Seroatlas · Human Serome Atlas

ITIH6

Inter-alpha-trypsin inhibitor heavy chain H6

Also known as: ITIH5L, ITIH6_HUMAN, UNQ6369

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6UXX5
Gene: ITIH6
Ensembl: ENSG00000102313
Chromosome: X
Canonical length: 1313 aa
Protein class: Predicted secreted proteins
Secretome location: Secreted to blood

OverviewNCBI Gene

The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

1313 residues, UniProt reviewed canonical sequence.

>Q6UXX5|ITIH6
     1  MSGWRYLICV SFLLTILLEL TYQGPPVPAS SSTKLLMTSY SMRSTVVSRY AHTLVTSVLF
    61  NPHAEAHEAI FDLDLPHLAF ISNFTMTINN KVYIAEVKEK HQAKKIYEEA HQQGKTAAHV
   121  GIRDRESEKF RISTSLAAGT EVTFSLAYEE LLQRHQGQYQ LVVSLRPGQL VKRLSIEVTV
   181  SERTGISYVH IPPLRTGRLR TNAHASEVDS PPSTRIERGE TCVRITYCPT LQDQSSISGS
   241  GIMADFLVQY DVVMEDIIGD VQIYDDYFIH YFAPRGLPPM EKNVVFVIDV SSSMFGTKME
   301  QTKTAMNVIL SDLQANDYFN IISFSDTVNV WKAGGSIQAT IQNVHSAKDY LHCMEADGWT
   361  DVNSALLAAA SVLNHSNQEP GRGPSVGRIP LIIFLTDGEP TAGVTTPSVI LSNVRQALGH
   421  RVSLFSLAFG DDADFTLLRR LSLENRGIAR RIYEDTDAAL QLKGLYEEIS MPLLADVRLN
   481  YLGGLVGASP WAVFPNYFGG SELVVAGQVQ PGKQELGIHL AARGPKDQLL VAHHSEGATN
   541  NSQKAFGCPG EPAPNVAHFI RRLWAYVTIG ELLDAHFQAR DTTTRHLLAA KVLNLSLEYN
   601  FVTPLTSLVM VQPKQASEET RRQTSTSAGP DTIMPSSSSR HGLGVSTAQP ALVPKVISPK
   661  SRPVKPKFYL SSTTTASTKK MLSSKELEPL GESPHTLSMP TYPKAKIPAQ QDSGTLAQPT
   721  LRTKPTILVP SNSGTLLPLK PGSLSHQNPD ILPTNSRTQV PPVKPGIPAS PKADTVKCVT
   781  PLHSKPGAPS HPQLGALTSQ APKGLPQSRP GVSTLQVPKY PLHTRPRVPA PKTRNNMPHL
   841  GPGILLSKTP KILLSLKPSA PPHQISTSIS LSKPETPNPH MPQTPLPPRP DRPRPPLPES
   901  LSTFPNTISS STGPSSTTTT SVLGEPLPMP FTPTLPPGRF WHQYDLLPGP QRTRQVLGPS
   961  RPGVPTMSLL NSSRPTPEGS PPNLPILLPS SILPEAISLL LLPEELELLS ESMVESKFVE
  1021  SLNPPAFYTF LTPDEDGSPN WDGNSEEILG GAGGSMESQG SSVGLAKGTL PSIFTFSSSV
  1081  DGDPHFVIQI PHSEEKICFT LNGHPGDLLQ LIEDPKAGLH VSGKLLGAPP RPGHKDQTRT
  1141  YFQIITVTTD KPRAYTITIS RSSISLRGEG TLRLSWDQPA LLKRPQLELY VAAAARLTLR
  1201  LGPYLEFLVL RHRYRHPSTL QLPHLGFYVA NGSGLSPSAR GLIGQFQHAD IRLVTGPMGP
  1261  CLRRHHGPDV PVILGKRLLK DSPRLLPRWA SCWLVKRSHV ELLLGHPYLS YVL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ITIH6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 1.4 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 1.4 nTPM
prostate: 0.4 nTPM
salivary gland: 0.4 nTPM
breast: 0.3 nTPM
adipose tissue: 0 nTPM
adrenal gland: 0 nTPM

Single-cell type

myonuclei: 388 nCPM
retinal horizontal cells: 14 nCPM
thymic myoid cells: 11 nCPM
prostatic glandular cells: 7.7 nCPM
platelets: 2.8 nCPM
proximal tubule cells: 2.4 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

amygdala: 0 nTPM
basal ganglia: 0 nTPM
cerebellum: 0 nTPM
cerebral cortex: 0 nTPM
choroid plexus: 0 nTPM
hippocampal formation: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ITIH6.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 260 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Short stature

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.52
gnomAD pLI: 0
gnomAD missense Z: -2.3
DepMap mean gene effect: 0
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ITIH6 as an antibody target. Whether an autoantibody or antibody against ITIH6 could matter depends on whether native ITIH6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ITIH6 is annotated as secreted, so native ITIH6 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label ITIH6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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