Reviewed, UniProtKB/Swiss-Prot Q12794 (HYAL1_HUMAN)

Names and origin

Protein names

Recommended name:
    Hyaluronidase-1
      Short name=Hyal-1
    EC=3.2.1.35
Alternative name(s):
    Hyaluronoglucosaminidase-1
      Short name=LUCA-1

Gene names

Name:	HYAL1
Synonyms:	LUCA1

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	435 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	May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.
Catalytic activity	Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.
Subcellular location	Secreted. Lysosome.
Tissue specificity	Highly expressed in the liver, kidney and heart. Weakly expressed in lung, placenta and skeletal muscle. No expression detected in adult brain. Isoform 1 is expressed only in bladder and prostate cancer cells, G2/G3 bladder tumor tissues and lymph node specimens showing tumor invasive tumors cells. Isoform 3, isoform 4, isoform 5 and isoform 6 are expressed in normal bladder and bladder tumor tissues.
Involvement in disease	Defects in HYAL1 are the cause of mucopolysaccharidosis type IX (MPS9) [MIM:601492]; also called hyaluronidase deficiency. The clinical features are periarticular soft tissue masses, mild short stature and acetabular erosions, an absence of neurological or visceral involvement and a high hyaluronan (HA) concentration in the serum.
Sequence similarities	Belongs to the glycosyl hydrolase 56 family. Contains 1 EGF-like domain.
Biophysicochemical properties	pH dependence: Optimum pH is about 3.8.

Ontologies

Keywords
Cellular component	Lysosome Secreted
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	EGF-like domain Signal
Molecular function	Glycosidase Hydrolase
PTM	Glycoprotein
Technical term	3D-structure Direct protein sequencing
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	extracellular space Ref.2 Traceable author statement. Source: ProtInc lysosome Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	hyalurononglucosaminidase activity Ref.2 Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q12794-1)

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: Q12794-2)

Also known as: HYAl1v1;

The sequence of this isoform differs from the canonical sequence as follows:
     301-330: Missing.

Notes: Enzymatically inactive.

Isoform 3 (identifier: Q12794-3)

Also known as: HYAl1v2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-182: Missing.

Notes: Enzymatically inactive.

Isoform 4 (identifier: Q12794-4)

Also known as: HYAl1v3;

The sequence of this isoform differs from the canonical sequence as follows:
     208-209: YN → SG
     210-435: Missing.

Notes: Enzymatically inactive.

Isoform 5 (identifier: Q12794-5)

Also known as: HYAl1v4;

The sequence of this isoform differs from the canonical sequence as follows:
     1-259: Missing.

Notes: Enzymatically inactive.

Isoform 6 (identifier: Q12794-6)

Also known as: HYAl1v5;

The sequence of this isoform differs from the canonical sequence as follows:
     1-339: Missing.

Notes: Enzymatically inactive.

Isoform 7 (identifier: Q12794-7)

The sequence of this isoform differs from the canonical sequence as follows:
     331-336: ESCQAI → VSLGLA
     337-435: Missing.

Notes: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 21

21

Potential

Chain

22 – 435

414

Hyaluronidase-1

PRO_0000042622

Regions

Domain

354 – 430

77

EGF-like

Sites

Active site

131

1

Proton donor Probable

Amino acid modifications

Glycosylation

99

1

N-linked (GlcNAc...)

Glycosylation

216

1

N-linked (GlcNAc...)

Glycosylation

350

1

N-linked (GlcNAc...)

Disulfide bond

43 ↔ 333

Disulfide bond

207 ↔ 221

Disulfide bond

358 ↔ 369

Disulfide bond

363 ↔ 418

Disulfide bond

420 ↔ 429

Natural variations

Alternative sequence

1 – 339

339

Missing in isoform 6.

VSP_015915

Alternative sequence

1 – 259

259

Missing in isoform 5.

VSP_015916

Alternative sequence

1 – 182

182

Missing in isoform 3.

VSP_015917

Alternative sequence

208 – 209

2

YN → SG in isoform 4.

VSP_015918

Alternative sequence

210 – 435

226

Missing in isoform 4.

VSP_015919

Alternative sequence

301 – 330

30

Missing in isoform 2.

VSP_015920

Alternative sequence

331 – 336

6

ESCQAI → VSLGLA in isoform 7.

VSP_015921

Alternative sequence

337 – 435

99

Missing in isoform 7.

VSP_015922

Natural variant

268

1

E → K in MPS9.

VAR_023643

Experimental info

Sequence conflict

3

1

A → G in CAG46731. Ref.6

Sequence conflict

191

1

R → G in AAD53277. Ref.1

Sequence conflict

300

1

L → Q in AAD24460. Ref.3

Secondary structure

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435

Helix Strand Turn

Details...

Beta strand

24 – 27

4

Beta strand

30 – 38

9

Helix

40 – 47

8

Beta strand

56 – 59

4

Beta strand

69 – 74

6

Beta strand

78 – 80

3

Helix

97 – 99

3

Helix

102 – 116

15

Beta strand

124 – 128

5

Helix

137 – 139

3

Helix

142 – 144

3

Helix

145 – 158

14

Beta strand

159 – 161

3

Helix

164 – 193

30

Beta strand

197 – 202

6

Helix

223 – 230

8

Helix

233 – 238

6

Beta strand

240 – 243

4

Helix

250 – 252

3

Helix

258 – 275

18

Helix

300 – 304

5

Helix

307 – 312

6

Beta strand

316 – 321

6

Helix

324 – 326

3

Beta strand

327 – 329

3

Helix

330 – 342

13

Helix

344 – 362

19

Beta strand

366 – 371

6

Turn

384 – 386

3

Beta strand

387 – 391

5

Helix

393 – 395

3

Beta strand

398 – 402

5

Helix

406 – 415

10

Beta strand

416 – 420

5

Turn

426 – 429

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 2. Checksum: 9C2B2D8DB361E0BB	FASTA	435	48,368
	10 20 30 40 50 60 MAAHLLPICA LFLTLLDMAQ GFRGPLLPNR PFTTVWNANT QWCLERHGVD VDVSVFDVVA 70 80 90 100 110 120 NPGQTFRGPD MTIFYSSQLG TYPYYTPTGE PVFGGLPQNA SLIAHLARTF QDILAAIPAP 130 140 150 160 170 180 DFSGLAVIDW EAWRPRWAFN WDTKDIYRQR SRALVQAQHP DWPAPQVEAV AQDQFQGAAR 190 200 210 220 230 240 AWMAGTLQLG RALRPRGLWG FYGFPDCYNY DFLSPNYTGQ CPSGIRAQND QLGWLWGQSR 250 260 270 280 290 300 ALYPSIYMPA VLEGTGKSQM YVQHRVAEAF RVAVAAGDPN LPVLPYVQIF YDTTNHFLPL 310 320 330 340 350 360 DELEHSLGES AAQGAAGVVL WVSWENTRTK ESCQAIKEYM DTTLGPFILN VTSGALLCSQ 370 380 390 400 410 420 ALCSGHGRCV RRTSHPKALL LLNPASFSIQ LTPGGGPLSL RGALSLEDQA QMAVEFKCRC 430 YPGWQAPWCE RKSMW
	Isoform 2 (HYAl1v1) [UniParc]. Checksum: C24DAD360D9CF032		405	45,145
	10 20 30 40 50 60 MAAHLLPICA LFLTLLDMAQ GFRGPLLPNR PFTTVWNANT QWCLERHGVD VDVSVFDVVA 70 80 90 100 110 120 NPGQTFRGPD MTIFYSSQLG TYPYYTPTGE PVFGGLPQNA SLIAHLARTF QDILAAIPAP 130 140 150 160 170 180 DFSGLAVIDW EAWRPRWAFN WDTKDIYRQR SRALVQAQHP DWPAPQVEAV AQDQFQGAAR 190 200 210 220 230 240 AWMAGTLQLG RALRPRGLWG FYGFPDCYNY DFLSPNYTGQ CPSGIRAQND QLGWLWGQSR 250 260 270 280 290 300 ALYPSIYMPA VLEGTGKSQM YVQHRVAEAF RVAVAAGDPN LPVLPYVQIF YDTTNHFLPL 310 320 330 340 350 360 ESCQAIKEYM DTTLGPFILN VTSGALLCSQ ALCSGHGRCV RRTSHPKALL LLNPASFSIQ 370 380 390 400 LTPGGGPLSL RGALSLEDQA QMAVEFKCRC YPGWQAPWCE RKSMW
	Isoform 3 (HYAl1v2) [UniParc]. Checksum: 441C0DB43301E03F		253	27,958
	10 20 30 40 50 60 MAGTLQLGRA LRPRGLWGFY GFPDCYNYDF LSPNYTGQCP SGIRAQNDQL GWLWGQSRAL 70 80 90 100 110 120 YPSIYMPAVL EGTGKSQMYV QHRVAEAFRV AVAAGDPNLP VLPYVQIFYD TTNHFLPLDE 130 140 150 160 170 180 LEHSLGESAA QGAAGVVLWV SWENTRTKES CQAIKEYMDT TLGPFILNVT SGALLCSQAL 190 200 210 220 230 240 CSGHGRCVRR TSHPKALLLL NPASFSIQLT PGGGPLSLRG ALSLEDQAQM AVEFKCRCYP 250 GWQAPWCERK SMW
	Isoform 4 (HYAl1v3) [UniParc]. Checksum: 5C1046F8199F3BFF		209	23,338
	10 20 30 40 50 60 MAAHLLPICA LFLTLLDMAQ GFRGPLLPNR PFTTVWNANT QWCLERHGVD VDVSVFDVVA 70 80 90 100 110 120 NPGQTFRGPD MTIFYSSQLG TYPYYTPTGE PVFGGLPQNA SLIAHLARTF QDILAAIPAP 130 140 150 160 170 180 DFSGLAVIDW EAWRPRWAFN WDTKDIYRQR SRALVQAQHP DWPAPQVEAV AQDQFQGAAR 190 200 AWMAGTLQLG RALRPRGLWG FYGFPDCSG
	Isoform 5 (HYAl1v4) [UniParc]. Checksum: 75F674283B175FDD		176	19,367
	10 20 30 40 50 60 MYVQHRVAEA FRVAVAAGDP NLPVLPYVQI FYDTTNHFLP LDELEHSLGE SAAQGAAGVV 70 80 90 100 110 120 LWVSWENTRT KESCQAIKEY MDTTLGPFIL NVTSGALLCS QALCSGHGRC VRRTSHPKAL 130 140 150 160 170 LLLNPASFSI QLTPGGGPLS LRGALSLEDQ AQMAVEFKCR CYPGWQAPWC ERKSMW
	Isoform 6 (HYAl1v5) [UniParc]. Checksum: 70AD570E4305A4E8		96	10,435
	10 20 30 40 50 60 MDTTLGPFIL NVTSGALLCS QALCSGHGRC VRRTSHPKAL LLLNPASFSI QLTPGGGPLS 70 80 90 LRGALSLEDQ AQMAVEFKCR CYPGWQAPWC ERKSMW
	Isoform 7 [UniParc]. Checksum: 7D19178001F20E51		336	37,439
	10 20 30 40 50 60 MAAHLLPICA LFLTLLDMAQ GFRGPLLPNR PFTTVWNANT QWCLERHGVD VDVSVFDVVA 70 80 90 100 110 120 NPGQTFRGPD MTIFYSSQLG TYPYYTPTGE PVFGGLPQNA SLIAHLARTF QDILAAIPAP 130 140 150 160 170 180 DFSGLAVIDW EAWRPRWAFN WDTKDIYRQR SRALVQAQHP DWPAPQVEAV AQDQFQGAAR 190 200 210 220 230 240 AWMAGTLQLG RALRPRGLWG FYGFPDCYNY DFLSPNYTGQ CPSGIRAQND QLGWLWGQSR 250 260 270 280 290 300 ALYPSIYMPA VLEGTGKSQM YVQHRVAEAF RVAVAAGDPN LPVLPYVQIF YDTTNHFLPL 310 320 330 DELEHSLGES AAQGAAGVVL WVSWENTRTK VSLGLA

References

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[1]

"Construction of a 600-kilobase cosmid clone contig and generation of a transcriptional map surrounding the lung cancer tumor suppressor gene (TSG) locus on human chromosome 3p21.3: progress toward the isolation of a lung cancer TSG." Wei M.H., Latif F., Bader S., Kashuba V., Chen J.Y., Duh F.-M., Sekido Y., Lee C.C., Geil L., Kuzmin I., Zabarovsky E., Klein G., Zbar B., Minna J.D., Lerman M.I. Cancer Res. 56:1487-1492(1996) [PubMed: 8603390] [Abstract]