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Q8TD31

- CCHCR_HUMAN

UniProt

Q8TD31 - CCHCR_HUMAN

Protein

Coiled-coil alpha-helical rod protein 1

Gene

CCHCR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 2 (16 Feb 2004)
      Previous versions | rss
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    Functioni

    May be a regulator of keratinocyte proliferation or differentiation.

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. multicellular organismal development Source: UniProtKB-KW
    3. protein export from nucleus Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil alpha-helical rod protein 1
    Alternative name(s):
    Alpha-helical coiled-coil rod protein
    Putative gene 8 protein
    Short name:
    Pg8
    Gene namesi
    Name:CCHCR1
    Synonyms:C6orf18, HCR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:13930. CCHCR1.

    Subcellular locationi

    GO - Cellular componenti

    1. centriole Source: UniProtKB
    2. cytoplasm Source: HPA
    3. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134942738.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 782782Coiled-coil alpha-helical rod protein 1PRO_0000089416Add
    BLAST

    Proteomic databases

    MaxQBiQ8TD31.
    PaxDbiQ8TD31.
    PRIDEiQ8TD31.

    PTM databases

    PhosphoSiteiQ8TD31.

    Expressioni

    Tissue specificityi

    Found in all tissues tested, abundantly expressed in heart, liver, skeletal muscle, kidney and pancreas, and to a lesser extent in lung and placenta. Overexpressed in keratinocytes of psoriatic lesions.

    Gene expression databases

    ArrayExpressiQ8TD31.
    BgeeiQ8TD31.
    CleanExiHS_CCHCR1.
    GenevestigatoriQ8TD31.

    Organism-specific databases

    HPAiHPA048299.
    HPA054167.

    Interactioni

    Protein-protein interaction databases

    BioGridi120022. 7 interactions.
    IntActiQ8TD31. 6 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TD31.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili111 – 303193Sequence AnalysisAdd
    BLAST
    Coiled coili344 – 43794Sequence AnalysisAdd
    BLAST
    Coiled coili498 – 691194Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG130491.
    HOVERGENiHBG048718.
    InParanoidiQ8TD31.
    KOiK16760.
    OMAiRRYVGEQ.
    PhylomeDBiQ8TD31.
    TreeFamiTF336947.

    Family and domain databases

    InterProiIPR009800. HCR.
    [Graphical view]
    PANTHERiPTHR23161:SF4. PTHR23161:SF4. 1 hit.
    PfamiPF07111. HCR. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TD31-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR    50
    LDTQRPQVTM WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE 100
    LRRLEEEVRL LRETSLQQKM RLEAQAMELE ALARAEKAGR AEAEGLRAAL 150
    AGAEVVRKNL EEGSQRELEE VQRLHQEQLS SLTQAHEEAL SSLTSKAEGL 200
    EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE AQVTLVENLR 250
    KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS 300
    LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA 350
    QELEHSDSVK QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG 400
    AKGLQLELSR AQEARRRWQQ QTASAEEQLR LVVNAVSSSQ IWLETTMAKV 450
    EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR KLALAQLRQE SCPLPPPVTD 500
    VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE RQQLSKVAQQ 550
    LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA 600
    LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER 650
    SQELRRLQEE ARKEEGQRLA RRLQELERDK NLMLATLQQE GLLSRYKQQR 700
    LLTVLPSLLD KKKSVVSSPR PPECSASAPV AAAVPTRESI KGSLSVLLDD 750
    LQDLSEAISK EEAVCQGDNL DRCSSSNPQM SS 782
    Length:782
    Mass (Da):88,671
    Last modified:February 16, 2004 - v2
    Checksum:i0E7DE742DB57B29E
    GO
    Isoform 2 (identifier: Q8TD31-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MWPHSAGARP...NLEPSNNVEM

    Show »
    Length:871
    Mass (Da):99,007
    Checksum:iCFB1EF2739BCCE8D
    GO
    Isoform 3 (identifier: Q8TD31-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-41: MFPPSGSTGL...LSDIPLVQPP → MWPHSAGARP...SNNVEMFPPS

    Note: Gene prediction based on EST data.

    Show »
    Length:835
    Mass (Da):95,145
    Checksum:i9207F3B3D2D68D64
    GO

    Sequence cautioni

    The sequence AAF74221.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA81890.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA91236.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    Isoform 2 : The sequence AAI10536.1 differs from that shown. Reason: Erroneous termination at position 78. Translated as Trp.
    The sequence BAA82158.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence BAB63313.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence BAC54937.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti20 – 201P → A in BAA81890. (PubMed:10545595)Curated
    Sequence conflicti43 – 431H → Y in BAA91007. (PubMed:14702039)Curated
    Sequence conflicti395 – 3951E → G in BAA91236. (PubMed:14702039)Curated
    Sequence conflicti472 – 4721H → L in BAA91007. (PubMed:14702039)Curated
    Sequence conflicti498 – 4981V → A in BAA91007. (PubMed:14702039)Curated
    Sequence conflicti667 – 6671Q → L in BAA91236. (PubMed:14702039)Curated

    Polymorphismi

    HCR*WWCC is associated with susceptibility to psoriasis. Psoriasis is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is a multifactorial disease characterized by red, scaly skin lesions that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by hyperproliferative keratinocytes and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age. Association of HCR with psoriasis seem to be due to linkage disequilibrium with Cw*06:02 (PubMed:11348465). HCR is unlikely to be directly involved in psoriasis development.1 Publication

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti102 – 1021R → Q.2 Publications
    Corresponds to variant rs130075 [ dbSNP | Ensembl ].
    VAR_017761
    Natural varianti103 – 1031R → W in allele HCR*WWCC; associated with psoriasis. 4 Publications
    Corresponds to variant rs130065 [ dbSNP | Ensembl ].
    VAR_017762
    Natural varianti109 – 1091R → W in allele HCR*WWCC; associated with psoriasis. 5 Publications
    Corresponds to variant rs130076 [ dbSNP | Ensembl ].
    VAR_017763
    Natural varianti164 – 1641S → R.8 Publications
    Corresponds to variant rs130066 [ dbSNP | Ensembl ].
    VAR_017764
    Natural varianti179 – 1791L → Q.1 Publication
    Corresponds to variant rs11540822 [ dbSNP | Ensembl ].
    VAR_017782
    Natural varianti275 – 2751E → D.6 Publications
    Corresponds to variant rs130067 [ dbSNP | Ensembl ].
    VAR_017765
    Natural varianti367 – 3671A → T.1 Publication
    Corresponds to variant rs2027937 [ dbSNP | Ensembl ].
    VAR_017783
    Natural varianti417 – 4171R → Q.2 Publications
    Corresponds to variant rs130069 [ dbSNP | Ensembl ].
    VAR_017767
    Natural varianti417 – 4171R → W.6 Publications
    Corresponds to variant rs130068 [ dbSNP | Ensembl ].
    VAR_017766
    Natural varianti546 – 5461K → R.
    Corresponds to variant rs2073720 [ dbSNP | Ensembl ].
    VAR_017768
    Natural varianti575 – 5751G → C in allele HCR*WWCC; associated with psoriasis. 6 Publications
    Corresponds to variant rs130079 [ dbSNP | Ensembl ].
    VAR_017769
    Natural varianti627 – 6271R → Q.2 Publications
    Corresponds to variant rs130072 [ dbSNP | Ensembl ].
    VAR_017770
    Natural varianti639 – 6391Q → H.1 Publication
    Corresponds to variant rs130074 [ dbSNP | Ensembl ].
    VAR_017771
    Natural varianti733 – 7331A → V.1 Publication
    VAR_017784
    Natural varianti776 – 7761S → C in allele HCR*WWCC; associated with psoriasis. 6 Publications
    Corresponds to variant rs1576 [ dbSNP | Ensembl ].
    VAR_017772

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4141MFPPS…LVQPP → MWPHSAGARPWASTLTGKDP RVMACWCLDGLPSGLAEPWR ELWRWRSRPLHCVPPFSPLA RSSRDHRNLRRRGNIDGWRQ NLEPSNNVEMFPPS in isoform 3. CuratedVSP_047069Add
    BLAST
    Alternative sequencei1 – 11M → MWPHSAGARPWASTLTGKDP RVMACWCLDGLPSGLAEPWR ELWRWRSRPLHCVPPFSPLA RSSRDHRNLRRRGNIDGWRQ NLEPSNNVEM in isoform 2. 1 PublicationVSP_038062

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY029160 mRNA. Translation: AAK55759.1.
    BA000025 Genomic DNA. Translation: BAB63313.1. Sequence problems.
    AB088104 Genomic DNA. Translation: BAC54937.1. Sequence problems.
    AK000204 mRNA. Translation: BAA91007.1.
    AK000217 mRNA. Translation: BAA91016.1.
    AK000533 mRNA. Translation: BAA91236.1. Different initiation.
    AL662833 Genomic DNA. Translation: CAI17405.1.
    AL662844 Genomic DNA. Translation: CAI18328.1.
    AL662844 Genomic DNA. Translation: CAM25639.1.
    AL773544 Genomic DNA. Translation: CAI18483.1.
    AL773544 Genomic DNA. Translation: CAX15089.1.
    CR753819 Genomic DNA. Translation: CAQ10597.1.
    BC110535 mRNA. Translation: AAI10536.1.
    AB029331 mRNA. Translation: BAA81890.1. Different initiation.
    AB029343 Genomic DNA. Translation: BAA82158.1. Sequence problems.
    AF216493 mRNA. Translation: AAF74221.1. Different initiation.
    CCDSiCCDS43445.1. [Q8TD31-2]
    CCDS4695.1. [Q8TD31-1]
    CCDS47397.1. [Q8TD31-3]
    RefSeqiNP_001099033.1. NM_001105563.1. [Q8TD31-3]
    NP_001099034.1. NM_001105564.1. [Q8TD31-2]
    NP_061925.2. NM_019052.3. [Q8TD31-1]
    XP_005272889.1. XM_005272832.1.
    XP_005272890.1. XM_005272833.2.
    XP_005272892.1. XM_005272835.2.
    XP_005272893.1. XM_005272836.2.
    XP_005275044.1. XM_005274987.1.
    XP_005275045.1. XM_005274988.2.
    XP_005275047.1. XM_005274990.2.
    XP_005275048.1. XM_005274991.2.
    XP_005275480.1. XM_005275423.1. [Q8TD31-1]
    XP_006725551.1. XM_006725488.1.
    XP_006725765.1. XM_006725702.1.
    XP_006726067.1. XM_006726004.1. [Q8TD31-1]
    UniGeneiHs.485075.

    Genome annotation databases

    EnsembliENST00000376266; ENSP00000365442; ENSG00000204536. [Q8TD31-1]
    ENST00000383341; ENSP00000372832; ENSG00000206355.
    ENST00000383527; ENSP00000373019; ENSG00000206457. [Q8TD31-1]
    ENST00000396268; ENSP00000379566; ENSG00000204536. [Q8TD31-2]
    ENST00000400352; ENSP00000383205; ENSG00000206355.
    ENST00000400412; ENSP00000383263; ENSG00000206457. [Q8TD31-2]
    ENST00000416163; ENSP00000408012; ENSG00000234114.
    ENST00000425620; ENSP00000393042; ENSG00000234114.
    ENST00000451521; ENSP00000401039; ENSG00000204536. [Q8TD31-3]
    GeneIDi54535.
    KEGGihsa:54535.
    UCSCiuc003nsp.4. human. [Q8TD31-2]
    uc003nsr.4. human. [Q8TD31-1]

    Polymorphism databases

    DMDMi42558938.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY029160 mRNA. Translation: AAK55759.1 .
    BA000025 Genomic DNA. Translation: BAB63313.1 . Sequence problems.
    AB088104 Genomic DNA. Translation: BAC54937.1 . Sequence problems.
    AK000204 mRNA. Translation: BAA91007.1 .
    AK000217 mRNA. Translation: BAA91016.1 .
    AK000533 mRNA. Translation: BAA91236.1 . Different initiation.
    AL662833 Genomic DNA. Translation: CAI17405.1 .
    AL662844 Genomic DNA. Translation: CAI18328.1 .
    AL662844 Genomic DNA. Translation: CAM25639.1 .
    AL773544 Genomic DNA. Translation: CAI18483.1 .
    AL773544 Genomic DNA. Translation: CAX15089.1 .
    CR753819 Genomic DNA. Translation: CAQ10597.1 .
    BC110535 mRNA. Translation: AAI10536.1 .
    AB029331 mRNA. Translation: BAA81890.1 . Different initiation.
    AB029343 Genomic DNA. Translation: BAA82158.1 . Sequence problems.
    AF216493 mRNA. Translation: AAF74221.1 . Different initiation.
    CCDSi CCDS43445.1. [Q8TD31-2 ]
    CCDS4695.1. [Q8TD31-1 ]
    CCDS47397.1. [Q8TD31-3 ]
    RefSeqi NP_001099033.1. NM_001105563.1. [Q8TD31-3 ]
    NP_001099034.1. NM_001105564.1. [Q8TD31-2 ]
    NP_061925.2. NM_019052.3. [Q8TD31-1 ]
    XP_005272889.1. XM_005272832.1.
    XP_005272890.1. XM_005272833.2.
    XP_005272892.1. XM_005272835.2.
    XP_005272893.1. XM_005272836.2.
    XP_005275044.1. XM_005274987.1.
    XP_005275045.1. XM_005274988.2.
    XP_005275047.1. XM_005274990.2.
    XP_005275048.1. XM_005274991.2.
    XP_005275480.1. XM_005275423.1. [Q8TD31-1 ]
    XP_006725551.1. XM_006725488.1.
    XP_006725765.1. XM_006725702.1.
    XP_006726067.1. XM_006726004.1. [Q8TD31-1 ]
    UniGenei Hs.485075.

    3D structure databases

    ProteinModelPortali Q8TD31.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120022. 7 interactions.
    IntActi Q8TD31. 6 interactions.

    PTM databases

    PhosphoSitei Q8TD31.

    Polymorphism databases

    DMDMi 42558938.

    Proteomic databases

    MaxQBi Q8TD31.
    PaxDbi Q8TD31.
    PRIDEi Q8TD31.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000376266 ; ENSP00000365442 ; ENSG00000204536 . [Q8TD31-1 ]
    ENST00000383341 ; ENSP00000372832 ; ENSG00000206355 .
    ENST00000383527 ; ENSP00000373019 ; ENSG00000206457 . [Q8TD31-1 ]
    ENST00000396268 ; ENSP00000379566 ; ENSG00000204536 . [Q8TD31-2 ]
    ENST00000400352 ; ENSP00000383205 ; ENSG00000206355 .
    ENST00000400412 ; ENSP00000383263 ; ENSG00000206457 . [Q8TD31-2 ]
    ENST00000416163 ; ENSP00000408012 ; ENSG00000234114 .
    ENST00000425620 ; ENSP00000393042 ; ENSG00000234114 .
    ENST00000451521 ; ENSP00000401039 ; ENSG00000204536 . [Q8TD31-3 ]
    GeneIDi 54535.
    KEGGi hsa:54535.
    UCSCi uc003nsp.4. human. [Q8TD31-2 ]
    uc003nsr.4. human. [Q8TD31-1 ]

    Organism-specific databases

    CTDi 54535.
    GeneCardsi GC06M031110.
    GC06Mj31102.
    GC06Mk31103.
    GC06Mn31102.
    HGNCi HGNC:13930. CCHCR1.
    HPAi HPA048299.
    HPA054167.
    MIMi 605310. gene.
    neXtProti NX_Q8TD31.
    PharmGKBi PA134942738.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG130491.
    HOVERGENi HBG048718.
    InParanoidi Q8TD31.
    KOi K16760.
    OMAi RRYVGEQ.
    PhylomeDBi Q8TD31.
    TreeFami TF336947.

    Miscellaneous databases

    GeneWikii CCHCR1.
    GenomeRNAii 54535.
    NextBioi 56956.
    PROi Q8TD31.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TD31.
    Bgeei Q8TD31.
    CleanExi HS_CCHCR1.
    Genevestigatori Q8TD31.

    Family and domain databases

    InterProi IPR009800. HCR.
    [Graphical view ]
    PANTHERi PTHR23161:SF4. PTHR23161:SF4. 1 hit.
    Pfami PF07111. HCR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus."
      Asumalahti K., Veal A., Laitinen T., Suomela S., Allen M., Elomaa O., Moser M., de Cid R., Ripatti S., Vorechovsky I., Marcusson J.A., Nakagawa H., Lazaro C., Estivill X., Capon F., Novelli G., Burden D.B., Tillman D.
      , Powis S.H., Balendran N., Ameen M., Vaughan R.W., Heath E.K., Itkonen-Vatjus R., Jansen C., Karvonen J., Karvonen S.-L., Kivekas K., Reunala T., Snellman E., Uurasmaa T., Toftgard R., Murakami T., Otsuki M., Asahina A., Saeki H., Barbera E., Ferrandiz C., Gimenez Arnau A., Grimalt F., Puig S., Sanchez A., Palacios A., Pujol J.A., Sanchez M., Simal E., Vazquez F., Ramirez B., Saarialho-Kere U., Barker J., Trembath R., Kere J.
      Hum. Mol. Genet. 11:589-597(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLN-102; TRP-103; TRP-109; ARG-164; ASP-275; TRP-417; CYS-575; GLN-627; HIS-639 AND CYS-776.
    2. "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region."
      Shiina S., Tamiya G., Oka A., Inoko H.
      Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ARG-164 AND ASP-275.
    3. "Genome diversity in HLA: a new strategy for detection of genetic polymorphisms in expressed genes within the HLA class III and class I regions."
      Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H.
      Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ARG-164 AND ASP-275.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 270-782 (ISOFORMS 1/2), VARIANTS ASP-275 AND GLN-417.
      Tissue: Colon mucosa.
    5. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS TRP-103; TRP-109; ARG-164; TRP-417; CYS-575 AND CYS-776.
    6. "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] (ISOFORM 2), VARIANTS TRP-109; ARG-164; TRP-417; CYS-575 AND CYS-776.
    7. "Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111kb segment telomeric to the HLA-C gene."
      Oka A., Tamiya G., Tomizawa M., Ota M., Katsuyama Y., Makino S., Shiina T., Yoshitome M., Lizuka M., Sasao Y., Iwashita K., Kawakubo Y., Sugai J., Ozawa A., Ohkido M., Kimura M., Bahram S., Inoko H.
      Hum. Mol. Genet. 8:2165-2170(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 20-782 (ISOFORMS 1/2), VARIANTS TRP-103; TRP-109; ARG-164; ASP-275; TRP-417; CYS-575 AND CYS-776.
      Tissue: Blood and Lymphoblast.
    8. "A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele."
      Asumalahti K., Laitinen T., Itkonen-Vatjus R., Lokki M.-L., Suomela S., Snellman E., Saarialho-Kere U., Kere J.
      Hum. Mol. Genet. 9:1533-1542(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-782 (ISOFORMS 1/2), VARIANTS ARG-164; TRP-417; CYS-575 AND CYS-776.
    9. "HCR, a candidate gene for psoriasis, is expressed differently in psoriasis and other hyperproliferative skin disorders and is downregulated by interferon-gamma in keratinocytes."
      Suomela S., Elomaa O., Asumalahti K., Kariniemi A.L., Karvonen S.L., Peltonen J., Kere J., Saarialho-Kere U.
      J. Invest. Dermatol. 121:1360-1364(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN PSORIASIS.
    10. Cited for: VARIANTS GLN-102; TRP-103; TRP-109; ARG-164; GLN-179; ASP-275; THR-367; TRP-417; GLN-417; CYS-575; GLN-627; VAL-733 AND CYS-776.

    Entry informationi

    Entry nameiCCHCR_HUMAN
    AccessioniPrimary (citable) accession number: Q8TD31
    Secondary accession number(s): A2ABH6
    , E9PE84, Q2TB67, Q5SQ82, Q5STE9, Q9NRK8, Q9NWY9, Q9NXJ4, Q9NXK3, Q9Y6W1, Q9Y6W2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 16, 2004
    Last sequence update: February 16, 2004
    Last modified: October 1, 2014
    This is version 111 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3