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Coiled-coil alpha-helical rod protein 1 (Alpha-helical coiled-coil rod protein) (Putative gene 8 protein) (Pg8)

 CCHCR_HUMAN             Reviewed;         782 AA.
Q8TD31; A2ABH6; E9PE84; Q2TB67; Q5SQ82; Q5STE9; Q9NRK8; Q9NWY9;
Q9NXJ4; Q9NXK3; Q9Y6W1; Q9Y6W2;
16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
16-FEB-2004, sequence version 2.
12-SEP-2018, entry version 146.
RecName: Full=Coiled-coil alpha-helical rod protein 1;
AltName: Full=Alpha-helical coiled-coil rod protein;
AltName: Full=Putative gene 8 protein;
Short=Pg8;
Name=CCHCR1; Synonyms=C6orf18, HCR;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS GLN-102; TRP-103;
TRP-109; ARG-164; ASP-275; TRP-417; CYS-575; GLN-627; HIS-639 AND
CYS-776.
PubMed=11875053; DOI=10.1093/hmg/11.5.589;
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.;
"Coding haplotype analysis supports HCR as the putative susceptibility
gene for psoriasis at the MHC PSORS1 locus.";
Hum. Mol. Genet. 11:589-597(2002).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ARG-164
AND ASP-275.
Shiina S., Tamiya G., Oka A., Inoko H.;
"Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS ARG-164
AND ASP-275.
Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H.;
"Genome diversity in HLA: a new strategy for detection of genetic
polymorphisms in expressed genes within the HLA class III and class I
regions.";
Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE
SEQUENCE [LARGE SCALE MRNA] OF 270-782 (ISOFORMS 1/2), AND VARIANTS
ASP-275 AND GLN-417.
TISSUE=Colon mucosa;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS TRP-103;
TRP-109; ARG-164; TRP-417; CYS-575 AND CYS-776.
PubMed=14574404; DOI=10.1038/nature02055;
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.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS
TRP-109; ARG-164; TRP-417; CYS-575 AND CYS-776.
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 20-782 (ISOFORMS 1/2), AND
VARIANTS TRP-103; TRP-109; ARG-164; ASP-275; TRP-417; CYS-575 AND
CYS-776.
TISSUE=Blood, and Lymphoblast;
PubMed=10545595; DOI=10.1093/hmg/8.12.2165;
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.;
"Association analysis using refined microsatellite markers localizes a
susceptibility locus for psoriasis vulgaris within a 111kb segment
telomeric to the HLA-C gene.";
Hum. Mol. Genet. 8:2165-2170(1999).
[8]
NUCLEOTIDE SEQUENCE [MRNA] OF 20-782 (ISOFORMS 1/2), AND VARIANTS
ARG-164; TRP-417; CYS-575 AND CYS-776.
PubMed=10888604; DOI=10.1093/hmg/9.10.1533;
Asumalahti K., Laitinen T., Itkonen-Vatjus R., Lokki M.-L.,
Suomela S., Snellman E., Saarialho-Kere U., Kere J.;
"A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly
polymorphic with a disease-associated susceptibility allele.";
Hum. Mol. Genet. 9:1533-1542(2000).
[9]
INVOLVEMENT IN PSORIASIS.
PubMed=14675183; DOI=10.1046/j.1523-1747.2003.12642.x;
Suomela S., Elomaa O., Asumalahti K., Kariniemi A.L., Karvonen S.L.,
Peltonen J., Kere J., Saarialho-Kere U.;
"HCR, a candidate gene for psoriasis, is expressed differently in
psoriasis and other hyperproliferative skin disorders and is
downregulated by interferon-gamma in keratinocytes.";
J. Invest. Dermatol. 121:1360-1364(2003).
[10]
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.
PubMed=11348465; DOI=10.1046/j.0022-202x.2001.01323.x;
O'Brien K.P., Holm S.J., Nilsson S., Carlen L., Rosenmuller T.,
Enerbaeck C., Inerot A., Staahle-Baeckdahl M.;
"The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility
gene.";
J. Invest. Dermatol. 116:750-754(2001).
-!- FUNCTION: May be a regulator of keratinocyte proliferation or
differentiation.
-!- INTERACTION:
Q9NYB9:ABI2; NbExp=3; IntAct=EBI-10175300, EBI-743598;
P13196:ALAS1; NbExp=3; IntAct=EBI-10175300, EBI-3905054;
Q9Y2J4-4:AMOTL2; NbExp=3; IntAct=EBI-10175300, EBI-10187270;
Q96IX9:ANKRD36BP1; NbExp=4; IntAct=EBI-10175300, EBI-744859;
A9UGY9:ATG5; NbExp=3; IntAct=EBI-10175300, EBI-10175276;
Q9UL45:BLOC1S6; NbExp=3; IntAct=EBI-10175300, EBI-465781;
Q6P1W5:C1orf94; NbExp=4; IntAct=EBI-10175300, EBI-946029;
Q9H257:CARD9; NbExp=3; IntAct=EBI-10175300, EBI-751319;
Q68D86:CCDC102B; NbExp=5; IntAct=EBI-10175300, EBI-10171570;
Q8IYE1:CCDC13; NbExp=4; IntAct=EBI-10175300, EBI-10961312;
Q96JN2-2:CCDC136; NbExp=3; IntAct=EBI-10175300, EBI-10171416;
Q01850:CDR2; NbExp=5; IntAct=EBI-10175300, EBI-1181367;
Q53EZ4:CEP55; NbExp=5; IntAct=EBI-10175300, EBI-747776;
Q96M91:CFAP53; NbExp=4; IntAct=EBI-10175300, EBI-742422;
Q9Y2V7:COG6; NbExp=4; IntAct=EBI-10175300, EBI-3866319;
O15320:CTAGE5; NbExp=3; IntAct=EBI-10175300, EBI-1050253;
O60941-5:DTNB; NbExp=4; IntAct=EBI-10175300, EBI-11984733;
Q96EV8:DTNBP1; NbExp=3; IntAct=EBI-10175300, EBI-465804;
Q5JST6:EFHC2; NbExp=5; IntAct=EBI-10175300, EBI-2349927;
A1L4K1:FSD2; NbExp=5; IntAct=EBI-10175300, EBI-5661036;
Q08379:GOLGA2; NbExp=7; IntAct=EBI-10175300, EBI-618309;
Q96CS2:HAUS1; NbExp=5; IntAct=EBI-10175300, EBI-2514791;
O75506:HSBP1; NbExp=7; IntAct=EBI-10175300, EBI-748664;
Q9BVG8-5:KIFC3; NbExp=4; IntAct=EBI-10175300, EBI-14069005;
A1A4E9:KRT13; NbExp=3; IntAct=EBI-10175300, EBI-10171552;
P19012:KRT15; NbExp=5; IntAct=EBI-10175300, EBI-739566;
Q15323:KRT31; NbExp=5; IntAct=EBI-10175300, EBI-948001;
Q6A162:KRT40; NbExp=5; IntAct=EBI-10175300, EBI-10171697;
Q9Y6D9:MAD1L1; NbExp=5; IntAct=EBI-10175300, EBI-742610;
Q9NPJ6:MED4; NbExp=5; IntAct=EBI-10175300, EBI-394607;
Q9UJV3-2:MID2; NbExp=7; IntAct=EBI-10175300, EBI-10172526;
Q5JR59:MTUS2; NbExp=3; IntAct=EBI-10175300, EBI-742948;
Q15742:NAB2; NbExp=3; IntAct=EBI-10175300, EBI-8641936;
O14777:NDC80; NbExp=7; IntAct=EBI-10175300, EBI-715849;
Q9GZM8:NDEL1; NbExp=3; IntAct=EBI-10175300, EBI-928842;
Q9Y2I6:NINL; NbExp=3; IntAct=EBI-10175300, EBI-719716;
Q9Y5B8:NME7; NbExp=5; IntAct=EBI-10175300, EBI-744782;
P37198:NUP62; NbExp=5; IntAct=EBI-10175300, EBI-347978;
Q86Y26:NUTM1; NbExp=3; IntAct=EBI-10175300, EBI-10178410;
Q15154-3:PCM1; NbExp=4; IntAct=EBI-10175300, EBI-11742977;
O75928:PIAS2; NbExp=3; IntAct=EBI-10175300, EBI-348555;
Q96I25:RBM17; NbExp=5; IntAct=EBI-10175300, EBI-740272;
P21673:SAT1; NbExp=7; IntAct=EBI-10175300, EBI-711613;
Q96R06:SPAG5; NbExp=5; IntAct=EBI-10175300, EBI-413317;
Q8NA61-2:SPERT; NbExp=4; IntAct=EBI-10175300, EBI-11524851;
Q9Y2D8:SSX2IP; NbExp=3; IntAct=EBI-10175300, EBI-2212028;
O75478:TADA2A; NbExp=3; IntAct=EBI-10175300, EBI-742268;
Q969V4:TEKT1; NbExp=5; IntAct=EBI-10175300, EBI-10180409;
Q9UBB9:TFIP11; NbExp=7; IntAct=EBI-10175300, EBI-1105213;
P06753:TPM3; NbExp=11; IntAct=EBI-10175300, EBI-355607;
Q5VU62:TPM3; NbExp=3; IntAct=EBI-10175300, EBI-10184033;
Q13077:TRAF1; NbExp=5; IntAct=EBI-10175300, EBI-359224;
Q12933:TRAF2; NbExp=5; IntAct=EBI-10175300, EBI-355744;
P14373:TRIM27; NbExp=3; IntAct=EBI-10175300, EBI-719493;
Q9BZW7:TSGA10; NbExp=5; IntAct=EBI-10175300, EBI-744794;
P40222:TXLNA; NbExp=5; IntAct=EBI-10175300, EBI-359793;
Q8N3L3:TXLNB; NbExp=5; IntAct=EBI-10175300, EBI-6116822;
Q8N6Y0:USHBP1; NbExp=7; IntAct=EBI-10175300, EBI-739895;
Q9Y3C0:WASHC3; NbExp=5; IntAct=EBI-10175300, EBI-712969;
Q96K21-3:ZFYVE19; NbExp=3; IntAct=EBI-10175300, EBI-10187928;
-!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q8TD31-1; Sequence=Displayed;
Name=2;
IsoId=Q8TD31-2; Sequence=VSP_038062;
Note=Ref.6 (AAI10536) sequence differs from that shown due to
erroneous termination (Translated as Trp in position 78).
{ECO:0000305};
Name=3;
IsoId=Q8TD31-3; Sequence=VSP_047069;
Note=Gene prediction based on EST data.;
-!- TISSUE SPECIFICITY: 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.
-!- POLYMORPHISM: 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.
{ECO:0000269|PubMed:11348465}.
-!- SEQUENCE CAUTION:
Sequence=AAF74221.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAA81890.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAA82158.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Sequence=BAA91236.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAB63313.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Sequence=BAC54937.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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EMBL; AY029160; AAK55759.1; -; mRNA.
EMBL; BA000025; BAB63313.1; ALT_SEQ; Genomic_DNA.
EMBL; AB088104; BAC54937.1; ALT_SEQ; Genomic_DNA.
EMBL; AK000204; BAA91007.1; -; mRNA.
EMBL; AK000217; BAA91016.1; -; mRNA.
EMBL; AK000533; BAA91236.1; ALT_INIT; mRNA.
EMBL; AL662833; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL662844; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL773544; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CR753819; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC110535; AAI10536.1; -; mRNA.
EMBL; AB029331; BAA81890.1; ALT_INIT; mRNA.
EMBL; AB029343; BAA82158.1; ALT_SEQ; Genomic_DNA.
EMBL; AF216493; AAF74221.1; ALT_INIT; mRNA.
CCDS; CCDS43445.1; -. [Q8TD31-2]
CCDS; CCDS4695.1; -. [Q8TD31-1]
CCDS; CCDS47397.1; -. [Q8TD31-3]
RefSeq; NP_001099033.1; NM_001105563.1. [Q8TD31-3]
RefSeq; NP_001099034.1; NM_001105564.1. [Q8TD31-2]
RefSeq; NP_061925.2; NM_019052.3. [Q8TD31-1]
RefSeq; XP_011513005.1; XM_011514703.1. [Q8TD31-1]
RefSeq; XP_016866451.1; XM_017010962.1. [Q8TD31-1]
RefSeq; XP_016866452.1; XM_017010963.1. [Q8TD31-1]
RefSeq; XP_016866453.1; XM_017010964.1. [Q8TD31-1]
RefSeq; XP_016866454.1; XM_017010965.1. [Q8TD31-1]
RefSeq; XP_016866455.1; XM_017010966.1. [Q8TD31-1]
RefSeq; XP_016866456.1; XM_017010967.1. [Q8TD31-1]
RefSeq; XP_016866457.1; XM_017010968.1. [Q8TD31-1]
UniGene; Hs.485075; -.
ProteinModelPortal; Q8TD31; -.
SMR; Q8TD31; -.
BioGrid; 120022; 115.
DIP; DIP-40394N; -.
IntAct; Q8TD31; 178.
MINT; Q8TD31; -.
STRING; 9606.ENSP00000379566; -.
iPTMnet; Q8TD31; -.
PhosphoSitePlus; Q8TD31; -.
BioMuta; CCHCR1; -.
DMDM; 42558938; -.
EPD; Q8TD31; -.
MaxQB; Q8TD31; -.
PaxDb; Q8TD31; -.
PeptideAtlas; Q8TD31; -.
PRIDE; Q8TD31; -.
ProteomicsDB; 74228; -.
ProteomicsDB; 74229; -. [Q8TD31-2]
Ensembl; ENST00000376266; ENSP00000365442; ENSG00000204536. [Q8TD31-1]
Ensembl; ENST00000383341; ENSP00000372832; ENSG00000206355.
Ensembl; ENST00000383527; ENSP00000373019; ENSG00000206457. [Q8TD31-1]
Ensembl; ENST00000396268; ENSP00000379566; ENSG00000204536. [Q8TD31-2]
Ensembl; ENST00000400352; ENSP00000383205; ENSG00000206355.
Ensembl; ENST00000400412; ENSP00000383263; ENSG00000206457. [Q8TD31-2]
Ensembl; ENST00000416163; ENSP00000408012; ENSG00000234114.
Ensembl; ENST00000425620; ENSP00000393042; ENSG00000234114.
Ensembl; ENST00000451521; ENSP00000401039; ENSG00000204536. [Q8TD31-3]
GeneID; 54535; -.
KEGG; hsa:54535; -.
UCSC; uc003nsp.4; human. [Q8TD31-1]
CTD; 54535; -.
DisGeNET; 54535; -.
EuPathDB; HostDB:ENSG00000204536.13; -.
GeneCards; CCHCR1; -.
HGNC; HGNC:13930; CCHCR1.
HPA; HPA054167; -.
MIM; 605310; gene.
neXtProt; NX_Q8TD31; -.
OpenTargets; ENSG00000204536; -.
PharmGKB; PA134942738; -.
eggNOG; ENOG410IGTY; Eukaryota.
eggNOG; ENOG410YGAD; LUCA.
GeneTree; ENSGT00710000106841; -.
HOVERGEN; HBG048718; -.
InParanoid; Q8TD31; -.
KO; K16760; -.
OMA; YVGEQVP; -.
OrthoDB; EOG091G01VU; -.
PhylomeDB; Q8TD31; -.
TreeFam; TF336947; -.
ChiTaRS; CCHCR1; human.
GeneWiki; CCHCR1; -.
GenomeRNAi; 54535; -.
PRO; PR:Q8TD31; -.
Proteomes; UP000005640; Chromosome 6.
Bgee; ENSG00000204536; Expressed in 207 organ(s), highest expression level in testis.
CleanEx; HS_CCHCR1; -.
ExpressionAtlas; Q8TD31; baseline and differential.
Genevisible; Q8TD31; HS.
GO; GO:0005814; C:centriole; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0042802; F:identical protein binding; IPI:IntAct.
GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
GO; GO:0007275; P:multicellular organism development; IEA:UniProtKB-KW.
GO; GO:0006611; P:protein export from nucleus; IBA:GO_Central.
InterPro; IPR009800; HCR.
PANTHER; PTHR23161:SF5; PTHR23161:SF5; 1.
Pfam; PF07111; HCR; 1.
1: Evidence at protein level;
Alternative splicing; Coiled coil; Complete proteome; Cytoplasm;
Developmental protein; Differentiation; Nucleus; Polymorphism;
Reference proteome.
CHAIN 1 782 Coiled-coil alpha-helical rod protein 1.
/FTId=PRO_0000089416.
COILED 111 303 {ECO:0000255}.
COILED 344 437 {ECO:0000255}.
COILED 498 691 {ECO:0000255}.
VAR_SEQ 1 41 MFPPSGSTGLIPPSHFQARPLSTLPRMAPTWLSDIPLVQPP
-> MWPHSAGARPWASTLTGKDPRVMACWCLDGLPSGLAEP
WRELWRWRSRPLHCVPPFSPLARSSRDHRNLRRRGNIDGWR
QNLEPSNNVEMFPPS (in isoform 3).
{ECO:0000305}.
/FTId=VSP_047069.
VAR_SEQ 1 1 M -> MWPHSAGARPWASTLTGKDPRVMACWCLDGLPSGLA
EPWRELWRWRSRPLHCVPPFSPLARSSRDHRNLRRRGNIDG
WRQNLEPSNNVEM (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_038062.
VARIANT 102 102 R -> Q (in dbSNP:rs130075).
{ECO:0000269|PubMed:11348465,
ECO:0000269|PubMed:11875053}.
/FTId=VAR_017761.
VARIANT 103 103 R -> W (in allele HCR*WWCC; associated
with psoriasis; dbSNP:rs130065).
{ECO:0000269|PubMed:10545595,
ECO:0000269|PubMed:11348465,
ECO:0000269|PubMed:11875053,
ECO:0000269|PubMed:14574404}.
/FTId=VAR_017762.
VARIANT 109 109 R -> W (in allele HCR*WWCC; associated
with psoriasis; dbSNP:rs130076).
{ECO:0000269|PubMed:10545595,
ECO:0000269|PubMed:11348465,
ECO:0000269|PubMed:11875053,
ECO:0000269|PubMed:14574404,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_017763.
VARIANT 164 164 S -> R (in dbSNP:rs130066).
{ECO:0000269|PubMed:10545595,
ECO:0000269|PubMed:10888604,
ECO:0000269|PubMed:11348465,
ECO:0000269|PubMed:11875053,
ECO:0000269|PubMed:14574404,
ECO:0000269|PubMed:15489334,
ECO:0000269|Ref.2, ECO:0000269|Ref.3}.
/FTId=VAR_017764.
VARIANT 179 179 L -> Q (in dbSNP:rs11540822).
{ECO:0000269|PubMed:11348465}.
/FTId=VAR_017782.
VARIANT 275 275 E -> D (in dbSNP:rs130067).
{ECO:0000269|PubMed:10545595,
ECO:0000269|PubMed:11348465,
ECO:0000269|PubMed:11875053,
ECO:0000269|PubMed:14702039,
ECO:0000269|Ref.2, ECO:0000269|Ref.3}.
/FTId=VAR_017765.
VARIANT 367 367 A -> T (in dbSNP:rs2027937).
{ECO:0000269|PubMed:11348465}.
/FTId=VAR_017783.
VARIANT 417 417 R -> Q (in dbSNP:rs130069).
{ECO:0000269|PubMed:11348465,
ECO:0000269|PubMed:14702039}.
/FTId=VAR_017767.
VARIANT 417 417 R -> W (in dbSNP:rs130068).
{ECO:0000269|PubMed:10545595,
ECO:0000269|PubMed:10888604,
ECO:0000269|PubMed:11348465,
ECO:0000269|PubMed:11875053,
ECO:0000269|PubMed:14574404,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_017766.
VARIANT 546 546 K -> R (in dbSNP:rs2073720).
/FTId=VAR_017768.
VARIANT 575 575 G -> C (in allele HCR*WWCC; associated
with psoriasis; dbSNP:rs130079).
{ECO:0000269|PubMed:10545595,
ECO:0000269|PubMed:10888604,
ECO:0000269|PubMed:11348465,
ECO:0000269|PubMed:11875053,
ECO:0000269|PubMed:14574404,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_017769.
VARIANT 627 627 R -> Q (in dbSNP:rs130072).
{ECO:0000269|PubMed:11348465,
ECO:0000269|PubMed:11875053}.
/FTId=VAR_017770.
VARIANT 639 639 Q -> H (in dbSNP:rs130074).
{ECO:0000269|PubMed:11875053}.
/FTId=VAR_017771.
VARIANT 733 733 A -> V (in dbSNP:rs140560656).
{ECO:0000269|PubMed:11348465}.
/FTId=VAR_017784.
VARIANT 776 776 S -> C (in allele HCR*WWCC; associated
with psoriasis; dbSNP:rs1576).
{ECO:0000269|PubMed:10545595,
ECO:0000269|PubMed:10888604,
ECO:0000269|PubMed:11348465,
ECO:0000269|PubMed:11875053,
ECO:0000269|PubMed:14574404,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_017772.
CONFLICT 20 20 P -> A (in Ref. 7; BAA81890).
{ECO:0000305}.
CONFLICT 43 43 H -> Y (in Ref. 4; BAA91007).
{ECO:0000305}.
CONFLICT 395 395 E -> G (in Ref. 4; BAA91236).
{ECO:0000305}.
CONFLICT 472 472 H -> L (in Ref. 4; BAA91007).
{ECO:0000305}.
CONFLICT 498 498 V -> A (in Ref. 4; BAA91007).
{ECO:0000305}.
CONFLICT 667 667 Q -> L (in Ref. 4; BAA91236).
{ECO:0000305}.
SEQUENCE 782 AA; 88671 MW; 0E7DE742DB57B29E CRC64;
MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLATLQQE GLLSRYKQQR LLTVLPSLLD KKKSVVSSPR
PPECSASAPV AAAVPTRESI KGSLSVLLDD LQDLSEAISK EEAVCQGDNL DRCSSSNPQM
SS


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