ITIH1 (inter-alpha-trypsin inhibitor heavy chain 1)

Gene

• Entrez ID: 3697
• Gene name: Inter-alpha-trypsin inhibitor heavy chain 1
• Gene symbol: ITIH1
• Synonyms: H1P, IATIH, IGHEP1, ITI-HC1, ITIH, SHAP
• Chromosome: 3
• Chromosome location: 3p21.1
• Summary: This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain o

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018625	hsa-miR-335-5p	Microarray	18185580
MIRT1074356	hsa-miR-3202	CLIP-seq
MIRT1074357	hsa-miR-3910	CLIP-seq
MIRT1074358	hsa-miR-4533	CLIP-seq
MIRT1074359	hsa-miR-3173-3p	CLIP-seq
MIRT1921781	hsa-miR-1265	CLIP-seq
MIRT1921782	hsa-miR-4312	CLIP-seq
MIRT1921781	hsa-miR-1265	CLIP-seq
MIRT1921782	hsa-miR-4312	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005509	Function	Calcium ion binding	TAS	2446322
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0010951	Process	Negative regulation of endopeptidase activity	IEA
GO:0030212	Process	Hyaluronan metabolic process	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28675934
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 147270
• HGNC: 6166
• e!Ensembl: ENSG00000055957

Protein

• UniProt ID: P19827
• Protein name: Inter-alpha-trypsin inhibitor heavy chain H1 (ITI heavy chain H1) (ITI-HC1) (Inter-alpha-inhibitor heavy chain 1) (Inter-alpha-trypsin inhibitor complex component III) (Serum-derived hyaluronan-associated protein) (SHAP)
• Protein function: May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essentia
• PDB: 6FPY, 6FPZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08487	VIT	53 → 164	Vault protein inter-alpha-trypsin domain	Family
  PF00092	VWA	292 → 474	von Willebrand factor type A domain	Domain
  PF06668	ITI_HC_C	705 → 892	Inter-alpha-trypsin inhibitor heavy chain C-terminus	Family

• Sequence:

  MDGAMGPRGLLLCMYLVSLLILQAMPALGSATGRSKSSEKRQAVDTAVDGVFIRSLKVNC
  KVTSRFAHYVVTSQVVNTANEAREVAFDLEIPKTAFISDFAVTADGNAFIGDIKDKVTAW
  KQYRKAAISGENAGLVRASGRTMEQFTIHLTVNPQSKVTFQLTYEEVLKRNHMQYEIVIK
  VKPKQLVHHFEIDVDIFEPQGISKLDAQASFLPKELAAQTIKKSFSGKKGHVLFRPTVSQ
  QQSCPTCSTSLLNGHFKVTYDVSRDKICDLLVANNHFAHFFAPQNLTNMNKNVVFVIDIS
  GSMRGQKVKQTKEALLKILGDMQPGDYFDLVLFGTRVQSWKGSLVQASEANLQAAQDFVR
  GFSLDEATNLNGGLLRGIEILNQVQESLPELSNHASILIMLTDGDPTEGVTDRSQILKNV
  RNAIRGRFPLYNLGFGHNVDFNFLEVMSMENNGRAQRIYEDHDATQQLQGFYSQVAKPLL
  VDVDLQYPQDAVLALTQNHHKQYYEGSEIVVAGRIADNKQSSFKADVQAHGEGQEFSITC
  LVDEEEMKKLLRERGHMLENHVERLWAYLTIQELLAKRMKVDREERANLSSQALQMSLDY
  GFVTPLTSMSIRGMADQDGLKPTIDKPSEDSPPLEMLGPRRTFVLSALQPSPTHSSSNTQ
  RLPDRVTGVDTDPHFIIHVPQKEDTLCFNINEEPGVILSLVQDPNTGFSVNGQLIGNKAR
  SPGQHDGTYFGRLGIANPATDFQLEVTPQNITLNPGFGGPVFSWRDQAVLRQDGVVVTIN
  KKRNLVVSVDDGGTFEVVLHRVWKGSSVHQDFLGFYVLDSHRMSARTHGLLGQFFHPIGF
  EVSDIHPGSDPTKPDATMVVRNRRLTVTRGLQKDYSKDPWHGAEVSCWFIHNNGAGLIDG
  AYTDYIVPDIF

• Sequence length: 911

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Parkinson disease	Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	28892059
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	24389398, 24166486, 31374203

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety		29942085
Bipolar disorder	Bipolar Disorder, Depression, Bipolar		31043756, 19416921, 21926972, 28072414, 25136889, 24166486, 31043756
Knee osteoarthritis	Osteoarthritis, Knee		30664745
Liver neoplasms	Liver neoplasms		17114358
Liver cancer	Malignant neoplasm of liver		17114358
Manic disorder	Manic, Manic Disorder		31043756
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	24389398, 22472876, 24389398
Osteoarthritis of hip	Osteoarthritis of hip		30664745, 30374069
Schizoaffective disorder	Schizoaffective Disorder		24166486