Q96I82 (KAZD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Kazal-type serine protease inhibitor domain-containing protein 1

Gene names

Name:	KAZALD1
ORF Names:	FKSG28, FKSG40, UNQ2945/PRO21184

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	304 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes matrix assembly By similarity.
Subcellular location	Secreted › extracellular space › extracellular matrix By similarity.
Sequence similarities	Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 IGFBP N-terminal domain. Contains 1 Kazal-like domain.

Ontologies

Keywords
Biological process	Differentiation Osteogenesis
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Immunoglobulin domain Signal
Molecular function	Developmental protein
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW ossification Inferred from electronic annotation. Source: UniProtKB-KW regulation of cell growth Inferred from electronic annotation. Source: InterPro
Molecular function	insulin-like growth factor binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96I82-1)

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.

Isoform 2 (identifier: Q96I82-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 30	30	Ref.8
	Chain	31 – 304	274	Kazal-type serine protease inhibitor domain-containing protein 1		PRO_0000015076
Regions
	Domain	49 – 124	76	IGFBP N-terminal
	Domain	120 – 170	51	Kazal-like
	Domain	172 – 269	98	Ig-like C2-type
	Compositional bias	53 – 82	30	Cys-rich
Amino acid modifications
	Glycosylation	159	1	N-linked (GlcNAc...) Potential
	Glycosylation	183	1	N-linked (GlcNAc...) Potential
	Glycosylation	277	1	N-linked (GlcNAc...) Potential
	Disulfide bond	193 ↔ 253		By similarity
Natural variations
	Alternative sequence	182 – 252	71	WNVTG…EGTYR → QRGPRLQTLGTEDTLTTLVG AGGMARAVACGEAPGEHLAL QVLCLSGKRRHLWQVGSTGS SEGVPSGGSFW in isoform 2.		VSP_014303
	Alternative sequence	253 – 304	52	Missing in isoform 2.		VSP_014304
	Natural variant	76	1	C → G. Ref.4 Corresponds to variant rs11547671 [ dbSNP | Ensembl ].		VAR_022739
	Natural variant	236	1	G → D. Corresponds to variant rs11190812 [ dbSNP | Ensembl ].		VAR_033628
	Natural variant	255	1	G → A. Ref.6 Corresponds to variant rs807037 [ dbSNP | Ensembl ].		VAR_033629
	Natural variant	256	1	R → H. Corresponds to variant rs36116329 [ dbSNP | Ensembl ].		VAR_049977

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: D6259658B62E99CD	FASTA	304	32,945
	10 20 30 40 50 60 MLPPPRPAAA LALPVLLLLL VVLTPPPTGA RPSPGPDYLR RGWMRLLAEG EGCAPCRPEE 70 80 90 100 110 120 CAAPRGCLAG RVRDACGCCW ECANLEGQLC DLDPSAHFYG HCGEQLECRL DTGGDLSRGE 130 140 150 160 170 180 VPEPLCACRS QSPLCGSDGH TYSQICRLQE AARARPDANL TVAHPGPCES GPQIVSHPYD 190 200 210 220 230 240 TWNVTGQDVI FGCEVFAYPM ASIEWRKDGL DIQLPGDDPH ISVQFRGGPQ RFEVTGWLQI 250 260 270 280 290 300 QAVRPSDEGT YRCLGRNALG QVEAPASLTV LTPDQLNSTG IPQLRSLNLV PEEEAESEEN DDYY
	Isoform 2 [UniParc]. Checksum: 6A9AB2C8515509B8	FASTA	252	26,525
	10 20 30 40 50 60 MLPPPRPAAA LALPVLLLLL VVLTPPPTGA RPSPGPDYLR RGWMRLLAEG EGCAPCRPEE 70 80 90 100 110 120 CAAPRGCLAG RVRDACGCCW ECANLEGQLC DLDPSAHFYG HCGEQLECRL DTGGDLSRGE 130 140 150 160 170 180 VPEPLCACRS QSPLCGSDGH TYSQICRLQE AARARPDANL TVAHPGPCES GPQIVSHPYD 190 200 210 220 230 240 TQRGPRLQTL GTEDTLTTLV GAGGMARAVA CGEAPGEHLA LQVLCLSGKR RHLWQVGSTG 250 SSEGVPSGGS FW

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] 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: 14702039] [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: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [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: 15340161] [Abstract] Cited for: PROTEIN SEQUENCE OF 31-45.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00101678. IPI00185540.
RefSeq	NP_112191.2. NM_030929.4.
UniGene	Hs.534859. Hs.632079.
3D structure databases
ProteinModelPortal	Q96I82.
SMR	Q96I82. Positions 81-271.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96I82.
Polymorphism databases
DMDM	68565605.
Proteomic databases
PRIDE	Q96I82.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370200; ENSP00000359219; ENSG00000107821.
GeneID	81621.
KEGG	hsa:81621.
UCSC	uc001ksr.1. human.
Organism-specific databases
CTD	81621.
GeneCards	GC10P102810.
H-InvDB	HIX0009136.
HGNC	HGNC:25460. KAZALD1.
HPA	HPA011800.
MIM	609208. gene.
neXtProt	NX_Q96I82.
PharmGKB	PA134953983.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11416.
GeneTree	ENSGT00530000063555.
HOGENOM	HBG717099.
HOVERGEN	HBG031621.
InParanoid	Q96I82.
OMA	RTYAQIC.
OrthoDB	EOG4K9BDF.
PhylomeDB	Q96I82.
Gene expression databases
ArrayExpress	Q96I82.
Bgee	Q96I82.
CleanEx	HS_KAZALD1.
Genevestigator	Q96I82.
GermOnline	ENSG00000107821. Homo sapiens.
Family and domain databases
InterPro	IPR007110. Ig-like. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003598. Ig_sub2. IPR000867. IGFBP-like. IPR011390. IGFBP_rP_mac25. IPR002350. Prot_inh_Kazal. [Graphical view]
Gene3D	G3DSA:2.60.40.10. Ig-like_fold. 1 hit.
PANTHER	PTHR14186. IGFBP_rP_mac25. 1 hit.
Pfam	PF07679. I-set. 1 hit. PF00219. IGFBP. 1 hit. PF00050. Kazal_1. 1 hit. [Graphical view]
PIRSF	PIRSF018239. IGFBP_rP_mac25. 1 hit.
SMART	SM00408. IGc2. 1 hit. SM00280. KAZAL. 1 hit. [Graphical view]
PROSITE	PS50835. IG_LIKE. 1 hit. PS51323. IGFBP_N_2. 1 hit. PS51465. KAZAL_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	71984.
SOURCE	Search...

Entry information

Entry name

KAZD1_HUMAN

Accession

Primary (citable) accession number: Q96I82
Secondary accession number(s): D3DR74, Q6ZMB1, Q9BQ73

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2005
Last sequence update:	December 1, 2001
Last modified:	January 25, 2012
This is version 85 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.