [ dbSNP | Ensembl ].
VAR_033629
Natural varianti256 – 2561R → H.
Corresponds to variant rs36116329 [ dbSNP | Ensembl ].
VAR_049977

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei182 – 25271WNVTG…EGTYR → QRGPRLQTLGTEDTLTTLVG AGGMARAVACGEAPGEHLAL QVLCLSGKRRHLWQVGSTGS SEGVPSGGSFW in isoform 2. 2 PublicationsVSP_014303Add
BLAST
Alternative sequencei253 – 30452Missing in isoform 2. 2 PublicationsVSP_014304Add
BLAST

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. Translation: CAI10937.1.
AL133215 Genomic DNA. Translation: CAI10938.1.
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_005270250.1. XM_005270193.2. [Q96I82-1]
XP_011538525.1. XM_011540223.1. [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

Cross-referencesi

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. Translation: CAI10937.1.
AL133215 Genomic DNA. Translation: CAI10938.1.
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_005270250.1. XM_005270193.2. [Q96I82-1]
XP_011538525.1. XM_011540223.1. [Q96I82-1]
UniGeneiHs.534859.
Hs.632079.
Hs.733496.

3D structure databases

ProteinModelPortaliQ96I82.
SMRiQ96I82. Positions 56-153, 169-284.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000359219.

Polymorphism and mutation databases

BioMutaiKAZALD1.
DMDMi68565605.

Proteomic databases

PaxDbiQ96I82.
PeptideAtlasiQ96I82.
PRIDEiQ96I82.

Protocols and materials databases

DNASUi81621.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi81621.
GeneCardsiKAZALD1.
HGNCiHGNC:25460. KAZALD1.
HPAiHPA011800.
MIMi609208. gene.
neXtProtiNX_Q96I82.
PharmGKBiPA134953983.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEZ4. Eukaryota.
ENOG410Y7A9. LUCA.
GeneTreeiENSGT00530000063555.
HOGENOMiHOG000261684.
HOVERGENiHBG031621.
InParanoidiQ96I82.
OMAiGRCGEQL.
OrthoDBiEOG7BW0M2.
PhylomeDBiQ96I82.
TreeFamiTF331645.

Miscellaneous databases

ChiTaRSiKAZALD1. human.
GeneWikiiKAZALD1.
GenomeRNAii81621.
PROiQ96I82.
SOURCEiSearch...

Gene expression databases

BgeeiQ96I82.
CleanExiHS_KAZALD1.
GenevisibleiQ96I82. HS.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR009030. Growth_fac_rcpt_.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR000867. IGFBP-like.
IPR011390. IGFBP_rP_mac25.
IPR002350. Kazal_dom.
[Graphical view]
PANTHERiPTHR14186. PTHR14186. 1 hit.
PfamiPF07679. I-set. 1 hit.
PF00219. IGFBP. 1 hit.
PF07648. Kazal_2. 1 hit.
[Graphical view]
PIRSFiPIRSF018239. IGFBP_rP_mac25. 1 hit.
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
SM00280. KAZAL. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF57184. SSF57184. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS51323. IGFBP_N_2. 1 hit.
PS51465. KAZAL_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of FKSG28, a novel gene located on human chromosome 10."
    Wang Y.-G., Gong L.
    Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "Identification of FKSG40, a novel gene located on human chromosome 10."
    Wang Y.-G., Gong L.
    Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "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 1), VARIANT GLY-76.
    Tissue: Small intestine.
  5. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-255.
  7. "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] (ISOFORM 1).
    Tissue: Muscle.
  8. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
    Zhang Z., Henzel W.J.
    Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 31-45.

Entry informationi

Entry nameiKAZD1_HUMAN
AccessioniPrimary (citable) accession number: Q96I82
Secondary accession number(s): D3DR74, Q6ZMB1, Q9BQ73
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: December 1, 2001
Last modified: July 6, 2016
This is version 125 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 10
    Human chromosome 10: 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.