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Q8TD31

- CCHCR_HUMAN

UniProt

Q8TD31 - CCHCR_HUMAN

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Protein

Coiled-coil alpha-helical rod protein 1

Gene
CCHCR1, C6orf18, HCR
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili111 – 303193 Reviewed predictionAdd
BLAST
Coiled coili344 – 43794 Reviewed predictionAdd
BLAST
Coiled coili498 – 691194 Reviewed predictionAdd
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.

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 (1 Publication). HCR is unlikely to be directly involved in psoriasis development.

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. VSP_047069Add
BLAST
Alternative sequencei1 – 11M → MWPHSAGARPWASTLTGKDP RVMACWCLDGLPSGLAEPWR ELWRWRSRPLHCVPPFSPLA RSSRDHRNLRRRGNIDGWRQ NLEPSNNVEM in isoform 2. VSP_038062

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti20 – 201P → A in BAA81890. 1 Publication
Sequence conflicti43 – 431H → Y in BAA91007. 1 Publication
Sequence conflicti395 – 3951E → G in BAA91236. 1 Publication
Sequence conflicti472 – 4721H → L in BAA91007. 1 Publication
Sequence conflicti498 – 4981V → A in BAA91007. 1 Publication
Sequence conflicti667 – 6671Q → L in BAA91236. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 110 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

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