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Q96D42 (HAVR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hepatitis A virus cellular receptor 1

Short name=HAVcr-1
Alternative name(s):
Kidney injury molecule 1
Short name=KIM-1
T-cell immunoglobulin and mucin domain-containing protein 1
Short name=TIMD-1
T-cell membrane protein 1
TIM-1
Short name=TIM
Gene names
Name:HAVCR1
Synonyms:KIM1, TIM1, TIMD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length359 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in T-helper cell development and the regulation of asthma and allergic diseases. Receptor for TIMD4 By similarity. In case of human hepatitis A virus (HHAV) infection, functions as a cell-surface receptor for the virus. May play a role in kidney injury and repair. Ref.1 Ref.6

Subcellular location

Membrane; Single-pass type I membrane protein Probable.

Tissue specificity

Widely expressed, with highest levels in kidney and testis. Expressed by activated CD4+ T-cells during the development of helper T-cells responses. Ref.1

Induction

Up-regulated in the kidney in renal diseases (at protein level). Ref.6

Polymorphism

Infection by hepatitis A virus (HAV) protects individuals from atopy if they carry insertion of the variants Met-Thr-Thr-Val-Pro-157 and Met-Thr-Thr-Thr-Val-Pro-157. Modernisation has led to a reduction in HAV seroprevalence and thus, may be, to an increase of expression of atopy, such as asthma, allergic rhinitis and atopic dermatitis. Allelic variation does not affect HAV-infection rates in Caucasians, Asians and African Americans.

Miscellaneous

The extracellular part of the protein can be cleaved and detected in urine and is in correlation with the expression in the kidney.

Sequence similarities

Belongs to the immunoglobulin superfamily. TIM family.

Contains 1 Ig-like V-type (immunoglobulin-like) domain.

Ontologies

Keywords
   Biological processHost-virus interaction
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DomainImmunoglobulin domain
Repeat
Signal
Transmembrane
Transmembrane helix
   Molecular functionHost cell receptor for virus entry
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processvirus-host interaction

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 359339Hepatitis A virus cellular receptor 1
PRO_0000014981

Regions

Topological domain21 – 290270Extracellular Potential
Transmembrane291 – 31121Helical; Potential
Topological domain312 – 35948Cytoplasmic Potential
Domain21 – 121101Ig-like V-type
Repeat138 – 14361
Repeat144 – 14962
Repeat150 – 15563
Repeat156 – 16054
Repeat161 – 16665
Repeat167 – 17266
Repeat173 – 17867
Repeat179 – 18468
Repeat185 – 19069
Repeat191 – 196610
Repeat197 – 202611
Region138 – 2026511 X 6 AA approximate tandem repeats of V-P-T-T-T-T]
Compositional bias130 – 20576Thr-rich

Amino acid modifications

Glycosylation651N-linked (GlcNAc...) Potential
Glycosylation2581N-linked (GlcNAc...) Potential
Glycosylation2721N-linked (GlcNAc...) Potential
Glycosylation2861N-linked (GlcNAc...) Potential
Disulfide bond36 ↔ 105 By similarity
Disulfide bond46 ↔ 57 By similarity
Disulfide bond52 ↔ 104 By similarity

Natural variations

Natural variant511S → L.
Corresponds to variant rs2270922 [ dbSNP | Ensembl ].
VAR_056080
Natural variant1571P → PMTTTVP.
VAR_023321
Natural variant1571P → PMTTVP.
VAR_023322
Natural variant1951Missing. Ref.8
VAR_023323

Experimental info

Sequence conflict1741L → P in AAC39862. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q96D42 [UniParc].

Last modified August 30, 2005. Version 2.
Checksum: D24BA2C932903ECA

FASTA35938,720
        10         20         30         40         50         60 
MHPQVVILSL ILHLADSVAG SVKVGGEAGP SVTLPCHYSG AVTSMCWNRG SCSLFTCQNG 

        70         80         90        100        110        120 
IVWTNGTHVT YRKDTRYKLL GDLSRRDVSL TIENTAVSDS GVYCCRVEHR GWFNDMKITV 

       130        140        150        160        170        180 
SLEIVPPKVT TTPIVTTVPT VTTVRTSTTV PTTTTVPTTT VPTTMSIPTT TTVLTTMTVS 

       190        200        210        220        230        240 
TTTSVPTTTS IPTTTSVPVT TTVSTFVPPM PLPRQNHEPV ATSPSSPQPA ETHPTTLQGA 

       250        260        270        280        290        300 
IRREPTSSPL YSYTTDGNDT VTESSDGLWN NNQTQLFLEH SLLTANTTKG IYAGVCISVL 

       310        320        330        340        350 
VLLALLGVII AKKYFFKKEV QQLSVSFSSL QIKALQNAVE KEVQAEDNIY IENSLYATD 

« Hide

References

« Hide 'large scale' references
[1]"The human homolog of HAVcr-1 codes for a hepatitis A virus cellular receptor."
Feigelstock D., Thompson P., Mattoo P., Zhang Y., Kaplan G.G.
J. Virol. 72:6621-6628(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION AS A HAV RECEPTOR, TISSUE SPECIFICITY.
Tissue: Liver.
[2]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-THR-THR-VAL-PRO-157 INS.
[3]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-THR-THR-VAL-PRO-157 INS.
Tissue: Kidney.
[5]"Immunoglobulin A (IgA) is a natural ligand of hepatitis A virus cellular receptor 1 (HAVCR1), and the association of IgA with HAVCR1 enhances virus-receptor interactions."
Tami C., Silberstein E., Manangeeswaran M., Freeman G.J., Umetsu S.E., DeKruyff R.H., Umetsu D.T., Kaplan G.G.
J. Virol. 81:3437-3446(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH IMMUNOGLUBULIN A.
[6]"Tubular kidney injury molecule-1 (KIM-1) in human renal disease."
van Timmeren M.M., van den Heuvel M.C., Bailly V., Bakker S.J., van Goor H., Stegeman C.A.
J. Pathol. 212:209-217(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INDUCTION.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Hepatitis A virus link to atopic disease."
McIntire J.J., Umetsu S.E., Macaubas C., Hoyte E.G., Cinnioglu C., Cavalli-Sforza L.L., Barsh G.S., Hallmayer J.F., Underhill P.A., Risch N.J., Freeman G.J., DeKruyff R.H., Umetsu D.T.
Nature 425:576-576(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MET-THR-THR-THR-VAL-PRO-157 INS AND THR-195 DEL.
[9]Umetsu D.T.
Submitted (SEP-2005) to UniProtKB
Cited for: VARIANT MET-THR-THR-VAL-PRO-157 INS.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF043724 mRNA. Translation: AAC39862.1.
CR457114 mRNA. Translation: CAG33395.1.
AC026777 Genomic DNA. No translation available.
BC013325 mRNA. Translation: AAH13325.1.
IPIIPI00101048.
RefSeqNP_001092884.1. NM_001099414.1.
NP_001166864.1. NM_001173393.1.
NP_036338.2. NM_012206.2.
UniGeneHs.129711.

3D structure databases

ProteinModelPortalQ96D42.
ModBaseSearch...

Protein-protein interaction databases

IntActQ96D42. 1 interaction.
MINTMINT-2872051.
STRING9606.ENSP00000344844.

PTM databases

PhosphoSiteQ96D42.

Polymorphism databases

DMDM73919877.

Proteomic databases

PRIDEQ96D42.

Protocols and materials databases

DNASU26762.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000339252; ENSP00000344844; ENSG00000113249.
ENST00000523175; ENSP00000427898; ENSG00000113249.
ENST00000544197; ENSP00000440258; ENSG00000113249.
GeneID26762.
KEGGhsa:26762.
UCSCuc003lwi.2. human.

Organism-specific databases

CTD26762.
GeneCardsGC05M156456.
HGNCHGNC:17866. HAVCR1.
MIM606518. gene.
neXtProtNX_Q96D42.
PharmGKBPA134924567.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44399.
InParanoidQ96D42.

Gene expression databases

ArrayExpressQ96D42.
BgeeQ96D42.
CleanExHS_HAVCR1.
GenevestigatorQ96D42.
GermOnlineENSG00000113249. Homo sapiens.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003006. Ig/MHC_CS.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
[Graphical view]
PfamPF07686. V-set. 1 hit.
[Graphical view]
SMARTSM00409. IG. 1 hit.
[Graphical view]
PROSITEPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChEMBLCHEMBL1741306.
GenomeRNAi26762.
NextBio49123.
SOURCESearch...

Entry information

Entry nameHAVR1_HUMAN
AccessionPrimary (citable) accession number: Q96D42
Secondary accession number(s): O43656
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: May 1, 2013
This is version 101 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families