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

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3697
Gene name Gene Name - the full gene name approved by the HGNC.
Inter-alpha-trypsin inhibitor heavy chain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITIH1
Synonyms (NCBI Gene) Gene synonyms aliases
H1P, IATIH, IGHEP1, ITI-HC1, ITIH, SHAP
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005509 Function Calcium ion binding TAS 2446322
GO:0005515 Function Protein binding IPI 16873769, 20463016, 26468290
GO:0005540 Function Hyaluronic acid binding IDA 20463016
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
147270 6166 ENSG00000055957
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Parkinson Disease Parkinson's disease N/A N/A GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 21926972
Breast Neoplasms Inhibit 18226209
Carcinogenesis Associate 18226209
Carcinoma Hepatocellular Associate 33744857
Carpal Tunnel Syndrome Associate 37878141
Cognition Disorders Associate 34145405
Inflammation Associate 18226209
Liver Failure Associate 28025641
Mental Disorders Associate 34145405
Mood Disorders Associate 25136889